Incidental Mutation 'R0548:Tmem131'
ID |
44939 |
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 |
038740-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.885)
|
Stock # |
R0548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
36831270-36978714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 36877119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 240
(V240A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027290]
[ENSMUST00000185964]
[ENSMUST00000194563]
|
AlphaFold |
O70472 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027290
AA Change: V240A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027290 Gene: ENSMUSG00000026116 AA Change: V240A
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 |
probably benign
Transcript: ENSMUST00000185964
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194563
AA Change: V240A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142307 Gene: ENSMUSG00000026116 AA Change: V240A
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 |
0.1377 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
97% (62/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
G |
8: 41,279,504 (GRCm39) |
C632G |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
Agfg1 |
A |
G |
1: 82,864,152 (GRCm39) |
T447A |
probably damaging |
Het |
Ankrd37 |
C |
T |
8: 46,451,433 (GRCm39) |
|
probably null |
Het |
Apob |
A |
T |
12: 8,056,282 (GRCm39) |
D1555V |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,654,849 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
A |
5: 150,468,400 (GRCm39) |
D2242E |
probably damaging |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,267,379 (GRCm39) |
|
probably null |
Het |
Cox10 |
A |
T |
11: 63,867,178 (GRCm39) |
Y273N |
probably damaging |
Het |
Dcbld2 |
A |
T |
16: 58,275,508 (GRCm39) |
D408V |
probably damaging |
Het |
Enam |
A |
T |
5: 88,650,964 (GRCm39) |
E824D |
probably damaging |
Het |
Epm2aip1 |
T |
C |
9: 111,102,409 (GRCm39) |
Y461H |
probably damaging |
Het |
Fam72a |
T |
A |
1: 131,461,599 (GRCm39) |
S95T |
probably damaging |
Het |
Fiz1 |
A |
T |
7: 5,012,167 (GRCm39) |
V117D |
possibly damaging |
Het |
Gm10355 |
C |
T |
3: 101,214,376 (GRCm39) |
|
noncoding transcript |
Het |
Gm11595 |
A |
T |
11: 99,662,967 (GRCm39) |
C238S |
unknown |
Het |
Gm7589 |
T |
G |
9: 59,053,439 (GRCm39) |
|
noncoding transcript |
Het |
H6pd |
A |
T |
4: 150,066,073 (GRCm39) |
V771E |
probably damaging |
Het |
Htt |
T |
C |
5: 35,028,090 (GRCm39) |
L1782P |
probably damaging |
Het |
Il33 |
T |
C |
19: 29,932,047 (GRCm39) |
S147P |
probably benign |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,367,982 (GRCm39) |
|
probably benign |
Het |
Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,568,191 (GRCm39) |
K1510R |
unknown |
Het |
Marco |
T |
C |
1: 120,419,767 (GRCm39) |
T187A |
probably benign |
Het |
Mki67 |
A |
T |
7: 135,298,637 (GRCm39) |
N2132K |
possibly damaging |
Het |
Mki67 |
T |
A |
7: 135,296,985 (GRCm39) |
K2683M |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,098,979 (GRCm39) |
V602A |
probably damaging |
Het |
Mphosph10 |
T |
A |
7: 64,028,548 (GRCm39) |
M536L |
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
N4bp2 |
G |
T |
5: 65,965,496 (GRCm39) |
V1182L |
probably benign |
Het |
Nlrc5 |
C |
A |
8: 95,248,411 (GRCm39) |
F1715L |
probably null |
Het |
Nsd2 |
T |
A |
5: 34,050,882 (GRCm39) |
V1253E |
probably damaging |
Het |
Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
Or2a52 |
T |
A |
6: 43,144,121 (GRCm39) |
I43K |
probably benign |
Het |
Or4c120 |
C |
A |
2: 89,000,992 (GRCm39) |
C188F |
probably damaging |
Het |
Or8g18 |
A |
T |
9: 39,149,667 (GRCm39) |
S18T |
probably benign |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,125,582 (GRCm39) |
N4K |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,134,950 (GRCm39) |
I1751N |
probably damaging |
Het |
Postn |
C |
A |
3: 54,274,997 (GRCm39) |
S122* |
probably null |
Het |
Ppp4r4 |
A |
T |
12: 103,579,074 (GRCm39) |
R762* |
probably null |
Het |
Rrm1 |
G |
T |
7: 102,116,274 (GRCm39) |
|
probably null |
Het |
Rrp15 |
A |
G |
1: 186,468,431 (GRCm39) |
V195A |
probably benign |
Het |
Rtl1 |
T |
A |
12: 109,558,089 (GRCm39) |
D1250V |
probably damaging |
Het |
Rxrg |
T |
C |
1: 167,458,788 (GRCm39) |
|
probably benign |
Het |
Scn10a |
T |
C |
9: 119,494,994 (GRCm39) |
K416E |
probably benign |
Het |
Serping1 |
T |
C |
2: 84,600,425 (GRCm39) |
|
probably benign |
Het |
Slc12a6 |
T |
C |
2: 112,166,269 (GRCm39) |
|
probably null |
Het |
Smo |
A |
T |
6: 29,759,585 (GRCm39) |
Q639L |
possibly damaging |
Het |
Synrg |
T |
C |
11: 83,873,014 (GRCm39) |
|
probably benign |
Het |
Tars2 |
T |
C |
3: 95,649,971 (GRCm39) |
D470G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,542,709 (GRCm39) |
N1399S |
possibly damaging |
Het |
Tmem232 |
G |
A |
17: 65,689,615 (GRCm39) |
T500I |
probably benign |
Het |
Toporsl |
G |
A |
4: 52,612,140 (GRCm39) |
V678M |
possibly damaging |
Het |
Vmn1r7 |
A |
T |
6: 57,002,066 (GRCm39) |
F65I |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,764,578 (GRCm39) |
M2257I |
probably benign |
Het |
Wdr20rt |
T |
A |
12: 65,274,089 (GRCm39) |
D344E |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,758 (GRCm39) |
A2333V |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,631,452 (GRCm39) |
K1381R |
probably benign |
Het |
Zscan18 |
G |
T |
7: 12,508,103 (GRCm39) |
P466T |
probably damaging |
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 |
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 |
R3430:Tmem131
|
UTSW |
1 |
36,847,902 (GRCm39) |
splice site |
probably benign |
|
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'- ATGGCAGGAATAACTCTTCTGTGAACC -3'
(R):5'- CTCCAGCCCTCCTGTAGAGACC -3'
Sequencing Primer
(F):5'- AGCAAGCTCTGCTTCCACT -3'
(R):5'- gattgcctcagcctccc -3'
|
Posted On |
2013-06-11 |