Incidental Mutation 'IGL03376:Tmco2'
ID 420481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco2
Ensembl Gene ENSMUSG00000078577
Gene Name transmembrane and coiled-coil domains 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL03376
Quality Score
Status
Chromosome 4
Chromosomal Location 121105651-121109226 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121109052 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 36 (T36S)
Ref Sequence ENSEMBL: ENSMUSP00000101875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106268]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000106268
AA Change: T36S

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101875
Gene: ENSMUSG00000078577
AA Change: T36S

DomainStartEndE-ValueType
Pfam:TMCCDC2 11 182 2.8e-97 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1b2 T C 8: 69,102,159 probably benign Het
Ccdc122 A G 14: 77,068,912 E41G probably damaging Het
Cdh3 C T 8: 106,541,404 T357I probably benign Het
Cfap57 T A 4: 118,584,720 Q717L probably damaging Het
Cfap58 A T 19: 48,034,725 T859S possibly damaging Het
Cmtr1 C T 17: 29,691,411 R497C probably benign Het
Csmd2 T C 4: 128,517,671 I2494T probably benign Het
Dmkn C T 7: 30,771,242 T385I possibly damaging Het
Eml3 A G 19: 8,933,790 D260G probably damaging Het
Gbf1 T C 19: 46,262,521 F493L possibly damaging Het
Gjb5 C T 4: 127,356,255 R32H probably damaging Het
Hpx C T 7: 105,592,251 probably benign Het
Ikzf3 T A 11: 98,488,953 H163L probably damaging Het
Irak3 G A 10: 120,146,636 probably benign Het
Itih5 G A 2: 10,206,773 V275I probably benign Het
Klc1 G T 12: 111,775,953 E174D probably damaging Het
Ly6g6e A G 17: 35,078,232 *108W probably null Het
Mcph1 T C 8: 18,596,973 S31P probably damaging Het
Mettl4 A T 17: 94,735,371 S346T probably damaging Het
Myo3a A T 2: 22,600,074 probably benign Het
Olfr703 T A 7: 106,845,470 N286K probably damaging Het
Otol1 A G 3: 70,027,512 E279G probably damaging Het
Pappa T A 4: 65,196,834 N722K probably benign Het
Pramel7 A G 2: 87,489,603 S449P probably damaging Het
Rassf9 A G 10: 102,545,198 N145S probably damaging Het
Robo2 T C 16: 73,956,492 I158M probably damaging Het
Sbf1 A G 15: 89,289,016 probably benign Het
Slc30a8 C T 15: 52,306,457 R27* probably null Het
Tns4 T C 11: 99,078,556 S360G probably benign Het
Vwa8 A G 14: 79,183,134 probably null Het
Wwc1 C T 11: 35,852,294 R900Q possibly damaging Het
Zzef1 T C 11: 72,876,551 probably benign Het
Other mutations in Tmco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02591:Tmco2 APN 4 121105790 missense probably damaging 1.00
R0556:Tmco2 UTSW 4 121109117 missense probably damaging 1.00
R5386:Tmco2 UTSW 4 121105984 missense probably damaging 1.00
R5535:Tmco2 UTSW 4 121105993 missense possibly damaging 0.92
Posted On 2016-08-02