Incidental Mutation 'IGL02286:Gm12790'
ID |
289983 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm12790
|
Ensembl Gene |
ENSMUSG00000078626 |
Gene Name |
predicted gene 12790 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL02286
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
101823444-101832302 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101824918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 117
(T117A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106916]
|
AlphaFold |
B1AUV6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000106916
AA Change: T117A
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102529 Gene: ENSMUSG00000078626 AA Change: T117A
Domain | Start | End | E-Value | Type |
low complexity region
|
131 |
136 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dab1 |
A |
G |
4: 104,537,267 (GRCm39) |
T187A |
probably damaging |
Het |
Eno2 |
C |
T |
6: 124,743,543 (GRCm39) |
R132H |
probably damaging |
Het |
Fgb |
T |
G |
3: 82,950,633 (GRCm39) |
M374L |
probably benign |
Het |
Fgf21 |
T |
C |
7: 45,264,561 (GRCm39) |
D57G |
possibly damaging |
Het |
Gcgr |
A |
G |
11: 120,428,757 (GRCm39) |
T354A |
probably damaging |
Het |
Myo18a |
C |
T |
11: 77,668,811 (GRCm39) |
Q224* |
probably null |
Het |
N4bp2 |
A |
G |
5: 65,960,895 (GRCm39) |
Y522C |
probably damaging |
Het |
Nt5dc3 |
G |
A |
10: 86,656,644 (GRCm39) |
|
probably benign |
Het |
Or12e13 |
G |
A |
2: 87,663,592 (GRCm39) |
A70T |
probably damaging |
Het |
Ppp1r3b |
C |
T |
8: 35,851,515 (GRCm39) |
A118V |
probably benign |
Het |
Slc37a2 |
C |
T |
9: 37,146,455 (GRCm39) |
A351T |
probably damaging |
Het |
Tlr11 |
T |
C |
14: 50,598,328 (GRCm39) |
F105L |
possibly damaging |
Het |
Vwa8 |
G |
A |
14: 79,184,713 (GRCm39) |
|
probably null |
Het |
Xrra1 |
A |
T |
7: 99,563,434 (GRCm39) |
I474F |
possibly damaging |
Het |
Zfp790 |
A |
G |
7: 29,529,160 (GRCm39) |
K615R |
possibly damaging |
Het |
|
Other mutations in Gm12790 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0184:Gm12790
|
UTSW |
4 |
101,824,811 (GRCm39) |
nonsense |
probably null |
|
R0217:Gm12790
|
UTSW |
4 |
101,825,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Gm12790
|
UTSW |
4 |
101,825,396 (GRCm39) |
missense |
probably benign |
0.01 |
R1708:Gm12790
|
UTSW |
4 |
101,825,174 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2116:Gm12790
|
UTSW |
4 |
101,824,848 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4441:Gm12790
|
UTSW |
4 |
101,825,337 (GRCm39) |
missense |
probably damaging |
0.98 |
R4575:Gm12790
|
UTSW |
4 |
101,825,324 (GRCm39) |
missense |
probably benign |
0.17 |
R4578:Gm12790
|
UTSW |
4 |
101,825,324 (GRCm39) |
missense |
probably benign |
0.17 |
R5148:Gm12790
|
UTSW |
4 |
101,825,268 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5519:Gm12790
|
UTSW |
4 |
101,824,888 (GRCm39) |
missense |
probably benign |
0.03 |
R6282:Gm12790
|
UTSW |
4 |
101,824,713 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8230:Gm12790
|
UTSW |
4 |
101,825,280 (GRCm39) |
missense |
probably benign |
0.19 |
R9274:Gm12790
|
UTSW |
4 |
101,824,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2015-04-16 |