Incidental Mutation 'R1472:Cntrl'
ID |
164962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cntrl
|
Ensembl Gene |
ENSMUSG00000057110 |
Gene Name |
centriolin |
Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
MMRRC Submission |
039525-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.909)
|
Stock # |
R1472 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 35059329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000124081]
[ENSMUST00000156933]
|
AlphaFold |
A2AL36 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028237
|
SMART Domains |
Protein: ENSMUSP00000028237 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113032
|
SMART Domains |
Protein: ENSMUSP00000108655 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113034
|
SMART Domains |
Protein: ENSMUSP00000108657 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
internal_repeat_3
|
261 |
278 |
5.68e-5 |
PROSPERO |
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
coiled coil region
|
445 |
549 |
N/A |
INTRINSIC |
internal_repeat_1
|
566 |
579 |
1.52e-6 |
PROSPERO |
internal_repeat_2
|
568 |
596 |
2.75e-5 |
PROSPERO |
low complexity region
|
600 |
608 |
N/A |
INTRINSIC |
internal_repeat_2
|
626 |
653 |
2.75e-5 |
PROSPERO |
low complexity region
|
715 |
748 |
N/A |
INTRINSIC |
coiled coil region
|
767 |
1076 |
N/A |
INTRINSIC |
internal_repeat_3
|
1095 |
1112 |
5.68e-5 |
PROSPERO |
low complexity region
|
1184 |
1224 |
N/A |
INTRINSIC |
low complexity region
|
1344 |
1356 |
N/A |
INTRINSIC |
low complexity region
|
1366 |
1388 |
N/A |
INTRINSIC |
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
low complexity region
|
1421 |
1432 |
N/A |
INTRINSIC |
low complexity region
|
1640 |
1655 |
N/A |
INTRINSIC |
internal_repeat_1
|
1699 |
1712 |
1.52e-6 |
PROSPERO |
low complexity region
|
1736 |
1754 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113037
|
SMART Domains |
Protein: ENSMUSP00000108660 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124081
|
SMART Domains |
Protein: ENSMUSP00000143087 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130457
|
Predicted Effect |
probably null
Transcript: ENSMUST00000136047
|
SMART Domains |
Protein: ENSMUSP00000123185 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
171 |
N/A |
INTRINSIC |
coiled coil region
|
203 |
697 |
N/A |
INTRINSIC |
low complexity region
|
735 |
750 |
N/A |
INTRINSIC |
coiled coil region
|
779 |
801 |
N/A |
INTRINSIC |
low complexity region
|
831 |
849 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000142757
|
SMART Domains |
Protein: ENSMUSP00000123300 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
171 |
N/A |
INTRINSIC |
coiled coil region
|
203 |
697 |
N/A |
INTRINSIC |
low complexity region
|
735 |
750 |
N/A |
INTRINSIC |
coiled coil region
|
779 |
801 |
N/A |
INTRINSIC |
low complexity region
|
831 |
849 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156933
|
SMART Domains |
Protein: ENSMUSP00000118731 Gene: ENSMUSG00000057110
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
LRR
|
146 |
167 |
2.54e1 |
SMART |
LRR
|
168 |
190 |
3.24e0 |
SMART |
LRR
|
192 |
214 |
7.16e0 |
SMART |
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,773,313 (GRCm39) |
T834M |
possibly damaging |
Het |
Ak1 |
T |
C |
2: 32,520,313 (GRCm39) |
L32P |
probably damaging |
Het |
Ankrd24 |
A |
G |
10: 81,470,754 (GRCm39) |
D61G |
probably damaging |
Het |
Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Bmp10 |
A |
G |
6: 87,410,779 (GRCm39) |
I191V |
probably benign |
Het |
C2cd6 |
A |
T |
1: 59,106,944 (GRCm39) |
S294T |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,962,743 (GRCm39) |
K20* |
probably null |
Het |
Caps2 |
C |
T |
10: 112,015,377 (GRCm39) |
T139I |
probably benign |
Het |
Cdc25a |
T |
C |
9: 109,705,157 (GRCm39) |
S34P |
probably benign |
Het |
Cenpv |
T |
C |
11: 62,427,121 (GRCm39) |
I146V |
probably benign |
Het |
Cep57 |
A |
T |
9: 13,732,850 (GRCm39) |
F32I |
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,675,224 (GRCm39) |
V1299A |
probably damaging |
Het |
Cpne6 |
T |
C |
14: 55,752,092 (GRCm39) |
V283A |
probably benign |
Het |
Crot |
A |
G |
5: 9,016,941 (GRCm39) |
C584R |
probably damaging |
Het |
Ctsc |
A |
C |
7: 87,930,670 (GRCm39) |
H83P |
possibly damaging |
Het |
Dido1 |
T |
C |
2: 180,302,513 (GRCm39) |
N1797S |
probably benign |
Het |
Dlgap4 |
C |
T |
2: 156,602,821 (GRCm39) |
Q148* |
probably null |
Het |
Dnah3 |
T |
C |
7: 119,670,181 (GRCm39) |
D688G |
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,843,472 (GRCm39) |
E138G |
probably benign |
Het |
Edc4 |
T |
A |
8: 106,619,460 (GRCm39) |
M1396K |
probably damaging |
Het |
Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
Hsd3b6 |
A |
T |
3: 98,715,255 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
A |
17: 27,333,199 (GRCm39) |
I1937N |
probably benign |
Het |
Kcnk15 |
C |
A |
2: 163,700,127 (GRCm39) |
T103K |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,864,541 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
A |
18: 12,615,102 (GRCm39) |
F1342Y |
probably benign |
Het |
Lilra6 |
A |
T |
7: 3,915,718 (GRCm39) |
M98K |
probably damaging |
Het |
Map3k21 |
T |
C |
8: 126,668,417 (GRCm39) |
S668P |
probably benign |
Het |
Mcpt8 |
T |
C |
14: 56,319,791 (GRCm39) |
T220A |
probably benign |
Het |
Mettl13 |
C |
T |
1: 162,364,736 (GRCm39) |
V548I |
possibly damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,767,860 (GRCm39) |
M411T |
probably benign |
Het |
Mrfap1 |
A |
G |
5: 36,953,817 (GRCm39) |
S41P |
possibly damaging |
Het |
Mroh2b |
A |
G |
15: 4,978,137 (GRCm39) |
I1302V |
probably benign |
Het |
Mrpl45 |
C |
T |
11: 97,214,681 (GRCm39) |
R123* |
probably null |
Het |
Mstn |
T |
A |
1: 53,101,157 (GRCm39) |
I78K |
probably damaging |
Het |
Mtdh |
T |
C |
15: 34,114,191 (GRCm39) |
S168P |
possibly damaging |
Het |
Muc15 |
G |
T |
2: 110,561,905 (GRCm39) |
V114F |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
Myocd |
G |
T |
11: 65,078,330 (GRCm39) |
H360Q |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,563,802 (GRCm39) |
E1627G |
probably damaging |
Het |
Nlrp14 |
T |
C |
7: 106,781,910 (GRCm39) |
L369P |
probably benign |
Het |
Nlrp6 |
A |
G |
7: 140,503,408 (GRCm39) |
T505A |
probably damaging |
Het |
Npbwr1 |
T |
C |
1: 5,986,900 (GRCm39) |
S205G |
probably damaging |
Het |
Nsmaf |
G |
A |
4: 6,423,448 (GRCm39) |
R307* |
probably null |
Het |
Or5h19 |
A |
T |
16: 58,856,920 (GRCm39) |
L60Q |
probably damaging |
Het |
Or9i1b |
T |
C |
19: 13,897,208 (GRCm39) |
S275P |
probably damaging |
Het |
Parp9 |
T |
G |
16: 35,774,050 (GRCm39) |
S341A |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,289,533 (GRCm39) |
N346S |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,263,360 (GRCm39) |
F503Y |
probably damaging |
Het |
Polr1e |
G |
T |
4: 45,028,026 (GRCm39) |
A290S |
probably damaging |
Het |
Ppp1r21 |
A |
T |
17: 88,866,033 (GRCm39) |
H305L |
probably damaging |
Het |
Prss47 |
A |
G |
13: 65,197,103 (GRCm39) |
L117P |
probably damaging |
Het |
Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
Rcn2 |
C |
T |
9: 55,963,537 (GRCm39) |
P222L |
probably benign |
Het |
Rnf144b |
T |
C |
13: 47,396,361 (GRCm39) |
Y233H |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,665,436 (GRCm39) |
L196P |
probably damaging |
Het |
Sik2 |
A |
G |
9: 50,920,111 (GRCm39) |
I22T |
probably damaging |
Het |
Sis |
A |
G |
3: 72,796,360 (GRCm39) |
V1807A |
probably benign |
Het |
Slc1a2 |
T |
A |
2: 102,568,254 (GRCm39) |
I88N |
probably damaging |
Het |
Slc22a22 |
A |
G |
15: 57,110,916 (GRCm39) |
F437S |
probably benign |
Het |
Slc39a13 |
A |
T |
2: 90,899,050 (GRCm39) |
C20* |
probably null |
Het |
Sos2 |
C |
T |
12: 69,632,090 (GRCm39) |
|
probably null |
Het |
Sst |
A |
G |
16: 23,709,448 (GRCm39) |
V16A |
probably benign |
Het |
Stab1 |
C |
T |
14: 30,863,543 (GRCm39) |
G2073D |
probably benign |
Het |
Stxbp1 |
A |
T |
2: 32,684,648 (GRCm39) |
S594T |
probably benign |
Het |
Sugct |
A |
T |
13: 17,627,131 (GRCm39) |
C241S |
probably benign |
Het |
Svil |
T |
A |
18: 5,048,950 (GRCm39) |
C76S |
probably benign |
Het |
Tcaf1 |
A |
G |
6: 42,663,382 (GRCm39) |
V166A |
possibly damaging |
Het |
Tmem131 |
A |
T |
1: 36,855,322 (GRCm39) |
N801K |
possibly damaging |
Het |
Tox3 |
T |
C |
8: 90,980,973 (GRCm39) |
N277S |
probably damaging |
Het |
Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
Trpm2 |
C |
A |
10: 77,801,841 (GRCm39) |
V75L |
probably damaging |
Het |
Tshz1 |
A |
C |
18: 84,031,930 (GRCm39) |
L826R |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,597,196 (GRCm39) |
V19906I |
probably damaging |
Het |
Wnt5a |
C |
T |
14: 28,240,461 (GRCm39) |
R184* |
probably null |
Het |
Wnt5b |
G |
A |
6: 119,410,442 (GRCm39) |
R333C |
probably damaging |
Het |
Zbtb6 |
T |
C |
2: 37,319,356 (GRCm39) |
T191A |
probably benign |
Het |
Zc3h4 |
A |
G |
7: 16,168,695 (GRCm39) |
N935D |
unknown |
Het |
Zc3h7a |
C |
T |
16: 10,978,890 (GRCm39) |
R95H |
probably damaging |
Het |
Zfp110 |
T |
C |
7: 12,582,468 (GRCm39) |
V372A |
possibly damaging |
Het |
Zmym2 |
C |
T |
14: 57,148,640 (GRCm39) |
S318L |
probably benign |
Het |
|
Other mutations in Cntrl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Cntrl
|
APN |
2 |
35,027,826 (GRCm39) |
splice site |
probably benign |
|
IGL00478:Cntrl
|
APN |
2 |
35,050,613 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01460:Cntrl
|
APN |
2 |
35,055,856 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01556:Cntrl
|
APN |
2 |
35,063,071 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02155:Cntrl
|
APN |
2 |
35,050,250 (GRCm39) |
splice site |
probably benign |
|
IGL02419:Cntrl
|
APN |
2 |
35,024,055 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4480001:Cntrl
|
UTSW |
2 |
35,045,440 (GRCm39) |
missense |
probably damaging |
0.96 |
R0179:Cntrl
|
UTSW |
2 |
35,057,871 (GRCm39) |
missense |
probably benign |
0.00 |
R0276:Cntrl
|
UTSW |
2 |
35,041,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0471:Cntrl
|
UTSW |
2 |
35,017,392 (GRCm39) |
missense |
probably benign |
0.41 |
R0755:Cntrl
|
UTSW |
2 |
35,035,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R0763:Cntrl
|
UTSW |
2 |
35,061,078 (GRCm39) |
missense |
probably benign |
|
R0781:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0791:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0792:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0801:Cntrl
|
UTSW |
2 |
35,065,107 (GRCm39) |
splice site |
probably benign |
|
R1067:Cntrl
|
UTSW |
2 |
35,039,034 (GRCm39) |
unclassified |
probably benign |
|
R1110:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1117:Cntrl
|
UTSW |
2 |
35,017,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R1457:Cntrl
|
UTSW |
2 |
35,012,768 (GRCm39) |
missense |
probably benign |
0.00 |
R1522:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1702:Cntrl
|
UTSW |
2 |
35,061,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1762:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R1785:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R1786:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R1812:Cntrl
|
UTSW |
2 |
35,039,481 (GRCm39) |
missense |
probably damaging |
0.97 |
R1854:Cntrl
|
UTSW |
2 |
35,012,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1863:Cntrl
|
UTSW |
2 |
35,008,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1868:Cntrl
|
UTSW |
2 |
35,019,827 (GRCm39) |
missense |
probably benign |
0.03 |
R1914:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
R1915:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
R2049:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R2118:Cntrl
|
UTSW |
2 |
35,051,977 (GRCm39) |
missense |
probably benign |
0.31 |
R2140:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R2142:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
R2203:Cntrl
|
UTSW |
2 |
35,033,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2300:Cntrl
|
UTSW |
2 |
35,017,525 (GRCm39) |
missense |
probably benign |
0.00 |
R2349:Cntrl
|
UTSW |
2 |
35,066,263 (GRCm39) |
missense |
probably benign |
0.18 |
R2374:Cntrl
|
UTSW |
2 |
35,043,288 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3429:Cntrl
|
UTSW |
2 |
35,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R3890:Cntrl
|
UTSW |
2 |
35,060,492 (GRCm39) |
missense |
probably benign |
0.02 |
R3911:Cntrl
|
UTSW |
2 |
35,010,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R3922:Cntrl
|
UTSW |
2 |
35,019,751 (GRCm39) |
missense |
probably damaging |
0.98 |
R4081:Cntrl
|
UTSW |
2 |
35,065,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R4081:Cntrl
|
UTSW |
2 |
35,051,938 (GRCm39) |
splice site |
probably benign |
|
R4516:Cntrl
|
UTSW |
2 |
35,017,993 (GRCm39) |
missense |
probably benign |
0.00 |
R4518:Cntrl
|
UTSW |
2 |
35,038,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R4519:Cntrl
|
UTSW |
2 |
35,063,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R4646:Cntrl
|
UTSW |
2 |
35,039,473 (GRCm39) |
missense |
probably damaging |
0.99 |
R4753:Cntrl
|
UTSW |
2 |
35,043,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4763:Cntrl
|
UTSW |
2 |
35,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R4916:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.42 |
R5168:Cntrl
|
UTSW |
2 |
35,047,667 (GRCm39) |
missense |
probably damaging |
1.00 |
R5291:Cntrl
|
UTSW |
2 |
35,024,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R5356:Cntrl
|
UTSW |
2 |
35,038,911 (GRCm39) |
nonsense |
probably null |
|
R5774:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.15 |
R5947:Cntrl
|
UTSW |
2 |
35,006,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R6144:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6147:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6214:Cntrl
|
UTSW |
2 |
35,019,646 (GRCm39) |
missense |
probably benign |
0.10 |
R6267:Cntrl
|
UTSW |
2 |
35,019,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Cntrl
|
UTSW |
2 |
35,018,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6445:Cntrl
|
UTSW |
2 |
35,052,860 (GRCm39) |
missense |
probably benign |
0.05 |
R6487:Cntrl
|
UTSW |
2 |
35,012,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6497:Cntrl
|
UTSW |
2 |
35,025,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6782:Cntrl
|
UTSW |
2 |
35,060,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6815:Cntrl
|
UTSW |
2 |
35,039,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6853:Cntrl
|
UTSW |
2 |
35,019,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6858:Cntrl
|
UTSW |
2 |
35,052,107 (GRCm39) |
critical splice donor site |
probably null |
|
R6965:Cntrl
|
UTSW |
2 |
35,052,845 (GRCm39) |
missense |
probably benign |
0.20 |
R6970:Cntrl
|
UTSW |
2 |
35,008,149 (GRCm39) |
missense |
probably benign |
|
R7085:Cntrl
|
UTSW |
2 |
35,055,804 (GRCm39) |
missense |
probably benign |
0.00 |
R7150:Cntrl
|
UTSW |
2 |
35,055,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7213:Cntrl
|
UTSW |
2 |
35,025,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7221:Cntrl
|
UTSW |
2 |
35,041,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7389:Cntrl
|
UTSW |
2 |
35,017,529 (GRCm39) |
missense |
probably benign |
0.01 |
R7414:Cntrl
|
UTSW |
2 |
35,055,479 (GRCm39) |
missense |
probably benign |
0.02 |
R7427:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
R7428:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
R7453:Cntrl
|
UTSW |
2 |
35,045,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7747:Cntrl
|
UTSW |
2 |
35,006,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R7753:Cntrl
|
UTSW |
2 |
35,001,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7811:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
R7882:Cntrl
|
UTSW |
2 |
35,060,592 (GRCm39) |
missense |
probably benign |
0.41 |
R7919:Cntrl
|
UTSW |
2 |
35,017,413 (GRCm39) |
missense |
probably benign |
|
R8314:Cntrl
|
UTSW |
2 |
35,065,155 (GRCm39) |
missense |
probably benign |
0.00 |
R8332:Cntrl
|
UTSW |
2 |
35,016,037 (GRCm39) |
missense |
probably damaging |
1.00 |
R8681:Cntrl
|
UTSW |
2 |
35,038,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Cntrl
|
UTSW |
2 |
35,023,974 (GRCm39) |
missense |
probably damaging |
0.98 |
R8717:Cntrl
|
UTSW |
2 |
35,003,351 (GRCm39) |
missense |
probably benign |
0.40 |
R8960:Cntrl
|
UTSW |
2 |
35,052,053 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9036:Cntrl
|
UTSW |
2 |
35,016,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9617:Cntrl
|
UTSW |
2 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.00 |
R9621:Cntrl
|
UTSW |
2 |
35,050,278 (GRCm39) |
missense |
probably damaging |
0.96 |
RF007:Cntrl
|
UTSW |
2 |
35,060,512 (GRCm39) |
missense |
probably benign |
|
RF016:Cntrl
|
UTSW |
2 |
35,009,998 (GRCm39) |
missense |
probably benign |
|
RF017:Cntrl
|
UTSW |
2 |
35,065,201 (GRCm39) |
missense |
probably damaging |
0.96 |
X0024:Cntrl
|
UTSW |
2 |
35,037,308 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Cntrl
|
UTSW |
2 |
35,039,528 (GRCm39) |
missense |
probably damaging |
1.00 |
X0027:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.08 |
X0027:Cntrl
|
UTSW |
2 |
35,047,780 (GRCm39) |
missense |
probably damaging |
1.00 |
X0028:Cntrl
|
UTSW |
2 |
35,037,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACCAAGTCTTACGTTTCCAGCAG -3'
(R):5'- CACCTAAGGACCAAAGCCTTATCTGAAG -3'
Sequencing Primer
(F):5'- tcagaaatccgcctgcc -3'
(R):5'- GCCTTATCTGAAGGCTGTGC -3'
|
Posted On |
2014-03-28 |