Incidental Mutation 'R1443:Tmem131'
ID |
158619 |
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 |
039498-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.885)
|
Stock # |
R1443 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
36831270-36978714 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 36864559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 558
(T558I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027290]
[ENSMUST00000186486]
[ENSMUST00000194563]
|
AlphaFold |
O70472 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027290
AA Change: T558I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000027290 Gene: ENSMUSG00000026116 AA Change: T558I
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: ENSMUST00000186486
|
SMART Domains |
Protein: ENSMUSP00000142080 Gene: ENSMUSG00000026116
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000194563
AA Change: T558I
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142307 Gene: ENSMUSG00000026116 AA Change: T558I
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,706,056 (GRCm39) |
M99V |
possibly damaging |
Het |
Adamtsl2 |
T |
A |
2: 26,993,078 (GRCm39) |
C703S |
possibly damaging |
Het |
Afap1 |
G |
T |
5: 36,126,005 (GRCm39) |
K333N |
probably damaging |
Het |
Aldh3a2 |
G |
A |
11: 61,155,133 (GRCm39) |
S137L |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,882,379 (GRCm39) |
K107M |
possibly damaging |
Het |
Aoc1l1 |
A |
T |
6: 48,952,849 (GRCm39) |
Y258F |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,153,624 (GRCm39) |
S56R |
probably damaging |
Het |
Bmp8a |
G |
T |
4: 123,210,758 (GRCm39) |
S252R |
possibly damaging |
Het |
C7 |
T |
C |
15: 5,088,901 (GRCm39) |
I13M |
probably benign |
Het |
Cblb |
T |
A |
16: 51,959,974 (GRCm39) |
D322E |
possibly damaging |
Het |
Cfap54 |
G |
A |
10: 92,768,583 (GRCm39) |
T180I |
probably damaging |
Het |
Clrn2 |
C |
T |
5: 45,617,453 (GRCm39) |
A108V |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,793,796 (GRCm39) |
D510E |
probably damaging |
Het |
Cyp2c40 |
A |
T |
19: 39,766,415 (GRCm39) |
N393K |
possibly damaging |
Het |
Dcaf5 |
T |
C |
12: 80,410,843 (GRCm39) |
Y294C |
probably damaging |
Het |
Dclk3 |
T |
A |
9: 111,298,088 (GRCm39) |
M544K |
probably benign |
Het |
Ell3 |
A |
T |
2: 121,269,946 (GRCm39) |
F388I |
probably damaging |
Het |
Fam78b |
A |
G |
1: 166,906,329 (GRCm39) |
I163V |
probably damaging |
Het |
Gnptab |
T |
C |
10: 88,269,943 (GRCm39) |
L882P |
probably damaging |
Het |
Herc2 |
A |
T |
7: 55,854,481 (GRCm39) |
D3802V |
possibly damaging |
Het |
Hs3st5 |
A |
G |
10: 36,709,410 (GRCm39) |
E315G |
probably benign |
Het |
Idh3b |
A |
T |
2: 130,125,974 (GRCm39) |
|
probably null |
Het |
Lama4 |
G |
A |
10: 38,949,639 (GRCm39) |
E911K |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,404,800 (GRCm39) |
I436T |
probably damaging |
Het |
Mgam |
C |
A |
6: 40,736,714 (GRCm39) |
S871* |
probably null |
Het |
Mtmr7 |
A |
G |
8: 41,013,923 (GRCm39) |
S212P |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,761,336 (GRCm39) |
T480A |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,287,437 (GRCm39) |
N191I |
probably damaging |
Het |
Nanog |
C |
T |
6: 122,688,734 (GRCm39) |
S105F |
probably damaging |
Het |
Nanos2 |
A |
G |
7: 18,721,564 (GRCm39) |
Y12C |
probably damaging |
Het |
Nsg1 |
C |
T |
5: 38,312,987 (GRCm39) |
V71I |
probably benign |
Het |
Or10g3 |
A |
T |
14: 52,610,408 (GRCm39) |
I34N |
probably damaging |
Het |
Or13a1 |
T |
C |
6: 116,471,386 (GRCm39) |
L272S |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or51a42 |
A |
T |
7: 103,707,930 (GRCm39) |
I293N |
probably damaging |
Het |
Or5b105 |
G |
T |
19: 13,080,568 (GRCm39) |
Y33* |
probably null |
Het |
Pcdhb17 |
A |
G |
18: 37,619,701 (GRCm39) |
Q497R |
probably benign |
Het |
Pcsk7 |
C |
A |
9: 45,837,284 (GRCm39) |
P536Q |
probably damaging |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Phyhip |
A |
G |
14: 70,704,731 (GRCm39) |
K317E |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,604,782 (GRCm39) |
G1178R |
probably damaging |
Het |
Ppp1r9a |
G |
A |
6: 5,057,557 (GRCm39) |
G544D |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
Ptprn2 |
A |
T |
12: 117,217,235 (GRCm39) |
K918N |
probably damaging |
Het |
Rab42 |
T |
C |
4: 132,029,658 (GRCm39) |
D188G |
probably benign |
Het |
Rasgrf2 |
C |
A |
13: 92,131,795 (GRCm39) |
D20Y |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
Sbpl |
T |
C |
17: 24,172,328 (GRCm39) |
K197R |
unknown |
Het |
Slc44a1 |
T |
A |
4: 53,561,069 (GRCm39) |
V595E |
probably damaging |
Het |
Slc6a19 |
A |
G |
13: 73,832,463 (GRCm39) |
M410T |
probably damaging |
Het |
Sntb1 |
A |
T |
15: 55,511,351 (GRCm39) |
L411H |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,073,940 (GRCm39) |
K245E |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,625,543 (GRCm39) |
K1469R |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,757,288 (GRCm39) |
S1078T |
unknown |
Het |
Trmu |
T |
A |
15: 85,781,302 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,721,430 (GRCm39) |
|
probably benign |
Het |
Tyw3 |
T |
C |
3: 154,293,160 (GRCm39) |
T172A |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,217,121 (GRCm39) |
I348T |
possibly damaging |
Het |
Zfp114 |
A |
G |
7: 23,877,194 (GRCm39) |
D12G |
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 |
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 |
|
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'- TGGGCCGGAAACACCCATTCTAAC -3'
(R):5'- ATTGTCCTTGTCCGAAGTTCTCAGC -3'
Sequencing Primer
(F):5'- TCTGGAAGGCTTGCAATCAC -3'
(R):5'- CCGAAGTTCTCAGCATATCATGTAG -3'
|
Posted On |
2014-03-14 |