Incidental Mutation 'IGL01773:Tmem186'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem186
Ensembl Gene ENSMUSG00000043140
Gene Nametransmembrane protein 186
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL01773
Quality Score
Chromosomal Location8633229-8637712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8635977 bp
Amino Acid Change Leucine to Proline at position 140 (L140P)
Ref Sequence ENSEMBL: ENSMUSP00000053862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023396] [ENSMUST00000052505] [ENSMUST00000230828]
Predicted Effect probably benign
Transcript: ENSMUST00000023396
SMART Domains Protein: ENSMUSP00000023396
Gene: ENSMUSG00000022711

Pfam:Hydrolase_3 5 229 1.6e-11 PFAM
Pfam:PMM 24 242 6.7e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000052505
AA Change: L140P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053862
Gene: ENSMUSG00000043140
AA Change: L140P

transmembrane domain 69 91 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143174
Predicted Effect probably benign
Transcript: ENSMUST00000230828
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1s C A 1: 136,118,753 H1775Q probably benign Het
Calcrl A G 2: 84,370,443 Y86H probably benign Het
Ccdc63 T C 5: 122,113,145 K401E possibly damaging Het
Col9a1 A G 1: 24,205,066 T127A probably benign Het
Cpq T A 15: 33,212,850 F5Y probably benign Het
Cuzd1 T A 7: 131,314,885 M282L probably damaging Het
Ddx10 C A 9: 53,204,130 D635Y possibly damaging Het
Ect2l T C 10: 18,161,504 D382G probably damaging Het
Ganc T C 2: 120,459,884 S901P possibly damaging Het
Gpr179 G A 11: 97,341,366 R671C probably benign Het
Isl2 T C 9: 55,544,220 L219P probably damaging Het
Mfsd13a T C 19: 46,369,294 S296P possibly damaging Het
Mtmr7 A T 8: 40,581,419 L287Q probably damaging Het
Olfr1355 A G 10: 78,879,936 T255A possibly damaging Het
Olfr607 T G 7: 103,461,014 M60L possibly damaging Het
Olfr741 T C 14: 50,485,773 F105S probably damaging Het
Olfr945 A G 9: 39,258,534 I46T probably damaging Het
Pik3c3 T A 18: 30,277,102 F130I probably damaging Het
Rab3gap1 T A 1: 127,918,221 S277R possibly damaging Het
Rassf9 A G 10: 102,545,633 K290R probably benign Het
Rnaseh2a A T 8: 84,965,138 V136D probably damaging Het
Rnf39 C T 17: 36,945,436 S140L possibly damaging Het
Sbno2 A G 10: 80,057,831 V1212A probably damaging Het
Slc4a10 A T 2: 62,190,757 I50F probably damaging Het
Slfn5 A T 11: 82,961,331 E761V probably damaging Het
Sptlc1 A G 13: 53,377,298 Y18H probably damaging Het
Tfam A G 10: 71,236,975 M9T possibly damaging Het
Try4 A T 6: 41,305,026 N182I probably damaging Het
Vmn1r209 C T 13: 22,806,280 C80Y probably damaging Het
Vmn2r104 A T 17: 20,040,668 S498T probably benign Het
Other mutations in Tmem186
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01612:Tmem186 APN 16 8635869 missense possibly damaging 0.71
R2311:Tmem186 UTSW 16 8635884 missense probably benign 0.00
R4386:Tmem186 UTSW 16 8636023 missense probably benign 0.30
R4827:Tmem186 UTSW 16 8635817 nonsense probably null
R5979:Tmem186 UTSW 16 8636160 missense probably damaging 1.00
R7780:Tmem186 UTSW 16 8635867 missense probably benign 0.04
R8020:Tmem186 UTSW 16 8636160 missense probably damaging 1.00
Posted On2014-02-04