Incidental Mutation 'IGL02480:Timmdc1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timmdc1
Ensembl Gene ENSMUSG00000002846
Gene Nametranslocase of inner mitochondrial membrane domain containing 1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02480
Quality Score
Chromosomal Location38498347-38522663 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38522401 bp
Amino Acid Change Valine to Aspartic acid at position 45 (V45D)
Ref Sequence ENSEMBL: ENSMUSP00000002925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002925] [ENSMUST00000036210]
Predicted Effect probably null
Transcript: ENSMUST00000002925
AA Change: V45D

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: V45D

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

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 60,039,487 I202K probably benign Het
Abcc1 T A 16: 14,404,005 S169T possibly damaging Het
Acsm1 A T 7: 119,656,042 I389F possibly damaging Het
Actn2 T A 13: 12,276,478 Q680L probably benign Het
Ankrd13d G A 19: 4,271,463 P404S possibly damaging Het
Ankrd46 G T 15: 36,483,996 probably benign Het
Arfip1 A G 3: 84,547,932 probably null Het
Asb15 A T 6: 24,570,746 L574F probably damaging Het
Cym T C 3: 107,213,522 I256V probably benign Het
Cyp3a44 C T 5: 145,794,905 E144K possibly damaging Het
Efna1 T C 3: 89,272,595 E109G probably benign Het
Eml1 C A 12: 108,521,696 Q556K probably benign Het
Eml5 T G 12: 98,876,243 T199P probably damaging Het
Etl4 A C 2: 20,788,524 M687L probably damaging Het
Fam199x C A X: 137,050,039 T56K probably damaging Het
Fat4 A G 3: 39,010,430 D4845G probably damaging Het
Gm4987 T A X: 46,456,096 noncoding transcript Het
Gm5828 C A 1: 16,769,542 noncoding transcript Het
Gm5930 T C 14: 44,337,630 Y68C probably benign Het
Gm8994 A T 6: 136,329,215 I225F probably damaging Het
Gucy1a1 C T 3: 82,097,733 V582M probably damaging Het
Haghl G T 17: 25,783,059 A220E probably damaging Het
Hsf5 G A 11: 87,631,657 A359T possibly damaging Het
Igsf9 C A 1: 172,496,913 D799E possibly damaging Het
Igsf9 A T 1: 172,484,778 probably benign Het
Itga1 A T 13: 114,987,648 F703I probably damaging Het
Kcna6 G A 6: 126,738,568 P453S probably damaging Het
Lzic A T 4: 149,486,803 N15I probably damaging Het
Olfr1278 A G 2: 111,292,513 I82V possibly damaging Het
Olfr136 A G 17: 38,335,423 R89G probably benign Het
Olfr338 T G 2: 36,377,492 C239G probably damaging Het
Olfr506 C T 7: 108,612,811 T168I probably benign Het
P4ha1 T C 10: 59,343,752 Y141H probably damaging Het
Paxx G A 2: 25,460,012 P164S probably damaging Het
Pgd A G 4: 149,156,618 V278A probably damaging Het
Pik3c2g A G 6: 139,852,800 Y352C probably damaging Het
Pkd2l2 A G 18: 34,438,790 N614S possibly damaging Het
Poli T C 18: 70,525,406 T86A probably benign Het
Psd2 G A 18: 36,006,083 R528H probably damaging Het
Ptchd4 G T 17: 42,502,540 C444F probably benign Het
Ptpra C A 2: 130,504,261 T114K probably benign Het
Rho A G 6: 115,935,544 N123S probably benign Het
Sdccag3 T A 2: 26,385,120 H342L probably damaging Het
Setd5 A G 6: 113,143,809 D993G probably damaging Het
Slc1a2 T C 2: 102,736,066 L38P probably damaging Het
Slc2a7 G A 4: 150,160,112 V346M possibly damaging Het
Slc43a1 A G 2: 84,839,584 I7V probably benign Het
Spag9 C T 11: 94,108,587 Q691* probably null Het
Tlr8 T A X: 167,244,183 H557L probably damaging 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
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 On2015-04-16