Incidental Mutation 'R2413:Tmem63a'
ID |
250048 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem63a
|
Ensembl Gene |
ENSMUSG00000026519 |
Gene Name |
transmembrane protein 63a |
Synonyms |
|
MMRRC Submission |
040377-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R2413 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 180788640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 326
(M326V)
|
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: M326V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027800 Gene: ENSMUSG00000026519 AA Change: M326V
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 benign
Transcript: ENSMUST00000161523
AA Change: M326V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124021 Gene: ENSMUSG00000026519 AA Change: M326V
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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
G |
T |
8: 89,036,446 (GRCm39) |
A168S |
probably benign |
Het |
Aspm |
A |
C |
1: 139,405,495 (GRCm39) |
I1461L |
probably damaging |
Het |
Bcas3 |
C |
T |
11: 85,422,681 (GRCm39) |
L517F |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,024,924 (GRCm39) |
|
probably benign |
Het |
Cfap74 |
A |
C |
4: 155,503,081 (GRCm39) |
R24S |
possibly damaging |
Het |
Clec1a |
T |
A |
6: 129,412,218 (GRCm39) |
S51C |
probably damaging |
Het |
Cyp2c40 |
G |
T |
19: 39,792,331 (GRCm39) |
C204* |
probably null |
Het |
Dgki |
C |
A |
6: 36,824,408 (GRCm39) |
R1040L |
possibly damaging |
Het |
F830016B08Rik |
T |
A |
18: 60,433,365 (GRCm39) |
Y149* |
probably null |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Frmpd1 |
A |
T |
4: 45,278,969 (GRCm39) |
T565S |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,064,290 (GRCm39) |
|
probably null |
Het |
Ipcef1 |
G |
A |
10: 6,885,225 (GRCm39) |
P92S |
probably damaging |
Het |
Kctd12 |
T |
A |
14: 103,219,603 (GRCm39) |
I92F |
probably damaging |
Het |
Kntc1 |
C |
T |
5: 123,902,212 (GRCm39) |
T285I |
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,728,657 (GRCm39) |
N32K |
probably damaging |
Het |
Mier3 |
T |
C |
13: 111,851,662 (GRCm39) |
|
probably benign |
Het |
Myd88 |
T |
C |
9: 119,166,484 (GRCm39) |
T277A |
probably benign |
Het |
Myo3a |
T |
A |
2: 22,467,924 (GRCm39) |
Y1331N |
probably benign |
Het |
Neb |
C |
A |
2: 52,100,644 (GRCm39) |
W4422L |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,523,243 (GRCm39) |
S1019P |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,131,792 (GRCm39) |
E354G |
probably damaging |
Het |
Ntrk2 |
G |
T |
13: 59,022,226 (GRCm39) |
R427L |
possibly damaging |
Het |
Or51g1 |
A |
G |
7: 102,634,009 (GRCm39) |
S121P |
probably damaging |
Het |
Ptprd |
T |
A |
4: 76,051,437 (GRCm39) |
D262V |
probably damaging |
Het |
Serpina9 |
C |
T |
12: 103,967,485 (GRCm39) |
|
probably null |
Het |
Setd2 |
A |
G |
9: 110,376,572 (GRCm39) |
E129G |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,896,643 (GRCm39) |
L444P |
probably damaging |
Het |
Synj2 |
C |
A |
17: 6,078,849 (GRCm39) |
P217T |
probably damaging |
Het |
Tex52 |
T |
C |
6: 128,356,871 (GRCm39) |
L188P |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,937,252 (GRCm39) |
T2900A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCATCTATCTGCCTGGAG -3'
(R):5'- CTTCCAGCTGTCACTCAGAC -3'
Sequencing Primer
(F):5'- ATAGGCAGGGGTCTGGG -3'
(R):5'- GTCACTCAGACATAAACTGGACTTC -3'
|
Posted On |
2014-11-12 |