Incidental Mutation 'R0883:Mast4'
ID |
80906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mast4
|
Ensembl Gene |
ENSMUSG00000034751 |
Gene Name |
microtubule associated serine/threonine kinase family member 4 |
Synonyms |
4930420O11Rik |
MMRRC Submission |
039050-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R0883 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
102868994-103471005 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102990408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 50
(K50E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096808
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099202]
[ENSMUST00000164111]
[ENSMUST00000166336]
[ENSMUST00000166726]
[ENSMUST00000167058]
[ENSMUST00000167462]
[ENSMUST00000171791]
[ENSMUST00000172264]
|
AlphaFold |
Q811L6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099202
AA Change: K50E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096808 Gene: ENSMUSG00000034751 AA Change: K50E
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
38 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
76 |
353 |
2.2e-146 |
PFAM |
S_TKc
|
391 |
664 |
4.13e-98 |
SMART |
S_TK_X
|
665 |
729 |
3.79e-2 |
SMART |
low complexity region
|
745 |
758 |
N/A |
INTRINSIC |
low complexity region
|
818 |
831 |
N/A |
INTRINSIC |
low complexity region
|
840 |
857 |
N/A |
INTRINSIC |
low complexity region
|
925 |
960 |
N/A |
INTRINSIC |
PDZ
|
970 |
1050 |
2.34e-15 |
SMART |
low complexity region
|
1070 |
1087 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1122 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
low complexity region
|
1142 |
1164 |
N/A |
INTRINSIC |
low complexity region
|
1202 |
1219 |
N/A |
INTRINSIC |
low complexity region
|
1290 |
1306 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1361 |
N/A |
INTRINSIC |
low complexity region
|
1937 |
1953 |
N/A |
INTRINSIC |
low complexity region
|
1996 |
2010 |
N/A |
INTRINSIC |
low complexity region
|
2150 |
2161 |
N/A |
INTRINSIC |
low complexity region
|
2296 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164111
AA Change: K230E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126625 Gene: ENSMUSG00000034751 AA Change: K230E
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166336
AA Change: K45E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126516 Gene: ENSMUSG00000034751 AA Change: K45E
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
71 |
212 |
1.2e-68 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166726
AA Change: K230E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132263 Gene: ENSMUSG00000034751 AA Change: K230E
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
51 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
256 |
530 |
4.2e-145 |
PFAM |
S_TKc
|
568 |
841 |
4.13e-98 |
SMART |
S_TK_X
|
842 |
906 |
3.79e-2 |
SMART |
low complexity region
|
922 |
935 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1008 |
N/A |
INTRINSIC |
low complexity region
|
1035 |
1070 |
N/A |
INTRINSIC |
PDZ
|
1080 |
1160 |
2.34e-15 |
SMART |
low complexity region
|
1180 |
1201 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166867
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167058
AA Change: K230E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128464 Gene: ENSMUSG00000034751 AA Change: K230E
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
51 |
N/A |
INTRINSIC |
Pfam:DUF1908
|
256 |
529 |
5.1e-134 |
PFAM |
S_TKc
|
568 |
841 |
4.13e-98 |
SMART |
S_TK_X
|
842 |
906 |
3.79e-2 |
SMART |
low complexity region
|
922 |
935 |
N/A |
INTRINSIC |
low complexity region
|
995 |
1008 |
N/A |
INTRINSIC |
low complexity region
|
1017 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1102 |
1137 |
N/A |
INTRINSIC |
PDZ
|
1147 |
1227 |
2.34e-15 |
SMART |
low complexity region
|
1247 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1288 |
1299 |
N/A |
INTRINSIC |
low complexity region
|
1304 |
1316 |
N/A |
INTRINSIC |
low complexity region
|
1319 |
1341 |
N/A |
INTRINSIC |
low complexity region
|
1379 |
1396 |
N/A |
INTRINSIC |
low complexity region
|
1467 |
1483 |
N/A |
INTRINSIC |
low complexity region
|
1522 |
1538 |
N/A |
INTRINSIC |
low complexity region
|
2114 |
2130 |
N/A |
INTRINSIC |
low complexity region
|
2173 |
2187 |
N/A |
INTRINSIC |
low complexity region
|
2327 |
2338 |
N/A |
INTRINSIC |
low complexity region
|
2473 |
2484 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167462
AA Change: K38E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131910 Gene: ENSMUSG00000034751 AA Change: K38E
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
64 |
338 |
3e-145 |
PFAM |
S_TKc
|
376 |
649 |
4.13e-98 |
SMART |
S_TK_X
|
650 |
714 |
3.79e-2 |
SMART |
low complexity region
|
730 |
743 |
N/A |
INTRINSIC |
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
low complexity region
|
843 |
878 |
N/A |
INTRINSIC |
PDZ
|
888 |
968 |
2.34e-15 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171791
AA Change: K38E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131651 Gene: ENSMUSG00000034751 AA Change: K38E
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
64 |
338 |
1.2e-144 |
PFAM |
S_TKc
|
376 |
649 |
4.13e-98 |
SMART |
S_TK_X
|
650 |
714 |
3.79e-2 |
SMART |
low complexity region
|
730 |
743 |
N/A |
INTRINSIC |
low complexity region
|
803 |
816 |
N/A |
INTRINSIC |
low complexity region
|
825 |
842 |
N/A |
INTRINSIC |
low complexity region
|
910 |
945 |
N/A |
INTRINSIC |
PDZ
|
955 |
1035 |
2.34e-15 |
SMART |
low complexity region
|
1055 |
1072 |
N/A |
INTRINSIC |
low complexity region
|
1096 |
1107 |
N/A |
INTRINSIC |
low complexity region
|
1112 |
1124 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1149 |
N/A |
INTRINSIC |
low complexity region
|
1187 |
1204 |
N/A |
INTRINSIC |
low complexity region
|
1275 |
1291 |
N/A |
INTRINSIC |
low complexity region
|
1330 |
1346 |
N/A |
INTRINSIC |
low complexity region
|
1922 |
1938 |
N/A |
INTRINSIC |
low complexity region
|
1981 |
1995 |
N/A |
INTRINSIC |
low complexity region
|
2135 |
2146 |
N/A |
INTRINSIC |
low complexity region
|
2281 |
2292 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172264
AA Change: K23E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128129 Gene: ENSMUSG00000034751 AA Change: K23E
Domain | Start | End | E-Value | Type |
Pfam:DUF1908
|
49 |
326 |
4.1e-147 |
PFAM |
S_TKc
|
364 |
637 |
4.13e-98 |
SMART |
S_TK_X
|
638 |
702 |
3.79e-2 |
SMART |
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
low complexity region
|
791 |
804 |
N/A |
INTRINSIC |
low complexity region
|
813 |
830 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000194446
AA Change: K62E
|
Meta Mutation Damage Score |
0.0931 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
98% (148/151) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the microtubule-associated serine/threonine protein kinases. The proteins in this family contain a domain that gives the kinase the ability to determine its own scaffold to control the effects of their kinase activities. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit malocclusion. [provided by MGI curators]
|
Allele List at MGI |
All alleles(8) : Gene trapped(8)
|
Other mutations in this stock |
Total: 150 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,775,632 (GRCm39) |
L1607P |
probably damaging |
Het |
1700016H13Rik |
T |
C |
5: 103,796,687 (GRCm39) |
*118W |
probably null |
Het |
4930595M18Rik |
G |
T |
X: 80,464,537 (GRCm39) |
T390N |
possibly damaging |
Het |
Abca13 |
C |
T |
11: 9,241,238 (GRCm39) |
Q1034* |
probably null |
Het |
Acsbg3 |
A |
T |
17: 57,190,835 (GRCm39) |
N468Y |
probably benign |
Het |
Adgra3 |
T |
C |
5: 50,118,065 (GRCm39) |
H1161R |
probably damaging |
Het |
Aff1 |
T |
C |
5: 103,974,004 (GRCm39) |
|
probably benign |
Het |
Agap2 |
A |
G |
10: 126,927,571 (GRCm39) |
T1131A |
possibly damaging |
Het |
Ankrd12 |
A |
G |
17: 66,292,127 (GRCm39) |
V1102A |
probably benign |
Het |
Ankrd54 |
A |
T |
15: 78,946,931 (GRCm39) |
C23S |
probably damaging |
Het |
Anxa10 |
C |
T |
8: 62,531,001 (GRCm39) |
V70I |
probably benign |
Het |
Asap3 |
T |
C |
4: 135,961,636 (GRCm39) |
|
probably benign |
Het |
Asb13 |
T |
C |
13: 3,695,052 (GRCm39) |
|
probably null |
Het |
Atp6v1a |
A |
T |
16: 43,922,055 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
G |
18: 64,697,612 (GRCm39) |
I411L |
probably benign |
Het |
Baiap3 |
T |
A |
17: 25,468,075 (GRCm39) |
N313I |
probably damaging |
Het |
Bok |
T |
C |
1: 93,614,209 (GRCm39) |
I14T |
probably benign |
Het |
Bri3bp |
T |
A |
5: 125,518,808 (GRCm39) |
|
probably null |
Het |
C2cd2l |
A |
G |
9: 44,227,499 (GRCm39) |
L186P |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,679,702 (GRCm39) |
C44S |
probably damaging |
Het |
Capn11 |
T |
C |
17: 45,949,807 (GRCm39) |
|
probably benign |
Het |
Carm1 |
T |
A |
9: 21,480,887 (GRCm39) |
|
probably benign |
Het |
Ccdc27 |
T |
C |
4: 154,120,941 (GRCm39) |
E285G |
unknown |
Het |
Cct3 |
T |
A |
3: 88,220,864 (GRCm39) |
D298E |
probably damaging |
Het |
Cd59b |
T |
A |
2: 103,911,331 (GRCm39) |
|
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,762,633 (GRCm39) |
N437S |
probably benign |
Het |
Celsr3 |
T |
A |
9: 108,719,832 (GRCm39) |
I2470N |
probably damaging |
Het |
Cfap100 |
G |
A |
6: 90,392,888 (GRCm39) |
|
probably benign |
Het |
Cfap119 |
T |
C |
7: 127,184,034 (GRCm39) |
E261G |
probably damaging |
Het |
Cfap45 |
A |
T |
1: 172,359,756 (GRCm39) |
R98S |
possibly damaging |
Het |
Cfap54 |
T |
A |
10: 92,706,531 (GRCm39) |
H2757L |
unknown |
Het |
Chd1 |
C |
A |
17: 15,945,693 (GRCm39) |
N72K |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,644,501 (GRCm39) |
|
probably benign |
Het |
Cstf2t |
A |
T |
19: 31,062,026 (GRCm39) |
M521L |
probably benign |
Het |
Daam2 |
A |
T |
17: 49,805,911 (GRCm39) |
|
probably benign |
Het |
Ddias |
A |
T |
7: 92,508,545 (GRCm39) |
W457R |
probably benign |
Het |
Ddr2 |
C |
T |
1: 169,822,198 (GRCm39) |
V417I |
probably benign |
Het |
Dhx57 |
T |
C |
17: 80,577,800 (GRCm39) |
T570A |
probably damaging |
Het |
Dmp1 |
A |
G |
5: 104,355,496 (GRCm39) |
E32G |
possibly damaging |
Het |
Dtymk |
C |
T |
1: 93,729,510 (GRCm39) |
V14M |
possibly damaging |
Het |
Dync2li1 |
G |
A |
17: 84,956,699 (GRCm39) |
M286I |
probably benign |
Het |
Eea1 |
G |
A |
10: 95,857,529 (GRCm39) |
D664N |
possibly damaging |
Het |
Esp6 |
G |
T |
17: 40,876,287 (GRCm39) |
V112L |
probably benign |
Het |
Fam83h |
G |
T |
15: 75,878,018 (GRCm39) |
Q127K |
probably damaging |
Het |
Gabbr2 |
G |
A |
4: 46,677,474 (GRCm39) |
T802I |
probably benign |
Het |
Gart |
C |
A |
16: 91,420,291 (GRCm39) |
D851Y |
possibly damaging |
Het |
Gemin6 |
T |
A |
17: 80,535,524 (GRCm39) |
H161Q |
probably damaging |
Het |
Gm10912 |
T |
C |
2: 103,896,875 (GRCm39) |
S5P |
probably benign |
Het |
Gm5941 |
G |
A |
X: 91,533,817 (GRCm39) |
A62T |
possibly damaging |
Het |
Gng2 |
G |
T |
14: 19,941,363 (GRCm39) |
D26E |
probably benign |
Het |
Gpr33 |
A |
G |
12: 52,070,418 (GRCm39) |
V207A |
probably benign |
Het |
Gstm3 |
T |
A |
3: 107,873,586 (GRCm39) |
|
probably benign |
Het |
Havcr1 |
T |
C |
11: 46,643,259 (GRCm39) |
C60R |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,268,751 (GRCm39) |
S2157P |
probably benign |
Het |
Ift140 |
A |
G |
17: 25,309,907 (GRCm39) |
T1105A |
probably benign |
Het |
Igsf8 |
C |
A |
1: 172,143,826 (GRCm39) |
A56D |
possibly damaging |
Het |
Kat6a |
G |
T |
8: 23,352,230 (GRCm39) |
A5S |
probably damaging |
Het |
Kctd16 |
A |
G |
18: 40,663,828 (GRCm39) |
E319G |
probably damaging |
Het |
Kmo |
T |
C |
1: 175,474,706 (GRCm39) |
V157A |
possibly damaging |
Het |
Lrp5 |
T |
A |
19: 3,655,308 (GRCm39) |
I1071F |
probably damaging |
Het |
Lrrc17 |
A |
G |
5: 21,766,276 (GRCm39) |
T253A |
probably benign |
Het |
Mast2 |
T |
A |
4: 116,168,964 (GRCm39) |
H769L |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,146,701 (GRCm39) |
T304A |
possibly damaging |
Het |
Mbp |
T |
C |
18: 82,590,995 (GRCm39) |
S73P |
probably damaging |
Het |
Mc5r |
T |
A |
18: 68,472,163 (GRCm39) |
V174E |
probably damaging |
Het |
Med13 |
T |
A |
11: 86,197,864 (GRCm39) |
T736S |
probably benign |
Het |
Med13l |
T |
C |
5: 118,809,067 (GRCm39) |
|
probably benign |
Het |
Minar1 |
T |
C |
9: 89,484,470 (GRCm39) |
H309R |
probably benign |
Het |
Mlh3 |
C |
G |
12: 85,282,488 (GRCm39) |
A1382P |
possibly damaging |
Het |
Mpdz |
T |
C |
4: 81,278,228 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,350,002 (GRCm39) |
T582A |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,702,152 (GRCm39) |
F453S |
probably damaging |
Het |
Nrap |
T |
A |
19: 56,333,906 (GRCm39) |
M902L |
probably damaging |
Het |
Nup85 |
C |
T |
11: 115,459,196 (GRCm39) |
R100* |
probably null |
Het |
Nxf1 |
T |
G |
19: 8,741,955 (GRCm39) |
N296K |
probably damaging |
Het |
Ogg1 |
A |
G |
6: 113,305,381 (GRCm39) |
T65A |
probably damaging |
Het |
Ogt |
A |
G |
X: 100,687,805 (GRCm39) |
|
probably benign |
Het |
Or4c10 |
A |
G |
2: 89,760,545 (GRCm39) |
T131A |
probably benign |
Het |
Or4k48 |
C |
T |
2: 111,476,136 (GRCm39) |
V69I |
probably benign |
Het |
Or51e1 |
T |
A |
7: 102,359,202 (GRCm39) |
H245Q |
probably damaging |
Het |
Or56b1b |
T |
A |
7: 108,164,483 (GRCm39) |
N173I |
probably benign |
Het |
Ovol2 |
T |
C |
2: 144,173,710 (GRCm39) |
D24G |
probably damaging |
Het |
Pabpc1 |
A |
G |
15: 36,599,298 (GRCm39) |
|
probably benign |
Het |
Pak6 |
T |
C |
2: 118,524,168 (GRCm39) |
L441P |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,107,552 (GRCm39) |
C654* |
probably null |
Het |
Paqr6 |
T |
A |
3: 88,273,298 (GRCm39) |
S97T |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,678,888 (GRCm39) |
N360S |
probably benign |
Het |
Pclo |
G |
T |
5: 14,727,873 (GRCm39) |
G2244* |
probably null |
Het |
Pdzrn3 |
A |
T |
6: 101,132,903 (GRCm39) |
|
probably null |
Het |
Pes1 |
T |
C |
11: 3,925,557 (GRCm39) |
M220T |
probably damaging |
Het |
Phip |
A |
T |
9: 82,758,274 (GRCm39) |
V1473E |
probably benign |
Het |
Pkd2l2 |
T |
A |
18: 34,563,321 (GRCm39) |
|
probably null |
Het |
Plch1 |
T |
C |
3: 63,660,677 (GRCm39) |
D302G |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,925,459 (GRCm39) |
T1419A |
probably benign |
Het |
Ppara |
A |
T |
15: 85,682,372 (GRCm39) |
E356V |
probably damaging |
Het |
Ppp1r37 |
G |
A |
7: 19,266,102 (GRCm39) |
P555S |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,642,709 (GRCm39) |
E545G |
possibly damaging |
Het |
Proser3 |
G |
A |
7: 30,240,124 (GRCm39) |
H327Y |
probably damaging |
Het |
Prss43 |
T |
A |
9: 110,658,576 (GRCm39) |
I292N |
probably damaging |
Het |
Pwwp3b |
T |
A |
X: 138,136,444 (GRCm39) |
D327E |
probably damaging |
Het |
Pygl |
G |
C |
12: 70,253,178 (GRCm39) |
N271K |
probably damaging |
Het |
Rassf7 |
T |
A |
7: 140,796,903 (GRCm39) |
|
probably benign |
Het |
Rfx2 |
T |
C |
17: 57,110,722 (GRCm39) |
Y88C |
probably damaging |
Het |
Rpl6 |
T |
C |
5: 121,346,541 (GRCm39) |
V214A |
probably benign |
Het |
Rspo1 |
T |
A |
4: 124,885,225 (GRCm39) |
|
probably null |
Het |
Sav1 |
A |
C |
12: 70,012,979 (GRCm39) |
L366V |
probably benign |
Het |
Sema3b |
T |
G |
9: 107,481,355 (GRCm39) |
T52P |
possibly damaging |
Het |
Senp6 |
A |
G |
9: 80,023,841 (GRCm39) |
D40G |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,256,646 (GRCm39) |
S719P |
probably damaging |
Het |
Shank1 |
C |
T |
7: 44,001,718 (GRCm39) |
R1146W |
unknown |
Het |
Slc34a3 |
G |
T |
2: 25,121,245 (GRCm39) |
D307E |
probably benign |
Het |
Slc35b3 |
T |
C |
13: 39,121,251 (GRCm39) |
I330V |
probably benign |
Het |
Slc4a10 |
G |
A |
2: 62,073,742 (GRCm39) |
C268Y |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,349,124 (GRCm39) |
E65G |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,402,915 (GRCm39) |
|
probably benign |
Het |
Smcr8 |
T |
C |
11: 60,668,941 (GRCm39) |
Y30H |
probably damaging |
Het |
Snap47 |
A |
G |
11: 59,329,326 (GRCm39) |
|
probably benign |
Het |
Snrnp25 |
G |
A |
11: 32,156,960 (GRCm39) |
V15I |
probably damaging |
Het |
Spns2 |
T |
C |
11: 72,345,223 (GRCm39) |
Y449C |
probably damaging |
Het |
Stab2 |
T |
A |
10: 86,760,314 (GRCm39) |
|
probably benign |
Het |
Strip1 |
C |
A |
3: 107,521,929 (GRCm39) |
D750Y |
probably damaging |
Het |
Taf1c |
A |
T |
8: 120,326,722 (GRCm39) |
I438N |
probably damaging |
Het |
Tbc1d2 |
T |
A |
4: 46,609,003 (GRCm39) |
K745* |
probably null |
Het |
Tctn1 |
T |
C |
5: 122,402,207 (GRCm39) |
T76A |
probably damaging |
Het |
Tesl1 |
A |
T |
X: 23,773,290 (GRCm39) |
I264F |
probably benign |
Het |
Tfpi |
T |
C |
2: 84,273,664 (GRCm39) |
|
probably benign |
Het |
Timm44 |
A |
T |
8: 4,316,592 (GRCm39) |
H317Q |
probably benign |
Het |
Tnfaip1 |
A |
T |
11: 78,420,840 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
T |
6: 29,554,992 (GRCm39) |
|
probably benign |
Het |
Top3b |
T |
C |
16: 16,697,301 (GRCm39) |
|
probably benign |
Het |
Trak1 |
T |
A |
9: 121,282,351 (GRCm39) |
M410K |
possibly damaging |
Het |
Trpm3 |
C |
A |
19: 22,956,018 (GRCm39) |
P1160Q |
probably damaging |
Het |
Tyk2 |
T |
A |
9: 21,022,433 (GRCm39) |
T799S |
possibly damaging |
Het |
Ubfd1 |
G |
A |
7: 121,666,714 (GRCm39) |
|
probably benign |
Het |
Unc13a |
G |
A |
8: 72,094,817 (GRCm39) |
R1272* |
probably null |
Het |
Unc45b |
T |
A |
11: 82,831,031 (GRCm39) |
L797Q |
possibly damaging |
Het |
Urb2 |
C |
T |
8: 124,757,709 (GRCm39) |
Q1139* |
probably null |
Het |
Vmn2r66 |
A |
T |
7: 84,657,070 (GRCm39) |
S112T |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,272,842 (GRCm39) |
D552V |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,877,904 (GRCm39) |
Y498H |
probably benign |
Het |
Vmn2r84 |
A |
C |
10: 130,226,984 (GRCm39) |
W285G |
probably damaging |
Het |
Vps72 |
G |
T |
3: 95,029,894 (GRCm39) |
L304F |
probably damaging |
Het |
Wiz |
A |
T |
17: 32,575,415 (GRCm39) |
I907N |
probably damaging |
Het |
Yaf2 |
T |
C |
15: 93,183,417 (GRCm39) |
K131R |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,125,480 (GRCm39) |
Y331N |
possibly damaging |
Het |
Zfp324 |
G |
T |
7: 12,704,951 (GRCm39) |
C380F |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 13,978,119 (GRCm39) |
T765A |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,976,500 (GRCm39) |
H923L |
probably damaging |
Het |
Zfpm1 |
C |
T |
8: 123,062,585 (GRCm39) |
T548M |
probably damaging |
Het |
Zp2 |
A |
T |
7: 119,742,799 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Mast4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Mast4
|
APN |
13 |
102,907,275 (GRCm39) |
nonsense |
probably null |
|
IGL00933:Mast4
|
APN |
13 |
102,871,874 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01113:Mast4
|
APN |
13 |
102,910,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01461:Mast4
|
APN |
13 |
102,890,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01569:Mast4
|
APN |
13 |
102,897,523 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01697:Mast4
|
APN |
13 |
102,904,401 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01725:Mast4
|
APN |
13 |
102,887,020 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01734:Mast4
|
APN |
13 |
102,874,123 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01738:Mast4
|
APN |
13 |
102,873,749 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01739:Mast4
|
APN |
13 |
102,910,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02299:Mast4
|
APN |
13 |
102,874,482 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02479:Mast4
|
APN |
13 |
102,878,545 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02485:Mast4
|
APN |
13 |
102,872,004 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02528:Mast4
|
APN |
13 |
102,990,331 (GRCm39) |
makesense |
probably null |
|
IGL02850:Mast4
|
APN |
13 |
102,890,740 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Mast4
|
APN |
13 |
102,872,184 (GRCm39) |
missense |
probably benign |
|
IGL03064:Mast4
|
APN |
13 |
102,897,472 (GRCm39) |
nonsense |
probably null |
|
IGL03124:Mast4
|
APN |
13 |
102,874,753 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03146:Mast4
|
APN |
13 |
102,874,163 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03221:Mast4
|
APN |
13 |
102,890,764 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03284:Mast4
|
APN |
13 |
102,887,905 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03406:Mast4
|
APN |
13 |
102,873,615 (GRCm39) |
missense |
possibly damaging |
0.46 |
buck
|
UTSW |
13 |
102,897,801 (GRCm39) |
critical splice donor site |
probably null |
|
doe
|
UTSW |
13 |
103,042,185 (GRCm39) |
missense |
possibly damaging |
0.85 |
skinnybones
|
UTSW |
13 |
102,941,149 (GRCm39) |
critical splice donor site |
probably null |
|
BB010:Mast4
|
UTSW |
13 |
102,909,071 (GRCm39) |
missense |
probably damaging |
0.99 |
BB020:Mast4
|
UTSW |
13 |
102,909,071 (GRCm39) |
missense |
probably damaging |
0.99 |
FR4304:Mast4
|
UTSW |
13 |
102,871,370 (GRCm39) |
utr 3 prime |
probably benign |
|
FR4340:Mast4
|
UTSW |
13 |
102,872,825 (GRCm39) |
small insertion |
probably benign |
|
FR4340:Mast4
|
UTSW |
13 |
102,871,365 (GRCm39) |
frame shift |
probably null |
|
FR4548:Mast4
|
UTSW |
13 |
102,872,826 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Mast4
|
UTSW |
13 |
102,875,755 (GRCm39) |
frame shift |
probably null |
|
FR4976:Mast4
|
UTSW |
13 |
102,872,820 (GRCm39) |
small insertion |
probably benign |
|
NA:Mast4
|
UTSW |
13 |
102,878,565 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4466001:Mast4
|
UTSW |
13 |
102,941,226 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4469001:Mast4
|
UTSW |
13 |
102,941,226 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Mast4
|
UTSW |
13 |
102,941,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Mast4
|
UTSW |
13 |
102,878,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R0063:Mast4
|
UTSW |
13 |
103,470,723 (GRCm39) |
start gained |
probably benign |
|
R0242:Mast4
|
UTSW |
13 |
102,990,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R0310:Mast4
|
UTSW |
13 |
102,890,669 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0395:Mast4
|
UTSW |
13 |
102,871,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0454:Mast4
|
UTSW |
13 |
102,888,068 (GRCm39) |
missense |
probably damaging |
1.00 |
R0646:Mast4
|
UTSW |
13 |
102,895,252 (GRCm39) |
splice site |
probably benign |
|
R0744:Mast4
|
UTSW |
13 |
102,873,895 (GRCm39) |
missense |
probably damaging |
0.98 |
R0905:Mast4
|
UTSW |
13 |
102,907,292 (GRCm39) |
missense |
probably damaging |
0.99 |
R1023:Mast4
|
UTSW |
13 |
102,872,004 (GRCm39) |
missense |
probably benign |
0.02 |
R1281:Mast4
|
UTSW |
13 |
102,887,086 (GRCm39) |
missense |
probably damaging |
1.00 |
R1376:Mast4
|
UTSW |
13 |
102,872,916 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1376:Mast4
|
UTSW |
13 |
102,872,916 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1473:Mast4
|
UTSW |
13 |
102,909,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R1572:Mast4
|
UTSW |
13 |
102,873,431 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1575:Mast4
|
UTSW |
13 |
102,875,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1865:Mast4
|
UTSW |
13 |
102,930,625 (GRCm39) |
missense |
probably damaging |
1.00 |
R2050:Mast4
|
UTSW |
13 |
102,887,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Mast4
|
UTSW |
13 |
102,875,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R2062:Mast4
|
UTSW |
13 |
102,895,601 (GRCm39) |
missense |
probably benign |
0.18 |
R2106:Mast4
|
UTSW |
13 |
102,887,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Mast4
|
UTSW |
13 |
102,890,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Mast4
|
UTSW |
13 |
102,871,983 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2256:Mast4
|
UTSW |
13 |
102,872,259 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2261:Mast4
|
UTSW |
13 |
102,934,715 (GRCm39) |
splice site |
probably benign |
|
R2370:Mast4
|
UTSW |
13 |
102,910,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Mast4
|
UTSW |
13 |
102,875,147 (GRCm39) |
missense |
probably damaging |
0.96 |
R2509:Mast4
|
UTSW |
13 |
102,990,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R2842:Mast4
|
UTSW |
13 |
102,872,939 (GRCm39) |
missense |
probably benign |
0.01 |
R3087:Mast4
|
UTSW |
13 |
102,990,434 (GRCm39) |
splice site |
probably benign |
|
R3434:Mast4
|
UTSW |
13 |
102,923,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R3435:Mast4
|
UTSW |
13 |
102,923,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R3763:Mast4
|
UTSW |
13 |
102,923,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R3826:Mast4
|
UTSW |
13 |
102,875,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R3829:Mast4
|
UTSW |
13 |
102,875,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R3830:Mast4
|
UTSW |
13 |
102,875,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R3913:Mast4
|
UTSW |
13 |
102,895,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R3914:Mast4
|
UTSW |
13 |
102,875,829 (GRCm39) |
nonsense |
probably null |
|
R4021:Mast4
|
UTSW |
13 |
102,875,829 (GRCm39) |
nonsense |
probably null |
|
R4022:Mast4
|
UTSW |
13 |
102,990,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R4022:Mast4
|
UTSW |
13 |
102,875,829 (GRCm39) |
nonsense |
probably null |
|
R4210:Mast4
|
UTSW |
13 |
102,875,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R4342:Mast4
|
UTSW |
13 |
102,910,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R4580:Mast4
|
UTSW |
13 |
102,873,766 (GRCm39) |
nonsense |
probably null |
|
R4627:Mast4
|
UTSW |
13 |
103,470,529 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4711:Mast4
|
UTSW |
13 |
103,470,627 (GRCm39) |
missense |
probably benign |
0.01 |
R4732:Mast4
|
UTSW |
13 |
102,909,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R4733:Mast4
|
UTSW |
13 |
102,909,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R4833:Mast4
|
UTSW |
13 |
102,910,692 (GRCm39) |
critical splice donor site |
probably null |
|
R4995:Mast4
|
UTSW |
13 |
103,042,262 (GRCm39) |
intron |
probably benign |
|
R5059:Mast4
|
UTSW |
13 |
102,887,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R5073:Mast4
|
UTSW |
13 |
102,875,391 (GRCm39) |
nonsense |
probably null |
|
R5101:Mast4
|
UTSW |
13 |
102,872,864 (GRCm39) |
missense |
probably benign |
0.01 |
R5526:Mast4
|
UTSW |
13 |
102,890,723 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5599:Mast4
|
UTSW |
13 |
102,873,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Mast4
|
UTSW |
13 |
102,930,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5694:Mast4
|
UTSW |
13 |
102,910,701 (GRCm39) |
nonsense |
probably null |
|
R5906:Mast4
|
UTSW |
13 |
102,872,252 (GRCm39) |
missense |
probably benign |
0.31 |
R5908:Mast4
|
UTSW |
13 |
102,874,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R5947:Mast4
|
UTSW |
13 |
102,872,148 (GRCm39) |
missense |
probably benign |
|
R5987:Mast4
|
UTSW |
13 |
102,895,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R6143:Mast4
|
UTSW |
13 |
102,990,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R6154:Mast4
|
UTSW |
13 |
102,923,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R6169:Mast4
|
UTSW |
13 |
102,923,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R6239:Mast4
|
UTSW |
13 |
102,872,717 (GRCm39) |
missense |
probably benign |
0.01 |
R6327:Mast4
|
UTSW |
13 |
102,897,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R6356:Mast4
|
UTSW |
13 |
102,872,493 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6432:Mast4
|
UTSW |
13 |
103,042,185 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6522:Mast4
|
UTSW |
13 |
102,897,801 (GRCm39) |
critical splice donor site |
probably null |
|
R6667:Mast4
|
UTSW |
13 |
102,874,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R6941:Mast4
|
UTSW |
13 |
102,941,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R6968:Mast4
|
UTSW |
13 |
102,941,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6968:Mast4
|
UTSW |
13 |
102,934,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R6970:Mast4
|
UTSW |
13 |
102,941,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6980:Mast4
|
UTSW |
13 |
102,941,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6991:Mast4
|
UTSW |
13 |
102,941,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Mast4
|
UTSW |
13 |
102,941,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6993:Mast4
|
UTSW |
13 |
102,872,482 (GRCm39) |
missense |
probably benign |
0.28 |
R6993:Mast4
|
UTSW |
13 |
102,941,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7083:Mast4
|
UTSW |
13 |
102,874,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Mast4
|
UTSW |
13 |
103,470,508 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7242:Mast4
|
UTSW |
13 |
102,874,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R7246:Mast4
|
UTSW |
13 |
102,930,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R7332:Mast4
|
UTSW |
13 |
102,887,932 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7453:Mast4
|
UTSW |
13 |
102,941,149 (GRCm39) |
critical splice donor site |
probably null |
|
R7514:Mast4
|
UTSW |
13 |
102,923,934 (GRCm39) |
nonsense |
probably null |
|
R7697:Mast4
|
UTSW |
13 |
102,875,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R7820:Mast4
|
UTSW |
13 |
102,890,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R7874:Mast4
|
UTSW |
13 |
102,875,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R7933:Mast4
|
UTSW |
13 |
102,909,071 (GRCm39) |
missense |
probably damaging |
0.99 |
R8042:Mast4
|
UTSW |
13 |
102,917,753 (GRCm39) |
missense |
probably damaging |
0.96 |
R8060:Mast4
|
UTSW |
13 |
102,874,184 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8172:Mast4
|
UTSW |
13 |
103,089,633 (GRCm39) |
critical splice donor site |
probably null |
|
R8206:Mast4
|
UTSW |
13 |
102,872,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R8248:Mast4
|
UTSW |
13 |
102,875,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8283:Mast4
|
UTSW |
13 |
102,895,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R8346:Mast4
|
UTSW |
13 |
102,887,986 (GRCm39) |
missense |
probably damaging |
0.99 |
R8434:Mast4
|
UTSW |
13 |
102,897,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8796:Mast4
|
UTSW |
13 |
102,919,899 (GRCm39) |
missense |
probably benign |
0.07 |
R8850:Mast4
|
UTSW |
13 |
102,895,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R9012:Mast4
|
UTSW |
13 |
102,934,606 (GRCm39) |
missense |
probably benign |
0.05 |
R9375:Mast4
|
UTSW |
13 |
102,917,753 (GRCm39) |
missense |
probably damaging |
0.99 |
R9389:Mast4
|
UTSW |
13 |
103,470,438 (GRCm39) |
missense |
probably benign |
0.00 |
R9404:Mast4
|
UTSW |
13 |
102,887,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R9520:Mast4
|
UTSW |
13 |
102,925,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R9525:Mast4
|
UTSW |
13 |
102,872,944 (GRCm39) |
missense |
probably benign |
0.00 |
R9526:Mast4
|
UTSW |
13 |
102,873,593 (GRCm39) |
missense |
probably benign |
0.00 |
R9709:Mast4
|
UTSW |
13 |
102,910,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R9790:Mast4
|
UTSW |
13 |
102,890,705 (GRCm39) |
missense |
probably benign |
0.01 |
R9791:Mast4
|
UTSW |
13 |
102,890,705 (GRCm39) |
missense |
probably benign |
0.01 |
RF005:Mast4
|
UTSW |
13 |
102,872,815 (GRCm39) |
small insertion |
probably benign |
|
RF015:Mast4
|
UTSW |
13 |
102,875,755 (GRCm39) |
frame shift |
probably null |
|
RF019:Mast4
|
UTSW |
13 |
102,872,815 (GRCm39) |
small insertion |
probably benign |
|
RF037:Mast4
|
UTSW |
13 |
102,875,749 (GRCm39) |
small deletion |
probably benign |
|
RF039:Mast4
|
UTSW |
13 |
102,875,749 (GRCm39) |
small deletion |
probably benign |
|
RF040:Mast4
|
UTSW |
13 |
102,875,749 (GRCm39) |
small deletion |
probably benign |
|
Z1088:Mast4
|
UTSW |
13 |
102,875,027 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Mast4
|
UTSW |
13 |
102,874,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGACTGCCTGCTAGACACTTTTC -3'
(R):5'- CCCATGTTAGTGAGCACACACCAG -3'
Sequencing Primer
(F):5'- CTAATGGGCAAATACGTCTGACTG -3'
(R):5'- TTAGTGAGCACACACCAGTTCTC -3'
|
Posted On |
2013-11-07 |