Incidental Mutation 'IGL01016:Gm12695'
ID |
53529 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gm12695
|
Ensembl Gene |
ENSMUSG00000078639 |
Gene Name |
predicted gene 12695 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
IGL01016
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
96611884-96673423 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96646184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 286
(Y286F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107071]
|
AlphaFold |
A2AGB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107071
AA Change: Y286F
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000102686 Gene: ENSMUSG00000078639 AA Change: Y286F
Domain | Start | End | E-Value | Type |
low complexity region
|
226 |
237 |
N/A |
INTRINSIC |
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdh20 |
G |
A |
1: 110,036,686 (GRCm39) |
|
probably null |
Het |
Dennd1c |
T |
C |
17: 57,373,839 (GRCm39) |
I575V |
probably damaging |
Het |
Focad |
G |
A |
4: 88,310,252 (GRCm39) |
V1394I |
possibly damaging |
Het |
Gldc |
G |
A |
19: 30,110,893 (GRCm39) |
S570F |
possibly damaging |
Het |
Grid1 |
C |
T |
14: 34,544,596 (GRCm39) |
Q56* |
probably null |
Het |
Il7r |
A |
T |
15: 9,510,294 (GRCm39) |
V253E |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,014,867 (GRCm39) |
L861P |
probably damaging |
Het |
Kcnc3 |
C |
T |
7: 44,244,810 (GRCm39) |
R367W |
probably damaging |
Het |
Lipt1 |
T |
C |
1: 37,914,264 (GRCm39) |
Y107H |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,789,975 (GRCm39) |
E445G |
probably benign |
Het |
Mpo |
A |
G |
11: 87,688,436 (GRCm39) |
|
probably null |
Het |
Nme5 |
T |
C |
18: 34,711,712 (GRCm39) |
|
probably null |
Het |
Or52n2 |
A |
T |
7: 104,542,243 (GRCm39) |
N197K |
probably damaging |
Het |
Or8b54 |
T |
A |
9: 38,686,737 (GRCm39) |
F62Y |
probably damaging |
Het |
Or8s8 |
T |
A |
15: 98,354,186 (GRCm39) |
|
probably benign |
Het |
Papolg |
A |
T |
11: 23,835,570 (GRCm39) |
N83K |
possibly damaging |
Het |
Picalm |
A |
T |
7: 89,810,526 (GRCm39) |
D111V |
probably damaging |
Het |
Ppargc1a |
T |
A |
5: 51,655,373 (GRCm39) |
|
probably null |
Het |
Rnh1 |
G |
T |
7: 140,744,409 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
T |
C |
14: 52,383,293 (GRCm39) |
Y576H |
probably damaging |
Het |
Sobp |
T |
A |
10: 42,898,874 (GRCm39) |
Y237F |
probably damaging |
Het |
Spink5 |
T |
C |
18: 44,140,711 (GRCm39) |
Y637H |
probably damaging |
Het |
St18 |
G |
T |
1: 6,914,547 (GRCm39) |
G797V |
probably damaging |
Het |
Tbx20 |
T |
C |
9: 24,661,617 (GRCm39) |
D293G |
probably damaging |
Het |
Tcl1b1 |
A |
T |
12: 105,130,663 (GRCm39) |
R49* |
probably null |
Het |
Tnfsf13b |
A |
G |
8: 10,081,612 (GRCm39) |
Q258R |
probably damaging |
Het |
Vmn1r223 |
A |
T |
13: 23,434,237 (GRCm39) |
Y277F |
probably damaging |
Het |
Wdr62 |
T |
C |
7: 29,953,676 (GRCm39) |
T146A |
probably benign |
Het |
Zfp236 |
G |
A |
18: 82,686,815 (GRCm39) |
A241V |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,711,003 (GRCm39) |
S909P |
probably damaging |
Het |
|
Other mutations in Gm12695 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00672:Gm12695
|
APN |
4 |
96,637,419 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02605:Gm12695
|
APN |
4 |
96,650,988 (GRCm39) |
missense |
probably null |
0.92 |
IGL02734:Gm12695
|
APN |
4 |
96,612,267 (GRCm39) |
nonsense |
probably null |
|
IGL02869:Gm12695
|
APN |
4 |
96,650,370 (GRCm39) |
splice site |
probably benign |
|
IGL02895:Gm12695
|
APN |
4 |
96,612,186 (GRCm39) |
missense |
probably damaging |
0.99 |
R0020:Gm12695
|
UTSW |
4 |
96,657,972 (GRCm39) |
missense |
probably damaging |
0.96 |
R0465:Gm12695
|
UTSW |
4 |
96,673,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R0941:Gm12695
|
UTSW |
4 |
96,616,454 (GRCm39) |
nonsense |
probably null |
|
R0968:Gm12695
|
UTSW |
4 |
96,650,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Gm12695
|
UTSW |
4 |
96,651,082 (GRCm39) |
missense |
probably benign |
0.16 |
R1983:Gm12695
|
UTSW |
4 |
96,627,214 (GRCm39) |
missense |
possibly damaging |
0.84 |
R2051:Gm12695
|
UTSW |
4 |
96,658,008 (GRCm39) |
missense |
probably damaging |
0.99 |
R2063:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
R2064:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
R2065:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
R2066:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
R2067:Gm12695
|
UTSW |
4 |
96,657,963 (GRCm39) |
missense |
probably benign |
0.14 |
R2073:Gm12695
|
UTSW |
4 |
96,612,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2075:Gm12695
|
UTSW |
4 |
96,612,182 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2233:Gm12695
|
UTSW |
4 |
96,612,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R2234:Gm12695
|
UTSW |
4 |
96,612,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R2327:Gm12695
|
UTSW |
4 |
96,657,893 (GRCm39) |
missense |
probably benign |
0.00 |
R2507:Gm12695
|
UTSW |
4 |
96,642,426 (GRCm39) |
missense |
probably damaging |
0.99 |
R3836:Gm12695
|
UTSW |
4 |
96,650,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R4685:Gm12695
|
UTSW |
4 |
96,650,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R5491:Gm12695
|
UTSW |
4 |
96,657,905 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5792:Gm12695
|
UTSW |
4 |
96,616,520 (GRCm39) |
missense |
probably benign |
0.00 |
R6767:Gm12695
|
UTSW |
4 |
96,650,933 (GRCm39) |
splice site |
probably null |
|
R6786:Gm12695
|
UTSW |
4 |
96,651,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R6874:Gm12695
|
UTSW |
4 |
96,673,306 (GRCm39) |
missense |
probably benign |
0.04 |
R6923:Gm12695
|
UTSW |
4 |
96,658,053 (GRCm39) |
missense |
probably benign |
0.00 |
R6978:Gm12695
|
UTSW |
4 |
96,657,959 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7810:Gm12695
|
UTSW |
4 |
96,619,608 (GRCm39) |
missense |
probably damaging |
0.99 |
R8263:Gm12695
|
UTSW |
4 |
96,651,046 (GRCm39) |
missense |
probably benign |
0.00 |
R8272:Gm12695
|
UTSW |
4 |
96,612,183 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8285:Gm12695
|
UTSW |
4 |
96,657,990 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8924:Gm12695
|
UTSW |
4 |
96,651,046 (GRCm39) |
missense |
probably benign |
0.00 |
R9115:Gm12695
|
UTSW |
4 |
96,657,846 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9444:Gm12695
|
UTSW |
4 |
96,612,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R9462:Gm12695
|
UTSW |
4 |
96,651,075 (GRCm39) |
missense |
probably benign |
0.26 |
R9725:Gm12695
|
UTSW |
4 |
96,616,466 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gm12695
|
UTSW |
4 |
96,637,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-28 |