Incidental Mutation 'IGL02605:Gm12695'
| ID |
300233 |
| 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: 0.073)
|
| Stock # |
IGL02605
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96611884-96673423 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96650988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 155
(D155V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107071]
|
| AlphaFold |
A2AGB2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107071
AA Change: D155V
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: D155V
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,547,602 (GRCm39) |
Y992F |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,342,976 (GRCm39) |
N324Y |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,394,965 (GRCm39) |
F305L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,588,388 (GRCm39) |
|
probably null |
Het |
| Api5 |
A |
G |
2: 94,260,064 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,860,399 (GRCm39) |
I1165T |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,214,623 (GRCm39) |
|
probably null |
Het |
| Capn3 |
T |
A |
2: 120,326,518 (GRCm39) |
I570N |
probably damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,418,990 (GRCm39) |
H232R |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,365,792 (GRCm39) |
L156P |
possibly damaging |
Het |
| Cpa3 |
C |
A |
3: 20,276,376 (GRCm39) |
V286F |
probably benign |
Het |
| Csrnp3 |
G |
A |
2: 65,853,153 (GRCm39) |
C527Y |
probably damaging |
Het |
| Dock5 |
A |
T |
14: 68,065,887 (GRCm39) |
V372E |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,789,372 (GRCm39) |
L696P |
probably damaging |
Het |
| Fam91a1 |
T |
C |
15: 58,303,045 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
G |
3: 40,736,055 (GRCm39) |
I559V |
probably benign |
Het |
| Kdm1a |
G |
T |
4: 136,278,348 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
A |
T |
5: 105,974,683 (GRCm39) |
|
noncoding transcript |
Het |
| Minpp1 |
A |
T |
19: 32,475,815 (GRCm39) |
Y316F |
possibly damaging |
Het |
| Neto2 |
T |
C |
8: 86,390,064 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,500,610 (GRCm39) |
D277E |
probably benign |
Het |
| Ola1 |
A |
G |
2: 72,972,644 (GRCm39) |
|
probably benign |
Het |
| Or4k48 |
A |
G |
2: 111,475,850 (GRCm39) |
V164A |
probably benign |
Het |
| Or51r1 |
T |
C |
7: 102,228,602 (GRCm39) |
I300T |
probably damaging |
Het |
| Or8c15 |
T |
A |
9: 38,120,532 (GRCm39) |
M61K |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,768,064 (GRCm39) |
V722A |
possibly damaging |
Het |
| Pfdn6 |
T |
C |
17: 34,158,077 (GRCm39) |
Y90C |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,621,126 (GRCm39) |
H844L |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,198,896 (GRCm39) |
V422M |
probably damaging |
Het |
| Psmc1 |
G |
T |
12: 100,085,386 (GRCm39) |
R249L |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,357,316 (GRCm39) |
P269L |
probably benign |
Het |
| Ralgapa1 |
G |
T |
12: 55,759,450 (GRCm39) |
H1480Q |
possibly damaging |
Het |
| Rars1 |
G |
A |
11: 35,715,353 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,640,600 (GRCm39) |
R260C |
possibly damaging |
Het |
| Smarcc1 |
C |
T |
9: 110,051,068 (GRCm39) |
H963Y |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,725,238 (GRCm39) |
E230G |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,922,741 (GRCm39) |
S903P |
probably benign |
Het |
| Tas2r122 |
T |
C |
6: 132,688,572 (GRCm39) |
Y107C |
probably damaging |
Het |
| Tpm3 |
C |
A |
3: 89,995,753 (GRCm39) |
N204K |
probably benign |
Het |
| Wdr36 |
T |
C |
18: 32,985,044 (GRCm39) |
I450T |
possibly 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 |
|
IGL01016:Gm12695
|
APN |
4 |
96,646,184 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
2015-04-16 |
Incidental Mutation