Incidental Mutation 'IGL03304:Tmem63a'
| ID |
416342 |
| 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 # |
IGL03304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 180796418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 580
(Y580*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000161523]
|
| AlphaFold |
Q91YT8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027800
AA Change: Y580*
|
| SMART Domains |
Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: Y580*
| 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 null
Transcript: ENSMUST00000161523
AA Change: Y580*
|
| SMART Domains |
Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: Y580*
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
A |
T |
9: 106,312,665 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,438 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,469,033 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoah |
A |
G |
13: 21,099,180 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,961,092 (GRCm39) |
Y40N |
probably damaging |
Het |
| Brd8 |
A |
G |
18: 34,747,633 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
A |
C |
19: 29,361,502 (GRCm39) |
E270A |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,984,274 (GRCm39) |
V23E |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,822,739 (GRCm39) |
L151P |
probably damaging |
Het |
| D3Ertd751e |
G |
A |
3: 41,701,164 (GRCm39) |
|
probably null |
Het |
| Diaph1 |
A |
T |
18: 37,987,626 (GRCm39) |
D1043E |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,841,667 (GRCm39) |
Y534C |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,505,982 (GRCm39) |
N3848I |
probably damaging |
Het |
| Ifi211 |
A |
T |
1: 173,735,273 (GRCm39) |
M52K |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,620,006 (GRCm39) |
I747T |
probably damaging |
Het |
| Kifbp |
A |
C |
10: 62,395,082 (GRCm39) |
L520R |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,695 (GRCm39) |
M276V |
possibly damaging |
Het |
| Mmp1b |
A |
T |
9: 7,384,701 (GRCm39) |
D282E |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,785,137 (GRCm39) |
V265D |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,570,257 (GRCm39) |
L439* |
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,052,768 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
A |
T |
5: 124,250,886 (GRCm39) |
D24V |
probably damaging |
Het |
| Or1ak2 |
T |
C |
2: 36,827,560 (GRCm39) |
L143P |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,080,105 (GRCm39) |
S182P |
probably damaging |
Het |
| Or9s23 |
T |
C |
1: 92,501,025 (GRCm39) |
V44A |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 82,028,803 (GRCm39) |
W1661R |
probably damaging |
Het |
| Pdzph1 |
G |
A |
17: 59,187,641 (GRCm39) |
T1193I |
probably damaging |
Het |
| Pias3 |
A |
G |
3: 96,607,347 (GRCm39) |
T152A |
possibly damaging |
Het |
| Pla2g5 |
A |
T |
4: 138,531,880 (GRCm39) |
Y41* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,141,986 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
A |
C |
14: 67,253,977 (GRCm39) |
V397G |
probably benign |
Het |
| Ripor3 |
A |
G |
2: 167,822,848 (GRCm39) |
|
probably benign |
Het |
| Slc35a3 |
A |
G |
3: 116,480,960 (GRCm39) |
L101P |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,876,505 (GRCm39) |
R295Q |
probably damaging |
Het |
| Syce1 |
A |
T |
7: 140,357,623 (GRCm39) |
V314D |
possibly damaging |
Het |
| Tex52 |
T |
C |
6: 128,356,495 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Ube2m |
T |
A |
7: 12,769,685 (GRCm39) |
|
probably benign |
Het |
| Vmn1r50 |
G |
T |
6: 90,084,625 (GRCm39) |
K123N |
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 |
|
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 |
|
|
IGL02811:Tmem63a
|
APN |
1 |
180,793,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02975:Tmem63a
|
APN |
1 |
180,788,640 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation