Incidental Mutation 'R2173:Tmem131l'
| ID |
237604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem131l
|
| Ensembl Gene |
ENSMUSG00000033767 |
| Gene Name |
transmembrane 131 like |
| Synonyms |
D930015E06Rik |
| MMRRC Submission |
040175-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R2173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
83804962-83947482 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83833452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 804
(F804L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052342]
[ENSMUST00000191758]
[ENSMUST00000192095]
|
| AlphaFold |
Q3U3D7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052342
AA Change: F804L
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000049808
Gene: ENSMUSG00000033767
AA Change: F804L
| 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 damaging
Transcript: ENSMUST00000191758
AA Change: F804L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141438
Gene: ENSMUSG00000033767
AA Change: F804L
| 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 damaging
Transcript: ENSMUST00000192095
AA Change: F804L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141607
Gene: ENSMUSG00000033767
AA Change: F804L
| 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: ENSMUST00000194432
|
| Meta Mutation Damage Score |
0.7297 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
97% (66/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
T |
A |
3: 127,477,239 (GRCm39) |
H273L |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,726,648 (GRCm39) |
Y111C |
probably damaging |
Het |
| Anapc2 |
T |
G |
2: 25,163,288 (GRCm39) |
V175G |
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,235,335 (GRCm39) |
S570P |
probably damaging |
Het |
| AU040320 |
T |
C |
4: 126,686,069 (GRCm39) |
L215P |
probably benign |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Ccdc65 |
A |
G |
15: 98,618,914 (GRCm39) |
N298D |
probably benign |
Het |
| Cfap70 |
T |
A |
14: 20,458,630 (GRCm39) |
N727Y |
probably benign |
Het |
| Clcn7 |
A |
G |
17: 25,364,583 (GRCm39) |
H63R |
probably benign |
Het |
| Corin |
A |
T |
5: 72,661,422 (GRCm39) |
C24S |
probably benign |
Het |
| Cyp1a2 |
A |
G |
9: 57,584,798 (GRCm39) |
W419R |
probably damaging |
Het |
| Dlgap4 |
C |
A |
2: 156,604,732 (GRCm39) |
A256D |
probably damaging |
Het |
| Eif4enif1 |
A |
G |
11: 3,192,367 (GRCm39) |
|
probably null |
Het |
| Eri2 |
A |
G |
7: 119,385,766 (GRCm39) |
V245A |
possibly damaging |
Het |
| Erich6b |
T |
C |
14: 75,896,332 (GRCm39) |
F73L |
probably benign |
Het |
| Fam110a |
A |
G |
2: 151,812,429 (GRCm39) |
C114R |
probably damaging |
Het |
| Fam149a |
T |
C |
8: 45,806,991 (GRCm39) |
D288G |
probably damaging |
Het |
| Fam171a1 |
T |
A |
2: 3,226,656 (GRCm39) |
Y596* |
probably null |
Het |
| Fsd1 |
A |
G |
17: 56,298,223 (GRCm39) |
T183A |
possibly damaging |
Het |
| Fut10 |
T |
A |
8: 31,726,159 (GRCm39) |
Y305N |
probably damaging |
Het |
| Ganab |
A |
T |
19: 8,879,624 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
G |
T |
14: 101,967,012 (GRCm39) |
|
probably benign |
Het |
| Gp9 |
A |
G |
6: 87,756,035 (GRCm39) |
T17A |
probably benign |
Het |
| Gxylt2 |
T |
C |
6: 100,775,115 (GRCm39) |
Y345H |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,835,699 (GRCm39) |
H3269R |
probably benign |
Het |
| Hpx |
A |
T |
7: 105,241,290 (GRCm39) |
S374T |
probably benign |
Het |
| Hspa5 |
T |
C |
2: 34,664,674 (GRCm39) |
V376A |
probably damaging |
Het |
| Hyi |
T |
C |
4: 118,219,381 (GRCm39) |
|
probably benign |
Het |
| Impdh2 |
G |
A |
9: 108,442,593 (GRCm39) |
|
probably null |
Het |
| Kremen2 |
A |
C |
17: 23,961,770 (GRCm39) |
W246G |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,818 (GRCm39) |
V259A |
probably damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,894,188 (GRCm39) |
H398L |
probably damaging |
Het |
| Lama5 |
C |
A |
2: 179,838,035 (GRCm39) |
V894L |
probably benign |
Het |
| Maml2 |
A |
G |
9: 13,532,912 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,855,076 (GRCm39) |
|
probably benign |
Het |
| Or10g6 |
T |
G |
9: 39,934,550 (GRCm39) |
I287S |
probably damaging |
Het |
| Or2y15 |
G |
T |
11: 49,350,967 (GRCm39) |
V154L |
probably benign |
Het |
| Or5k14 |
A |
G |
16: 58,692,982 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,240 (GRCm39) |
I180V |
probably benign |
Het |
| Or9r7 |
G |
A |
10: 129,962,372 (GRCm39) |
P185S |
probably benign |
Het |
| Otof |
C |
T |
5: 30,543,718 (GRCm39) |
R582H |
probably damaging |
Het |
| Otud4 |
T |
C |
8: 80,395,093 (GRCm39) |
S543P |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,387,453 (GRCm39) |
D448G |
probably damaging |
Het |
| Phgdh |
A |
G |
3: 98,222,427 (GRCm39) |
V388A |
probably benign |
Het |
| Plin3 |
G |
T |
17: 56,586,891 (GRCm39) |
D385E |
possibly damaging |
Het |
| Polg |
G |
T |
7: 79,105,341 (GRCm39) |
D734E |
probably damaging |
Het |
| Pomt1 |
T |
C |
2: 32,140,912 (GRCm39) |
Y515H |
probably damaging |
Het |
| Prr35 |
A |
C |
17: 26,167,461 (GRCm39) |
H25Q |
probably damaging |
Het |
| Pwwp2a |
G |
A |
11: 43,573,313 (GRCm39) |
A132T |
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,729,390 (GRCm39) |
F419L |
possibly damaging |
Het |
| Rfx5 |
A |
G |
3: 94,864,027 (GRCm39) |
|
probably null |
Het |
| Rnf135 |
G |
A |
11: 80,080,066 (GRCm39) |
S119N |
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,433,862 (GRCm39) |
D51E |
probably benign |
Het |
| Smox |
A |
T |
2: 131,353,944 (GRCm39) |
E5D |
possibly damaging |
Het |
| Srpk2 |
T |
C |
5: 23,723,613 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,147,763 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,738,893 (GRCm39) |
S853P |
possibly damaging |
Het |
| Ttll8 |
A |
G |
15: 88,798,800 (GRCm39) |
L645P |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,727,743 (GRCm39) |
H35Q |
probably benign |
Het |
| Uck1 |
GCCAACACC |
GCC |
2: 32,146,088 (GRCm39) |
|
probably benign |
Het |
| Vmn2r70 |
A |
T |
7: 85,214,290 (GRCm39) |
H287Q |
probably benign |
Het |
| Vps26a |
A |
T |
10: 62,304,171 (GRCm39) |
I150N |
probably damaging |
Het |
| Zfp605 |
G |
A |
5: 110,275,323 (GRCm39) |
R147H |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,631,596 (GRCm39) |
M1333T |
probably 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 |
|
|
R0212:Tmem131l
|
UTSW |
3 |
83,820,575 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
|
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'- TGGAGGCTGAGGAGACAATACT -3'
(R):5'- CAGCTTTTCACACTTTTGTAATGTTT -3'
Sequencing Primer
(F):5'- AGTTCCGGTGAATCAGATACC -3'
(R):5'- CTTCTTCCTCACTAGAACTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation