Incidental Mutation 'R3704:Tmem63a'
ID |
258638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem63a
|
Ensembl Gene |
ENSMUSG00000026519 |
Gene Name |
transmembrane protein 63a |
Synonyms |
|
MMRRC Submission |
040697-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R3704 (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: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly 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 |
Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
Zmat4 |
A |
G |
8: 24,287,430 (GRCm39) |
R59G |
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 |
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'- CGGATGTCCATGTCTGAGAG -3'
(R):5'- CTGCTTTCAGCTTAAAAGGCC -3'
Sequencing Primer
(F):5'- AGAGACTAAGCCTCTCTCTCGG -3'
(R):5'- TGCTGTGCAAGTATGAAATCCCC -3'
|
Posted On |
2015-01-23 |