Incidental Mutation 'R3963:Tmem63a'
| ID |
312158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63a
|
| Ensembl Gene |
ENSMUSG00000026519 |
| Gene Name |
transmembrane protein 63a |
| Synonyms |
|
| MMRRC Submission |
040932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R3963 (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: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,504,443 (GRCm39) |
D59G |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,728,245 (GRCm39) |
S783T |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,468,025 (GRCm39) |
D1725G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Btbd8 |
G |
A |
5: 107,655,222 (GRCm39) |
C1007Y |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,252,011 (GRCm39) |
T101K |
possibly damaging |
Het |
| Ccdc85a |
A |
C |
11: 28,526,396 (GRCm39) |
M376R |
probably benign |
Het |
| Cd200r1 |
T |
A |
16: 44,613,158 (GRCm39) |
C255S |
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,779,972 (GRCm39) |
M119V |
probably benign |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Clptm1 |
C |
T |
7: 19,372,121 (GRCm39) |
W238* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,842,047 (GRCm39) |
V302A |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,969 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
A |
9: 64,769,613 (GRCm39) |
I440N |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,184,284 (GRCm39) |
V35I |
probably damaging |
Het |
| Dyrk1a |
T |
A |
16: 94,464,605 (GRCm39) |
M71K |
probably benign |
Het |
| Exoc3l2 |
G |
A |
7: 19,229,181 (GRCm39) |
G200S |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,361,442 (GRCm39) |
L122P |
possibly damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,258,914 (GRCm39) |
I114N |
probably damaging |
Het |
| Fpr-rs6 |
G |
A |
17: 20,402,479 (GRCm39) |
P294L |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,940,638 (GRCm39) |
T428A |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,228 (GRCm39) |
M1K |
probably null |
Het |
| Gdf3 |
C |
T |
6: 122,583,717 (GRCm39) |
V217I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,292,397 (GRCm39) |
|
probably null |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itpkc |
T |
C |
7: 26,926,934 (GRCm39) |
T327A |
probably damaging |
Het |
| Jade1 |
T |
C |
3: 41,555,845 (GRCm39) |
V304A |
probably damaging |
Het |
| Leo1 |
C |
A |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
T |
3: 157,866,042 (GRCm39) |
L1233Q |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Matn2 |
C |
A |
15: 34,388,937 (GRCm39) |
Y342* |
probably null |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,315,454 (GRCm39) |
H244R |
possibly damaging |
Het |
| Mmaa |
A |
T |
8: 79,994,843 (GRCm39) |
V321E |
probably damaging |
Het |
| Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
| Oas1e |
A |
G |
5: 120,932,205 (GRCm39) |
V146A |
probably damaging |
Het |
| Or52z1 |
G |
T |
7: 103,437,241 (GRCm39) |
T81K |
probably benign |
Het |
| Plcxd2 |
T |
C |
16: 45,800,864 (GRCm39) |
K120R |
probably damaging |
Het |
| Prex2 |
G |
T |
1: 11,180,581 (GRCm39) |
C382F |
possibly damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,510 (GRCm39) |
H170Q |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,427,661 (GRCm39) |
T747A |
probably damaging |
Het |
| Qki |
G |
A |
17: 10,435,394 (GRCm39) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,869,085 (GRCm39) |
T503A |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,194,370 (GRCm39) |
|
probably null |
Het |
| Snap91 |
A |
T |
9: 86,657,665 (GRCm39) |
W509R |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Tmem267 |
A |
T |
13: 119,629,175 (GRCm39) |
|
probably null |
Het |
| Tnfaip8 |
C |
A |
18: 50,223,653 (GRCm39) |
H154N |
possibly damaging |
Het |
| Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,954,816 (GRCm39) |
E60G |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,849,136 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,224 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,276,477 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,360,750 (GRCm39) |
R26* |
probably null |
Het |
| Vmn1r222 |
A |
G |
13: 23,417,102 (GRCm39) |
V37A |
probably benign |
Het |
| Vmn2r4 |
T |
A |
3: 64,322,572 (GRCm39) |
N49I |
probably damaging |
Het |
| Zfp979 |
A |
T |
4: 147,697,588 (GRCm39) |
C374S |
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 |
|
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 |
|
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'- CGGATGTCCATGTCTGAGAG -3'
(R):5'- CCTGCTTTCAGCTTAAAAGGCC -3'
Sequencing Primer
(F):5'- AGAGACTAAGCCTCTCTCTCGG -3'
(R):5'- TGCTGTGCAAGTATGAAATCCCC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation