Incidental Mutation 'IGL00833:Tmco5b'
ID14483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmco5b
Ensembl Gene ENSMUSG00000041255
Gene Nametransmembrane and coiled-coil domains 5B
Synonyms4930563P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00833
Quality Score
Status
Chromosome2
Chromosomal Location113285732-113297190 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113296849 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 255 (I255N)
Ref Sequence ENSEMBL: ENSMUSP00000042247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040856]
Predicted Effect probably damaging
Transcript: ENSMUST00000040856
AA Change: I255N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042247
Gene: ENSMUSG00000041255
AA Change: I255N

DomainStartEndE-ValueType
Pfam:TMCO5 28 306 5.4e-121 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3a1 A G 11: 61,217,180 E350G probably damaging Het
Apob T C 12: 8,010,101 V2861A probably benign Het
Bpifb9a C T 2: 154,264,275 Q358* probably null Het
Cbfa2t2 T A 2: 154,528,875 Y423N probably damaging Het
Cd209e A C 8: 3,852,800 M102R probably benign Het
Ddx42 T A 11: 106,231,178 V173D possibly damaging Het
Dnah11 A G 12: 118,179,580 F443L probably damaging Het
Exoc4 G A 6: 33,971,924 E901K probably damaging Het
Gp5 T C 16: 30,309,466 D130G possibly damaging Het
H2-T3 T G 17: 36,187,041 S327R probably benign Het
Myo1e T C 9: 70,338,778 I417T probably damaging Het
Nasp A G 4: 116,602,736 V377A probably damaging Het
Nbn A G 4: 15,964,320 I132V probably benign Het
Nckap5 C A 1: 126,027,152 K622N probably damaging Het
Nlrp4e G A 7: 23,340,471 V740I probably benign Het
Polr3gl T G 3: 96,578,560 D130A probably damaging Het
Ptprc T C 1: 138,078,492 K784R possibly damaging Het
Sycp1 A G 3: 102,876,301 probably null Het
Tg C T 15: 66,688,801 T1004I probably benign Het
Ubr4 G A 4: 139,393,159 probably null Het
Zeb1 A G 18: 5,767,774 T762A probably benign Het
Zfp345 T C 2: 150,472,729 E296G probably damaging Het
Other mutations in Tmco5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Tmco5b APN 2 113287798 splice site probably benign
IGL01501:Tmco5b APN 2 113291381 missense probably null 0.81
IGL02244:Tmco5b APN 2 113288274 missense probably damaging 1.00
IGL02899:Tmco5b APN 2 113296920 missense probably benign 0.26
R1495:Tmco5b UTSW 2 113290791 missense possibly damaging 0.93
R4821:Tmco5b UTSW 2 113289757 missense probably benign 0.00
R4972:Tmco5b UTSW 2 113296993 missense probably damaging 0.99
R7076:Tmco5b UTSW 2 113287421 missense probably damaging 1.00
R7200:Tmco5b UTSW 2 113291377 missense probably damaging 1.00
R7750:Tmco5b UTSW 2 113288264 missense probably damaging 0.99
Posted On2012-12-06