Incidental Mutation 'IGL01470:Timmdc1'
ID88260
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 #IGL01470
Quality Score
Status
Chromosome16
Chromosomal Location38498347-38522663 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 38518540 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147543
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,660,457 T1184A possibly damaging Het
A2ml1 A G 6: 128,580,412 I106T probably damaging Het
Asic4 C T 1: 75,450,866 A12V probably damaging Het
Cacna1d A T 14: 30,099,142 V1139D probably damaging Het
Edc4 T C 8: 105,889,981 probably benign Het
Eif4h A T 5: 134,625,539 probably null Het
Exog C A 9: 119,462,526 Q290K probably damaging Het
Fam83c A T 2: 155,834,808 I14K possibly damaging Het
Fes A T 7: 80,383,273 Y268N probably benign Het
Fhod1 A G 8: 105,329,649 L1144P probably damaging Het
Frem3 C T 8: 80,614,315 T1079I probably damaging Het
Gbp10 A G 5: 105,221,114 probably benign Het
Herc1 T C 9: 66,497,636 V4496A possibly damaging Het
Lamb1 A G 12: 31,300,262 R729G possibly damaging Het
Lifr T A 15: 7,175,666 C461* probably null Het
Lypd6 T C 2: 50,188,783 V97A probably benign Het
Map3k5 A G 10: 20,118,187 E973G possibly damaging Het
Mep1b A T 18: 21,097,467 N692I probably benign Het
Mrpl15 A G 1: 4,776,531 V274A probably damaging Het
Naaa A G 5: 92,263,648 I264T probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1047 T C 2: 86,228,284 N229S probably benign Het
Olfr1265 T C 2: 90,037,818 W300R possibly damaging Het
Olfr1443 T C 19: 12,680,671 S188P possibly damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr885 A T 9: 38,062,004 H228L possibly damaging Het
Phc2 C T 4: 128,723,110 T392I probably benign Het
Ptprg G A 14: 12,213,702 W248* probably null Het
Pzp T A 6: 128,521,124 E243D probably benign Het
Rbm33 T A 5: 28,387,848 L542Q probably damaging Het
Recql4 G A 15: 76,708,944 T229I probably benign Het
Ssbp3 T C 4: 107,037,658 probably benign Het
Tfap2d A T 1: 19,148,396 Q373L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vps13c T C 9: 67,912,927 probably benign Het
Zfp551 A G 7: 12,418,541 probably null Het
Other mutations in Timmdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Timmdc1 APN 16 38518385 missense probably benign 0.01
IGL02480:Timmdc1 APN 16 38522401 missense probably null 0.05
IGL03241:Timmdc1 APN 16 38510709 splice site probably benign
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 On2013-11-18