Incidental Mutation 'IGL01776:Gm7247'
ID |
153856 |
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 # |
IGL01776
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51601678-51765127 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51759356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 112
(S112G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162998]
|
AlphaFold |
Q6UY52 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162998
AA Change: S112G
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125409 Gene: ENSMUSG00000068399 AA Change: S112G
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
Col8a2 |
C |
A |
4: 126,203,598 (GRCm39) |
|
probably benign |
Het |
Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
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 |
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 |
2014-02-04 |