Incidental Mutation 'IGL02154:Tmem51'
ID282152
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem51
Ensembl Gene ENSMUSG00000040616
Gene Nametransmembrane protein 51
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02154
Quality Score
Status
Chromosome4
Chromosomal Location142030992-142084304 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 142031778 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 220 (N220D)
Ref Sequence ENSEMBL: ENSMUSP00000042919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036572]
Predicted Effect probably damaging
Transcript: ENSMUST00000036572
AA Change: N220D

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042919
Gene: ENSMUSG00000040616
AA Change: N220D

DomainStartEndE-ValueType
Pfam:TMEM51 7 236 5.7e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126231
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik G A 14: 49,772,942 T436I possibly damaging Het
Armc3 G A 2: 19,286,137 probably null Het
AW551984 G A 9: 39,589,102 R787C possibly damaging Het
Cadm1 A T 9: 47,813,903 I321L probably benign Het
Cfap57 A G 4: 118,613,017 L222P probably damaging Het
Cox20 A G 1: 178,322,554 I98V probably benign Het
Dmrta1 A G 4: 89,691,913 N370S probably benign Het
Dnah17 A G 11: 118,124,261 F386L probably benign Het
Fam135b T C 15: 71,448,710 I1323V probably benign Het
Fndc3b A G 3: 27,538,117 S211P probably damaging Het
Galnt10 T G 11: 57,784,705 L597V probably damaging Het
Gtf2e2 T C 8: 33,755,961 probably null Het
Inpp4b T A 8: 81,969,501 probably benign Het
Lacc1 A G 14: 77,033,287 V269A probably benign Het
Lrmp T G 6: 145,138,241 M44R possibly damaging Het
Mdn1 A G 4: 32,740,395 D3750G probably benign Het
Mme A T 3: 63,343,555 Q339L probably benign Het
Mmp3 A T 9: 7,453,662 I428L probably benign Het
Myrf A T 19: 10,216,118 I558N probably damaging Het
Olfr671 C T 7: 104,975,981 M1I probably null Het
Phb A G 11: 95,675,171 I94V possibly damaging Het
Prg4 T A 1: 150,454,862 probably benign Het
Sirpb1a T C 3: 15,410,444 T344A probably damaging Het
Skap2 T C 6: 52,012,328 probably benign Het
Slc29a1 A G 17: 45,586,163 I399T probably damaging Het
Sorl1 C T 9: 42,004,034 V1300I probably benign Het
Tas2r117 T C 6: 132,803,715 V272A probably benign Het
Tctn2 C A 5: 124,608,561 noncoding transcript Het
Trak2 T C 1: 58,908,729 D584G probably damaging Het
Vmn1r78 A G 7: 12,152,545 I28V probably benign Het
Vmn2r95 A C 17: 18,451,986 I662L probably benign Het
Vwa8 C A 14: 78,849,293 R4S possibly damaging Het
Other mutations in Tmem51
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0089:Tmem51 UTSW 4 142031925 missense probably benign 0.00
R3051:Tmem51 UTSW 4 142032024 missense probably damaging 0.96
R3104:Tmem51 UTSW 4 142037724 missense probably damaging 0.99
R3106:Tmem51 UTSW 4 142037724 missense probably damaging 0.99
R3873:Tmem51 UTSW 4 142031748 missense probably damaging 1.00
R3874:Tmem51 UTSW 4 142031748 missense probably damaging 1.00
R4393:Tmem51 UTSW 4 142031931 missense probably benign 0.36
R5847:Tmem51 UTSW 4 142032035 missense probably damaging 0.98
R7278:Tmem51 UTSW 4 142037685 frame shift probably null
R7283:Tmem51 UTSW 4 142031783 missense probably damaging 0.99
R7318:Tmem51 UTSW 4 142037685 frame shift probably null
R7615:Tmem51 UTSW 4 142037564 missense probably damaging 1.00
R8057:Tmem51 UTSW 4 142031748 missense probably damaging 1.00
X0025:Tmem51 UTSW 4 142031711 missense probably benign 0.32
Posted On2015-04-16