Incidental Mutation 'R2032:Tmem237'
ID 221318
Institutional Source Beutler Lab
Gene Symbol Tmem237
Ensembl Gene ENSMUSG00000038079
Gene Name transmembrane protein 237
Synonyms Als2cr4, LOC381259
MMRRC Submission 040039-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R2032 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 59139749-59159567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59148265 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 163 (H163Q)
Ref Sequence ENSEMBL: ENSMUSP00000140461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000186395] [ENSMUST00000186794] [ENSMUST00000190014]
AlphaFold Q3V0J1
Predicted Effect probably benign
Transcript: ENSMUST00000087475
AA Change: H160Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: H160Q

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:TMEM237 134 382 4.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094917
AA Change: H170Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: H170Q

DomainStartEndE-ValueType
Pfam:TMEM237 148 391 3.4e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185951
Predicted Effect probably benign
Transcript: ENSMUST00000186395
AA Change: H163Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000186794
AA Change: H184Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: H184Q

DomainStartEndE-ValueType
Pfam:TMEM237 158 406 5.2e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186820
Predicted Effect probably benign
Transcript: ENSMUST00000190014
AA Change: H155Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079
AA Change: H155Q

DomainStartEndE-ValueType
Pfam:TMEM237 129 230 9e-28 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,585,056 (GRCm39) probably benign Het
Abca7 C T 10: 79,844,071 (GRCm39) T1359M probably damaging Het
Acox2 A G 14: 8,246,400 (GRCm38) S464P probably benign Het
Adgrf1 C T 17: 43,622,166 (GRCm39) T801I probably damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Akap12 C A 10: 4,306,673 (GRCm39) A1161D possibly damaging Het
Ankrd36 T A 11: 5,578,616 (GRCm39) V635D possibly damaging Het
Ankrd44 C T 1: 54,762,168 (GRCm39) probably null Het
Atl2 A G 17: 80,203,373 (GRCm39) V28A probably benign Het
Atxn3 A T 12: 101,908,453 (GRCm39) L133* probably null Het
Bmp2 T C 2: 133,403,216 (GRCm39) S256P probably benign Het
Ccdc121rt3 G A 5: 112,502,978 (GRCm39) T242I possibly damaging Het
Ccdc138 T A 10: 58,348,984 (GRCm39) Y177N possibly damaging Het
Ccdc168 C A 1: 44,100,900 (GRCm39) C66F possibly damaging Het
Cdcp3 G A 7: 130,844,781 (GRCm39) G674E probably damaging Het
Cep164 C T 9: 45,682,898 (GRCm39) V931M probably damaging Het
Cfhr4 T A 1: 139,660,993 (GRCm39) probably benign Het
CK137956 T C 4: 127,839,069 (GRCm39) T450A probably benign Het
Col23a1 G A 11: 51,450,835 (GRCm39) G215D unknown Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd6a T C 14: 26,325,904 (GRCm39) M5T probably benign Het
Dnajc6 T G 4: 101,471,435 (GRCm39) I284S probably benign Het
Dolpp1 C T 2: 30,282,453 (GRCm39) A2V probably damaging Het
Eml2 C T 7: 18,936,480 (GRCm39) T711I probably benign Het
Evi5l T C 8: 4,260,622 (GRCm39) D1065G probably damaging Het
Fam110b G T 4: 5,799,460 (GRCm39) A293S probably benign Het
Fap A G 2: 62,372,581 (GRCm39) V266A probably benign Het
Fgf10 A T 13: 118,852,131 (GRCm39) Y71F probably damaging Het
Gm3443 G T 19: 21,533,164 (GRCm39) G43C probably damaging Het
Gpr146 T C 5: 139,364,902 (GRCm39) probably benign Het
Hif3a A T 7: 16,785,104 (GRCm39) L172H probably damaging Het
Mas1 T C 17: 13,061,457 (GRCm39) probably benign Het
Nlrp5 G A 7: 23,120,937 (GRCm39) R717Q probably damaging Het
Nop14 A G 5: 34,817,283 (GRCm39) V36A possibly damaging Het
Or10v5 C T 19: 11,805,664 (GRCm39) C242Y probably damaging Het
Or51a39 A T 7: 102,363,083 (GRCm39) I179N probably benign Het
Or7a41 T A 10: 78,871,163 (GRCm39) F178I possibly damaging Het
Parp4 T A 14: 56,866,553 (GRCm39) I1039K possibly damaging Het
Pate12 T C 9: 36,344,195 (GRCm39) probably null Het
Pold2 A T 11: 5,826,757 (GRCm39) I59N probably benign Het
Prr36 T C 8: 4,264,304 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,716,088 (GRCm39) probably benign Het
Recql C T 6: 142,313,009 (GRCm39) G403R probably damaging Het
Serpina3m T A 12: 104,355,928 (GRCm39) D198E probably benign Het
Sik2 A T 9: 50,906,947 (GRCm39) Y93N probably damaging Het
Slc27a3 C T 3: 90,294,704 (GRCm39) R389H probably damaging Het
Slc29a1 A T 17: 45,897,035 (GRCm39) M417K probably damaging Het
Syt13 A G 2: 92,783,746 (GRCm39) K339E probably damaging Het
Tram2 C T 1: 21,074,180 (GRCm39) G253R probably null Het
Trpv1 A G 11: 73,129,211 (GRCm39) T43A probably benign Het
Ugt2b34 A G 5: 87,039,131 (GRCm39) I510T probably damaging Het
Vmn1r224 C A 17: 20,639,658 (GRCm39) D78E probably benign Het
Vmn1r78 A T 7: 11,887,210 (GRCm39) I274L probably benign Het
Wdfy4 C T 14: 32,868,946 (GRCm39) V361I probably benign Het
Zpbp2 A T 11: 98,445,534 (GRCm39) K165N probably damaging Het
Other mutations in Tmem237
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAACACAGTCACTAATGGGAC -3'
(R):5'- TCTTTCACTCCAAGTTCAGGAC -3'

Sequencing Primer
(F):5'- AGCATAATGACTAGTTTTGTGTGTC -3'
(R):5'- GGACTCTTTCCATTATATTCGTGG -3'
Posted On 2014-08-25