Incidental Mutation 'R7129:Tmem63a'
| ID |
552496 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem63a
|
| Ensembl Gene |
ENSMUSG00000026519 |
| Gene Name |
transmembrane protein 63a |
| Synonyms |
|
| MMRRC Submission |
045214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R7129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180769909-180802677 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 180782441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 146
(I146T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027800]
[ENSMUST00000159436]
[ENSMUST00000161523]
[ENSMUST00000161847]
[ENSMUST00000162283]
|
| AlphaFold |
Q91YT8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027800
AA Change: I146T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: I146T
| 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 |
probably damaging
Transcript: ENSMUST00000159436
AA Change: I146T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125192
Gene: ENSMUSG00000026519
AA Change: I146T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RSN1_TM
|
50 |
173 |
2.5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161523
AA Change: I146T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: I146T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,209,199 (GRCm39) |
E443G |
probably damaging |
Het |
| 2700049A03Rik |
A |
G |
12: 71,263,004 (GRCm39) |
|
probably null |
Het |
| 3110082I17Rik |
A |
G |
5: 139,349,738 (GRCm39) |
Y104H |
probably damaging |
Het |
| Abcg4 |
T |
C |
9: 44,190,681 (GRCm39) |
K282E |
probably benign |
Het |
| Adamts17 |
T |
C |
7: 66,770,758 (GRCm39) |
S956P |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,986,235 (GRCm39) |
V74A |
probably damaging |
Het |
| Akt1 |
A |
T |
12: 112,626,083 (GRCm39) |
M63K |
probably benign |
Het |
| Arfrp1 |
G |
A |
2: 181,001,344 (GRCm39) |
R177* |
probably null |
Het |
| Arl11 |
A |
G |
14: 61,548,346 (GRCm39) |
E52G |
possibly damaging |
Het |
| BC051019 |
T |
C |
7: 109,319,825 (GRCm39) |
S10G |
|
Het |
| Bfsp2 |
T |
A |
9: 103,357,118 (GRCm39) |
E103V |
probably damaging |
Het |
| Bms1 |
G |
T |
6: 118,380,122 (GRCm39) |
C728* |
probably null |
Het |
| Cachd1 |
T |
G |
4: 100,775,263 (GRCm39) |
N159K |
probably null |
Het |
| Cd38 |
A |
G |
5: 44,067,651 (GRCm39) |
N294S |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,852,433 (GRCm39) |
N891S |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,370 (GRCm39) |
H836L |
probably damaging |
Het |
| Cldn16 |
A |
T |
16: 26,301,388 (GRCm39) |
D232V |
probably damaging |
Het |
| Dhx33 |
A |
T |
11: 70,884,689 (GRCm39) |
I425N |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,878,878 (GRCm39) |
N1506D |
probably damaging |
Het |
| Dok7 |
T |
C |
5: 35,236,392 (GRCm39) |
S227P |
probably damaging |
Het |
| Elf2 |
T |
C |
3: 51,168,432 (GRCm39) |
R201G |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,787,944 (GRCm39) |
H329R |
probably damaging |
Het |
| Etaa1 |
T |
C |
11: 17,890,339 (GRCm39) |
R841G |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,948,934 (GRCm39) |
Y926H |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,143 (GRCm39) |
H3849R |
probably benign |
Het |
| Hapln3 |
C |
T |
7: 78,771,572 (GRCm39) |
G106R |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,452,961 (GRCm39) |
|
probably null |
Het |
| Ifitm7 |
A |
T |
16: 13,801,600 (GRCm39) |
I53N |
possibly damaging |
Het |
| Il6ra |
T |
C |
3: 89,778,554 (GRCm39) |
N433D |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,329,191 (GRCm39) |
V1048I |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,588 (GRCm39) |
T862A |
probably benign |
Het |
| Mcrs1 |
G |
A |
15: 99,146,609 (GRCm39) |
L141F |
probably damaging |
Het |
| Nkx3-2 |
A |
G |
5: 41,919,017 (GRCm39) |
S324P |
probably damaging |
Het |
| Nmi |
A |
T |
2: 51,845,936 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,372,325 (GRCm39) |
K480E |
possibly damaging |
Het |
| Oit3 |
T |
A |
10: 59,264,166 (GRCm39) |
I323F |
probably damaging |
Het |
| Or2ag17 |
T |
C |
7: 106,389,690 (GRCm39) |
K173E |
probably benign |
Het |
| Or5b98 |
A |
T |
19: 12,931,478 (GRCm39) |
H175L |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,291 (GRCm39) |
E640G |
probably benign |
Het |
| Phip |
C |
T |
9: 82,759,353 (GRCm39) |
V1366I |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,174 (GRCm39) |
M162V |
probably null |
Het |
| Podxl2 |
A |
G |
6: 88,820,487 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rab4a |
A |
T |
8: 124,554,069 (GRCm39) |
D40V |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,530,537 (GRCm39) |
F603L |
probably benign |
Het |
| Slfn5 |
A |
T |
11: 82,851,976 (GRCm39) |
K701* |
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,582,446 (GRCm39) |
D223G |
|
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,350 (GRCm39) |
T163S |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,259,287 (GRCm39) |
D1532G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,646,515 (GRCm39) |
G12844W |
probably damaging |
Het |
| Usp22 |
T |
C |
11: 61,053,775 (GRCm39) |
I190V |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,219,412 (GRCm39) |
I536T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn1r9 |
A |
C |
6: 57,048,611 (GRCm39) |
T229P |
probably damaging |
Het |
| Zbtb21 |
AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC |
16: 97,752,887 (GRCm39) |
|
probably benign |
Het |
| Zbtb8a |
G |
C |
4: 129,254,188 (GRCm39) |
A102G |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,681,971 (GRCm39) |
W57R |
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 |
|
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 |
|
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'- AACACAGGAGATGGTAGTTCATTC -3'
(R):5'- AAAGTCACCCTCAGACTGTCTC -3'
Sequencing Primer
(F):5'- TTCATTCACTGAGAGCACGG -3'
(R):5'- AGACTGTCTCCCATCCCCCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation