Incidental Mutation 'R3430:Tmem131'
| ID |
268040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131
|
| Ensembl Gene |
ENSMUSG00000026116 |
| Gene Name |
transmembrane protein 131 |
| Synonyms |
Rw1, CC28, YR-23, Neg, D1Bwg0491e, 2610524E03Rik |
| MMRRC Submission |
040648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
R3430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36831270-36978714 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 36847902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027290]
[ENSMUST00000194563]
|
| AlphaFold |
O70472 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027290
|
| SMART Domains |
Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
89 |
N/A |
INTRINSIC |
|
Pfam:TMEM131_like
|
106 |
189 |
1.7e-32 |
PFAM |
|
transmembrane domain
|
1081 |
1103 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1116 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1258 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1315 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1382 |
N/A |
INTRINSIC |
|
low complexity region
|
1384 |
1433 |
N/A |
INTRINSIC |
|
low complexity region
|
1460 |
1471 |
N/A |
INTRINSIC |
|
low complexity region
|
1595 |
1610 |
N/A |
INTRINSIC |
|
low complexity region
|
1613 |
1626 |
N/A |
INTRINSIC |
|
low complexity region
|
1628 |
1646 |
N/A |
INTRINSIC |
|
low complexity region
|
1675 |
1684 |
N/A |
INTRINSIC |
|
low complexity region
|
1693 |
1701 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1748 |
N/A |
INTRINSIC |
|
low complexity region
|
1760 |
1779 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191381
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194563
|
| SMART Domains |
Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
77 |
89 |
N/A |
INTRINSIC |
|
Pfam:DUF3651
|
170 |
243 |
1.9e-27 |
PFAM |
|
Pfam:DUF3651
|
500 |
580 |
4.5e-16 |
PFAM |
|
Pfam:DUF3651
|
631 |
706 |
5.2e-15 |
PFAM |
|
transmembrane domain
|
1081 |
1103 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1116 |
1138 |
N/A |
INTRINSIC |
|
low complexity region
|
1232 |
1258 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1315 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1382 |
N/A |
INTRINSIC |
|
low complexity region
|
1384 |
1433 |
N/A |
INTRINSIC |
|
low complexity region
|
1460 |
1471 |
N/A |
INTRINSIC |
|
low complexity region
|
1595 |
1610 |
N/A |
INTRINSIC |
|
low complexity region
|
1613 |
1626 |
N/A |
INTRINSIC |
|
low complexity region
|
1628 |
1646 |
N/A |
INTRINSIC |
|
low complexity region
|
1675 |
1684 |
N/A |
INTRINSIC |
|
low complexity region
|
1693 |
1701 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1748 |
N/A |
INTRINSIC |
|
low complexity region
|
1760 |
1779 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1810 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,984,322 (GRCm39) |
I1869V |
probably benign |
Het |
| Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
| Arhgef19 |
T |
C |
4: 140,984,111 (GRCm39) |
L777P |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,552,322 (GRCm39) |
|
probably benign |
Het |
| Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
| Bpifa6 |
A |
G |
2: 153,831,171 (GRCm39) |
I246V |
probably benign |
Het |
| Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
| Ccdc88a |
T |
A |
11: 29,398,033 (GRCm39) |
D255E |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,844,517 (GRCm39) |
V1542A |
probably damaging |
Het |
| Cimip1 |
T |
C |
2: 173,370,066 (GRCm39) |
Y114H |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,655,078 (GRCm39) |
L1145* |
probably null |
Het |
| Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
| Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,384,745 (GRCm39) |
N94I |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
| Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
| Grin3a |
C |
A |
4: 49,792,534 (GRCm39) |
V400L |
probably benign |
Het |
| Htr3a |
T |
C |
9: 48,818,688 (GRCm39) |
N82S |
probably benign |
Het |
| Il23r |
A |
C |
6: 67,429,458 (GRCm39) |
S295A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,838,110 (GRCm39) |
K869E |
probably benign |
Het |
| Lce1d |
A |
T |
3: 92,593,037 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,339,324 (GRCm39) |
D42G |
probably benign |
Het |
| Mapk8ip2 |
A |
G |
15: 89,341,485 (GRCm39) |
E232G |
possibly damaging |
Het |
| Marf1 |
A |
G |
16: 13,958,041 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,440,492 (GRCm39) |
H650L |
probably benign |
Het |
| Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,365 (GRCm39) |
S263T |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
| Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,727,882 (GRCm39) |
F180L |
possibly damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,435 (GRCm39) |
F102I |
probably damaging |
Het |
| Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
| P2ry12 |
C |
T |
3: 59,125,448 (GRCm39) |
D76N |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
| Prex2 |
T |
G |
1: 11,220,078 (GRCm39) |
I683S |
possibly damaging |
Het |
| Prss34 |
A |
T |
17: 25,518,078 (GRCm39) |
K86I |
probably benign |
Het |
| Ptpn20 |
T |
A |
14: 33,336,485 (GRCm39) |
V108D |
possibly damaging |
Het |
| Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
| Rsad2 |
T |
C |
12: 26,506,418 (GRCm39) |
M1V |
probably null |
Het |
| S1pr5 |
A |
G |
9: 21,156,378 (GRCm39) |
V16A |
probably benign |
Het |
| Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
| Serpinb3b |
A |
T |
1: 107,082,425 (GRCm39) |
S280T |
probably benign |
Het |
| Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
| Sh3yl1 |
T |
C |
12: 31,009,841 (GRCm39) |
S253P |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,169,686 (GRCm39) |
I14T |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,412,816 (GRCm39) |
M559K |
probably benign |
Het |
| Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,107,156 (GRCm39) |
K467E |
probably damaging |
Het |
| Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,283,437 (GRCm39) |
F706S |
probably benign |
Het |
| Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,758 (GRCm39) |
H642L |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,246,428 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem131 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00561:Tmem131
|
APN |
1 |
36,850,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00945:Tmem131
|
APN |
1 |
36,866,086 (GRCm39) |
splice site |
probably benign |
|
|
IGL01107:Tmem131
|
APN |
1 |
36,868,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01401:Tmem131
|
APN |
1 |
36,838,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01533:Tmem131
|
APN |
1 |
36,857,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01701:Tmem131
|
APN |
1 |
36,847,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01784:Tmem131
|
APN |
1 |
36,854,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01890:Tmem131
|
APN |
1 |
36,862,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL01969:Tmem131
|
APN |
1 |
36,864,541 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02327:Tmem131
|
APN |
1 |
36,838,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02707:Tmem131
|
APN |
1 |
36,864,560 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02743:Tmem131
|
APN |
1 |
36,832,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03111:Tmem131
|
APN |
1 |
36,867,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0063:Tmem131
|
UTSW |
1 |
36,858,209 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0063:Tmem131
|
UTSW |
1 |
36,858,209 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0238:Tmem131
|
UTSW |
1 |
36,867,131 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Tmem131
|
UTSW |
1 |
36,867,131 (GRCm39) |
splice site |
probably benign |
|
|
R0499:Tmem131
|
UTSW |
1 |
36,880,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0548:Tmem131
|
UTSW |
1 |
36,877,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Tmem131
|
UTSW |
1 |
36,855,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0975:Tmem131
|
UTSW |
1 |
36,893,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Tmem131
|
UTSW |
1 |
36,833,900 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1170:Tmem131
|
UTSW |
1 |
36,873,979 (GRCm39) |
nonsense |
probably null |
|
|
R1443:Tmem131
|
UTSW |
1 |
36,864,559 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1448:Tmem131
|
UTSW |
1 |
36,866,439 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1472:Tmem131
|
UTSW |
1 |
36,855,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1530:Tmem131
|
UTSW |
1 |
36,866,090 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1672:Tmem131
|
UTSW |
1 |
36,863,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1872:Tmem131
|
UTSW |
1 |
36,847,008 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1914:Tmem131
|
UTSW |
1 |
36,835,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Tmem131
|
UTSW |
1 |
36,835,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Tmem131
|
UTSW |
1 |
36,851,352 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1971:Tmem131
|
UTSW |
1 |
36,843,680 (GRCm39) |
nonsense |
probably null |
|
|
R2146:Tmem131
|
UTSW |
1 |
36,851,690 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2148:Tmem131
|
UTSW |
1 |
36,851,690 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2149:Tmem131
|
UTSW |
1 |
36,851,690 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2150:Tmem131
|
UTSW |
1 |
36,851,690 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2386:Tmem131
|
UTSW |
1 |
36,868,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2879:Tmem131
|
UTSW |
1 |
36,880,788 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2903:Tmem131
|
UTSW |
1 |
36,864,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3821:Tmem131
|
UTSW |
1 |
36,847,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3961:Tmem131
|
UTSW |
1 |
36,858,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Tmem131
|
UTSW |
1 |
36,847,874 (GRCm39) |
intron |
probably benign |
|
|
R4154:Tmem131
|
UTSW |
1 |
36,847,874 (GRCm39) |
intron |
probably benign |
|
|
R4502:Tmem131
|
UTSW |
1 |
36,864,560 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4503:Tmem131
|
UTSW |
1 |
36,864,560 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4795:Tmem131
|
UTSW |
1 |
36,880,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Tmem131
|
UTSW |
1 |
36,866,255 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5068:Tmem131
|
UTSW |
1 |
36,893,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Tmem131
|
UTSW |
1 |
36,893,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Tmem131
|
UTSW |
1 |
36,911,639 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R5507:Tmem131
|
UTSW |
1 |
36,928,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Tmem131
|
UTSW |
1 |
36,838,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5913:Tmem131
|
UTSW |
1 |
36,858,209 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6044:Tmem131
|
UTSW |
1 |
36,920,422 (GRCm39) |
nonsense |
probably null |
|
|
R6125:Tmem131
|
UTSW |
1 |
36,847,387 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6259:Tmem131
|
UTSW |
1 |
36,858,209 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6392:Tmem131
|
UTSW |
1 |
36,920,423 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6704:Tmem131
|
UTSW |
1 |
36,835,261 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6828:Tmem131
|
UTSW |
1 |
36,843,724 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6964:Tmem131
|
UTSW |
1 |
36,835,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7034:Tmem131
|
UTSW |
1 |
36,832,054 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7036:Tmem131
|
UTSW |
1 |
36,832,054 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7081:Tmem131
|
UTSW |
1 |
36,928,376 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7278:Tmem131
|
UTSW |
1 |
36,835,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7282:Tmem131
|
UTSW |
1 |
36,880,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:Tmem131
|
UTSW |
1 |
36,893,928 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7635:Tmem131
|
UTSW |
1 |
36,911,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7916:Tmem131
|
UTSW |
1 |
36,862,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Tmem131
|
UTSW |
1 |
36,833,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Tmem131
|
UTSW |
1 |
36,847,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Tmem131
|
UTSW |
1 |
36,847,974 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8461:Tmem131
|
UTSW |
1 |
36,833,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Tmem131
|
UTSW |
1 |
36,838,186 (GRCm39) |
splice site |
probably benign |
|
|
R8902:Tmem131
|
UTSW |
1 |
36,848,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8915:Tmem131
|
UTSW |
1 |
36,868,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Tmem131
|
UTSW |
1 |
36,867,228 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8994:Tmem131
|
UTSW |
1 |
36,854,538 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9105:Tmem131
|
UTSW |
1 |
36,854,591 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9156:Tmem131
|
UTSW |
1 |
36,880,767 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9328:Tmem131
|
UTSW |
1 |
36,858,236 (GRCm39) |
nonsense |
probably null |
|
|
R9501:Tmem131
|
UTSW |
1 |
36,858,265 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9633:Tmem131
|
UTSW |
1 |
36,847,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Tmem131
|
UTSW |
1 |
36,835,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACAACCTTCTACAGTTTG -3'
(R):5'- ATCAAGGAGCCTGTGGTAACC -3'
Sequencing Primer
(F):5'- GTCACCTCTGACAGTTATAAATAAGG -3'
(R):5'- GAGCCTGTGGTAACCAAATATTATTC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation