Incidental Mutation 'R0659:Tmem237'
ID 61771
Institutional Source Beutler Lab
Gene Symbol Tmem237
Ensembl Gene ENSMUSG00000038079
Gene Name transmembrane protein 237
Synonyms Als2cr4, LOC381259
MMRRC Submission 038844-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0659 (G1)
Quality Score 112
Status Validated
Chromosome 1
Chromosomal Location 59139749-59159567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59153253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 89 (I89M)
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: I86M

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: I86M

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Pfam:TMEM237 134 382 4.4e-95 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000094917
AA Change: I96M

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: I96M

DomainStartEndE-ValueType
Pfam:TMEM237 148 391 3.4e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185951
Predicted Effect possibly damaging
Transcript: ENSMUST00000186395
AA Change: I89M

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000186794
AA Change: I110M

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: I110M

DomainStartEndE-ValueType
Pfam:TMEM237 158 406 5.2e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186820
Predicted Effect possibly damaging
Transcript: ENSMUST00000190014
AA Change: I81M

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079
AA Change: I81M

DomainStartEndE-ValueType
Pfam:TMEM237 129 230 9e-28 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,140,565 (GRCm39) probably benign Het
Ahnak A G 19: 8,992,366 (GRCm39) H4550R possibly damaging Het
Anxa6 A G 11: 54,874,173 (GRCm39) V591A probably damaging Het
Apol7c A G 15: 77,410,473 (GRCm39) S158P probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Cacna2d4 A G 6: 119,322,067 (GRCm39) probably benign Het
Cd109 T C 9: 78,587,452 (GRCm39) probably benign Het
Cep78 C T 19: 15,933,554 (GRCm39) V675M probably damaging Het
Ces4a T C 8: 105,871,554 (GRCm39) probably benign Het
Chpf A G 1: 75,454,367 (GRCm39) V137A probably damaging Het
Comp T C 8: 70,831,751 (GRCm39) S457P possibly damaging Het
Cth A G 3: 157,625,752 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,733,563 (GRCm39) L314P probably damaging Het
Ets1 C T 9: 32,649,589 (GRCm39) R309C probably damaging Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gm9875 T G 2: 13,562,995 (GRCm39) F108V unknown Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Greb1 T C 12: 16,730,213 (GRCm39) Y1738C probably damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Hdac5 A T 11: 102,086,850 (GRCm39) V70E probably damaging Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hsd17b3 T C 13: 64,221,750 (GRCm39) T92A possibly damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Lin28a T C 4: 133,735,410 (GRCm39) probably benign Het
Mapk6 T C 9: 75,305,244 (GRCm39) S58G probably damaging Het
Mmp21 G A 7: 133,279,396 (GRCm39) probably benign Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Mto1 T A 9: 78,364,790 (GRCm39) I343N probably damaging Het
Mto1 C T 9: 78,378,072 (GRCm39) T638M probably damaging Het
Myo18b T C 5: 112,908,193 (GRCm39) K2027E possibly damaging Het
Myo7a T C 7: 97,703,545 (GRCm39) probably benign Het
Nlrp9a T C 7: 26,256,703 (GRCm39) I107T probably damaging Het
Or5k17 C A 16: 58,746,772 (GRCm39) R54L possibly damaging Het
Or8g37 T G 9: 39,731,112 (GRCm39) M59R possibly damaging Het
Osbpl5 A G 7: 143,258,767 (GRCm39) S268P probably damaging Het
Pih1d1 T A 7: 44,809,399 (GRCm39) S289T probably benign Het
Pik3c2b A G 1: 132,998,938 (GRCm39) D353G probably damaging Het
Ppef2 A G 5: 92,378,368 (GRCm39) L609P probably damaging Het
Prune2 A T 19: 17,100,199 (GRCm39) D1901V probably damaging Het
Rdh9 T C 10: 127,612,444 (GRCm39) Y31H possibly damaging Het
Slc5a9 T A 4: 111,741,068 (GRCm39) Y526F possibly damaging Het
Slitrk5 A G 14: 111,918,121 (GRCm39) K582E probably benign Het
Sult1c2 A T 17: 54,138,806 (GRCm39) M257K probably damaging Het
Tasor2 T C 13: 3,624,448 (GRCm39) D1834G probably damaging Het
Tmem132d A G 5: 128,061,351 (GRCm39) I417T possibly damaging Het
Tmem229b T C 12: 79,011,908 (GRCm39) T8A probably benign Het
Tnfrsf17 A T 16: 11,137,683 (GRCm39) D140V probably damaging Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Trio A G 15: 27,831,485 (GRCm39) L194P probably damaging Het
Vmn2r74 T C 7: 85,605,122 (GRCm39) probably benign Het
Vps13c T A 9: 67,828,217 (GRCm39) M1457K probably benign Het
Zfhx2 A G 14: 55,311,258 (GRCm39) C479R possibly damaging Het
Zfp420 T A 7: 29,574,964 (GRCm39) C395S probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zranb2 A G 3: 157,247,400 (GRCm39) S193G 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
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
Predicted Primers PCR Primer
(F):5'- GCACTGCCCGAGTCACAAATTCTC -3'
(R):5'- GCTCAAGCTGACACGGTTTTCTCC -3'

Sequencing Primer
(F):5'- tctccctctccctctccc -3'
(R):5'- GACACGGTTTTCTCCTCTCC -3'
Posted On 2013-07-30