Incidental Mutation 'R9156:Tmem131'
| ID |
695348 |
| 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 |
068974-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
R9156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36831270-36978714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36880767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 168
(S168T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027290]
[ENSMUST00000185964]
[ENSMUST00000194563]
|
| AlphaFold |
O70472 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027290
AA Change: S168T
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000027290
Gene: ENSMUSG00000026116
AA Change: S168T
| 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 |
possibly damaging
Transcript: ENSMUST00000185964
AA Change: S57T
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194563
AA Change: S168T
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142307
Gene: ENSMUSG00000026116
AA Change: S168T
| 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 |
0.2141 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,647,957 (GRCm39) |
L1150V |
probably damaging |
Het |
| AB124611 |
A |
G |
9: 21,455,989 (GRCm39) |
D194G |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,669,302 (GRCm39) |
L2418P |
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,090,152 (GRCm39) |
S213P |
probably damaging |
Het |
| Apobec2 |
A |
T |
17: 48,739,531 (GRCm39) |
L36H |
|
Het |
| Arrb1 |
A |
G |
7: 99,237,280 (GRCm39) |
D78G |
|
Het |
| Astn1 |
A |
G |
1: 158,338,555 (GRCm39) |
Q434R |
probably damaging |
Het |
| Cadps |
C |
G |
14: 12,705,676 (GRCm38) |
D240H |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,085 (GRCm39) |
I680T |
probably damaging |
Het |
| Cmya5 |
A |
C |
13: 93,233,878 (GRCm39) |
D403E |
unknown |
Het |
| Crxos |
A |
C |
7: 15,631,436 (GRCm39) |
I45L |
probably benign |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,313,687 (GRCm39) |
I4204T |
|
Het |
| Ei24 |
A |
G |
9: 36,697,327 (GRCm39) |
S134P |
probably damaging |
Het |
| Eif2ak3 |
G |
T |
6: 70,860,614 (GRCm39) |
V397F |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,672,969 (GRCm39) |
I134V |
|
Het |
| Fam186a |
A |
G |
15: 99,841,159 (GRCm39) |
I1695T |
possibly damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,939 (GRCm39) |
M210V |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,299 (GRCm39) |
S1080P |
probably benign |
Het |
| Gtf3c1 |
A |
G |
7: 125,244,949 (GRCm39) |
L1695P |
possibly damaging |
Het |
| Haus3 |
A |
G |
5: 34,324,994 (GRCm39) |
F222L |
probably damaging |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,825 (GRCm39) |
Q445* |
probably null |
Het |
| Kcnc3 |
A |
G |
7: 44,240,592 (GRCm39) |
N95D |
probably damaging |
Het |
| Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
| Lgi1 |
A |
G |
19: 38,289,746 (GRCm39) |
T271A |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,665,463 (GRCm39) |
T551A |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Mug1 |
C |
A |
6: 121,851,390 (GRCm39) |
D762E |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,266,605 (GRCm39) |
N615I |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,145,827 (GRCm39) |
M1T |
probably null |
Het |
| Or51f23 |
T |
C |
7: 102,453,339 (GRCm39) |
L218P |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,803,104 (GRCm39) |
E387G |
possibly damaging |
Het |
| Pld5 |
A |
G |
1: 175,902,003 (GRCm39) |
V195A |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,980,349 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,940,227 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,331,574 (GRCm39) |
E2262G |
|
Het |
| Rp1 |
C |
A |
1: 4,234,161 (GRCm39) |
V910L |
unknown |
Het |
| Rpp21 |
A |
T |
17: 36,568,407 (GRCm39) |
C23S |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,588,989 (GRCm39) |
M1306V |
possibly damaging |
Het |
| Scn2b |
C |
T |
9: 45,036,734 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,363 (GRCm39) |
D97G |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,001,548 (GRCm39) |
V112A |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,864,492 (GRCm39) |
K363* |
probably null |
Het |
| Smg1 |
G |
T |
7: 117,753,884 (GRCm39) |
T2563K |
unknown |
Het |
| Snap47 |
A |
T |
11: 59,319,290 (GRCm39) |
S283T |
probably damaging |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
G |
T |
1: 52,178,388 (GRCm39) |
R274L |
probably damaging |
Het |
| Stoml1 |
A |
G |
9: 58,164,409 (GRCm39) |
T166A |
|
Het |
| Svs5 |
G |
T |
2: 164,079,509 (GRCm39) |
Q133K |
probably benign |
Het |
| Tas2r107 |
T |
A |
6: 131,636,422 (GRCm39) |
H209L |
probably benign |
Het |
| Tmco3 |
T |
A |
8: 13,360,228 (GRCm39) |
V477D |
possibly damaging |
Het |
| Tmem41a |
T |
C |
16: 21,755,859 (GRCm39) |
N149S |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,719,225 (GRCm39) |
F359L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,785,162 (GRCm39) |
M784L |
unknown |
Het |
| Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
| Ubxn2b |
C |
T |
4: 6,214,646 (GRCm39) |
P227S |
probably damaging |
Het |
| Upb1 |
C |
T |
10: 75,265,961 (GRCm39) |
L263F |
probably benign |
Het |
| Usp15 |
T |
A |
10: 122,949,553 (GRCm39) |
T935S |
probably benign |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,164 (GRCm39) |
C400Y |
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 |
|
|
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 |
|
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'- GTGCCCTAAACCTAATGTCCTG -3'
(R):5'- GTACAACAGTGTGGCTAACTTG -3'
Sequencing Primer
(F):5'- GCCCTAAACCTAATGTCCTGTATTTC -3'
(R):5'- ACAGTGTGGCTAACTTGAAGGTTAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation