Incidental Mutation 'IGL01773:Tmem186'
ID153728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem186
Ensembl Gene ENSMUSG00000043140
Gene Nametransmembrane protein 186
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL01773
Quality Score
Status
Chromosome16
Chromosomal Location8633229-8637712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8635977 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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