Incidental Mutation 'IGL02270:Gm7247'
| ID |
287088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm7247
|
| Ensembl Gene |
ENSMUSG00000068399 |
| Gene Name |
predicted gene 7247 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
IGL02270
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51601678-51765127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51759341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 107
(M107L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162998]
|
| AlphaFold |
Q6UY52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162998
AA Change: M107L
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
AA Change: M107L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Takusan
|
35 |
115 |
2.2e-25 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,707,314 (GRCm39) |
|
probably null |
Het |
| Bmi1 |
T |
A |
2: 18,689,269 (GRCm39) |
S318T |
probably benign |
Het |
| Cntnap5c |
G |
A |
17: 58,341,848 (GRCm39) |
V180I |
probably benign |
Het |
| Cyp2b10 |
A |
G |
7: 25,613,362 (GRCm39) |
E186G |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,465,708 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,315,790 (GRCm39) |
F901L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,052 (GRCm39) |
N3003I |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,476,402 (GRCm39) |
D124G |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,995,139 (GRCm39) |
I1144N |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,556,961 (GRCm39) |
V489I |
possibly damaging |
Het |
| Garem1 |
A |
G |
18: 21,281,507 (GRCm39) |
V283A |
probably damaging |
Het |
| Gfra2 |
G |
A |
14: 71,163,347 (GRCm39) |
R210H |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,901,371 (GRCm39) |
|
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,229,479 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,300,361 (GRCm39) |
D1558N |
probably damaging |
Het |
| Mylk4 |
A |
G |
13: 32,913,049 (GRCm39) |
|
probably benign |
Het |
| Or14j9 |
G |
T |
17: 37,874,471 (GRCm39) |
H244N |
possibly damaging |
Het |
| Or1e16 |
A |
G |
11: 73,286,191 (GRCm39) |
V219A |
probably benign |
Het |
| Or52n5 |
A |
G |
7: 104,588,576 (GRCm39) |
N281S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,630 (GRCm39) |
C146S |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,368 (GRCm39) |
R480G |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,835,416 (GRCm39) |
E185G |
probably damaging |
Het |
| S1pr3 |
T |
C |
13: 51,573,092 (GRCm39) |
I91T |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,728,398 (GRCm39) |
T104A |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,215,357 (GRCm39) |
D419G |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,684,398 (GRCm39) |
I19V |
probably benign |
Het |
| Sycp1 |
C |
A |
3: 102,803,259 (GRCm39) |
C517F |
probably benign |
Het |
| Trav15-1-dv6-1 |
G |
A |
14: 53,797,455 (GRCm39) |
E35K |
possibly damaging |
Het |
| Vmn1r121 |
T |
C |
7: 20,832,401 (GRCm39) |
E13G |
probably damaging |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,176 (GRCm39) |
S114T |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,686,950 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Gm7247 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Gm7247
|
APN |
14 |
51,760,962 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01776:Gm7247
|
APN |
14 |
51,759,356 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01836:Gm7247
|
APN |
14 |
51,602,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02961:Gm7247
|
APN |
14 |
51,602,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Gm7247
|
APN |
14 |
51,760,914 (GRCm39) |
missense |
probably benign |
|
|
R0054:Gm7247
|
UTSW |
14 |
51,807,057 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0413:Gm7247
|
UTSW |
14 |
51,760,929 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1143:Gm7247
|
UTSW |
14 |
51,760,875 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2018:Gm7247
|
UTSW |
14 |
51,602,804 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2019:Gm7247
|
UTSW |
14 |
51,602,804 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2117:Gm7247
|
UTSW |
14 |
51,602,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3971:Gm7247
|
UTSW |
14 |
51,602,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Gm7247
|
UTSW |
14 |
51,807,051 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5109:Gm7247
|
UTSW |
14 |
51,602,774 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5773:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5775:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5776:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5994:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5995:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5996:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6008:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6009:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6010:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6011:Gm7247
|
UTSW |
14 |
51,601,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6193:Gm7247
|
UTSW |
14 |
51,759,299 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6986:Gm7247
|
UTSW |
14 |
51,602,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7226:Gm7247
|
UTSW |
14 |
51,602,808 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7331:Gm7247
|
UTSW |
14 |
51,601,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8878:Gm7247
|
UTSW |
14 |
51,666,210 (GRCm39) |
intron |
probably benign |
|
|
RF021:Gm7247
|
UTSW |
14 |
51,601,781 (GRCm39) |
small deletion |
probably benign |
|
|
RF046:Gm7247
|
UTSW |
14 |
51,601,781 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation