Incidental Mutation 'IGL03156:Tmem237'
ID411282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem237
Ensembl Gene ENSMUSG00000038079
Gene Nametransmembrane protein 237
SynonymsAls2cr4, LOC381259
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL03156
Quality Score
Status
Chromosome1
Chromosomal Location59100590-59120408 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59109127 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017D01Rik A T 19: 11,105,750 I102K possibly damaging Het
4930430A15Rik T C 2: 111,200,412 D12G possibly damaging Het
Abca16 T C 7: 120,423,851 I70T possibly damaging Het
Acot11 A G 4: 106,754,136 Y365H probably damaging Het
Bdp1 A G 13: 100,061,036 V947A probably benign Het
Ccdc159 G T 9: 21,929,475 V113L probably benign Het
Cep350 T C 1: 155,858,042 D3035G probably damaging Het
Clca1 T A 3: 145,013,911 I433F probably damaging Het
Cntn5 T C 9: 9,673,877 Y740C probably damaging Het
Dennd5a C A 7: 109,919,255 probably benign Het
Des G A 1: 75,362,996 E333K probably damaging Het
Dnah7a T C 1: 53,605,824 R1018G probably damaging Het
Eif2b2 G T 12: 85,219,721 A54S probably damaging Het
Gm7276 C T 18: 77,185,603 probably benign Het
Hsbp1l1 A G 18: 80,235,519 probably benign Het
Iars G A 13: 49,703,179 G303S possibly damaging Het
Il18r1 A G 1: 40,498,368 E431G possibly damaging Het
Lrrc14b A G 13: 74,363,904 V19A probably benign Het
Map1lc3a T A 2: 155,277,009 I31N probably damaging Het
Obscn T C 11: 59,054,896 Y4163C probably damaging Het
Olfr478 T A 7: 108,032,351 probably benign Het
Pcsk1 A G 13: 75,131,951 T632A probably benign Het
Ppp1r15a A G 7: 45,525,171 L71P possibly damaging Het
Ptgs2 T G 1: 150,105,477 F504V probably damaging Het
Rimbp2 T G 5: 128,771,757 R908S probably damaging Het
Rnh1 T C 7: 141,163,183 N268S probably damaging Het
Sap30l T C 11: 57,806,168 probably null Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Serpina12 T C 12: 104,037,899 Y158C probably damaging Het
Trmt13 T C 3: 116,585,802 D232G probably benign Het
Zan T A 5: 137,463,939 T993S unknown Het
Zfp236 G A 18: 82,680,702 L85F probably damaging Het
Zfp352 G A 4: 90,224,087 D155N possibly damaging Het
Zfp867 T C 11: 59,465,008 probably benign Het
Zmiz2 T C 11: 6,399,536 F399L probably damaging Het
Other mutations in Tmem237
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Tmem237 APN 1 59107453 critical splice donor site probably null
IGL02184:Tmem237 APN 1 59120111 splice site probably null
R0308:Tmem237 UTSW 1 59107517 missense probably damaging 1.00
R0659:Tmem237 UTSW 1 59114094 missense possibly damaging 0.62
R0981:Tmem237 UTSW 1 59118005 missense probably damaging 1.00
R2032:Tmem237 UTSW 1 59109106 missense probably benign 0.01
R2061:Tmem237 UTSW 1 59120286 unclassified probably benign
R2245:Tmem237 UTSW 1 59108704 missense probably damaging 1.00
R4290:Tmem237 UTSW 1 59119836 unclassified probably benign
R4293:Tmem237 UTSW 1 59119836 unclassified probably benign
R4294:Tmem237 UTSW 1 59119836 unclassified probably benign
R6793:Tmem237 UTSW 1 59114216 missense probably benign 0.01
R7062:Tmem237 UTSW 1 59119612 splice site probably null
R7632:Tmem237 UTSW 1 59116901 missense probably benign 0.00
R8313:Tmem237 UTSW 1 59108078 missense probably damaging 1.00
Z1176:Tmem237 UTSW 1 59115927 missense probably damaging 1.00
Z1176:Tmem237 UTSW 1 59115929 missense possibly damaging 0.77
Posted On2016-08-02