Incidental Mutation 'R1054:Timmdc1'
ID94227
Institutional Source Beutler Lab
Gene Symbol Timmdc1
Ensembl Gene ENSMUSG00000002846
Gene Nametranslocase of inner mitochondrial membrane domain containing 1
Synonyms
MMRRC Submission 039144-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1054 (G1)
Quality Score124
Status Not validated
Chromosome16
Chromosomal Location38498347-38522663 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 38522428 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 36 (V36A)
Ref Sequence ENSEMBL: ENSMUSP00000002925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002925] [ENSMUST00000036210]
Predicted Effect probably benign
Transcript: ENSMUST00000002925
AA Change: V36A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: V36A

DomainStartEndE-ValueType
Pfam:Tim17 74 207 4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000036210
SMART Domains Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CAP10 121 373 6.69e-102 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153187
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,751,559 T159A probably benign Het
Arhgef38 T C 3: 133,116,465 Y763C probably damaging Het
Arv1 T A 8: 124,731,872 F245Y probably benign Het
Ccdc175 A G 12: 72,178,544 I113T possibly damaging Het
Cdc42bpb A T 12: 111,313,353 M932K probably benign Het
Cdh15 T C 8: 122,864,337 F442L possibly damaging Het
Col28a1 C T 6: 8,175,534 D105N probably damaging Het
Cpne4 A G 9: 105,022,401 T428A probably benign Het
Cramp1l T A 17: 24,983,177 I444F probably damaging Het
Dhx32 T A 7: 133,725,272 K360M probably damaging Het
Dna2 T A 10: 62,963,823 C669S possibly damaging Het
Dusp8 ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC 7: 142,082,067 probably benign Het
Eif3f G A 7: 108,937,817 probably null Het
Elmod1 T C 9: 53,912,774 D310G probably benign Het
Fam105a T C 15: 27,664,549 R79G probably damaging Het
Fn1 A G 1: 71,586,214 *2272Q probably null Het
Gm12800 A G 4: 101,909,164 E15G probably benign Het
Gm8765 T C 13: 50,702,396 V690A probably benign Het
Gnat1 A G 9: 107,677,439 S76P probably damaging Het
Gtf2f2 T C 14: 75,995,445 T94A probably benign Het
Hacd4 A T 4: 88,423,027 W152R probably damaging Het
Kcnh8 A G 17: 52,803,484 Y241C probably damaging Het
Lepr T C 4: 101,782,596 I753T probably damaging Het
Med12l C T 3: 59,248,651 H1162Y probably damaging Het
Med25 C T 7: 44,880,380 A485T probably benign Het
Mup5 A T 4: 61,832,634 S145R probably benign Het
Myo1g A G 11: 6,518,987 V105A probably damaging Het
Npc2 A G 12: 84,760,718 probably null Het
Olfr414 A G 1: 174,430,853 T142A probably benign Het
Olfr648 A G 7: 104,180,291 I39T probably benign Het
Pdzd2 A G 15: 12,371,639 S2557P probably damaging Het
Pop1 T C 15: 34,509,809 V353A probably benign Het
Pou3f2 A G 4: 22,487,536 V199A possibly damaging Het
Ptprm A T 17: 67,042,318 N43K probably damaging Het
Qrsl1 C T 10: 43,882,081 D339N probably damaging Het
Rpl13-ps3 C A 14: 58,893,945 noncoding transcript Het
Sdk2 C T 11: 113,838,646 silent Het
Sdr16c6 A G 4: 4,069,908 V144A probably damaging Het
Spata31d1b C A 13: 59,717,518 H827N probably damaging Het
Taf4b T A 18: 14,821,473 H535Q probably benign Het
Tmem74b C T 2: 151,706,419 A22V probably benign Het
Txnrd3 T A 6: 89,650,561 Y65* probably null Het
Vmn1r200 T A 13: 22,395,454 S133R probably damaging Het
Vwf G A 6: 125,590,227 C311Y probably damaging Het
Wipf2 G A 11: 98,896,315 R390H possibly damaging Het
Zfp282 T A 6: 47,904,599 S407T 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
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
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
Predicted Primers PCR Primer
(F):5'- CATGTCAACCAGGTCGGACACTATC -3'
(R):5'- CAGTTCCAGTTTCTACGTCCCGAG -3'

Sequencing Primer
(F):5'- AGAACTTTCAGCGTCGCAG -3'
(R):5'- AGGTTCAGTGTCCCCCAAC -3'
Posted On2014-01-05