Incidental Mutation 'IGL02022:Tma16'
ID184017
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: 0.935) question?
Stock #IGL02022
Quality Score
Status
Chromosome8
Chromosomal Location66473118-66486530 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 66486410 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000143972]
Predicted Effect probably null
Transcript: ENSMUST00000026681
SMART Domains Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591

DomainStartEndE-ValueType
Pfam:DUF2962 10 162 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213036
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik T C 5: 146,183,548 Y160C probably damaging Het
Abi3bp T C 16: 56,592,636 S314P probably damaging Het
Abra T C 15: 41,869,406 H88R probably benign Het
Bsn A G 9: 108,110,418 probably benign Het
Chd3 A C 11: 69,361,060 C123G probably damaging Het
Clca3b A C 3: 144,841,410 probably null Het
Cnot7 G T 8: 40,499,345 P190T probably damaging Het
Cps1 A T 1: 67,172,872 probably benign Het
Dennd2d A G 3: 106,499,904 T424A probably benign Het
Dnhd1 C T 7: 105,678,309 R54C probably damaging Het
Efhd1 G A 1: 87,264,612 E55K probably damaging Het
Ep300 T C 15: 81,611,437 probably benign Het
Ezh1 G T 11: 101,199,340 H529Q probably damaging Het
Klhl3 A T 13: 58,051,064 S201T possibly damaging Het
Krt2 A G 15: 101,816,518 F219S probably damaging Het
Lrp1b C T 2: 41,282,160 D751N probably damaging Het
Lyst T A 13: 13,664,044 C1848* probably null Het
Macf1 A G 4: 123,391,049 probably null Het
Med10 T C 13: 69,813,700 probably benign Het
Msh4 T A 3: 153,886,956 T170S probably damaging Het
Olfr665 T C 7: 104,880,934 C76R probably damaging Het
Pelp1 T A 11: 70,406,327 probably benign Het
Prex2 G A 1: 11,297,739 V1595I probably benign Het
Prpf8 C T 11: 75,501,834 R1617* probably null Het
Rabep1 T A 11: 70,934,559 L684Q probably damaging Het
Slc22a4 G A 11: 53,983,609 probably benign Het
Smox T C 2: 131,520,117 F153S probably damaging Het
Unc80 G T 1: 66,626,516 R1814L possibly damaging Het
Vmn2r108 C T 17: 20,471,725 D179N possibly damaging Het
Washc2 A G 6: 116,259,165 E1199G probably benign Het
Zic1 C A 9: 91,362,472 probably null Het
Other mutations in Tma16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:Tma16 APN 8 66480445 missense probably benign 0.00
IGL01321:Tma16 APN 8 66476860 missense probably benign 0.02
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 On2014-05-07