Incidental Mutation 'R0106:Timmdc1'
ID 63359
Institutional Source Beutler Lab
Gene Symbol Timmdc1
Ensembl Gene ENSMUSG00000002846
Gene Name translocase of inner mitochondrial membrane domain containing 1
Synonyms 2810021C21Rik, 4930455C21Rik
MMRRC Submission 038392-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0106 (G1)
Quality Score 133
Status Validated
Chromosome 16
Chromosomal Location 38318709-38343025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 38342724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 58 (L58R)
Ref Sequence ENSEMBL: ENSMUSP00000002925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002925] [ENSMUST00000036210]
AlphaFold Q8BUY5
Predicted Effect probably damaging
Transcript: ENSMUST00000002925
AA Change: L58R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: L58R

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
Meta Mutation Damage Score 0.7577 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (84/84)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik A T 12: 112,381,628 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,221,123 (GRCm39) N276S possibly damaging Het
Arhgef25 A G 10: 127,019,879 (GRCm39) probably null Het
Asic4 T C 1: 75,427,771 (GRCm39) V99A probably benign Het
Aspm C A 1: 139,404,614 (GRCm39) Q1315K probably benign Het
B3galnt2 T C 13: 14,170,378 (GRCm39) S243P probably benign Het
Brf1 A G 12: 112,937,083 (GRCm39) probably benign Het
Card19 A C 13: 49,361,621 (GRCm39) D3E probably benign Het
Chd6 A G 2: 160,809,822 (GRCm39) F1480L probably damaging Het
Ckap5 T C 2: 91,408,550 (GRCm39) I915T possibly damaging Het
Ckap5 T A 2: 91,446,185 (GRCm39) I1836N probably damaging Het
Cpb1 T C 3: 20,320,697 (GRCm39) probably null Het
Cramp1 A G 17: 25,191,350 (GRCm39) V1037A probably benign Het
Cspg5 C A 9: 110,075,600 (GRCm39) P112Q probably damaging Het
Cyp2g1 T A 7: 26,513,607 (GRCm39) I182N probably damaging Het
Dscc1 C A 15: 54,946,966 (GRCm39) C253F probably benign Het
Dysf C A 6: 84,090,318 (GRCm39) F956L probably benign Het
Ephb6 T C 6: 41,596,528 (GRCm39) probably benign Het
Firrm T C 1: 163,810,380 (GRCm39) probably benign Het
Fkbp6 C T 5: 135,368,858 (GRCm39) R234Q probably benign Het
Gda T C 19: 21,374,920 (GRCm39) D332G probably benign Het
Ggt7 C T 2: 155,336,813 (GRCm39) A560T possibly damaging Het
Glis3 A T 19: 28,509,268 (GRCm39) S239T possibly damaging Het
Gm10845 T A 14: 80,100,644 (GRCm39) noncoding transcript Het
H2-M5 A G 17: 37,300,034 (GRCm39) F47L possibly damaging Het
Hsdl1 T A 8: 120,292,517 (GRCm39) S254C probably damaging Het
Igsf6 T A 7: 120,673,677 (GRCm39) I18F probably benign Het
Immt A G 6: 71,828,828 (GRCm39) S128G probably benign Het
Isy1 G A 6: 87,796,167 (GRCm39) R257W probably damaging Het
Kif13a G T 13: 46,978,823 (GRCm39) probably benign Het
Kif14 T C 1: 136,407,662 (GRCm39) probably benign Het
L2hgdh A T 12: 69,752,563 (GRCm39) Y239* probably null Het
Lama3 T C 18: 12,537,039 (GRCm39) V228A probably damaging Het
Lamp1 A G 8: 13,224,550 (GRCm39) T405A probably damaging Het
Lpin1 A T 12: 16,590,980 (GRCm39) N817K possibly damaging Het
Luzp1 A G 4: 136,269,996 (GRCm39) K740E probably damaging Het
Mapk12 T C 15: 89,017,187 (GRCm39) probably benign Het
Mdga2 A T 12: 66,763,480 (GRCm39) N205K probably damaging Het
Myo1a A G 10: 127,555,749 (GRCm39) I913V probably benign Het
Nat10 A G 2: 103,587,550 (GRCm39) V55A probably damaging Het
Nlrp10 T C 7: 108,524,529 (GRCm39) E317G possibly damaging Het
Nomo1 T C 7: 45,687,056 (GRCm39) I72T probably damaging Het
Or5b98 A G 19: 12,931,720 (GRCm39) I256V probably benign Het
Or8d6 GC G 9: 39,854,119 (GRCm39) probably null Het
Pappa2 C T 1: 158,542,547 (GRCm39) C1780Y probably damaging Het
Pgm2l1 A G 7: 99,899,580 (GRCm39) M65V probably benign Het
Plec C T 15: 76,060,518 (GRCm39) E3162K probably damaging Het
Pnisr T C 4: 21,874,617 (GRCm39) probably benign Het
Pop7 A G 5: 137,499,911 (GRCm39) *141Q probably null Het
Prss34 A T 17: 25,517,700 (GRCm39) D25V probably damaging Het
Ptpn1 T C 2: 167,818,338 (GRCm39) probably benign Het
Pygb A G 2: 150,648,123 (GRCm39) D119G probably benign Het
Racgap1 T C 15: 99,540,839 (GRCm39) T4A possibly damaging Het
Rap1gap2 A G 11: 74,326,570 (GRCm39) C166R probably benign Het
Rbm28 C A 6: 29,127,802 (GRCm39) V705L probably benign Het
Rgs1 C T 1: 144,124,287 (GRCm39) V50M probably benign Het
Rgs12 C T 5: 35,124,008 (GRCm39) T597I probably benign Het
Ros1 T C 10: 52,018,363 (GRCm39) N765S possibly damaging Het
Ruvbl1 A G 6: 88,450,182 (GRCm39) R58G probably damaging Het
Scube2 A G 7: 109,446,115 (GRCm39) probably benign Het
Serpinb10 T A 1: 107,474,474 (GRCm39) L212Q probably damaging Het
Slc6a7 A G 18: 61,135,295 (GRCm39) V411A probably benign Het
Slco1a6 A T 6: 142,103,116 (GRCm39) probably benign Het
Smc1b A T 15: 84,955,020 (GRCm39) D1077E probably damaging Het
Srek1 G A 13: 103,880,131 (GRCm39) H476Y unknown Het
Strn3 A G 12: 51,668,571 (GRCm39) V673A probably benign Het
Tepsin T C 11: 119,982,637 (GRCm39) probably null Het
Tmem132c T C 5: 127,631,733 (GRCm39) V664A possibly damaging Het
Tmem241 A T 18: 12,239,066 (GRCm39) probably benign Het
Tmprss15 T C 16: 78,800,277 (GRCm39) D602G probably damaging Het
Trbv15 T C 6: 41,118,199 (GRCm39) probably benign Het
Wdr70 A T 15: 8,049,068 (GRCm39) probably null Het
Other mutations in Timmdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Timmdc1 APN 16 38,338,747 (GRCm39) missense probably benign 0.01
IGL01470:Timmdc1 APN 16 38,338,902 (GRCm39) splice site probably benign
IGL02480:Timmdc1 APN 16 38,342,763 (GRCm39) missense probably null 0.05
IGL03241:Timmdc1 APN 16 38,331,071 (GRCm39) splice site probably benign
R0579:Timmdc1 UTSW 16 38,342,745 (GRCm39) missense probably benign
R1054:Timmdc1 UTSW 16 38,342,790 (GRCm39) missense probably benign 0.00
R1661:Timmdc1 UTSW 16 38,331,079 (GRCm39) critical splice donor site probably null
R1665:Timmdc1 UTSW 16 38,331,079 (GRCm39) critical splice donor site probably null
R1793:Timmdc1 UTSW 16 38,319,419 (GRCm39) missense possibly damaging 0.89
R2135:Timmdc1 UTSW 16 38,319,313 (GRCm39) missense probably benign 0.01
R6234:Timmdc1 UTSW 16 38,338,861 (GRCm39) nonsense probably null
R7472:Timmdc1 UTSW 16 38,325,780 (GRCm39) nonsense probably null
R8169:Timmdc1 UTSW 16 38,331,148 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- CATGTCAACCAGGTCGGACACTATC -3'
(R):5'- CAGTTCCAGTTTCTACGTCCCGAG -3'

Sequencing Primer
(F):5'- CACTATCCGGGCAGAGAGAAC -3'
(R):5'- AGGTTCAGTGTCCCCCAAC -3'
Posted On 2013-07-30