Incidental Mutation 'IGL01020:Tmem237'
ID 53408
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) question?
Stock # IGL01020
Quality Score
Status
Chromosome 1
Chromosomal Location 59139749-59159567 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 59146612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000186395] [ENSMUST00000186794] [ENSMUST00000190014]
AlphaFold Q3V0J1
Predicted Effect probably null
Transcript: ENSMUST00000087475
SMART Domains Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:TMEM237 134 382 4.4e-95 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000094917
SMART Domains Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 148 391 3.4e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185951
Predicted Effect probably benign
Transcript: ENSMUST00000186395
Predicted Effect probably null
Transcript: ENSMUST00000186794
SMART Domains Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 158 406 5.2e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186820
Predicted Effect probably benign
Transcript: ENSMUST00000190014
SMART Domains Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 T G 1: 176,958,533 (GRCm39) probably benign Het
Aldh18a1 C T 19: 40,557,625 (GRCm39) probably benign Het
Arhgap32 A G 9: 32,168,657 (GRCm39) H880R probably benign Het
Arhgef7 G A 8: 11,832,540 (GRCm39) S5N probably damaging Het
Atp6v1e1 T C 6: 120,785,372 (GRCm39) M40V possibly damaging Het
Atr T C 9: 95,744,836 (GRCm39) V51A probably damaging Het
Atxn10 A G 15: 85,259,623 (GRCm39) probably null Het
Btbd16 T A 7: 130,426,091 (GRCm39) I502N probably damaging Het
Celsr2 G T 3: 108,310,586 (GRCm39) L1499M probably damaging Het
Cfl1 C T 19: 5,543,709 (GRCm39) probably benign Het
Cul9 T C 17: 46,849,949 (GRCm39) E500G probably damaging Het
Dusp3 G T 11: 101,875,470 (GRCm39) N31K probably benign Het
Erbb4 A T 1: 68,337,608 (GRCm39) probably benign Het
Fam234b G A 6: 135,188,904 (GRCm39) V170M probably benign Het
Fign A G 2: 63,809,354 (GRCm39) S639P probably damaging Het
Gbp7 A G 3: 142,248,618 (GRCm39) T294A probably benign Het
Golm2 G A 2: 121,756,203 (GRCm39) V411I probably benign Het
Ift80 C T 3: 68,871,012 (GRCm39) D195N probably damaging Het
Kif21b G T 1: 136,081,832 (GRCm39) probably benign Het
Kif2c A T 4: 117,024,101 (GRCm39) F397I probably damaging Het
Lamc3 T C 2: 31,804,668 (GRCm39) V567A probably benign Het
Letmd1 T C 15: 100,369,640 (GRCm39) M36T probably damaging Het
Lrp1b A G 2: 40,888,259 (GRCm39) W2220R probably damaging Het
Mical2 T A 7: 111,914,283 (GRCm39) probably benign Het
Mtif2 A G 11: 29,494,973 (GRCm39) D691G possibly damaging Het
Myh8 G A 11: 67,174,229 (GRCm39) V189M probably damaging Het
Myo9b G A 8: 71,804,644 (GRCm39) R1418K probably benign Het
Nkpd1 G A 7: 19,252,674 (GRCm39) V7M possibly damaging Het
Nrxn2 G A 19: 6,543,473 (GRCm39) V1116I probably benign Het
Nynrin A G 14: 56,105,905 (GRCm39) M875V probably benign Het
Oat T C 7: 132,168,902 (GRCm39) probably null Het
Or7g35 G A 9: 19,496,616 (GRCm39) S261N possibly damaging Het
Or8g24 A C 9: 38,989,747 (GRCm39) I98R probably damaging Het
Prkaa2 C T 4: 104,932,659 (GRCm39) R63Q probably damaging Het
Psg29 T A 7: 16,942,657 (GRCm39) S219R probably benign Het
Ptprc T C 1: 138,047,911 (GRCm39) probably null Het
Pwwp2b G T 7: 138,834,771 (GRCm39) E71* probably null Het
Robo2 T C 16: 73,725,039 (GRCm39) T1055A probably benign Het
Serpina9 T A 12: 103,974,845 (GRCm39) N103Y probably damaging Het
Sis T C 3: 72,874,171 (GRCm39) E10G probably damaging Het
Tbck C T 3: 132,432,903 (GRCm39) Q438* probably null Het
Thnsl1 T C 2: 21,217,305 (GRCm39) L353S probably damaging Het
Tuba3a C T 6: 125,258,303 (GRCm39) R229H probably damaging Het
Zbtb2 A G 10: 4,319,702 (GRCm39) I108T probably benign Het
Zfp345 T C 2: 150,314,967 (GRCm39) N190S possibly damaging Het
Other mutations in Tmem237
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02184:Tmem237 APN 1 59,159,270 (GRCm39) splice site probably null
IGL03156:Tmem237 APN 1 59,148,286 (GRCm39) missense probably damaging 1.00
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 2013-06-28