Incidental Mutation 'IGL02527:Tmem63a'
| ID |
297167 |
| 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 # |
IGL02527
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 180780539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000159436]
[ENSMUST00000160536]
[ENSMUST00000161523]
[ENSMUST00000161847]
[ENSMUST00000162283]
|
| AlphaFold |
Q91YT8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027800
|
| SMART Domains |
Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
| 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 |
noncoding transcript
Transcript: ENSMUST00000128545
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159436
|
| SMART Domains |
Protein: ENSMUSP00000125192
Gene: ENSMUSG00000026519
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
50 |
173 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160536
|
| SMART Domains |
Protein: ENSMUSP00000124860
Gene: ENSMUSG00000026519
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
47 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161523
|
| SMART Domains |
Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
| 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 |
probably benign
Transcript: ENSMUST00000161847
|
| SMART Domains |
Protein: ENSMUSP00000124937
Gene: ENSMUSG00000026519
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162283
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,638,392 (GRCm39) |
V868A |
probably damaging |
Het |
| Adam25 |
T |
A |
8: 41,206,785 (GRCm39) |
I17K |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,650 (GRCm39) |
M123K |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,621,275 (GRCm39) |
M332V |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,042,712 (GRCm39) |
M1126K |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,334,966 (GRCm39) |
T818A |
probably damaging |
Het |
| Cda |
G |
A |
4: 138,070,832 (GRCm39) |
Q104* |
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,680,783 (GRCm39) |
N245S |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,009,635 (GRCm39) |
D234G |
probably damaging |
Het |
| Cpq |
A |
G |
15: 33,302,509 (GRCm39) |
Y220C |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,047,795 (GRCm39) |
K1026R |
possibly damaging |
Het |
| Dpep1 |
T |
C |
8: 123,925,487 (GRCm39) |
F47L |
probably damaging |
Het |
| Dppa4 |
G |
T |
16: 48,109,456 (GRCm39) |
R66L |
possibly damaging |
Het |
| Elac1 |
C |
A |
18: 73,880,304 (GRCm39) |
E31* |
probably null |
Het |
| Fggy |
A |
G |
4: 95,585,306 (GRCm39) |
K62E |
probably damaging |
Het |
| Ficd |
T |
A |
5: 113,875,027 (GRCm39) |
M32K |
probably benign |
Het |
| Foxd4 |
A |
G |
19: 24,877,178 (GRCm39) |
S341P |
probably benign |
Het |
| Gnb4 |
G |
T |
3: 32,644,015 (GRCm39) |
T181K |
probably benign |
Het |
| Grin2b |
T |
A |
6: 135,900,389 (GRCm39) |
Y164F |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,598,932 (GRCm39) |
L564P |
probably damaging |
Het |
| Hsd17b4 |
G |
A |
18: 50,293,231 (GRCm39) |
V257I |
probably benign |
Het |
| Itga10 |
C |
A |
3: 96,562,940 (GRCm39) |
|
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,707 (GRCm39) |
V284A |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,705,322 (GRCm39) |
S259T |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,739,628 (GRCm39) |
|
probably benign |
Het |
| Manea |
A |
G |
4: 26,336,619 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
T |
C |
1: 9,760,373 (GRCm39) |
H75R |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,153,959 (GRCm39) |
T2384M |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,039,225 (GRCm39) |
I6938T |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,101,697 (GRCm39) |
D412G |
probably benign |
Het |
| Olah |
T |
C |
2: 3,343,979 (GRCm39) |
E211G |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,249,181 (GRCm39) |
L261S |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,834,161 (GRCm39) |
N208K |
possibly damaging |
Het |
| Prrc1 |
T |
A |
18: 57,522,419 (GRCm39) |
M417K |
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,522,424 (GRCm39) |
T543M |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,804,469 (GRCm39) |
V447A |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,035,968 (GRCm39) |
E287G |
probably benign |
Het |
| Rusf1 |
T |
A |
7: 127,875,403 (GRCm39) |
T317S |
possibly damaging |
Het |
| Tec |
A |
G |
5: 72,936,758 (GRCm39) |
|
probably null |
Het |
| Tex26 |
A |
G |
5: 149,380,407 (GRCm39) |
D61G |
probably damaging |
Het |
| Tgfb1i1 |
G |
A |
7: 127,851,734 (GRCm39) |
|
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,436,675 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Umod |
C |
T |
7: 119,068,690 (GRCm39) |
G452D |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,838,776 (GRCm39) |
T2256I |
possibly damaging |
Het |
| Vmn1r31 |
A |
T |
6: 58,449,778 (GRCm39) |
I29K |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,199 (GRCm39) |
Y403H |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,286,764 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,724 (GRCm39) |
K320M |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation