Incidental Mutation 'IGL01544:Timm44'
ID 90278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timm44
Ensembl Gene ENSMUSG00000002949
Gene Name translocase of inner mitochondrial membrane 44
Synonyms D8Ertd118e, Mimt44, 0710005E20Rik, Tim44
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # IGL01544
Quality Score
Chromosome 8
Chromosomal Location 4309731-4325905 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to T at 4325888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029]
AlphaFold O35857
Predicted Effect probably benign
Transcript: ENSMUST00000003029
SMART Domains Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949

coiled coil region 60 117 N/A INTRINSIC
Tim44 296 445 9.67e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161143
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 G A 18: 38,123,889 (GRCm39) R377C probably damaging Het
Bbx C A 16: 50,095,140 (GRCm39) E59* probably null Het
Cep120 C T 18: 53,819,033 (GRCm39) R886H probably benign Het
Cep350 C A 1: 155,828,933 (GRCm39) V324L probably damaging Het
Cry1 T A 10: 84,982,360 (GRCm39) K329* probably null Het
Dhtkd1 T C 2: 5,918,342 (GRCm39) N627S probably benign Het
Dpp8 A T 9: 64,962,270 (GRCm39) T437S probably benign Het
Elovl1 G A 4: 118,288,107 (GRCm39) probably null Het
Heca A G 10: 17,791,715 (GRCm39) Y114H probably damaging Het
Hrh4 A G 18: 13,148,950 (GRCm39) N104S probably benign Het
Ift80 T A 3: 68,898,115 (GRCm39) K73N probably benign Het
Ina T C 19: 47,003,948 (GRCm39) V252A possibly damaging Het
Klhl36 A G 8: 120,596,755 (GRCm39) E152G possibly damaging Het
Lamp5 T A 2: 135,910,990 (GRCm39) L241Q probably damaging Het
Lrp4 G A 2: 91,307,896 (GRCm39) R447H probably damaging Het
Mmp24 G A 2: 155,641,807 (GRCm39) G212R probably damaging Het
Mpp3 A G 11: 101,909,485 (GRCm39) V191A possibly damaging Het
Mtmr4 A G 11: 87,488,437 (GRCm39) probably benign Het
Mynn C A 3: 30,661,854 (GRCm39) S312* probably null Het
Neb T A 2: 52,182,917 (GRCm39) I1010F possibly damaging Het
Nes T C 3: 87,885,271 (GRCm39) S1177P possibly damaging Het
Noct T C 3: 51,155,469 (GRCm39) V79A probably damaging Het
Rad1 A G 15: 10,490,465 (GRCm39) D114G probably damaging Het
Slc26a9 T C 1: 131,687,233 (GRCm39) probably null Het
Sqor G A 2: 122,634,266 (GRCm39) probably benign Het
Sspo G T 6: 48,467,953 (GRCm39) W4309L probably damaging Het
Thoc7 A C 14: 13,953,435 (GRCm38) Y72D probably damaging Het
Thra A G 11: 98,647,754 (GRCm39) I43V possibly damaging Het
Trmo C T 4: 46,386,169 (GRCm39) G119R probably damaging Het
Trpc4 T C 3: 54,209,567 (GRCm39) M644T probably damaging Het
Wdr72 C T 9: 74,056,007 (GRCm39) L300F probably damaging Het
Wrn T C 8: 33,814,554 (GRCm39) T54A probably benign Het
Other mutations in Timm44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Timm44 APN 8 4,316,860 (GRCm39) missense probably benign 0.00
IGL02336:Timm44 APN 8 4,317,692 (GRCm39) missense probably damaging 1.00
lassie UTSW 8 4,310,621 (GRCm39) missense probably damaging 1.00
Togo UTSW 8 4,320,019 (GRCm39) missense probably benign 0.10
R0505:Timm44 UTSW 8 4,310,532 (GRCm39) nonsense probably null
R0883:Timm44 UTSW 8 4,316,592 (GRCm39) missense probably benign
R1842:Timm44 UTSW 8 4,310,510 (GRCm39) critical splice donor site probably null
R1965:Timm44 UTSW 8 4,310,603 (GRCm39) missense possibly damaging 0.65
R2243:Timm44 UTSW 8 4,317,871 (GRCm39) missense possibly damaging 0.91
R2318:Timm44 UTSW 8 4,318,307 (GRCm39) missense probably benign 0.18
R2518:Timm44 UTSW 8 4,316,588 (GRCm39) missense probably null 1.00
R4049:Timm44 UTSW 8 4,310,561 (GRCm39) missense probably benign 0.00
R4489:Timm44 UTSW 8 4,316,654 (GRCm39) missense possibly damaging 0.48
R4803:Timm44 UTSW 8 4,317,932 (GRCm39) missense probably damaging 0.99
R5001:Timm44 UTSW 8 4,325,886 (GRCm39) start codon destroyed probably null 0.98
R5260:Timm44 UTSW 8 4,325,919 (GRCm39) splice site probably null
R5335:Timm44 UTSW 8 4,316,814 (GRCm39) missense probably damaging 1.00
R5502:Timm44 UTSW 8 4,319,992 (GRCm39) missense possibly damaging 0.93
R5602:Timm44 UTSW 8 4,316,769 (GRCm39) critical splice donor site probably null
R5700:Timm44 UTSW 8 4,324,171 (GRCm39) missense probably damaging 1.00
R6004:Timm44 UTSW 8 4,317,747 (GRCm39) missense probably benign 0.00
R6186:Timm44 UTSW 8 4,316,824 (GRCm39) missense probably damaging 1.00
R6524:Timm44 UTSW 8 4,317,988 (GRCm39) missense possibly damaging 0.68
R6823:Timm44 UTSW 8 4,317,282 (GRCm39) missense probably damaging 1.00
R6996:Timm44 UTSW 8 4,316,611 (GRCm39) missense possibly damaging 0.87
R7183:Timm44 UTSW 8 4,317,311 (GRCm39) missense probably damaging 0.98
R7844:Timm44 UTSW 8 4,319,976 (GRCm39) missense possibly damaging 0.71
R8209:Timm44 UTSW 8 4,316,844 (GRCm39) missense probably benign 0.02
R8532:Timm44 UTSW 8 4,310,549 (GRCm39) missense possibly damaging 0.63
R8785:Timm44 UTSW 8 4,320,019 (GRCm39) missense probably benign 0.10
R9003:Timm44 UTSW 8 4,324,204 (GRCm39) missense possibly damaging 0.89
R9262:Timm44 UTSW 8 4,310,621 (GRCm39) missense probably damaging 1.00
R9537:Timm44 UTSW 8 4,310,576 (GRCm39) missense possibly damaging 0.90
R9759:Timm44 UTSW 8 4,317,707 (GRCm39) nonsense probably null
Z1088:Timm44 UTSW 8 4,318,004 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03