Incidental Mutation 'R6280:Kmt2e'
| ID |
507886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kmt2e
|
| Ensembl Gene |
ENSMUSG00000029004 |
| Gene Name |
lysine (K)-specific methyltransferase 2E |
| Synonyms |
9530077A04Rik, 1810033J14Rik, D230038D11Rik, Mll5 |
| MMRRC Submission |
044450-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23639439-23709233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23704514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1236
(S1236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110781
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088392]
[ENSMUST00000094962]
[ENSMUST00000115128]
[ENSMUST00000126586]
[ENSMUST00000146375]
[ENSMUST00000196260]
|
| AlphaFold |
Q3UG20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088392
|
| SMART Domains |
Protein: ENSMUSP00000085734
Gene: ENSMUSG00000062604
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
46 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
79 |
228 |
1.3e-22 |
PFAM |
|
Pfam:Pkinase_Tyr
|
79 |
228 |
1e-9 |
PFAM |
|
coiled coil region
|
263 |
314 |
N/A |
INTRINSIC |
|
coiled coil region
|
339 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
406 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
506 |
680 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094962
AA Change: S1236P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092569
Gene: ENSMUSG00000029004
AA Change: S1236P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
PHD
|
120 |
164 |
4.25e-8 |
SMART |
|
SET
|
328 |
453 |
2.13e-26 |
SMART |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1367 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1434 |
1496 |
6.13e-7 |
PROSPERO |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1705 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1731 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1783 |
1842 |
6.13e-7 |
PROSPERO |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115128
AA Change: S1236P
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110781
Gene: ENSMUSG00000029004
AA Change: S1236P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
109 |
N/A |
INTRINSIC |
|
PHD
|
120 |
164 |
4.25e-8 |
SMART |
|
SET
|
328 |
453 |
2.13e-26 |
SMART |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
854 |
867 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
945 |
N/A |
INTRINSIC |
|
low complexity region
|
951 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
1184 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1214 |
1237 |
N/A |
INTRINSIC |
|
low complexity region
|
1294 |
1312 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1367 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1434 |
1496 |
6.13e-7 |
PROSPERO |
|
low complexity region
|
1506 |
1518 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1641 |
N/A |
INTRINSIC |
|
low complexity region
|
1677 |
1705 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1731 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1783 |
1842 |
6.13e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126586
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146375
|
| SMART Domains |
Protein: ENSMUSP00000142547
Gene: ENSMUSG00000029004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
104 |
117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196260
|
| SMART Domains |
Protein: ENSMUSP00000143791
Gene: ENSMUSG00000029004
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197591
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal and postnatal lethality, reduced fertility and growth, and abnormal lymphopoiesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,311,619 (GRCm39) |
D1930N |
probably benign |
Het |
| Adam8 |
A |
G |
7: 139,564,720 (GRCm39) |
L667S |
probably damaging |
Het |
| Adcy4 |
A |
T |
14: 56,016,500 (GRCm39) |
I317N |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,872 (GRCm39) |
F102S |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,522,325 (GRCm39) |
W443R |
probably damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,229 (GRCm39) |
Y156* |
probably null |
Het |
| Bpifc |
C |
T |
10: 85,813,576 (GRCm39) |
V323I |
probably benign |
Het |
| Camp |
T |
G |
9: 109,676,577 (GRCm39) |
I149L |
probably benign |
Het |
| Cfap20dc |
T |
G |
14: 8,473,414 (GRCm38) |
|
probably null |
Het |
| Cibar2 |
A |
G |
8: 120,898,858 (GRCm39) |
I94T |
possibly damaging |
Het |
| Cnih1 |
A |
G |
14: 47,025,634 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,948,323 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,724 (GRCm39) |
D780V |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,084 (GRCm39) |
V442I |
probably benign |
Het |
| Fam83g |
G |
T |
11: 61,594,008 (GRCm39) |
S514I |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,864,969 (GRCm39) |
N93D |
probably benign |
Het |
| Fgf20 |
G |
T |
8: 40,734,153 (GRCm39) |
S76* |
probably null |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,100,401 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,798,195 (GRCm39) |
L800H |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,512,022 (GRCm39) |
S33T |
probably benign |
Het |
| Gria4 |
T |
C |
9: 4,456,072 (GRCm39) |
M743V |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,729,457 (GRCm39) |
N109D |
probably damaging |
Het |
| Hsd3b3 |
A |
G |
3: 98,660,621 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,387,591 (GRCm39) |
S370A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,028,103 (GRCm39) |
D1786E |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,597,534 (GRCm39) |
R27S |
possibly damaging |
Het |
| Il17rb |
G |
A |
14: 29,724,928 (GRCm39) |
A186V |
probably benign |
Het |
| Irak4 |
G |
T |
15: 94,449,691 (GRCm39) |
E57* |
probably null |
Het |
| Kcnh2 |
T |
A |
5: 24,536,921 (GRCm39) |
H221L |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,016,687 (GRCm39) |
N1149D |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,141,303 (GRCm39) |
H702R |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,773,910 (GRCm39) |
D248V |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,106 (GRCm39) |
N52S |
possibly damaging |
Het |
| Lhfpl6 |
T |
C |
3: 53,167,935 (GRCm39) |
Y170H |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,243 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,846,848 (GRCm39) |
I872T |
probably benign |
Het |
| Lrit3 |
T |
C |
3: 129,582,412 (GRCm39) |
E525G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,453 (GRCm39) |
T726A |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,813,283 (GRCm39) |
N46K |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,490,613 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
C |
8: 87,579,794 (GRCm39) |
N669K |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,257,739 (GRCm39) |
D26G |
probably benign |
Het |
| Neu4 |
G |
A |
1: 93,952,873 (GRCm39) |
S414N |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,212,935 (GRCm39) |
D336G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,954,509 (GRCm39) |
G3691V |
possibly damaging |
Het |
| Or4c52 |
A |
C |
2: 89,845,393 (GRCm39) |
I40L |
possibly damaging |
Het |
| Or5t17 |
A |
G |
2: 86,832,364 (GRCm39) |
N17S |
probably damaging |
Het |
| Pdgfd |
T |
A |
9: 6,288,627 (GRCm39) |
S94T |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,770 (GRCm39) |
H290R |
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,634 (GRCm39) |
L242Q |
probably damaging |
Het |
| Pou2f3 |
G |
T |
9: 43,050,635 (GRCm39) |
L242M |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,289,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,710,326 (GRCm39) |
S49G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,129 (GRCm39) |
L1626P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,555 (GRCm39) |
S534P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,702,939 (GRCm39) |
Y545C |
probably damaging |
Het |
| Rwdd4a |
A |
G |
8: 47,995,832 (GRCm39) |
T71A |
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,982,738 (GRCm39) |
F504L |
possibly damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,167,703 (GRCm39) |
T231A |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,377 (GRCm39) |
S468G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,310 (GRCm39) |
N697S |
probably benign |
Het |
| Spint1 |
T |
A |
2: 119,075,759 (GRCm39) |
V194E |
possibly damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,434,905 (GRCm39) |
M14K |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,608 (GRCm39) |
K2622E |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,338 (GRCm39) |
N614S |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,190 (GRCm39) |
C261S |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,727,373 (GRCm39) |
I44N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,502 (GRCm39) |
L17807P |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,873,492 (GRCm39) |
R121W |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,291 (GRCm39) |
H189L |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,212 (GRCm39) |
S761G |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,200,830 (GRCm39) |
K34* |
probably null |
Het |
| Zfp120 |
A |
T |
2: 149,959,964 (GRCm39) |
S141R |
possibly damaging |
Het |
| Zfp462 |
C |
G |
4: 55,010,253 (GRCm39) |
P740A |
probably benign |
Het |
|
| Other mutations in Kmt2e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Kmt2e
|
APN |
5 |
23,697,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01330:Kmt2e
|
APN |
5 |
23,702,946 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01457:Kmt2e
|
APN |
5 |
23,707,017 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01691:Kmt2e
|
APN |
5 |
23,702,089 (GRCm39) |
missense |
probably benign |
|
|
IGL02274:Kmt2e
|
APN |
5 |
23,705,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02934:Kmt2e
|
APN |
5 |
23,702,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02964:Kmt2e
|
APN |
5 |
23,672,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL03011:Kmt2e
|
APN |
5 |
23,702,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03291:Kmt2e
|
APN |
5 |
23,704,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0035:Kmt2e
|
UTSW |
5 |
23,690,619 (GRCm39) |
splice site |
probably benign |
|
|
R0446:Kmt2e
|
UTSW |
5 |
23,702,532 (GRCm39) |
splice site |
probably null |
|
|
R0498:Kmt2e
|
UTSW |
5 |
23,683,970 (GRCm39) |
nonsense |
probably null |
|
|
R0699:Kmt2e
|
UTSW |
5 |
23,678,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0701:Kmt2e
|
UTSW |
5 |
23,678,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0761:Kmt2e
|
UTSW |
5 |
23,708,032 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Kmt2e
|
UTSW |
5 |
23,707,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Kmt2e
|
UTSW |
5 |
23,707,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1432:Kmt2e
|
UTSW |
5 |
23,655,319 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1495:Kmt2e
|
UTSW |
5 |
23,704,325 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1505:Kmt2e
|
UTSW |
5 |
23,705,533 (GRCm39) |
missense |
probably null |
0.01 |
|
R1623:Kmt2e
|
UTSW |
5 |
23,687,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1675:Kmt2e
|
UTSW |
5 |
23,687,451 (GRCm39) |
nonsense |
probably null |
|
|
R1691:Kmt2e
|
UTSW |
5 |
23,669,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Kmt2e
|
UTSW |
5 |
23,697,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1820:Kmt2e
|
UTSW |
5 |
23,678,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Kmt2e
|
UTSW |
5 |
23,704,484 (GRCm39) |
intron |
probably benign |
|
|
R1912:Kmt2e
|
UTSW |
5 |
23,697,393 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2070:Kmt2e
|
UTSW |
5 |
23,706,993 (GRCm39) |
missense |
probably benign |
|
|
R2195:Kmt2e
|
UTSW |
5 |
23,707,194 (GRCm39) |
splice site |
probably null |
|
|
R2571:Kmt2e
|
UTSW |
5 |
23,706,885 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3901:Kmt2e
|
UTSW |
5 |
23,706,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3902:Kmt2e
|
UTSW |
5 |
23,706,640 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3905:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3906:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3909:Kmt2e
|
UTSW |
5 |
23,706,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3956:Kmt2e
|
UTSW |
5 |
23,701,023 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4242:Kmt2e
|
UTSW |
5 |
23,707,820 (GRCm39) |
unclassified |
probably benign |
|
|
R4299:Kmt2e
|
UTSW |
5 |
23,669,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Kmt2e
|
UTSW |
5 |
23,669,788 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4528:Kmt2e
|
UTSW |
5 |
23,678,556 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4574:Kmt2e
|
UTSW |
5 |
23,697,405 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4719:Kmt2e
|
UTSW |
5 |
23,697,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Kmt2e
|
UTSW |
5 |
23,687,439 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4787:Kmt2e
|
UTSW |
5 |
23,668,081 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4812:Kmt2e
|
UTSW |
5 |
23,707,585 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4853:Kmt2e
|
UTSW |
5 |
23,707,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Kmt2e
|
UTSW |
5 |
23,707,693 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5306:Kmt2e
|
UTSW |
5 |
23,704,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5659:Kmt2e
|
UTSW |
5 |
23,702,805 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5907:Kmt2e
|
UTSW |
5 |
23,669,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Kmt2e
|
UTSW |
5 |
23,704,440 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6353:Kmt2e
|
UTSW |
5 |
23,698,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6375:Kmt2e
|
UTSW |
5 |
23,704,517 (GRCm39) |
missense |
probably benign |
|
|
R6553:Kmt2e
|
UTSW |
5 |
23,668,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6572:Kmt2e
|
UTSW |
5 |
23,702,579 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6678:Kmt2e
|
UTSW |
5 |
23,704,293 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6791:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6792:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6794:Kmt2e
|
UTSW |
5 |
23,704,474 (GRCm39) |
intron |
probably benign |
|
|
R6797:Kmt2e
|
UTSW |
5 |
23,687,505 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6947:Kmt2e
|
UTSW |
5 |
23,702,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7023:Kmt2e
|
UTSW |
5 |
23,705,485 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7036:Kmt2e
|
UTSW |
5 |
23,683,741 (GRCm39) |
missense |
probably null |
1.00 |
|
R7173:Kmt2e
|
UTSW |
5 |
23,669,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7202:Kmt2e
|
UTSW |
5 |
23,697,292 (GRCm39) |
unclassified |
probably benign |
|
|
R7563:Kmt2e
|
UTSW |
5 |
23,705,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Kmt2e
|
UTSW |
5 |
23,683,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Kmt2e
|
UTSW |
5 |
23,706,763 (GRCm39) |
missense |
not run |
|
|
R7722:Kmt2e
|
UTSW |
5 |
23,702,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7758:Kmt2e
|
UTSW |
5 |
23,701,068 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7794:Kmt2e
|
UTSW |
5 |
23,669,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8137:Kmt2e
|
UTSW |
5 |
23,706,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Kmt2e
|
UTSW |
5 |
23,704,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8383:Kmt2e
|
UTSW |
5 |
23,690,539 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8400:Kmt2e
|
UTSW |
5 |
23,702,090 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8546:Kmt2e
|
UTSW |
5 |
23,686,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Kmt2e
|
UTSW |
5 |
23,698,215 (GRCm39) |
missense |
probably benign |
|
|
R8786:Kmt2e
|
UTSW |
5 |
23,669,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Kmt2e
|
UTSW |
5 |
23,669,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9660:Kmt2e
|
UTSW |
5 |
23,683,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9786:Kmt2e
|
UTSW |
5 |
23,702,982 (GRCm39) |
missense |
probably benign |
0.16 |
|
RF026:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF028:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF040:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
RF042:Kmt2e
|
UTSW |
5 |
23,683,507 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
Z1177:Kmt2e
|
UTSW |
5 |
23,686,206 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTAAGCCAGAGAACTTTGC -3'
(R):5'- TTACATAGTTCACAGCCACAGC -3'
Sequencing Primer
(F):5'- GCCAGAGAACTTTGCTTTGATTAG -3'
(R):5'- GTGATCACCTTCAACCACTGTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation