Incidental Mutation 'IGL01542:Tmem167b'
ID90193
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem167b
Ensembl Gene ENSMUSG00000068732
Gene Nametransmembrane protein 167B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.214) question?
Stock #IGL01542
Quality Score
Status
Chromosome3
Chromosomal Location108556425-108562466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108558906 bp
ZygosityHeterozygous
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]
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
1700016C15Rik A G 1: 177,743,384 T95A possibly damaging Het
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Arhgap20 A G 9: 51,838,887 M316V probably benign Het
Chd7 T G 4: 8,859,285 N2458K possibly damaging Het
Clock T C 5: 76,231,475 E538G possibly damaging Het
Clpb G A 7: 101,787,505 V596I probably damaging Het
Col9a3 T C 2: 180,609,316 probably benign Het
D130043K22Rik G A 13: 24,876,037 probably null Het
Drd4 T C 7: 141,293,831 probably benign Het
Fam228b A T 12: 4,763,055 I105N probably damaging Het
Gm20939 A T 17: 94,874,293 probably benign Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Hbs1l T C 10: 21,307,756 V132A probably benign Het
Kpna2 T A 11: 106,991,201 E266D probably benign Het
Lars T C 18: 42,214,827 E977G probably benign Het
Lrrn4 T C 2: 132,879,472 T142A probably benign Het
Myo19 T C 11: 84,909,546 L919P probably damaging Het
Nhlrc1 A T 13: 47,014,131 F217I probably damaging Het
Olfr1495 T C 19: 13,768,537 F65S probably damaging Het
Plch1 T C 3: 63,731,649 I468V probably damaging Het
Rergl T A 6: 139,493,498 probably null Het
Sctr A G 1: 120,044,769 probably benign Het
Sdhb T C 4: 140,972,967 V126A probably benign Het
Smad3 C T 9: 63,655,586 R214Q probably damaging Het
Tdrd9 T C 12: 112,046,989 M1219T possibly damaging Het
Vmn2r83 T C 10: 79,479,012 S365P probably benign Het
Vps16 T C 2: 130,438,394 F153L probably damaging Het
Other mutations in Tmem167b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0847:Tmem167b UTSW 3 108560221 missense probably benign
R5310:Tmem167b UTSW 3 108562099 intron probably benign
R5524:Tmem167b UTSW 3 108560253 missense possibly damaging 0.84
R5808:Tmem167b UTSW 3 108560243 missense probably benign 0.27
R6093:Tmem167b UTSW 3 108562123 start codon destroyed probably null
R6358:Tmem167b UTSW 3 108558895 missense possibly damaging 0.94
R7716:Tmem167b UTSW 3 108558897 missense probably damaging 1.00
Posted On2013-12-03