Incidental Mutation 'IGL02811:Tmem63a'
| ID |
360581 |
| 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: 0.081)
|
| Stock # |
IGL02811
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180793348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 507
(I507M)
|
| 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: I507M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: I507M
| 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 damaging
Transcript: ENSMUST00000161523
AA Change: I507M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: I507M
| 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: ENSMUST00000161942
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
| BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
| Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
| Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
| Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,196,069 (GRCm39) |
T426A |
probably benign |
Het |
| Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
| Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
| Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
| Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
| Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
| Lmx1a |
A |
G |
1: 167,618,943 (GRCm39) |
I101V |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,100,582 (GRCm39) |
V4A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
| Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
| Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
| Olfm4 |
T |
A |
14: 80,259,113 (GRCm39) |
S454T |
probably damaging |
Het |
| Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
| Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
| Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
| Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,411,851 (GRCm39) |
V380E |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,836,106 (GRCm39) |
D345G |
probably damaging |
Het |
| Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
| Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
| Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
| Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation