Incidental Mutation 'R0257:Tmem64'
ID 34773
Institutional Source Beutler Lab
Gene Symbol Tmem64
Ensembl Gene ENSMUSG00000043252
Gene Name transmembrane protein 64
Synonyms 9630015D15Rik
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R0257 (G1)
Quality Score 93
Status Validated
Chromosome 4
Chromosomal Location 15265831-15286753 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15266343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 131 (A131V)
Ref Sequence ENSEMBL: ENSMUSP00000055892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062684]
AlphaFold Q3U145
Predicted Effect probably damaging
Transcript: ENSMUST00000062684
AA Change: A131V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055892
Gene: ENSMUSG00000043252
AA Change: A131V

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
transmembrane domain 87 104 N/A INTRINSIC
transmembrane domain 124 146 N/A INTRINSIC
Pfam:SNARE_assoc 173 296 2.2e-21 PFAM
transmembrane domain 309 331 N/A INTRINSIC
Meta Mutation Damage Score 0.1553 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired osteoclast differentiation, enhanced osteoblast differentiation and increased bone mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,401,107 (GRCm39) E171D probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Ahsg A T 16: 22,717,790 (GRCm39) M256L probably benign Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Ano2 C A 6: 125,857,676 (GRCm39) A505E probably benign Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Fktn A G 4: 53,734,898 (GRCm39) T179A probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,728 (GRCm39) I894V possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rps6ka2 C A 17: 7,495,382 (GRCm39) S57Y probably damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Tmem64
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Tmem64 APN 4 15,266,694 (GRCm39) missense probably damaging 1.00
IGL02407:Tmem64 APN 4 15,266,584 (GRCm39) missense probably damaging 1.00
PIT4151001:Tmem64 UTSW 4 15,283,159 (GRCm39) missense probably damaging 1.00
R0737:Tmem64 UTSW 4 15,266,717 (GRCm39) missense probably damaging 0.98
R2217:Tmem64 UTSW 4 15,266,658 (GRCm39) missense possibly damaging 0.89
R2218:Tmem64 UTSW 4 15,266,658 (GRCm39) missense possibly damaging 0.89
R2571:Tmem64 UTSW 4 15,266,718 (GRCm39) missense probably damaging 1.00
R5133:Tmem64 UTSW 4 15,281,119 (GRCm39) missense probably damaging 1.00
R5707:Tmem64 UTSW 4 15,266,288 (GRCm39) missense probably damaging 0.98
R7219:Tmem64 UTSW 4 15,266,700 (GRCm39) missense probably damaging 1.00
R7498:Tmem64 UTSW 4 15,266,176 (GRCm39) missense probably benign 0.00
R8967:Tmem64 UTSW 4 15,266,575 (GRCm39) missense probably damaging 0.99
R9086:Tmem64 UTSW 4 15,266,718 (GRCm39) missense probably damaging 1.00
R9093:Tmem64 UTSW 4 15,266,391 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- TATCTGGAGCGCCACGGTCT -3'
(R):5'- TCCCTCCACGACGCGGATAA -3'

Sequencing Primer
(F):5'- TGGCCGAGGTGAGAAACTG -3'
(R):5'- ATAACGGCGCTCAGCTTG -3'
Posted On 2013-05-09