Incidental Mutation 'IGL03241:Timmdc1'
ID414295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timmdc1
Ensembl Gene ENSMUSG00000002846
Gene Nametranslocase of inner mitochondrial membrane domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03241
Quality Score
Status
Chromosome16
Chromosomal Location38498347-38522663 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 38510709 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000002925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002925]
Predicted Effect probably benign
Transcript: ENSMUST00000002925
SMART Domains Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846

DomainStartEndE-ValueType
Pfam:Tim17 74 207 4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117656
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit lethality. Heterozygous mice show an increased mean percentage of CD4 cells in the peripheral blood compared with controls, but no other notable heterozygous phenotype was detected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933417A18Rik G T 13: 34,944,330 A177S probably damaging Het
Abcc12 T A 8: 86,509,807 E1126V possibly damaging Het
Acnat1 A G 4: 49,447,702 V275A probably benign Het
Adamts15 G A 9: 30,904,485 P692S probably damaging Het
Aqp7 A T 4: 41,045,270 probably benign Het
Arhgap26 A T 18: 39,229,917 I413F probably damaging Het
Cdc25a T C 9: 109,884,199 probably null Het
Cdh18 C T 15: 23,226,933 T160I probably benign Het
Cfap206 T C 4: 34,711,553 Y448C probably damaging Het
Clec4a4 T C 6: 122,990,373 S3P probably damaging Het
Dhx38 A T 8: 109,562,656 H37Q possibly damaging Het
F7 A T 8: 13,028,779 E70V probably damaging Het
Nbeal1 G A 1: 60,234,869 E419K probably benign Het
Nbeal1 A T 1: 60,234,868 Q418H possibly damaging Het
Nebl A G 2: 17,393,164 probably null Het
Olfr725 T A 14: 50,035,068 M112L possibly damaging Het
Pfkm T C 15: 98,123,180 V293A probably benign Het
Slc36a3 A G 11: 55,125,108 S407P possibly damaging Het
Slc5a1 T C 5: 33,133,405 V111A probably benign Het
St6galnac5 G T 3: 152,846,586 Q115K probably benign Het
Trim34b T C 7: 104,334,613 probably benign Het
Trim75 A T 8: 64,982,706 I364N probably damaging Het
Vmn1r27 T A 6: 58,215,141 N293Y probably benign Het
Vmn2r88 A G 14: 51,418,373 T689A probably benign Het
Vmn2r97 T C 17: 18,928,176 V111A probably benign Het
Zfp114 C T 7: 24,181,012 T261I probably benign Het
Zfp516 A G 18: 82,987,520 T850A probably benign Het
Other mutations in Timmdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Timmdc1 APN 16 38518385 missense probably benign 0.01
IGL01470:Timmdc1 APN 16 38518540 splice site probably benign
IGL02480:Timmdc1 APN 16 38522401 missense probably null 0.05
R0106:Timmdc1 UTSW 16 38522362 missense probably damaging 1.00
R0579:Timmdc1 UTSW 16 38522383 missense probably benign
R1054:Timmdc1 UTSW 16 38522428 missense probably benign 0.00
R1661:Timmdc1 UTSW 16 38510717 critical splice donor site probably null
R1665:Timmdc1 UTSW 16 38510717 critical splice donor site probably null
R1793:Timmdc1 UTSW 16 38499057 missense possibly damaging 0.89
R2135:Timmdc1 UTSW 16 38498951 missense probably benign 0.01
R6234:Timmdc1 UTSW 16 38518499 nonsense probably null
R7472:Timmdc1 UTSW 16 38505418 nonsense probably null
R8169:Timmdc1 UTSW 16 38510786 missense probably benign 0.10
Posted On2016-08-02