Incidental Mutation 'R8934:Tmem237'
ID 680493
Institutional Source Beutler Lab
Gene Symbol Tmem237
Ensembl Gene ENSMUSG00000038079
Gene Name transmembrane protein 237
Synonyms Als2cr4, LOC381259
MMRRC Submission 068777-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R8934 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 59139749-59159567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59153338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 61 (N61S)
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: N58S

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084745
Gene: ENSMUSG00000038079
AA Change: N58S

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: N68S

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000092522
Gene: ENSMUSG00000038079
AA Change: N68S

DomainStartEndE-ValueType
Pfam:TMEM237 148 391 3.4e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186395
AA Change: N61S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000186794
AA Change: N82S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139823
Gene: ENSMUSG00000038079
AA Change: N82S

DomainStartEndE-ValueType
Pfam:TMEM237 158 406 5.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190014
AA Change: N53S

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000140134
Gene: ENSMUSG00000038079
AA Change: N53S

DomainStartEndE-ValueType
Pfam:TMEM237 129 230 9e-28 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G A 14: 32,382,614 (GRCm39) S1117L possibly damaging Het
Abce1 A G 8: 80,429,661 (GRCm39) Y87H probably damaging Het
Adad2 G A 8: 120,341,535 (GRCm39) probably benign Het
Adamts12 A G 15: 11,300,015 (GRCm39) T901A probably damaging Het
Adamts18 T A 8: 114,463,510 (GRCm39) I779F possibly damaging Het
Bod1l T C 5: 41,976,944 (GRCm39) T1457A probably benign Het
Brat1 T C 5: 140,696,004 (GRCm39) V125A probably benign Het
C4b G A 17: 34,951,958 (GRCm39) R1296C possibly damaging Het
C5ar1 A T 7: 15,982,402 (GRCm39) L206Q probably damaging Het
Cfap126 A G 1: 170,953,690 (GRCm39) T87A probably benign Het
Cnot1 A T 8: 96,491,695 (GRCm39) N376K probably benign Het
Cyp3a44 A T 5: 145,731,786 (GRCm39) I120K possibly damaging Het
Ddx17 T C 15: 79,420,217 (GRCm39) E384G possibly damaging Het
Dipk1b G A 2: 26,524,866 (GRCm39) V89M possibly damaging Het
Dnah14 T C 1: 181,450,288 (GRCm39) S634P possibly damaging Het
Dusp16 A T 6: 134,718,639 (GRCm39) probably benign Het
Eml2 G A 7: 18,913,738 (GRCm39) R185H probably damaging Het
Epdr1 T C 13: 19,777,350 (GRCm39) E216G possibly damaging Het
Erv3 T C 2: 131,698,101 (GRCm39) H86R probably benign Het
Gm5114 A G 7: 39,060,553 (GRCm39) W99R probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Hjv T G 3: 96,433,909 (GRCm39) C27G probably damaging Het
Ifrd2 T C 9: 107,469,469 (GRCm39) probably benign Het
Ikbkb T C 8: 23,150,407 (GRCm39) *758W probably null Het
Il1rap T C 16: 26,495,734 (GRCm39) C114R probably damaging Het
Irf6 T C 1: 192,845,033 (GRCm39) I168T probably benign Het
Kmt2d T C 15: 98,759,767 (GRCm39) I1164V unknown Het
Lamb3 T C 1: 193,021,168 (GRCm39) L915P probably damaging Het
Lca5 T C 9: 83,273,909 (GRCm39) probably benign Het
Lhx3 C A 2: 26,092,258 (GRCm39) R211L probably damaging Het
Mettl8 T C 2: 70,882,062 (GRCm39) probably benign Het
Mroh1 T C 15: 76,334,386 (GRCm39) S1297P probably benign Het
Myh14 T A 7: 44,306,852 (GRCm39) T232S probably benign Het
Nemp2 T A 1: 52,688,868 (GRCm39) F377L probably damaging Het
Obscn A G 11: 58,889,085 (GRCm39) probably null Het
Or4b1b T A 2: 90,112,356 (GRCm39) T188S probably benign Het
Or51ah3 T C 7: 103,210,290 (GRCm39) V202A probably benign Het
Pgbd5 A C 8: 125,110,998 (GRCm39) V231G possibly damaging Het
Pitrm1 T C 13: 6,606,666 (GRCm39) L240P probably benign Het
Pkhd1 A G 1: 20,462,234 (GRCm39) probably null Het
Ppp2r5a T A 1: 191,100,835 (GRCm39) probably benign Het
Pramel31 C T 4: 144,090,345 (GRCm39) L462F possibly damaging Het
Prss30 C T 17: 24,192,628 (GRCm39) C147Y probably damaging Het
Ptpru C T 4: 131,546,297 (GRCm39) V318M probably damaging Het
Rpap1 C T 2: 119,599,730 (GRCm39) probably null Het
Rptn A G 3: 93,303,219 (GRCm39) Q184R probably benign Het
Rufy1 T A 11: 50,298,705 (GRCm39) Q362L probably benign Het
Rundc1 A G 11: 101,322,327 (GRCm39) K274E probably damaging Het
Shroom3 T A 5: 93,089,584 (GRCm39) I778K probably damaging Het
Slamf6 C T 1: 171,745,338 (GRCm39) L22F possibly damaging Het
St7l A G 3: 104,796,634 (GRCm39) E249G probably damaging Het
Tyk2 T C 9: 21,038,416 (GRCm39) probably benign Het
Ubtf G T 11: 102,204,855 (GRCm39) P115T probably damaging Het
Vmn2r70 T A 7: 85,211,188 (GRCm39) I508F possibly damaging Het
Zfp609 C T 9: 65,610,561 (GRCm39) A801T possibly damaging Het
Zfp663 A T 2: 165,194,714 (GRCm39) C502S 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
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
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'- AAGGGTCTGAGTCACTGGAC -3'
(R):5'- TCAGTGTAGAGCCTGAAGTGAG -3'

Sequencing Primer
(F):5'- TCACTGGACTTGAAATGGTAGG -3'
(R):5'- GAGGAGCCGTAAAGTCAGGTAG -3'
Posted On 2021-08-31