Incidental Mutation 'IGL01137:Timmdc1'
ID52965
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 #IGL01137
Quality Score
Status
Chromosome16
Chromosomal Location38498347-38522663 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38518385 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 114 (H114Q)
Ref Sequence ENSEMBL: ENSMUSP00000002925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002925]
Predicted Effect probably benign
Transcript: ENSMUST00000002925
AA Change: H114Q

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: H114Q

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,394,611 probably null Het
Ankrd11 T C 8: 122,884,336 T2583A probably damaging Het
Anxa7 G A 14: 20,456,580 Q431* probably null Het
Asb15 T A 6: 24,556,522 D5E probably benign Het
Bex1 C A X: 136,214,494 D29Y probably damaging Het
Cadm2 G A 16: 66,815,350 T108I probably damaging Het
Cecr2 T G 6: 120,762,028 L1211V probably damaging Het
Cntn2 T C 1: 132,521,297 probably benign Het
Ctrc C A 4: 141,838,754 V198L possibly damaging Het
Cyp2g1 A G 7: 26,814,259 S208G possibly damaging Het
Ddx46 T A 13: 55,669,717 Y718* probably null Het
Dlec1 T C 9: 119,137,311 I1116T probably damaging Het
Dnajc13 A G 9: 104,160,490 Y2177H probably benign Het
Dpp6 T C 5: 27,714,488 F661S probably damaging Het
Dpy19l2 G A 9: 24,658,562 T365I possibly damaging Het
Flot2 T C 11: 78,049,507 Y27H probably damaging Het
Gsta4 T C 9: 78,205,922 Y95H possibly damaging Het
Kir3dl1 A G X: 136,526,611 T192A probably damaging Het
Llgl1 T A 11: 60,709,999 N640K probably benign Het
Lrch1 C T 14: 74,757,092 V691M probably damaging Het
Myh9 T C 15: 77,769,542 D1302G probably benign Het
Myo18a T G 11: 77,827,829 F935V probably damaging Het
Mypn T C 10: 63,152,854 E464G probably benign Het
Olfr1085 A T 2: 86,657,711 I249N possibly damaging Het
Olfr1453 A T 19: 13,028,030 F100I possibly damaging Het
Olfr209 A C 16: 59,361,972 M82R probably benign Het
Olfr685 A G 7: 105,180,488 V290A probably benign Het
R3hdm1 C T 1: 128,181,875 R39C probably damaging Het
Rps3a3 A T 13: 108,671,132 probably benign Het
Sec24b C T 3: 130,007,444 S401N probably benign Het
Slc22a22 C A 15: 57,254,278 G289V probably damaging Het
Stk33 T C 7: 109,329,568 I246V probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tlcd2 T C 11: 75,469,511 Y127H probably damaging Het
Tnfrsf11a G A 1: 105,809,422 D85N possibly damaging Het
Trbc2 T C 6: 41,547,817 probably benign Het
Unc13b G A 4: 43,091,291 R39H probably damaging Het
Vwa8 T C 14: 79,103,647 L1521P probably damaging Het
Zbtb17 T A 4: 141,466,367 C607* probably null Het
Other mutations in Timmdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Timmdc1 APN 16 38518540 splice site probably benign
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 On2013-06-21