Incidental Mutation 'R3705:Tmem63a'
ID |
258684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem63a
|
Ensembl Gene |
ENSMUSG00000026519 |
Gene Name |
transmembrane protein 63a |
Synonyms |
|
MMRRC Submission |
040698-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R3705 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 180790679 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 446
(D446N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000161523]
|
AlphaFold |
Q91YT8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027800
AA Change: D446N
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000027800 Gene: ENSMUSG00000026519 AA Change: D446N
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 |
possibly damaging
Transcript: ENSMUST00000161523
AA Change: D446N
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000124021 Gene: ENSMUSG00000026519 AA Change: D446N
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
|
Meta Mutation Damage Score |
0.6253 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Abca12 |
T |
C |
1: 71,324,864 (GRCm39) |
D1538G |
probably damaging |
Het |
Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Csf3r |
A |
G |
4: 125,926,078 (GRCm39) |
D221G |
possibly damaging |
Het |
Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
G |
A |
12: 110,607,020 (GRCm39) |
V2566I |
possibly damaging |
Het |
Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
Fam133b |
T |
C |
5: 3,611,034 (GRCm39) |
|
probably benign |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
Grm1 |
G |
A |
10: 10,658,473 (GRCm39) |
T339I |
possibly damaging |
Het |
Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,862,416 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
A |
G |
5: 107,040,705 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,418,781 (GRCm39) |
|
probably null |
Het |
Igfn1 |
T |
C |
1: 135,896,147 (GRCm39) |
N1473S |
probably benign |
Het |
Jak3 |
A |
G |
8: 72,134,166 (GRCm39) |
K423E |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
Lrrc8d |
T |
C |
5: 105,961,341 (GRCm39) |
S584P |
probably damaging |
Het |
Nipal4 |
T |
C |
11: 46,052,678 (GRCm39) |
|
probably benign |
Het |
Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
T |
C |
11: 55,931,300 (GRCm39) |
Y137C |
probably damaging |
Het |
Nod2 |
T |
C |
8: 89,379,948 (GRCm39) |
S150P |
probably benign |
Het |
Or5w22 |
A |
G |
2: 87,362,412 (GRCm39) |
I12V |
probably benign |
Het |
Pdgfc |
T |
C |
3: 81,111,751 (GRCm39) |
|
probably null |
Het |
Phldb1 |
G |
T |
9: 44,605,691 (GRCm39) |
H1323N |
probably damaging |
Het |
Ppp1r14c |
A |
G |
10: 3,373,524 (GRCm39) |
I112V |
possibly damaging |
Het |
Pramel26 |
T |
C |
4: 143,538,345 (GRCm39) |
T209A |
probably benign |
Het |
Rcc1l |
A |
T |
5: 134,183,030 (GRCm39) |
V414E |
probably damaging |
Het |
Riok3 |
A |
G |
18: 12,282,011 (GRCm39) |
M327V |
probably benign |
Het |
Sf3b4 |
T |
C |
3: 96,083,944 (GRCm39) |
|
probably benign |
Het |
Spag6 |
A |
G |
2: 18,715,368 (GRCm39) |
Y49C |
probably damaging |
Het |
Syngap1 |
T |
C |
17: 27,178,994 (GRCm39) |
S495P |
probably damaging |
Het |
Tedc2 |
A |
G |
17: 24,435,361 (GRCm39) |
S343P |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,959,153 (GRCm39) |
D1132V |
probably damaging |
Het |
Top1 |
G |
A |
2: 160,544,744 (GRCm39) |
|
probably null |
Het |
Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
Tph2 |
G |
A |
10: 114,955,798 (GRCm39) |
Q332* |
probably null |
Het |
Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
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 |
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 |
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'- AGCGGATGTCCATGTCTGAG -3'
(R):5'- GCTTTCAGCTTAAAAGGCCAAATG -3'
Sequencing Primer
(F):5'- AGAGACTAAGCCTCTCTCTCGG -3'
(R):5'- TGCTGTGCAAGTATGAAATCCCC -3'
|
Posted On |
2015-01-23 |