Incidental Mutation 'R0212:Tmem131l'
| ID |
33522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
038463-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R0212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83820575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1226
(S1226T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052342
AA Change: S1226T
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: S1226T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
Pfam:TMEM131_like
|
91 |
174 |
5.8e-20 |
PFAM |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1221 |
1239 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191758
AA Change: S1227T
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: S1227T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
Pfam:DUF3651
|
155 |
228 |
9.2e-10 |
PFAM |
|
Pfam:DUF3651
|
285 |
362 |
1.5e-9 |
PFAM |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
990 |
997 |
N/A |
INTRINSIC |
|
low complexity region
|
1221 |
1239 |
N/A |
INTRINSIC |
|
low complexity region
|
1291 |
1324 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192095
AA Change: S1226T
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: S1226T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
Pfam:DUF3651
|
155 |
228 |
8.8e-10 |
PFAM |
|
Pfam:DUF3651
|
285 |
362 |
1.4e-9 |
PFAM |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
996 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195245
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
G |
A |
5: 36,006,254 (GRCm39) |
|
probably null |
Het |
| Adat1 |
T |
A |
8: 112,713,840 (GRCm39) |
D113V |
possibly damaging |
Het |
| Arhgap40 |
T |
G |
2: 158,392,495 (GRCm39) |
L656V |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,296,584 (GRCm39) |
I330T |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,235,454 (GRCm39) |
D2137G |
probably damaging |
Het |
| Cd8a |
G |
A |
6: 71,350,633 (GRCm39) |
E33K |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,622,398 (GRCm39) |
G594C |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,894,767 (GRCm39) |
D31V |
probably damaging |
Het |
| Cmpk1 |
A |
T |
4: 114,822,216 (GRCm39) |
M111K |
possibly damaging |
Het |
| Crispld2 |
T |
G |
8: 120,737,370 (GRCm39) |
H40Q |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,069,586 (GRCm39) |
T441A |
probably benign |
Het |
| Dpm1 |
T |
C |
2: 168,069,414 (GRCm39) |
N5S |
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,941,196 (GRCm39) |
|
probably null |
Het |
| Fam83f |
A |
T |
15: 80,574,779 (GRCm39) |
M229L |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,189 (GRCm39) |
D474V |
probably damaging |
Het |
| Fgf21 |
G |
T |
7: 45,263,526 (GRCm39) |
P184Q |
probably benign |
Het |
| Fry |
A |
T |
5: 150,419,862 (GRCm39) |
D1008V |
probably damaging |
Het |
| Gjd2 |
T |
C |
2: 113,841,953 (GRCm39) |
T175A |
probably benign |
Het |
| Gphn |
C |
T |
12: 78,684,326 (GRCm39) |
T577I |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,563,964 (GRCm39) |
N18K |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,797,972 (GRCm39) |
R149G |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,847,506 (GRCm39) |
L330H |
probably benign |
Het |
| Inpp4b |
A |
T |
8: 82,497,546 (GRCm39) |
H122L |
probably benign |
Het |
| Inpp5e |
T |
C |
2: 26,298,352 (GRCm39) |
|
probably null |
Het |
| Ism1 |
T |
C |
2: 139,582,177 (GRCm39) |
L163S |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,653,251 (GRCm39) |
V375E |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,308,293 (GRCm39) |
F306V |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,675,736 (GRCm39) |
I403F |
possibly damaging |
Het |
| Klf12 |
A |
T |
14: 100,260,298 (GRCm39) |
S144T |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,810,570 (GRCm39) |
H747Y |
possibly damaging |
Het |
| Mccc2 |
A |
G |
13: 100,091,163 (GRCm39) |
Y445H |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,980,132 (GRCm39) |
|
probably null |
Het |
| Metap2 |
T |
A |
10: 93,697,242 (GRCm39) |
K479N |
probably damaging |
Het |
| Mief2 |
A |
T |
11: 60,621,493 (GRCm39) |
D62V |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,656,719 (GRCm39) |
D407G |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,296,659 (GRCm39) |
R210G |
probably damaging |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,090 (GRCm39) |
H216R |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,048,277 (GRCm39) |
E694G |
possibly damaging |
Het |
| Nptn |
A |
T |
9: 58,535,164 (GRCm39) |
Y103F |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,670,186 (GRCm39) |
|
probably benign |
Het |
| Numbl |
T |
C |
7: 26,980,184 (GRCm39) |
S389P |
probably damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,236 (GRCm39) |
V277A |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,887,644 (GRCm39) |
V274E |
possibly damaging |
Het |
| Or1q1 |
A |
T |
2: 36,887,335 (GRCm39) |
D171V |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or5d16 |
A |
G |
2: 87,773,435 (GRCm39) |
F179S |
probably damaging |
Het |
| Or5i1 |
C |
T |
2: 87,613,826 (GRCm39) |
P314L |
unknown |
Het |
| Or8g20 |
C |
A |
9: 39,396,384 (GRCm39) |
S55I |
probably damaging |
Het |
| Osm |
T |
G |
11: 4,188,465 (GRCm39) |
S31A |
probably benign |
Het |
| Paqr4 |
T |
C |
17: 23,957,294 (GRCm39) |
M70V |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,302,064 (GRCm39) |
Y1607N |
probably benign |
Het |
| Plec |
A |
C |
15: 76,075,505 (GRCm39) |
Y402* |
probably null |
Het |
| Polq |
A |
G |
16: 36,887,216 (GRCm39) |
K1631E |
probably damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,696 (GRCm39) |
V129A |
possibly damaging |
Het |
| Prm2 |
A |
G |
16: 10,609,463 (GRCm39) |
|
probably benign |
Het |
| Prtn3 |
A |
G |
10: 79,716,971 (GRCm39) |
Y112C |
probably damaging |
Het |
| Qrfp |
T |
A |
2: 31,698,797 (GRCm39) |
H45L |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,428 (GRCm39) |
|
probably null |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Slc10a1 |
A |
C |
12: 81,014,486 (GRCm39) |
L78R |
possibly damaging |
Het |
| Slc26a5 |
A |
T |
5: 22,028,547 (GRCm39) |
Y340* |
probably null |
Het |
| Sptbn2 |
T |
C |
19: 4,796,970 (GRCm39) |
|
probably null |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| Togaram2 |
C |
T |
17: 72,031,978 (GRCm39) |
L866F |
probably damaging |
Het |
| Txndc17 |
A |
G |
11: 72,098,558 (GRCm39) |
T37A |
probably benign |
Het |
| Vmn2r105 |
C |
A |
17: 20,428,827 (GRCm39) |
V750F |
possibly damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,366,424 (GRCm39) |
Y170F |
probably benign |
Het |
| Wrnip1 |
T |
C |
13: 33,005,889 (GRCm39) |
V577A |
probably benign |
Het |
| Zc3h7b |
A |
G |
15: 81,660,529 (GRCm39) |
T226A |
probably benign |
Het |
| Zfp948 |
T |
C |
17: 21,808,422 (GRCm39) |
I538T |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,764,736 (GRCm39) |
E1401G |
possibly damaging |
Het |
|
| Other mutations in Tmem131l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Tmem131l
|
APN |
3 |
83,849,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00777:Tmem131l
|
APN |
3 |
83,806,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Tmem131l
|
APN |
3 |
83,829,429 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01642:Tmem131l
|
APN |
3 |
83,845,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01796:Tmem131l
|
APN |
3 |
83,845,362 (GRCm39) |
nonsense |
probably null |
|
|
IGL02055:Tmem131l
|
APN |
3 |
83,817,673 (GRCm39) |
splice site |
probably null |
|
|
IGL02269:Tmem131l
|
APN |
3 |
83,845,357 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02806:Tmem131l
|
APN |
3 |
83,836,123 (GRCm39) |
splice site |
probably benign |
|
|
IGL03308:Tmem131l
|
APN |
3 |
83,848,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03345:Tmem131l
|
APN |
3 |
83,868,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Tmem131l
|
UTSW |
3 |
83,842,122 (GRCm39) |
splice site |
probably benign |
|
|
R0112:Tmem131l
|
UTSW |
3 |
83,847,894 (GRCm39) |
nonsense |
probably null |
|
|
R0328:Tmem131l
|
UTSW |
3 |
83,829,238 (GRCm39) |
splice site |
probably benign |
|
|
R0412:Tmem131l
|
UTSW |
3 |
83,938,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Tmem131l
|
UTSW |
3 |
83,805,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0676:Tmem131l
|
UTSW |
3 |
83,842,122 (GRCm39) |
splice site |
probably benign |
|
|
R0815:Tmem131l
|
UTSW |
3 |
83,847,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0826:Tmem131l
|
UTSW |
3 |
83,805,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Tmem131l
|
UTSW |
3 |
83,836,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1582:Tmem131l
|
UTSW |
3 |
83,839,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1591:Tmem131l
|
UTSW |
3 |
83,848,196 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1804:Tmem131l
|
UTSW |
3 |
83,817,786 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1875:Tmem131l
|
UTSW |
3 |
83,812,383 (GRCm39) |
nonsense |
probably null |
|
|
R1955:Tmem131l
|
UTSW |
3 |
83,868,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Tmem131l
|
UTSW |
3 |
83,850,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Tmem131l
|
UTSW |
3 |
83,850,058 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2173:Tmem131l
|
UTSW |
3 |
83,833,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2321:Tmem131l
|
UTSW |
3 |
83,843,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2407:Tmem131l
|
UTSW |
3 |
83,829,355 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2917:Tmem131l
|
UTSW |
3 |
83,844,887 (GRCm39) |
nonsense |
probably null |
|
|
R3082:Tmem131l
|
UTSW |
3 |
83,816,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3086:Tmem131l
|
UTSW |
3 |
83,839,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3773:Tmem131l
|
UTSW |
3 |
83,805,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3921:Tmem131l
|
UTSW |
3 |
83,847,908 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3953:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3954:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Tmem131l
|
UTSW |
3 |
83,817,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4118:Tmem131l
|
UTSW |
3 |
83,868,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4700:Tmem131l
|
UTSW |
3 |
83,806,519 (GRCm39) |
missense |
probably benign |
|
|
R4862:Tmem131l
|
UTSW |
3 |
83,805,517 (GRCm39) |
splice site |
probably benign |
|
|
R4941:Tmem131l
|
UTSW |
3 |
83,806,546 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5101:Tmem131l
|
UTSW |
3 |
83,844,811 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5290:Tmem131l
|
UTSW |
3 |
83,806,572 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5501:Tmem131l
|
UTSW |
3 |
83,833,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Tmem131l
|
UTSW |
3 |
83,847,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5845:Tmem131l
|
UTSW |
3 |
83,847,860 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5973:Tmem131l
|
UTSW |
3 |
83,829,553 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6119:Tmem131l
|
UTSW |
3 |
83,805,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6241:Tmem131l
|
UTSW |
3 |
83,829,471 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6278:Tmem131l
|
UTSW |
3 |
83,849,798 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6490:Tmem131l
|
UTSW |
3 |
83,820,587 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6502:Tmem131l
|
UTSW |
3 |
83,829,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6503:Tmem131l
|
UTSW |
3 |
83,848,251 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6868:Tmem131l
|
UTSW |
3 |
83,868,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7104:Tmem131l
|
UTSW |
3 |
83,826,766 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7736:Tmem131l
|
UTSW |
3 |
83,847,875 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7885:Tmem131l
|
UTSW |
3 |
83,817,724 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8085:Tmem131l
|
UTSW |
3 |
83,834,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8164:Tmem131l
|
UTSW |
3 |
83,833,495 (GRCm39) |
nonsense |
probably null |
|
|
R8478:Tmem131l
|
UTSW |
3 |
83,805,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8677:Tmem131l
|
UTSW |
3 |
83,836,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Tmem131l
|
UTSW |
3 |
83,805,793 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8943:Tmem131l
|
UTSW |
3 |
83,831,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Tmem131l
|
UTSW |
3 |
83,836,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9068:Tmem131l
|
UTSW |
3 |
83,817,775 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9096:Tmem131l
|
UTSW |
3 |
83,850,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Tmem131l
|
UTSW |
3 |
83,850,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Tmem131l
|
UTSW |
3 |
83,842,220 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9273:Tmem131l
|
UTSW |
3 |
83,848,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Tmem131l
|
UTSW |
3 |
83,817,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9400:Tmem131l
|
UTSW |
3 |
83,830,293 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9433:Tmem131l
|
UTSW |
3 |
83,845,459 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9574:Tmem131l
|
UTSW |
3 |
83,868,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9647:Tmem131l
|
UTSW |
3 |
83,836,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9750:Tmem131l
|
UTSW |
3 |
83,831,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Tmem131l
|
UTSW |
3 |
83,829,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Tmem131l
|
UTSW |
3 |
83,947,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCAGGGTTTCTAAGGCACAG -3'
(R):5'- GTTGGTCCTCCAGAGTTAAAGGCAG -3'
Sequencing Primer
(F):5'- agccatctctccagccc -3'
(R):5'- AAGGCAGTCATGAGTTTCTCTTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation