Incidental Mutation 'IGL01867:Tmem63a'
ID |
178560 |
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 # |
IGL01867
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 180783570 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 175
(Y175C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000159436]
[ENSMUST00000161523]
[ENSMUST00000161847]
[ENSMUST00000162283]
|
AlphaFold |
Q91YT8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027800
AA Change: Y175C
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027800 Gene: ENSMUSG00000026519 AA Change: Y175C
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 |
silent
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 |
possibly damaging
Transcript: ENSMUST00000161523
AA Change: Y175C
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124021 Gene: ENSMUSG00000026519 AA Change: Y175C
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 |
noncoding transcript
Transcript: ENSMUST00000161942
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162283
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,635,364 (GRCm39) |
E213G |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,934,791 (GRCm39) |
L761P |
probably damaging |
Het |
Bbs7 |
A |
C |
3: 36,627,696 (GRCm39) |
L697R |
probably benign |
Het |
Cd74 |
G |
A |
18: 60,941,352 (GRCm39) |
R99H |
probably benign |
Het |
Cpne6 |
A |
G |
14: 55,751,137 (GRCm39) |
N182S |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,057 (GRCm39) |
H429R |
probably benign |
Het |
Dact2 |
A |
T |
17: 14,415,932 (GRCm39) |
M756K |
probably damaging |
Het |
Ets1 |
A |
G |
9: 32,645,455 (GRCm39) |
D234G |
probably damaging |
Het |
Fat3 |
A |
C |
9: 16,289,197 (GRCm39) |
S109A |
probably benign |
Het |
Fras1 |
G |
T |
5: 96,735,990 (GRCm39) |
M528I |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,261,548 (GRCm39) |
F1189L |
probably benign |
Het |
Ift81 |
A |
T |
5: 122,740,739 (GRCm39) |
|
probably benign |
Het |
Insyn2b |
A |
G |
11: 34,353,065 (GRCm39) |
E369G |
probably benign |
Het |
Lag3 |
A |
G |
6: 124,887,869 (GRCm39) |
S22P |
probably benign |
Het |
Mos |
G |
T |
4: 3,870,845 (GRCm39) |
Q324K |
probably benign |
Het |
Mtx2 |
T |
A |
2: 74,706,733 (GRCm39) |
V236E |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,820 (GRCm39) |
T568A |
probably benign |
Het |
Or5k8 |
A |
G |
16: 58,644,337 (GRCm39) |
F245S |
probably damaging |
Het |
Or6c35 |
T |
A |
10: 129,169,232 (GRCm39) |
L161M |
probably damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,585 (GRCm39) |
I31T |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,406,696 (GRCm39) |
M57I |
possibly damaging |
Het |
Or8b53 |
A |
C |
9: 38,667,194 (GRCm39) |
D70A |
probably damaging |
Het |
Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,634,008 (GRCm39) |
V1365A |
possibly damaging |
Het |
Prex2 |
G |
T |
1: 11,168,727 (GRCm39) |
C241F |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,113 (GRCm39) |
E157G |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,603,329 (GRCm39) |
H836Q |
probably benign |
Het |
Ptprd |
C |
T |
4: 76,161,884 (GRCm39) |
R117H |
probably damaging |
Het |
Rab11fip4 |
T |
C |
11: 79,574,216 (GRCm39) |
S102P |
probably benign |
Het |
Slc44a1 |
G |
T |
4: 53,536,405 (GRCm39) |
V194F |
probably damaging |
Het |
Synm |
T |
A |
7: 67,383,222 (GRCm39) |
H1480L |
probably benign |
Het |
Trmt61a |
C |
T |
12: 111,645,150 (GRCm39) |
R29C |
probably benign |
Het |
Ubap1 |
C |
T |
4: 41,379,236 (GRCm39) |
T150I |
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,223,214 (GRCm39) |
M353V |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,334,411 (GRCm39) |
M1135T |
possibly damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,196 (GRCm39) |
L31R |
probably damaging |
Het |
Wtap |
T |
C |
17: 13,188,342 (GRCm39) |
E186G |
probably benign |
Het |
Wwc2 |
T |
G |
8: 48,336,615 (GRCm39) |
N216H |
probably benign |
Het |
Zhx1 |
A |
T |
15: 57,917,841 (GRCm39) |
M135K |
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 |
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 |
2014-05-07 |