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 Mimt44, 0710005E20Rik, Tim44, D8Ertd118e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01544
Quality Score
Status
Chromosome 8
Chromosomal Location 4259731-4275913 bp(-) (GRCm38)
Type of Mutation utr 5 prime
DNA Base Change (assembly) G to T at 4275888 bp (GRCm38)
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

DomainStartEndE-ValueType
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: 37,990,836 R377C probably damaging Het
Bbx C A 16: 50,274,777 E59* probably null Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep350 C A 1: 155,953,187 V324L probably damaging Het
Cry1 T A 10: 85,146,496 K329* probably null Het
Dhtkd1 T C 2: 5,913,531 N627S probably benign Het
Dpp8 A T 9: 65,054,988 T437S probably benign Het
Elovl1 G A 4: 118,430,910 probably null Het
Heca A G 10: 17,915,967 Y114H probably damaging Het
Hrh4 A G 18: 13,015,893 N104S probably benign Het
Ift80 T A 3: 68,990,782 K73N probably benign Het
Ina T C 19: 47,015,509 V252A possibly damaging Het
Klhl36 A G 8: 119,870,016 E152G possibly damaging Het
Lamp5 T A 2: 136,069,070 L241Q probably damaging Het
Lrp4 G A 2: 91,477,551 R447H probably damaging Het
Mmp24 G A 2: 155,799,887 G212R probably damaging Het
Mpp3 A G 11: 102,018,659 V191A possibly damaging Het
Mtmr4 A G 11: 87,597,611 probably benign Het
Mynn C A 3: 30,607,705 S312* probably null Het
Neb T A 2: 52,292,905 I1010F possibly damaging Het
Nes T C 3: 87,977,964 S1177P possibly damaging Het
Noct T C 3: 51,248,048 V79A probably damaging Het
Rad1 A G 15: 10,490,379 D114G probably damaging Het
Slc26a9 T C 1: 131,759,495 probably null Het
Sqor G A 2: 122,792,346 probably benign Het
Sspo G T 6: 48,491,019 W4309L probably damaging Het
Thoc7 A C 14: 13,953,435 Y72D probably damaging Het
Thra A G 11: 98,756,928 I43V possibly damaging Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Trpc4 T C 3: 54,302,146 M644T probably damaging Het
Wdr72 C T 9: 74,148,725 L300F probably damaging Het
Wrn T C 8: 33,324,526 T54A probably benign Het
Other mutations in Timm44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Timm44 APN 8 4266860 missense probably benign 0.00
IGL02336:Timm44 APN 8 4267692 missense probably damaging 1.00
lassie UTSW 8 4260621 missense probably damaging 1.00
Togo UTSW 8 4270019 missense probably benign 0.10
R0505:Timm44 UTSW 8 4260532 nonsense probably null
R0883:Timm44 UTSW 8 4266592 missense probably benign
R1842:Timm44 UTSW 8 4260510 critical splice donor site probably null
R1965:Timm44 UTSW 8 4260603 missense possibly damaging 0.65
R2243:Timm44 UTSW 8 4267871 missense possibly damaging 0.91
R2318:Timm44 UTSW 8 4268307 missense probably benign 0.18
R2518:Timm44 UTSW 8 4266588 missense probably null 1.00
R4049:Timm44 UTSW 8 4260561 missense probably benign 0.00
R4489:Timm44 UTSW 8 4266654 missense possibly damaging 0.48
R4803:Timm44 UTSW 8 4267932 missense probably damaging 0.99
R5001:Timm44 UTSW 8 4275886 start codon destroyed probably null 0.98
R5260:Timm44 UTSW 8 4275919 splice site probably null
R5335:Timm44 UTSW 8 4266814 missense probably damaging 1.00
R5502:Timm44 UTSW 8 4269992 missense possibly damaging 0.93
R5602:Timm44 UTSW 8 4266769 critical splice donor site probably null
R5700:Timm44 UTSW 8 4274171 missense probably damaging 1.00
R6004:Timm44 UTSW 8 4267747 missense probably benign 0.00
R6186:Timm44 UTSW 8 4266824 missense probably damaging 1.00
R6524:Timm44 UTSW 8 4267988 missense possibly damaging 0.68
R6823:Timm44 UTSW 8 4267282 missense probably damaging 1.00
R6996:Timm44 UTSW 8 4266611 missense possibly damaging 0.87
R7183:Timm44 UTSW 8 4267311 missense probably damaging 0.98
R7844:Timm44 UTSW 8 4269976 missense possibly damaging 0.71
R8209:Timm44 UTSW 8 4266844 missense probably benign 0.02
R8532:Timm44 UTSW 8 4260549 missense possibly damaging 0.63
R8785:Timm44 UTSW 8 4270019 missense probably benign 0.10
R9003:Timm44 UTSW 8 4274204 missense possibly damaging 0.89
R9262:Timm44 UTSW 8 4260621 missense probably damaging 1.00
R9537:Timm44 UTSW 8 4260576 missense possibly damaging 0.90
Z1088:Timm44 UTSW 8 4268004 missense probably benign 0.00
Posted On 2013-12-03