Incidental Mutation 'R8268:Tmem167'
ID 639554
Institutional Source Beutler Lab
Gene Symbol Tmem167
Ensembl Gene ENSMUSG00000012422
Gene Name transmembrane protein 167
Synonyms 5730424F14Rik, 0610041E09Rik, Gm10085
MMRRC Submission 067692-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R8268 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 90237843-90263047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90252554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 70 (F70S)
Ref Sequence ENSEMBL: ENSMUSP00000125314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012566] [ENSMUST00000161457] [ENSMUST00000161568]
AlphaFold Q9CR64
Predicted Effect probably benign
Transcript: ENSMUST00000012566
SMART Domains Protein: ENSMUSP00000012566
Gene: ENSMUSG00000012422

DomainStartEndE-ValueType
Pfam:DUF1242 10 44 2.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161457
SMART Domains Protein: ENSMUSP00000124571
Gene: ENSMUSG00000012422

DomainStartEndE-ValueType
Pfam:DUF1242 10 44 4.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161568
AA Change: F70S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125314
Gene: ENSMUSG00000012422
AA Change: F70S

DomainStartEndE-ValueType
Pfam:DUF1242 10 44 3.5e-23 PFAM
transmembrane domain 54 71 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (37/38)
Allele List at MGI

All alleles(27) : Gene trapped(27)
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,909,961 (GRCm39) C396S probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Ciapin1 A G 8: 95,558,511 (GRCm39) V67A probably benign Het
Col7a1 A G 9: 108,802,057 (GRCm39) R2018G unknown Het
Dnah11 A T 12: 117,991,243 (GRCm39) Y2374* probably null Het
Dnah7b G T 1: 46,395,736 (GRCm39) M3879I probably benign Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Gm12258 A C 11: 58,745,084 (GRCm39) probably null Het
Hpse A G 5: 100,846,907 (GRCm39) L174S probably damaging Het
Hspa8 A G 9: 40,714,448 (GRCm39) K248R probably damaging Het
Kcnt2 A C 1: 140,450,954 (GRCm39) R744S probably damaging Het
Klhl32 G A 4: 24,800,843 (GRCm39) probably benign Het
Mkrn3 A G 7: 62,068,270 (GRCm39) L507P probably damaging Het
Myom2 T G 8: 15,179,157 (GRCm39) F1330V probably damaging Het
Nr1d2 A G 14: 18,216,659 (GRCm38) S170P probably damaging Het
Nt5dc1 T C 10: 34,186,407 (GRCm39) D388G probably damaging Het
Or12e9 C A 2: 87,202,332 (GRCm39) A152E probably damaging Het
Or13a17 A G 7: 140,271,430 (GRCm39) D204G probably damaging Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Or7a36 T A 10: 78,819,831 (GRCm39) V69E probably damaging Het
Pigg T A 5: 108,486,509 (GRCm39) S721T probably damaging Het
Prr5 T C 15: 84,587,192 (GRCm39) L323P probably benign Het
Rapgef2 T A 3: 78,993,263 (GRCm39) I742L probably benign Het
Rxrb A G 17: 34,254,750 (GRCm39) S302G probably benign Het
Setd5 T G 6: 113,126,651 (GRCm39) probably null Het
Sh3bgr A G 16: 96,025,674 (GRCm39) T187A unknown Het
Sh3pxd2a C T 19: 47,256,033 (GRCm39) R923H probably benign Het
Slc26a10 A G 10: 127,009,491 (GRCm39) probably null Het
Slc9a1 T A 4: 133,097,934 (GRCm39) V27E probably benign Het
Stard3nl A G 13: 19,560,629 (GRCm39) S49P probably damaging Het
Stxbp2 G A 8: 3,682,234 (GRCm39) V17I Het
Themis3 C T 17: 66,862,786 (GRCm39) E391K probably benign Het
Tia1 A G 6: 86,404,996 (GRCm39) probably benign Het
Trpm6 C A 19: 18,851,225 (GRCm39) Q1729K possibly damaging Het
Tsc2 A C 17: 24,818,984 (GRCm39) L1285W probably benign Het
Uchl4 A T 9: 64,142,791 (GRCm39) I91F probably damaging Het
Wdfy3 C T 5: 102,089,476 (GRCm39) A573T probably damaging Het
Zc2hc1c C T 12: 85,336,595 (GRCm39) S84F probably benign Het
Zfp143 A G 7: 109,690,991 (GRCm39) D515G probably benign Het
Other mutations in Tmem167
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01665:Tmem167 APN 13 90,246,504 (GRCm39) missense probably damaging 1.00
IGL02602:Tmem167 APN 13 90,252,499 (GRCm39) missense probably damaging 0.98
3370:Tmem167 UTSW 13 90,246,585 (GRCm39) missense probably damaging 0.99
H8786:Tmem167 UTSW 13 90,246,585 (GRCm39) missense probably damaging 0.99
R3236:Tmem167 UTSW 13 90,252,499 (GRCm39) missense probably benign 0.34
R4820:Tmem167 UTSW 13 90,252,548 (GRCm39) missense probably benign 0.06
R7041:Tmem167 UTSW 13 90,246,533 (GRCm39) missense probably benign 0.26
R8516:Tmem167 UTSW 13 90,246,515 (GRCm39) missense probably damaging 1.00
V3553:Tmem167 UTSW 13 90,246,585 (GRCm39) missense probably damaging 0.99
Z1177:Tmem167 UTSW 13 90,251,406 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCTTGAGCTGAAGTTTTAATGTACC -3'
(R):5'- CGTGCCCGAAGAACCTTATG -3'

Sequencing Primer
(F):5'- GCTGAAGTTTTAATGTACCTTCTTGC -3'
(R):5'- GAACCTTATGAAAAGCAGTCCTG -3'
Posted On 2020-07-28