Incidental Mutation 'R4294:Tmem237'
ID 323198
Institutional Source Beutler Lab
Gene Symbol Tmem237
Ensembl Gene ENSMUSG00000038079
Gene Name transmembrane protein 237
Synonyms Als2cr4, LOC381259
MMRRC Submission 041083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4294 (G1)
Quality Score 222
Status Validated
Chromosome 1
Chromosomal Location 59139749-59159567 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 59158995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066374] [ENSMUST00000078874] [ENSMUST00000087475] [ENSMUST00000094917] [ENSMUST00000114275] [ENSMUST00000186794] [ENSMUST00000186477] [ENSMUST00000190014] [ENSMUST00000191200] [ENSMUST00000186395]
AlphaFold Q3V0J1
Predicted Effect probably benign
Transcript: ENSMUST00000066374
SMART Domains Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550

DomainStartEndE-ValueType
L27 27 82 4.02e-9 SMART
L27 86 139 2.49e-14 SMART
PDZ 161 234 3.57e-11 SMART
SH3 244 310 2.94e-5 SMART
low complexity region 397 406 N/A INTRINSIC
GuKc 425 618 1.21e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078874
SMART Domains Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550

DomainStartEndE-ValueType
L27 27 82 4.02e-9 SMART
L27 86 139 2.49e-14 SMART
PDZ 161 234 3.57e-11 SMART
SH3 244 310 2.94e-5 SMART
low complexity region 348 362 N/A INTRINSIC
low complexity region 397 406 N/A INTRINSIC
GuKc 425 618 1.21e-50 SMART
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000094917
SMART Domains Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 148 391 3.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114275
SMART Domains Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550

DomainStartEndE-ValueType
L27 46 101 4.02e-9 SMART
L27 105 158 2.49e-14 SMART
PDZ 180 253 3.57e-11 SMART
SH3 263 329 2.94e-5 SMART
low complexity region 367 381 N/A INTRINSIC
low complexity region 416 425 N/A INTRINSIC
GuKc 444 637 1.21e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180570
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188494
Predicted Effect probably benign
Transcript: ENSMUST00000186794
SMART Domains Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 158 406 5.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186477
SMART Domains Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550

DomainStartEndE-ValueType
L27 27 82 1.3e-11 SMART
L27 86 139 8.6e-17 SMART
PDZ 161 234 1.8e-13 SMART
SH3 222 297 5.1e-4 SMART
low complexity region 353 362 N/A INTRINSIC
GuKc 381 574 5.8e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190014
SMART Domains Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079

DomainStartEndE-ValueType
Pfam:TMEM237 129 230 9e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191200
SMART Domains Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550

DomainStartEndE-ValueType
L27 27 82 4.02e-9 SMART
L27 86 139 2.49e-14 SMART
PDZ 161 234 3.57e-11 SMART
SH3 244 310 2.94e-5 SMART
low complexity region 342 356 N/A INTRINSIC
low complexity region 391 400 N/A INTRINSIC
GuKc 419 612 1.21e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186395
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (44/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik A T 19: 21,576,113 (GRCm39) probably null Het
Abca3 A G 17: 24,619,543 (GRCm39) I960M possibly damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bsnd C T 4: 106,342,355 (GRCm39) R271H probably benign Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Clip2 A C 5: 134,521,167 (GRCm39) V957G probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dlc1 A G 8: 37,051,907 (GRCm39) V608A possibly damaging Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Dock3 T A 9: 106,807,242 (GRCm39) R1362W probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gimap8 A T 6: 48,635,891 (GRCm39) H552L probably benign Het
Gpr151 T C 18: 42,711,602 (GRCm39) T359A probably benign Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Magel2 T G 7: 62,028,515 (GRCm39) V473G possibly damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Nat8f1 T C 6: 85,887,637 (GRCm39) T108A probably benign Het
Nphp3 T A 9: 103,899,916 (GRCm39) L502Q probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Otud7a A G 7: 63,346,939 (GRCm39) D171G probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Rpl27-ps3 T A 18: 6,332,607 (GRCm39) probably null Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgsm1 A G 5: 113,433,270 (GRCm39) Y182H probably damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Thrb C T 14: 18,011,145 (GRCm38) Q174* probably null Het
Ticam1 A G 17: 56,578,339 (GRCm39) I252T probably benign Het
Trpv1 C T 11: 73,131,290 (GRCm39) A276V probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r74 T A 7: 85,606,624 (GRCm39) I241F probably benign 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
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
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'- GGCGGAGACTAAATTCCCAAC -3'
(R):5'- TCGGTCAGAGAGGAGGATGTTC -3'

Sequencing Primer
(F):5'- CAGCTCAAAAGTACCTGAGGCTC -3'
(R):5'- TTGAATACGAGTCTGGTCCCGC -3'
Posted On 2015-06-20