Incidental Mutation 'IGL03156:Tmem237'
ID |
411282 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem237
|
Ensembl Gene |
ENSMUSG00000038079 |
Gene Name |
transmembrane protein 237 |
Synonyms |
Als2cr4, LOC381259 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL03156
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
59139749-59159567 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59148286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 148
(D148E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087475]
[ENSMUST00000094917]
[ENSMUST00000186395]
[ENSMUST00000186794]
[ENSMUST00000190014]
|
AlphaFold |
Q3V0J1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087475
AA Change: D153E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084745 Gene: ENSMUSG00000038079 AA Change: D153E
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
21 |
N/A |
INTRINSIC |
Pfam:TMEM237
|
134 |
382 |
4.4e-95 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094917
AA Change: D163E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092522 Gene: ENSMUSG00000038079 AA Change: D163E
Domain | Start | End | E-Value | Type |
Pfam:TMEM237
|
148 |
391 |
3.4e-101 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185951
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186395
AA Change: D156E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186794
AA Change: D177E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139823 Gene: ENSMUSG00000038079 AA Change: D177E
Domain | Start | End | E-Value | Type |
Pfam:TMEM237
|
158 |
406 |
5.2e-95 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186820
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000190014
AA Change: D148E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140134 Gene: ENSMUSG00000038079 AA Change: D148E
Domain | Start | End | E-Value | Type |
Pfam:TMEM237
|
129 |
230 |
9e-28 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,023,074 (GRCm39) |
I70T |
possibly damaging |
Het |
Acot11 |
A |
G |
4: 106,611,333 (GRCm39) |
Y365H |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,197,544 (GRCm39) |
V947A |
probably benign |
Het |
Ccdc159 |
G |
T |
9: 21,840,771 (GRCm39) |
V113L |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,733,788 (GRCm39) |
D3035G |
probably damaging |
Het |
Clca3a1 |
T |
A |
3: 144,719,672 (GRCm39) |
I433F |
probably damaging |
Het |
Cntn5 |
T |
C |
9: 9,673,882 (GRCm39) |
Y740C |
probably damaging |
Het |
Dennd5a |
C |
A |
7: 109,518,462 (GRCm39) |
|
probably benign |
Het |
Des |
G |
A |
1: 75,339,640 (GRCm39) |
E333K |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,644,983 (GRCm39) |
R1018G |
probably damaging |
Het |
Eif2b2 |
G |
T |
12: 85,266,495 (GRCm39) |
A54S |
probably damaging |
Het |
Gm7276 |
C |
T |
18: 77,273,299 (GRCm39) |
|
probably benign |
Het |
Hsbp1l1 |
A |
G |
18: 80,278,734 (GRCm39) |
|
probably benign |
Het |
Iars1 |
G |
A |
13: 49,856,655 (GRCm39) |
G303S |
possibly damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,528 (GRCm39) |
E431G |
possibly damaging |
Het |
Lrrc14b |
A |
G |
13: 74,512,023 (GRCm39) |
V19A |
probably benign |
Het |
Map1lc3a |
T |
A |
2: 155,118,929 (GRCm39) |
I31N |
probably damaging |
Het |
Ms4a20 |
A |
T |
19: 11,083,114 (GRCm39) |
I102K |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,945,722 (GRCm39) |
Y4163C |
probably damaging |
Het |
Or5p6 |
T |
A |
7: 107,631,558 (GRCm39) |
|
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,070 (GRCm39) |
T632A |
probably benign |
Het |
Potefam1 |
T |
C |
2: 111,030,757 (GRCm39) |
D12G |
possibly damaging |
Het |
Ppp1r15a |
A |
G |
7: 45,174,595 (GRCm39) |
L71P |
possibly damaging |
Het |
Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
Rimbp2 |
T |
G |
5: 128,848,821 (GRCm39) |
R908S |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,743,096 (GRCm39) |
N268S |
probably damaging |
Het |
Sap30l |
T |
C |
11: 57,696,994 (GRCm39) |
|
probably null |
Het |
Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
Serpina12 |
T |
C |
12: 104,004,158 (GRCm39) |
Y158C |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,379,451 (GRCm39) |
D232G |
probably benign |
Het |
Zan |
T |
A |
5: 137,462,201 (GRCm39) |
T993S |
unknown |
Het |
Zfp236 |
G |
A |
18: 82,698,827 (GRCm39) |
L85F |
probably damaging |
Het |
Zfp352 |
G |
A |
4: 90,112,324 (GRCm39) |
D155N |
possibly damaging |
Het |
Zfp867 |
T |
C |
11: 59,355,834 (GRCm39) |
|
probably benign |
Het |
Zmiz2 |
T |
C |
11: 6,349,536 (GRCm39) |
F399L |
probably damaging |
Het |
|
Other mutations in Tmem237 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Tmem237
|
APN |
1 |
59,146,612 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02184:Tmem237
|
APN |
1 |
59,159,270 (GRCm39) |
splice site |
probably null |
|
R0308:Tmem237
|
UTSW |
1 |
59,146,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R0659:Tmem237
|
UTSW |
1 |
59,153,253 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0981:Tmem237
|
UTSW |
1 |
59,157,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R2032:Tmem237
|
UTSW |
1 |
59,148,265 (GRCm39) |
missense |
probably benign |
0.01 |
R2061:Tmem237
|
UTSW |
1 |
59,159,445 (GRCm39) |
unclassified |
probably benign |
|
R2245:Tmem237
|
UTSW |
1 |
59,147,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
R4293:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
R4294:Tmem237
|
UTSW |
1 |
59,158,995 (GRCm39) |
unclassified |
probably benign |
|
R6793:Tmem237
|
UTSW |
1 |
59,153,375 (GRCm39) |
missense |
probably benign |
0.01 |
R7062:Tmem237
|
UTSW |
1 |
59,158,771 (GRCm39) |
splice site |
probably null |
|
R7632:Tmem237
|
UTSW |
1 |
59,156,060 (GRCm39) |
missense |
probably benign |
0.00 |
R8313:Tmem237
|
UTSW |
1 |
59,147,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R8723:Tmem237
|
UTSW |
1 |
59,145,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R8793:Tmem237
|
UTSW |
1 |
59,146,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R8934:Tmem237
|
UTSW |
1 |
59,153,338 (GRCm39) |
missense |
probably benign |
0.36 |
R9427:Tmem237
|
UTSW |
1 |
59,159,213 (GRCm39) |
unclassified |
probably benign |
|
R9529:Tmem237
|
UTSW |
1 |
59,147,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Tmem237
|
UTSW |
1 |
59,159,146 (GRCm39) |
missense |
probably benign |
|
R9797:Tmem237
|
UTSW |
1 |
59,144,735 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tmem237
|
UTSW |
1 |
59,155,088 (GRCm39) |
missense |
possibly damaging |
0.77 |
Z1176:Tmem237
|
UTSW |
1 |
59,155,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |