Incidental Mutation 'IGL01542:Tmem167b'
ID 90193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem167b
Ensembl Gene ENSMUSG00000068732
Gene Name transmembrane protein 167B
Synonyms 2010200O16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # IGL01542
Quality Score
Status
Chromosome 3
Chromosomal Location 108463741-108469782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108466222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 75 (N75K)
Ref Sequence ENSEMBL: ENSMUSP00000102233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090546] [ENSMUST00000106622]
AlphaFold Q80X45
Predicted Effect possibly damaging
Transcript: ENSMUST00000090546
AA Change: M66K

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088035
Gene: ENSMUSG00000068732
AA Change: M66K

DomainStartEndE-ValueType
Pfam:DUF1242 10 46 7.6e-14 PFAM
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000106622
AA Change: N75K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102233
Gene: ENSMUSG00000068732
AA Change: N75K

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
low complexity region 58 78 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199996
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Arhgap20 A G 9: 51,750,187 (GRCm39) M316V probably benign Het
Chd7 T G 4: 8,859,285 (GRCm39) N2458K possibly damaging Het
Clock T C 5: 76,379,322 (GRCm39) E538G possibly damaging Het
Clpb G A 7: 101,436,712 (GRCm39) V596I probably damaging Het
Col9a3 T C 2: 180,251,109 (GRCm39) probably benign Het
D130043K22Rik G A 13: 25,060,020 (GRCm39) probably null Het
Drd4 T C 7: 140,873,744 (GRCm39) probably benign Het
Fam228b A T 12: 4,813,055 (GRCm39) I105N probably damaging Het
Gm20939 A T 17: 95,181,721 (GRCm39) probably benign Het
Gm4952 A G 19: 12,595,771 (GRCm39) T54A possibly damaging Het
Hbs1l T C 10: 21,183,655 (GRCm39) V132A probably benign Het
Kpna2 T A 11: 106,882,027 (GRCm39) E266D probably benign Het
Lars1 T C 18: 42,347,892 (GRCm39) E977G probably benign Het
Lrrn4 T C 2: 132,721,392 (GRCm39) T142A probably benign Het
Myo19 T C 11: 84,800,372 (GRCm39) L919P probably damaging Het
Nhlrc1 A T 13: 47,167,607 (GRCm39) F217I probably damaging Het
Or10q12 T C 19: 13,745,901 (GRCm39) F65S probably damaging Het
Plch1 T C 3: 63,639,070 (GRCm39) I468V probably damaging Het
Rergl T A 6: 139,470,496 (GRCm39) probably null Het
Sctr A G 1: 119,972,499 (GRCm39) probably benign Het
Sdhb T C 4: 140,700,278 (GRCm39) V126A probably benign Het
Smad3 C T 9: 63,562,868 (GRCm39) R214Q probably damaging Het
Spmip3 A G 1: 177,570,950 (GRCm39) T95A possibly damaging Het
Tdrd9 T C 12: 112,013,423 (GRCm39) M1219T possibly damaging Het
Vmn2r83 T C 10: 79,314,846 (GRCm39) S365P probably benign Het
Vps16 T C 2: 130,280,314 (GRCm39) F153L probably damaging Het
Other mutations in Tmem167b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0847:Tmem167b UTSW 3 108,467,537 (GRCm39) missense probably benign
R5310:Tmem167b UTSW 3 108,469,415 (GRCm39) intron probably benign
R5524:Tmem167b UTSW 3 108,467,569 (GRCm39) missense possibly damaging 0.84
R5808:Tmem167b UTSW 3 108,467,559 (GRCm39) missense probably benign 0.27
R6093:Tmem167b UTSW 3 108,469,439 (GRCm39) start codon destroyed probably null
R6358:Tmem167b UTSW 3 108,466,211 (GRCm39) missense possibly damaging 0.94
R7716:Tmem167b UTSW 3 108,466,213 (GRCm39) missense probably damaging 1.00
R8922:Tmem167b UTSW 3 108,467,541 (GRCm39) missense probably benign 0.05
Posted On 2013-12-03