Incidental Mutation 'IGL02043:Tmem63a'
ID |
184828 |
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 # |
IGL02043
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 180800353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 714
(T714I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000161523]
|
AlphaFold |
Q91YT8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027800
AA Change: T714I
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000027800 Gene: ENSMUSG00000026519 AA Change: T714I
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 benign
Transcript: ENSMUST00000161523
AA Change: T714I
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000124021 Gene: ENSMUSG00000026519 AA Change: T714I
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1b2 |
T |
C |
11: 69,496,102 (GRCm39) |
T33A |
probably benign |
Het |
Brd2 |
A |
T |
17: 34,331,590 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,208,299 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
A |
T |
15: 16,856,318 (GRCm39) |
D786V |
probably damaging |
Het |
Cep128 |
A |
C |
12: 91,233,504 (GRCm39) |
|
probably benign |
Het |
Cep85 |
T |
C |
4: 133,883,038 (GRCm39) |
T284A |
probably benign |
Het |
Chrna1 |
C |
T |
2: 73,398,450 (GRCm39) |
E330K |
probably benign |
Het |
Clec2l |
T |
C |
6: 38,653,785 (GRCm39) |
Y104H |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,616,664 (GRCm39) |
K226N |
probably damaging |
Het |
Cmip |
T |
A |
8: 118,172,067 (GRCm39) |
D467E |
probably benign |
Het |
Cpne3 |
A |
T |
4: 19,543,340 (GRCm39) |
|
probably null |
Het |
Crisp4 |
A |
G |
1: 18,204,324 (GRCm39) |
V46A |
probably damaging |
Het |
Csnk2a1 |
T |
C |
2: 152,116,070 (GRCm39) |
Y261H |
probably damaging |
Het |
Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
Czib |
T |
G |
4: 107,752,065 (GRCm39) |
|
probably benign |
Het |
Depdc7 |
T |
C |
2: 104,560,626 (GRCm39) |
T123A |
probably benign |
Het |
Edem2 |
T |
C |
2: 155,547,661 (GRCm39) |
T384A |
probably damaging |
Het |
F8 |
C |
T |
X: 74,376,247 (GRCm39) |
M377I |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,021,367 (GRCm39) |
|
probably null |
Het |
Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
Gm4841 |
A |
C |
18: 60,404,037 (GRCm39) |
S19A |
probably benign |
Het |
Gm4862 |
T |
A |
3: 138,834,396 (GRCm39) |
|
noncoding transcript |
Het |
Hk3 |
T |
A |
13: 55,162,908 (GRCm39) |
Q44L |
probably damaging |
Het |
Irgm1 |
C |
A |
11: 48,757,642 (GRCm39) |
L56F |
probably damaging |
Het |
Ldlr |
A |
G |
9: 21,644,795 (GRCm39) |
T108A |
probably benign |
Het |
Lgr4 |
T |
A |
2: 109,841,635 (GRCm39) |
M516K |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,587,537 (GRCm39) |
N3906S |
probably null |
Het |
Lrrtm4 |
A |
G |
6: 79,998,845 (GRCm39) |
N86D |
possibly damaging |
Het |
Map3k2 |
A |
G |
18: 32,340,587 (GRCm39) |
D198G |
probably damaging |
Het |
Mapkapk3 |
C |
T |
9: 107,139,621 (GRCm39) |
|
probably null |
Het |
Mvp |
A |
T |
7: 126,592,790 (GRCm39) |
Y374N |
probably damaging |
Het |
Myo3a |
T |
C |
2: 22,404,776 (GRCm39) |
S711P |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,497,986 (GRCm39) |
K189E |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,563,304 (GRCm39) |
K620N |
probably benign |
Het |
Nlrp10 |
T |
C |
7: 108,524,709 (GRCm39) |
E257G |
probably damaging |
Het |
Nptn |
T |
G |
9: 58,548,012 (GRCm39) |
M139R |
possibly damaging |
Het |
Nrk |
T |
G |
X: 137,889,544 (GRCm39) |
M1105R |
possibly damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,046 (GRCm39) |
C189* |
probably null |
Het |
Or10d4 |
T |
G |
9: 39,580,374 (GRCm39) |
V7G |
probably damaging |
Het |
Or1q1 |
T |
A |
2: 36,887,477 (GRCm39) |
Y218* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,612,248 (GRCm39) |
T403A |
probably benign |
Het |
Pcyt1b |
A |
G |
X: 92,745,722 (GRCm39) |
E50G |
possibly damaging |
Het |
Pigg |
C |
T |
5: 108,492,190 (GRCm39) |
T892I |
probably damaging |
Het |
Ppig |
T |
G |
2: 69,566,327 (GRCm39) |
|
probably null |
Het |
Prr12 |
A |
G |
7: 44,699,429 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
G |
T |
8: 71,345,073 (GRCm39) |
A78E |
possibly damaging |
Het |
Slc7a2 |
T |
G |
8: 41,364,095 (GRCm39) |
M436R |
probably benign |
Het |
Sp7 |
T |
A |
15: 102,267,690 (GRCm39) |
M39L |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
Svep1 |
A |
G |
4: 58,068,556 (GRCm39) |
S3077P |
probably benign |
Het |
Tmem30a |
A |
T |
9: 79,681,371 (GRCm39) |
|
probably benign |
Het |
Trank1 |
T |
C |
9: 111,193,028 (GRCm39) |
L535P |
probably damaging |
Het |
Tuba8 |
A |
C |
6: 121,197,470 (GRCm39) |
N44T |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,926,039 (GRCm39) |
|
probably benign |
Het |
Zfp654 |
A |
T |
16: 64,605,391 (GRCm39) |
I396K |
probably benign |
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 |
IGL01116:Tmem63a
|
APN |
1 |
180,799,654 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
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 |
2014-05-07 |