Incidental Mutation 'R8770:Tmem131'
| ID |
690344 |
| 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 |
068625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
R8770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
36831270-36978714 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 36838186 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,104,199 (GRCm39) |
|
probably null |
Het |
| Aox1 |
A |
T |
1: 58,378,763 (GRCm39) |
K1004M |
probably benign |
Het |
| Atn1 |
C |
T |
6: 124,722,601 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
T |
C |
2: 126,184,915 (GRCm39) |
Y916C |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,420,448 (GRCm39) |
L766S |
probably damaging |
Het |
| Bmpr2 |
T |
G |
1: 59,884,684 (GRCm39) |
D223E |
probably benign |
Het |
| Bpifc |
T |
G |
10: 85,801,129 (GRCm39) |
R406S |
probably damaging |
Het |
| Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,006,926 (GRCm39) |
I607N |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,321,822 (GRCm39) |
Y235C |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,363,117 (GRCm39) |
Q163R |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,254,277 (GRCm39) |
M222L |
possibly damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,208 (GRCm39) |
V358A |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,420,945 (GRCm39) |
R492W |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,311,298 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,410 (GRCm39) |
I1880V |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,752,298 (GRCm39) |
T793A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,456,106 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 125,996,727 (GRCm39) |
T71A |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,274,938 (GRCm39) |
M19K |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,209,285 (GRCm39) |
F382L |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,046,596 (GRCm39) |
C455S |
probably benign |
Het |
| Fcmr |
T |
A |
1: 130,803,799 (GRCm39) |
V201E |
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gpr156 |
A |
G |
16: 37,824,974 (GRCm39) |
E397G |
possibly damaging |
Het |
| Gzmf |
A |
T |
14: 56,443,951 (GRCm39) |
V73D |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,145,976 (GRCm39) |
N84S |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,258,843 (GRCm39) |
V39A |
possibly damaging |
Het |
| Mlf2 |
C |
A |
6: 124,911,259 (GRCm39) |
H91Q |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,091,460 (GRCm39) |
E115V |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,171,481 (GRCm39) |
E494G |
unknown |
Het |
| Myo7b |
C |
T |
18: 32,114,124 (GRCm39) |
D1076N |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,887 (GRCm39) |
D53G |
probably damaging |
Het |
| Noc4l |
A |
G |
5: 110,796,758 (GRCm39) |
L508P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,025,850 (GRCm39) |
F157L |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,336 (GRCm39) |
Y959H |
probably damaging |
Het |
| Or13c7d |
T |
G |
4: 43,770,813 (GRCm39) |
N66T |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,171 (GRCm39) |
M96T |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,316,599 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Plb1 |
T |
C |
5: 32,404,853 (GRCm39) |
Y4H |
unknown |
Het |
| Rad21 |
A |
G |
15: 51,831,749 (GRCm39) |
I444T |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,943 (GRCm39) |
I459V |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,656,129 (GRCm39) |
T917A |
unknown |
Het |
| Sdc4 |
C |
T |
2: 164,270,822 (GRCm39) |
V146I |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,198 (GRCm39) |
S184G |
probably benign |
Het |
| Shkbp1 |
C |
A |
7: 27,051,311 (GRCm39) |
R218S |
possibly damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,039,607 (GRCm39) |
D255G |
|
Het |
| Slc7a2 |
T |
G |
8: 41,352,267 (GRCm39) |
V110G |
probably damaging |
Het |
| Slf1 |
A |
C |
13: 77,194,766 (GRCm39) |
V853G |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,029,718 (GRCm39) |
V102A |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,036,788 (GRCm39) |
K50R |
probably damaging |
Het |
| Spink10 |
A |
T |
18: 62,786,532 (GRCm39) |
R47S |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,451,206 (GRCm39) |
F2720Y |
probably null |
Het |
| Tdrkh |
T |
A |
3: 94,336,440 (GRCm39) |
V459D |
probably damaging |
Het |
| Tent5a |
A |
G |
9: 85,208,803 (GRCm39) |
Y7H |
probably benign |
Het |
| Tlcd2 |
T |
A |
11: 75,360,630 (GRCm39) |
D224E |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,230,304 (GRCm39) |
Q87L |
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,789,961 (GRCm39) |
G378R |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,892 (GRCm39) |
Q2210K |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,934,435 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,050,675 (GRCm39) |
I238N |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,153,548 (GRCm39) |
D675E |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,795 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,417 (GRCm39) |
H656R |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,980 (GRCm39) |
Y323C |
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 |
|
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'- ACTTACAGCTGCTGGGCTTG -3'
(R):5'- AGATTCCTCTTCCAACTACACTAGC -3'
Sequencing Primer
(F):5'- CTGGGCTTGTGAACTGGCAC -3'
(R):5'- TAGCAAGTGGATCCAAATCACG -3'
|
| Posted On |
2021-12-15 |
Incidental Mutation