Incidental Mutation 'R0173:Tmem63a'
ID |
23689 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem63a
|
Ensembl Gene |
ENSMUSG00000026519 |
Gene Name |
transmembrane protein 63a |
Synonyms |
|
MMRRC Submission |
038445-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R0173 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 180782363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125287
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000159436]
[ENSMUST00000161523]
[ENSMUST00000161847]
[ENSMUST00000162283]
|
AlphaFold |
Q91YT8 |
Predicted Effect |
probably benign
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 benign
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: 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.1%
|
Validation Efficiency |
96% (64/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330008L17Rik |
G |
A |
8: 100,148,286 (GRCm39) |
|
noncoding transcript |
Het |
Akt1s1 |
C |
T |
7: 44,502,284 (GRCm39) |
P95S |
possibly damaging |
Het |
Ambra1 |
T |
C |
2: 91,640,564 (GRCm39) |
|
probably benign |
Het |
Aunip |
T |
A |
4: 134,250,861 (GRCm39) |
W269R |
probably damaging |
Het |
Bmper |
A |
G |
9: 23,136,125 (GRCm39) |
M69V |
probably benign |
Het |
Cdh2 |
A |
T |
18: 16,783,314 (GRCm39) |
|
probably benign |
Het |
Cenpe |
T |
C |
3: 134,965,744 (GRCm39) |
M2074T |
probably benign |
Het |
Col14a1 |
C |
T |
15: 55,351,928 (GRCm39) |
P1592S |
probably damaging |
Het |
Csgalnact1 |
G |
A |
8: 68,913,681 (GRCm39) |
R175C |
probably damaging |
Het |
Dtx1 |
A |
G |
5: 120,820,818 (GRCm39) |
|
probably benign |
Het |
Elmod3 |
T |
C |
6: 72,554,571 (GRCm39) |
D154G |
probably damaging |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Gab1 |
T |
C |
8: 81,526,789 (GRCm39) |
D103G |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,765,710 (GRCm39) |
D377G |
probably damaging |
Het |
Gramd1c |
C |
T |
16: 43,818,196 (GRCm39) |
R328K |
possibly damaging |
Het |
Hdac3 |
A |
G |
18: 38,074,806 (GRCm39) |
S312P |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,328,343 (GRCm39) |
|
probably null |
Het |
Intu |
T |
C |
3: 40,629,776 (GRCm39) |
|
probably null |
Het |
Lnpk |
T |
C |
2: 74,381,409 (GRCm39) |
K118R |
probably damaging |
Het |
Lzts3 |
A |
C |
2: 130,476,688 (GRCm39) |
*587G |
probably null |
Het |
Mctp2 |
C |
T |
7: 71,896,855 (GRCm39) |
|
probably null |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mmp23 |
G |
T |
4: 155,735,222 (GRCm39) |
R374S |
possibly damaging |
Het |
Morc3 |
G |
A |
16: 93,629,094 (GRCm39) |
|
probably null |
Het |
Mymk |
C |
T |
2: 26,952,262 (GRCm39) |
A161T |
probably damaging |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,133,859 (GRCm39) |
S3375G |
probably damaging |
Het |
Nedd1 |
T |
C |
10: 92,534,745 (GRCm39) |
D255G |
probably benign |
Het |
Nid2 |
T |
C |
14: 19,852,400 (GRCm39) |
|
probably benign |
Het |
Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
Nus1 |
A |
G |
10: 52,294,094 (GRCm39) |
H86R |
possibly damaging |
Het |
Or5b118 |
A |
T |
19: 13,449,065 (GRCm39) |
I244F |
probably benign |
Het |
Or7g17 |
A |
G |
9: 18,768,325 (GRCm39) |
I135V |
probably damaging |
Het |
Plcxd2 |
A |
T |
16: 45,785,542 (GRCm39) |
|
probably null |
Het |
Prdm9 |
T |
A |
17: 15,764,275 (GRCm39) |
D835V |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,764,297 (GRCm39) |
W828R |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,582,969 (GRCm39) |
S244P |
probably benign |
Het |
Psmd4 |
A |
T |
3: 94,940,234 (GRCm39) |
L159H |
probably damaging |
Het |
Qprt |
C |
T |
7: 126,707,543 (GRCm39) |
G215E |
probably damaging |
Het |
Rab3gap2 |
C |
A |
1: 184,982,104 (GRCm39) |
H385Q |
possibly damaging |
Het |
Rapgef5 |
A |
G |
12: 117,652,411 (GRCm39) |
D300G |
probably benign |
Het |
Rbl1 |
A |
T |
2: 157,001,605 (GRCm39) |
N894K |
probably benign |
Het |
Rgma |
C |
T |
7: 73,067,302 (GRCm39) |
R280W |
probably damaging |
Het |
Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
Rundc3a |
T |
A |
11: 102,289,071 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,318,075 (GRCm39) |
D496E |
probably benign |
Het |
Scn9a |
T |
C |
2: 66,363,437 (GRCm39) |
Y936C |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,159,564 (GRCm39) |
|
probably benign |
Het |
Serpinb9 |
G |
A |
13: 33,194,705 (GRCm39) |
D154N |
probably benign |
Het |
Slc48a1 |
A |
T |
15: 97,688,555 (GRCm39) |
H131L |
possibly damaging |
Het |
Slco1a6 |
T |
C |
6: 142,048,848 (GRCm39) |
N311D |
probably benign |
Het |
Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
Srrm2 |
C |
A |
17: 24,034,103 (GRCm39) |
|
probably benign |
Het |
Srsf12 |
A |
T |
4: 33,226,117 (GRCm39) |
S122C |
probably damaging |
Het |
Suclg2 |
G |
C |
6: 95,452,154 (GRCm39) |
|
probably benign |
Het |
Tbpl1 |
A |
T |
10: 22,583,523 (GRCm39) |
L149* |
probably null |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Tut1 |
C |
T |
19: 8,942,847 (GRCm39) |
R645* |
probably null |
Het |
Ubqln4 |
T |
A |
3: 88,462,686 (GRCm39) |
D50E |
probably benign |
Het |
Ubr5 |
A |
G |
15: 38,004,919 (GRCm39) |
S1227P |
probably damaging |
Het |
Vipas39 |
A |
G |
12: 87,297,285 (GRCm39) |
|
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vps26b |
G |
A |
9: 26,924,101 (GRCm39) |
T214I |
probably benign |
Het |
Xpc |
A |
G |
6: 91,481,717 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCCATCATAGGACGGGAGCACAG -3'
(R):5'- AGAAAGGGTCTCACCCAGCAAGTC -3'
Sequencing Primer
(F):5'- ctcatgccaatagctttgcc -3'
(R):5'- AGTCTCCCGAGAGGTTGACAG -3'
|
Posted On |
2013-04-16 |