Incidental Mutation 'IGL01116:Tmem63a'
ID |
50298 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem63a
|
Ensembl Gene |
ENSMUSG00000026519 |
Gene Name |
transmembrane protein 63a |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
IGL01116
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 180799654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 675
(I675V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000161523]
|
AlphaFold |
Q91YT8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027800
AA Change: I675V
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027800 Gene: ENSMUSG00000026519 AA Change: I675V
Domain | Start | End | E-Value | Type |
Pfam:RSN1_TM
|
50 |
213 |
3.3e-24 |
PFAM |
Pfam:PHM7_cyt
|
261 |
327 |
8.2e-12 |
PFAM |
Pfam:RSN1_7TM
|
349 |
692 |
1.5e-87 |
PFAM |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154133
|
SMART Domains |
Protein: ENSMUSP00000114363 Gene: ENSMUSG00000038776
Domain | Start | End | E-Value | Type |
Pfam:EHN
|
1 |
37 |
1.2e-8 |
PFAM |
Pfam:Abhydrolase_1
|
19 |
247 |
2.3e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161523
AA Change: I675V
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124021 Gene: ENSMUSG00000026519 AA Change: I675V
Domain | Start | End | E-Value | Type |
Pfam:RSN1_TM
|
50 |
213 |
3.6e-25 |
PFAM |
Pfam:DUF4463
|
261 |
326 |
9.4e-15 |
PFAM |
Pfam:DUF221
|
349 |
692 |
1.4e-87 |
PFAM |
transmembrane domain
|
697 |
719 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191980
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
A |
12: 118,849,911 (GRCm39) |
M951L |
probably benign |
Het |
Als2 |
T |
C |
1: 59,225,163 (GRCm39) |
|
probably benign |
Het |
Arhgap26 |
T |
C |
18: 39,244,856 (GRCm39) |
V167A |
probably damaging |
Het |
Bbs1 |
A |
G |
19: 4,952,867 (GRCm39) |
|
probably benign |
Het |
Capn11 |
A |
T |
17: 45,949,806 (GRCm39) |
|
probably benign |
Het |
Cenpl |
G |
T |
1: 160,910,857 (GRCm39) |
S268I |
possibly damaging |
Het |
Coq8b |
T |
C |
7: 26,939,282 (GRCm39) |
V144A |
possibly damaging |
Het |
Exo1 |
T |
A |
1: 175,728,963 (GRCm39) |
C10S |
possibly damaging |
Het |
Fam193b |
A |
T |
13: 55,691,266 (GRCm39) |
S203T |
probably damaging |
Het |
Ggact |
T |
C |
14: 123,129,167 (GRCm39) |
N16S |
probably damaging |
Het |
Gm3940 |
A |
T |
1: 52,129,882 (GRCm39) |
|
probably benign |
Het |
Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
Golm1 |
T |
C |
13: 59,797,470 (GRCm39) |
K125R |
probably damaging |
Het |
Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
Gria1 |
A |
G |
11: 57,127,801 (GRCm39) |
N337D |
probably damaging |
Het |
Gripap1 |
G |
A |
X: 7,678,705 (GRCm39) |
G464D |
probably benign |
Het |
Grk1 |
A |
G |
8: 13,455,404 (GRCm39) |
D96G |
possibly damaging |
Het |
Hsf1 |
T |
C |
15: 76,382,403 (GRCm39) |
V258A |
probably benign |
Het |
Ighv7-4 |
A |
G |
12: 114,186,653 (GRCm39) |
S40P |
probably damaging |
Het |
Igkv4-50 |
G |
A |
6: 69,677,921 (GRCm39) |
S61L |
probably benign |
Het |
Igkv4-62 |
C |
T |
6: 69,377,035 (GRCm39) |
G38E |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,757,437 (GRCm39) |
D358G |
probably damaging |
Het |
Madd |
A |
G |
2: 90,984,888 (GRCm39) |
|
probably benign |
Het |
Map3k6 |
A |
G |
4: 132,974,439 (GRCm39) |
S580G |
probably damaging |
Het |
Myef2 |
A |
G |
2: 124,940,402 (GRCm39) |
M383T |
probably damaging |
Het |
Myo3b |
T |
C |
2: 70,119,730 (GRCm39) |
L930P |
probably damaging |
Het |
Ndufaf3 |
C |
T |
9: 108,444,068 (GRCm39) |
R20Q |
probably benign |
Het |
Npr2 |
T |
C |
4: 43,640,248 (GRCm39) |
S328P |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,144 (GRCm39) |
C97S |
probably damaging |
Het |
Or4k15b |
T |
A |
14: 50,272,507 (GRCm39) |
M118L |
probably benign |
Het |
Pdpr |
T |
C |
8: 111,839,342 (GRCm39) |
I155T |
possibly damaging |
Het |
Phf11b |
A |
T |
14: 59,560,631 (GRCm39) |
I216K |
probably benign |
Het |
Phkg1 |
T |
C |
5: 129,893,813 (GRCm39) |
|
probably null |
Het |
Pik3r6 |
A |
G |
11: 68,422,276 (GRCm39) |
Y225C |
probably benign |
Het |
Plekhh2 |
A |
T |
17: 84,914,356 (GRCm39) |
D1253V |
possibly damaging |
Het |
Plppr3 |
T |
C |
10: 79,702,757 (GRCm39) |
T155A |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,166,192 (GRCm39) |
F732S |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,799,627 (GRCm39) |
|
probably benign |
Het |
Slc16a8 |
T |
G |
15: 79,135,432 (GRCm39) |
S459R |
probably damaging |
Het |
Slc25a12 |
A |
T |
2: 71,123,696 (GRCm39) |
|
probably benign |
Het |
Slc38a2 |
T |
C |
15: 96,591,066 (GRCm39) |
|
probably benign |
Het |
Slit1 |
C |
A |
19: 41,594,824 (GRCm39) |
W1182L |
possibly damaging |
Het |
Snx2 |
C |
T |
18: 53,327,495 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
T |
17: 80,752,929 (GRCm39) |
V335D |
probably damaging |
Het |
St18 |
A |
G |
1: 6,872,856 (GRCm39) |
D197G |
probably damaging |
Het |
Ston2 |
G |
T |
12: 91,615,522 (GRCm39) |
N295K |
possibly damaging |
Het |
Stpg3 |
A |
G |
2: 25,103,191 (GRCm39) |
|
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,488,294 (GRCm39) |
L389Q |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,699,320 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,934 (GRCm39) |
D3012E |
probably damaging |
Het |
|
Other mutations in Tmem63a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00091:Tmem63a
|
APN |
1 |
180,790,653 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00331:Tmem63a
|
APN |
1 |
180,794,062 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL01368:Tmem63a
|
APN |
1 |
180,797,797 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL01445:Tmem63a
|
APN |
1 |
180,774,196 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01867:Tmem63a
|
APN |
1 |
180,783,570 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02043:Tmem63a
|
APN |
1 |
180,800,353 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02453:Tmem63a
|
APN |
1 |
180,790,634 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02527:Tmem63a
|
APN |
1 |
180,780,539 (GRCm39) |
splice site |
probably null |
|
IGL02811:Tmem63a
|
APN |
1 |
180,793,348 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02975:Tmem63a
|
APN |
1 |
180,788,640 (GRCm39) |
missense |
probably benign |
|
IGL03304:Tmem63a
|
APN |
1 |
180,796,418 (GRCm39) |
nonsense |
probably null |
|
R0029:Tmem63a
|
UTSW |
1 |
180,790,031 (GRCm39) |
missense |
probably benign |
0.01 |
R0029:Tmem63a
|
UTSW |
1 |
180,790,031 (GRCm39) |
missense |
probably benign |
0.01 |
R0173:Tmem63a
|
UTSW |
1 |
180,782,363 (GRCm39) |
splice site |
probably benign |
|
R0358:Tmem63a
|
UTSW |
1 |
180,783,988 (GRCm39) |
missense |
probably benign |
0.17 |
R0436:Tmem63a
|
UTSW |
1 |
180,800,298 (GRCm39) |
missense |
probably benign |
0.03 |
R0506:Tmem63a
|
UTSW |
1 |
180,785,614 (GRCm39) |
critical splice donor site |
probably null |
|
R0513:Tmem63a
|
UTSW |
1 |
180,788,026 (GRCm39) |
missense |
probably benign |
0.00 |
R0529:Tmem63a
|
UTSW |
1 |
180,788,659 (GRCm39) |
missense |
probably benign |
0.09 |
R0855:Tmem63a
|
UTSW |
1 |
180,788,625 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1633:Tmem63a
|
UTSW |
1 |
180,776,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R2129:Tmem63a
|
UTSW |
1 |
180,793,105 (GRCm39) |
missense |
probably benign |
0.00 |
R2212:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2214:Tmem63a
|
UTSW |
1 |
180,788,679 (GRCm39) |
missense |
probably benign |
0.00 |
R2413:Tmem63a
|
UTSW |
1 |
180,788,640 (GRCm39) |
missense |
probably benign |
|
R2437:Tmem63a
|
UTSW |
1 |
180,790,054 (GRCm39) |
splice site |
probably null |
|
R3703:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3704:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3705:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3714:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3746:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3747:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3961:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3963:Tmem63a
|
UTSW |
1 |
180,790,679 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4675:Tmem63a
|
UTSW |
1 |
180,784,056 (GRCm39) |
missense |
probably benign |
0.00 |
R4795:Tmem63a
|
UTSW |
1 |
180,782,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R4876:Tmem63a
|
UTSW |
1 |
180,800,751 (GRCm39) |
missense |
probably benign |
|
R4916:Tmem63a
|
UTSW |
1 |
180,794,086 (GRCm39) |
missense |
probably benign |
0.36 |
R4917:Tmem63a
|
UTSW |
1 |
180,794,086 (GRCm39) |
missense |
probably benign |
0.36 |
R4918:Tmem63a
|
UTSW |
1 |
180,794,086 (GRCm39) |
missense |
probably benign |
0.36 |
R5620:Tmem63a
|
UTSW |
1 |
180,797,811 (GRCm39) |
missense |
probably benign |
0.00 |
R5843:Tmem63a
|
UTSW |
1 |
180,800,398 (GRCm39) |
critical splice donor site |
probably null |
|
R5937:Tmem63a
|
UTSW |
1 |
180,788,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R6823:Tmem63a
|
UTSW |
1 |
180,788,035 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6990:Tmem63a
|
UTSW |
1 |
180,788,686 (GRCm39) |
missense |
probably benign |
0.02 |
R7075:Tmem63a
|
UTSW |
1 |
180,788,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R7129:Tmem63a
|
UTSW |
1 |
180,782,441 (GRCm39) |
missense |
probably damaging |
0.98 |
R7447:Tmem63a
|
UTSW |
1 |
180,785,588 (GRCm39) |
missense |
probably benign |
0.04 |
R7609:Tmem63a
|
UTSW |
1 |
180,780,539 (GRCm39) |
splice site |
probably null |
|
R8116:Tmem63a
|
UTSW |
1 |
180,788,048 (GRCm39) |
missense |
probably benign |
0.04 |
R8141:Tmem63a
|
UTSW |
1 |
180,801,776 (GRCm39) |
missense |
probably benign |
0.06 |
R8296:Tmem63a
|
UTSW |
1 |
180,788,685 (GRCm39) |
missense |
probably benign |
0.36 |
R8770:Tmem63a
|
UTSW |
1 |
180,789,961 (GRCm39) |
missense |
probably benign |
0.03 |
R9642:Tmem63a
|
UTSW |
1 |
180,776,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-06-21 |