Incidental Mutation 'IGL01321:Tma16'
ID 74038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tma16
Ensembl Gene ENSMUSG00000025591
Gene Name translation machinery associated 16
Synonyms 1810029B16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # IGL01321
Quality Score
Status
Chromosome 8
Chromosomal Location 66928995-66939182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66929512 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CR02
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
Acnat2 A G 4: 49,380,269 (GRCm39) S370P probably damaging Het
Adamts5 T C 16: 85,696,363 (GRCm39) R265G probably benign Het
Cd2ap T C 17: 43,156,280 (GRCm39) S86G possibly damaging Het
Cers3 A C 7: 66,435,751 (GRCm39) probably benign Het
Dnaaf2 G T 12: 69,243,376 (GRCm39) P562T probably damaging Het
Dnajc21 A C 15: 10,447,188 (GRCm39) V520G probably benign Het
Dync1h1 A G 12: 110,592,041 (GRCm39) probably benign Het
Extl3 T C 14: 65,304,211 (GRCm39) N733D probably benign Het
Gm5499 T A 17: 87,385,928 (GRCm39) noncoding transcript Het
Gstm6 T C 3: 107,848,379 (GRCm39) Q180R probably benign Het
Hdlbp G A 1: 93,351,524 (GRCm39) R460W probably damaging Het
Ift81 T C 5: 122,749,031 (GRCm39) D40G probably damaging Het
Igsf3 T A 3: 101,334,338 (GRCm39) probably benign Het
Kcnb2 A G 1: 15,383,147 (GRCm39) T158A probably benign Het
Lrrc59 C T 11: 94,529,426 (GRCm39) R167* probably null Het
Macf1 A G 4: 123,334,567 (GRCm39) C4397R probably damaging Het
Morc1 T C 16: 48,402,825 (GRCm39) S583P probably benign Het
Mucl3 A T 17: 35,947,758 (GRCm39) N490K probably damaging Het
Nipsnap2 T A 5: 129,834,205 (GRCm39) *282R probably null Het
Or2ag19 T C 7: 106,443,956 (GRCm39) L46P probably damaging Het
Or9m1b A T 2: 87,836,589 (GRCm39) C178S probably damaging Het
Parp14 T A 16: 35,676,929 (GRCm39) Q1013L probably benign Het
Pdzd8 A C 19: 59,289,961 (GRCm39) S480A probably benign Het
Piezo1 A T 8: 123,214,339 (GRCm39) S1609R probably damaging Het
Pkp4 G A 2: 59,180,971 (GRCm39) probably null Het
Plpp2 A T 10: 79,363,327 (GRCm39) V106D probably damaging Het
Rimbp2 T C 5: 128,863,816 (GRCm39) Y724C probably benign Het
Rpgrip1l A T 8: 91,987,501 (GRCm39) L852* probably null Het
Samd9l T A 6: 3,376,259 (GRCm39) D334V probably benign Het
Sipa1l2 G A 8: 126,218,257 (GRCm39) T360M probably damaging Het
Slc30a2 A T 4: 134,070,611 (GRCm39) D5V probably damaging Het
Spata31 T C 13: 65,069,568 (GRCm39) I572T probably benign Het
Trappc2b A T 11: 51,576,670 (GRCm39) V76D probably damaging Het
Trim69 A T 2: 122,003,765 (GRCm39) E238V possibly damaging Het
Zfhx4 A G 3: 5,307,388 (GRCm39) T205A probably benign Het
Other mutations in Tma16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Tma16 APN 8 66,933,097 (GRCm39) missense probably benign 0.00
IGL02022:Tma16 APN 8 66,939,062 (GRCm39) critical splice donor site probably null
R0064:Tma16 UTSW 8 66,929,457 (GRCm39) missense possibly damaging 0.46
R3401:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R3402:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R3403:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R4399:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R4402:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R4421:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R4453:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R4493:Tma16 UTSW 8 66,936,823 (GRCm39) critical splice acceptor site probably null
R4856:Tma16 UTSW 8 66,934,129 (GRCm39) missense probably damaging 1.00
R4886:Tma16 UTSW 8 66,934,129 (GRCm39) missense probably damaging 1.00
R5527:Tma16 UTSW 8 66,936,776 (GRCm39) missense possibly damaging 0.94
R6312:Tma16 UTSW 8 66,934,118 (GRCm39) missense probably damaging 0.99
R8437:Tma16 UTSW 8 66,929,448 (GRCm39) missense possibly damaging 0.81
R9229:Tma16 UTSW 8 66,936,779 (GRCm39) missense probably benign 0.01
Posted On 2013-10-07