Incidental Mutation 'IGL03082:Smco2'
ID417911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smco2
Ensembl Gene ENSMUSG00000030292
Gene Namesingle-pass membrane protein with coiled-coil domains 2
Synonyms1700023A16Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03082
Quality Score
Status
Chromosome6
Chromosomal Location146850104-146871406 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146860044 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 154 (T154A)
Ref Sequence ENSEMBL: ENSMUSP00000032433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032433]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032433
AA Change: T154A

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032433
Gene: ENSMUSG00000030292
AA Change: T154A

DomainStartEndE-ValueType
Pfam:TMCO5 1 121 3.6e-14 PFAM
Pfam:TMCO5 142 346 2.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,696,547 N324K probably benign Het
Atpaf2 T C 11: 60,403,844 E251G probably damaging Het
Cacna1d T C 14: 30,099,233 K1109E probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Chst1 C T 2: 92,613,933 T250I possibly damaging Het
Cpne6 T C 14: 55,516,303 L406P probably damaging Het
Cryz A G 3: 154,604,926 M8V probably damaging Het
Dpysl2 T C 14: 66,808,010 E438G probably damaging Het
Elovl1 T C 4: 118,430,880 I71T probably benign Het
Eml2 T A 7: 19,201,877 Y679N probably damaging Het
Fam185a G A 5: 21,455,838 V284I possibly damaging Het
Fpgs C T 2: 32,685,757 W391* probably null Het
Hdac11 C T 6: 91,173,103 P295S probably damaging Het
Herc2 A T 7: 56,185,923 I3260F probably benign Het
Hltf G A 3: 20,064,559 probably benign Het
Immp2l T G 12: 41,110,901 V66G possibly damaging Het
Lrrc4c T C 2: 97,630,586 I519T probably benign Het
Megf8 A G 7: 25,330,236 T402A probably benign Het
Mttp T G 3: 138,123,795 I111L probably benign Het
Mycbp2 T A 14: 103,204,369 I1987F probably benign Het
Ncr1 T A 7: 4,341,242 probably benign Het
Nedd4 G A 9: 72,677,394 probably null Het
Nnt A G 13: 119,396,868 F87S probably damaging Het
Nol6 A G 4: 41,115,878 probably benign Het
Pdzd3 A T 9: 44,250,786 S39T possibly damaging Het
Pkhd1 A T 1: 20,565,633 I491N probably damaging Het
Plcxd2 T C 16: 45,965,110 I311V probably damaging Het
Pou2f3 C A 9: 43,146,915 probably null Het
Rgsl1 G A 1: 153,799,947 T836I possibly damaging Het
Rttn G A 18: 88,983,948 G328D probably damaging Het
Serpina11 T C 12: 103,986,301 E77G probably benign Het
Slc35f1 G A 10: 52,933,138 V74I probably benign Het
Slc7a6 A G 8: 106,193,222 probably null Het
Tcerg1 A G 18: 42,573,357 Y1033C probably damaging Het
Tmem87a A G 2: 120,397,366 F100S possibly damaging Het
Tssk4 T C 14: 55,651,061 F129S probably damaging Het
Wdr43 C T 17: 71,638,341 T315I probably damaging Het
Other mutations in Smco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Smco2 APN 6 146861710 missense probably benign 0.38
R0256:Smco2 UTSW 6 146861746 missense probably damaging 1.00
R0402:Smco2 UTSW 6 146871135 critical splice acceptor site probably benign
R1144:Smco2 UTSW 6 146871140 critical splice acceptor site probably benign
R1335:Smco2 UTSW 6 146862087 intron probably benign
R2508:Smco2 UTSW 6 146859967 missense probably damaging 1.00
R4560:Smco2 UTSW 6 146871176 missense possibly damaging 0.94
R4701:Smco2 UTSW 6 146861942 intron probably benign
R4987:Smco2 UTSW 6 146856092 missense possibly damaging 0.59
R5322:Smco2 UTSW 6 146871287 missense probably damaging 1.00
R6764:Smco2 UTSW 6 146871329 missense probably damaging 0.99
R7023:Smco2 UTSW 6 146858856 nonsense probably null
R7090:Smco2 UTSW 6 146871213 missense probably damaging 0.97
R7220:Smco2 UTSW 6 146858865 missense probably benign
Posted On2016-08-02