Incidental Mutation '3370:Tmem167'
ID71
Institutional Source Beutler Lab
Gene Symbol Tmem167
Ensembl Gene ENSMUSG00000012422
Gene Nametransmembrane protein 167
Synonyms5730424F14Rik, Gm10085, 0610041E09Rik
Accession Numbers

Genbank: NM_025335; MGI: 1913324

Is this an essential gene? Possibly non essential (E-score: 0.354) question?
Stock #3370 of strain dazzle
Quality Score
Status Validated
Chromosome13
Chromosomal Location90089123-90143907 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 90098466 bp
ZygosityHomozygous
Amino Acid Change Lysine to Asparagine at position 36 (K36N)
Ref Sequence ENSEMBL: ENSMUSP00000124571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012566] [ENSMUST00000161457] [ENSMUST00000161568]
Predicted Effect possibly damaging
Transcript: ENSMUST00000012566
AA Change: K36N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000012566
Gene: ENSMUSG00000012422
AA Change: K36N

DomainStartEndE-ValueType
Pfam:DUF1242 10 44 2.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157683
Predicted Effect probably damaging
Transcript: ENSMUST00000161457
AA Change: K36N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124571
Gene: ENSMUSG00000012422
AA Change: K36N

DomainStartEndE-ValueType
Pfam:DUF1242 10 44 4.6e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161568
AA Change: K36N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125314
Gene: ENSMUSG00000012422
AA Change: K36N

DomainStartEndE-ValueType
Pfam:DUF1242 10 44 3.5e-23 PFAM
transmembrane domain 54 71 N/A INTRINSIC
Meta Mutation Damage Score 0.4911 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 41.6%
Validation Efficiency 55% (17/31)
Allele List at MGI

All alleles(27) : Gene trapped(27)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca2 C T 3: 145,077,977 A626T probably damaging Homo
Dido1 A G 2: 180,671,542 M979T probably benign Homo
Mnx1 A G 5: 29,474,887 C241R unknown Homo
Rab38 A G 7: 88,490,651 H176R probably benign Homo
Tap2 A G 17: 34,209,279 probably null Homo
Other mutations in Tmem167
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Tmem167 APN 13 90098385 missense probably damaging 1.00
IGL02602:Tmem167 APN 13 90104380 missense probably damaging 0.98
H8786:Tmem167 UTSW 13 90098466 missense probably damaging 0.99
R3236:Tmem167 UTSW 13 90104380 missense probably benign 0.34
R4820:Tmem167 UTSW 13 90104429 missense probably benign 0.06
R7041:Tmem167 UTSW 13 90098414 missense probably benign 0.26
R8268:Tmem167 UTSW 13 90104435 missense probably damaging 1.00
V3553:Tmem167 UTSW 13 90098466 missense probably damaging 0.99
Z1177:Tmem167 UTSW 13 90103287 critical splice acceptor site probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to C transition at position 222 of the Tmem167 transcript in exon 2 of 4 total exons. The mutated nucleotide causes a cysteine to phenylalanine substitution at amino acid 154 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Tmem167 gene encodes a 72 amino acid single-pass type I membrane protein. Tmem167a contains a signal peptide at amino acids 1-26, an extracellular region at amino acids 27-53, and a transmembrane region at residues 54-71. The protein belongs to UPF0373 protein family. The functions of these proteins are unknown (Uniprot Q9CR64).
 
The H36R change occurs in the extracellular region of the protein, and is predicted to be possibly damaging by the PolyPhen program.
Posted On2009-12-08