Incidental Mutation 'IGL00341:Tmem64'
ID6708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem64
Ensembl Gene ENSMUSG00000043252
Gene Nametransmembrane protein 64
Synonyms9630015D15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL00341
Quality Score
Status
Chromosome4
Chromosomal Location15265831-15286753 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15266694 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 248 (V248E)
Ref Sequence ENSEMBL: ENSMUSP00000055892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062684]
Predicted Effect probably damaging
Transcript: ENSMUST00000062684
AA Change: V248E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055892
Gene: ENSMUSG00000043252
AA Change: V248E

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,280,269 Y519* probably null Het
Bahcc1 A G 11: 120,272,304 Y476C probably damaging Het
Bclaf1 A T 10: 20,325,999 E295D probably damaging Het
Bend3 A G 10: 43,511,543 D644G probably damaging Het
Ccdc122 G A 14: 77,091,739 M77I probably benign Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Dnah11 T C 12: 118,198,745 R30G probably benign Het
Hoxc4 A G 15: 103,035,838 D214G probably damaging Het
Itsn2 A T 12: 4,658,027 T778S possibly damaging Het
Kcnn2 A G 18: 45,677,071 probably benign Het
Krtap5-3 G T 7: 142,201,875 probably benign Het
Lgr5 G T 10: 115,454,464 Q516K possibly damaging Het
Lrpprc T C 17: 84,750,525 K759R possibly damaging Het
Mtfr2 A G 10: 20,357,648 D321G probably damaging Het
Nip7 A G 8: 107,057,170 Y45C possibly damaging Het
Olfr1216 T C 2: 89,013,924 I47V probably benign Het
Pak1ip1 A T 13: 41,008,018 T84S possibly damaging Het
Ptpn20 C A 14: 33,622,619 R167S probably benign Het
Rab4b C T 7: 27,172,726 G190S probably damaging Het
Ropn1l T A 15: 31,443,349 D179V probably damaging Het
Shc2 C T 10: 79,621,069 R571Q probably damaging Het
Smad1 A G 8: 79,356,469 V134A probably damaging Het
Smad6 A G 9: 63,953,981 V344A probably damaging Het
Tet2 A G 3: 133,488,085 L196P possibly damaging Het
Ttc7 C T 17: 87,363,564 T709I possibly damaging Het
Usp31 A G 7: 121,706,670 L195P probably damaging Het
Vmn2r112 G A 17: 22,618,936 V793I probably benign Het
Xpo5 T G 17: 46,225,047 L535R probably damaging Het
Ythdc2 A T 18: 44,850,397 M544L probably benign Het
Other mutations in Tmem64
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Tmem64 APN 4 15266584 missense probably damaging 1.00
PIT4151001:Tmem64 UTSW 4 15283159 missense probably damaging 1.00
R0257:Tmem64 UTSW 4 15266343 missense probably damaging 1.00
R0737:Tmem64 UTSW 4 15266717 missense probably damaging 0.98
R2217:Tmem64 UTSW 4 15266658 missense possibly damaging 0.89
R2218:Tmem64 UTSW 4 15266658 missense possibly damaging 0.89
R2571:Tmem64 UTSW 4 15266718 missense probably damaging 1.00
R5133:Tmem64 UTSW 4 15281119 missense probably damaging 1.00
R5707:Tmem64 UTSW 4 15266288 missense probably damaging 0.98
R7219:Tmem64 UTSW 4 15266700 missense probably damaging 1.00
R7498:Tmem64 UTSW 4 15266176 missense probably benign 0.00
Posted On2012-04-20