Incidental Mutation 'IGL00162:Gm7247'
ID |
306580 |
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 # |
IGL00162
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51601678-51765127 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 51760962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 177
(C177Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162998]
|
AlphaFold |
Q6UY52 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162998
AA Change: C177Y
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125409 Gene: ENSMUSG00000068399 AA Change: C177Y
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
Dlgap1 |
T |
C |
17: 70,823,080 (GRCm39) |
S22P |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,470,416 (GRCm39) |
E368G |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
Mok |
C |
T |
12: 110,774,631 (GRCm39) |
|
probably benign |
Het |
Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
Ptpn12 |
T |
C |
5: 21,234,848 (GRCm39) |
E45G |
probably damaging |
Het |
Ralgps1 |
A |
T |
2: 33,027,694 (GRCm39) |
*516R |
probably null |
Het |
Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
Siglech |
T |
C |
7: 55,422,339 (GRCm39) |
|
probably benign |
Het |
Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
Other mutations in Gm7247 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02270:Gm7247
|
APN |
14 |
51,759,341 (GRCm39) |
missense |
probably benign |
0.10 |
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 |