Incidental Mutation 'IGL01321:Tma16'
ID74038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tma16
Ensembl Gene ENSMUSG00000025591
Gene Nametranslation machinery associated 16
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.951) question?
Stock #IGL01321
Quality Score
Status
Chromosome8
Chromosomal Location66473118-66486530 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 66476860 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 161 (L161F)
Ref Sequence ENSEMBL: ENSMUSP00000026681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000143972]
Predicted Effect probably benign
Transcript: ENSMUST00000026681
AA Change: L161F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591
AA Change: L161F

DomainStartEndE-ValueType
Pfam:DUF2962 10 162 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143972
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009B22Rik A T 11: 51,685,843 V76D probably damaging Het
Acnat2 A G 4: 49,380,269 S370P probably damaging Het
Adamts5 T C 16: 85,899,475 R265G probably benign Het
Cd2ap T C 17: 42,845,389 S86G possibly damaging Het
Cers3 A C 7: 66,786,003 probably benign Het
Dnaaf2 G T 12: 69,196,602 P562T probably damaging Het
Dnajc21 A C 15: 10,447,102 V520G probably benign Het
Dpcr1 A T 17: 35,636,866 N490K probably damaging Het
Dync1h1 A G 12: 110,625,607 probably benign Het
Extl3 T C 14: 65,066,762 N733D probably benign Het
Gm5499 T A 17: 87,078,500 noncoding transcript Het
Gstm6 T C 3: 107,941,063 Q180R probably benign Het
Hdlbp G A 1: 93,423,802 R460W probably damaging Het
Ift81 T C 5: 122,610,968 D40G probably damaging Het
Igsf3 T A 3: 101,427,022 probably benign Het
Kcnb2 A G 1: 15,312,923 T158A probably benign Het
Lrrc59 C T 11: 94,638,600 R167* probably null Het
Macf1 A G 4: 123,440,774 C4397R probably damaging Het
Morc1 T C 16: 48,582,462 S583P probably benign Het
Nipsnap2 T A 5: 129,757,141 *282R probably null Het
Olfr1160 A T 2: 88,006,245 C178S probably damaging Het
Olfr703 T C 7: 106,844,749 L46P probably damaging Het
Parp14 T A 16: 35,856,559 Q1013L probably benign Het
Pdzd8 A C 19: 59,301,529 S480A probably benign Het
Piezo1 A T 8: 122,487,600 S1609R probably damaging Het
Pkp4 G A 2: 59,350,627 probably null Het
Plpp2 A T 10: 79,527,493 V106D probably damaging Het
Rimbp2 T C 5: 128,786,752 Y724C probably benign Het
Rpgrip1l A T 8: 91,260,873 L852* probably null Het
Samd9l T A 6: 3,376,259 D334V probably benign Het
Sipa1l2 G A 8: 125,491,518 T360M probably damaging Het
Slc30a2 A T 4: 134,343,300 D5V probably damaging Het
Spata31 T C 13: 64,921,754 I572T probably benign Het
Trim69 A T 2: 122,173,284 E238V possibly damaging Het
Zfhx4 A G 3: 5,242,328 T205A probably benign Het
Other mutations in Tma16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Tma16 APN 8 66480445 missense probably benign 0.00
IGL02022:Tma16 APN 8 66486410 critical splice donor site probably null
R0064:Tma16 UTSW 8 66476805 missense possibly damaging 0.46
R3401:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R3402:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R3403:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R4399:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R4402:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R4421:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R4453:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R4493:Tma16 UTSW 8 66484171 critical splice acceptor site probably null
R4856:Tma16 UTSW 8 66481477 missense probably damaging 1.00
R4886:Tma16 UTSW 8 66481477 missense probably damaging 1.00
R5527:Tma16 UTSW 8 66484124 missense possibly damaging 0.94
R6312:Tma16 UTSW 8 66481466 missense probably damaging 0.99
Posted On2013-10-07