Incidental Mutation 'R7183:Timm44'
ID 559111
Institutional Source Beutler Lab
Gene Symbol Timm44
Ensembl Gene ENSMUSG00000002949
Gene Name translocase of inner mitochondrial membrane 44
Synonyms D8Ertd118e, Mimt44, 0710005E20Rik, Tim44
MMRRC Submission 045235-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7183 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 4309731-4325905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4317311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 238 (D238G)
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029]
AlphaFold O35857
Predicted Effect probably damaging
Transcript: ENSMUST00000003029
AA Change: D238G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: D238G

DomainStartEndE-ValueType
coiled coil region 60 117 N/A INTRINSIC
Tim44 296 445 9.67e-36 SMART
Meta Mutation Damage Score 0.8897 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,215,706 (GRCm39) M816L possibly damaging Het
Ahnak T C 19: 8,995,032 (GRCm39) F5439L probably damaging Het
Apba2 G A 7: 64,383,293 (GRCm39) D369N probably benign Het
Arhgap32 A G 9: 32,097,679 (GRCm39) N228D probably benign Het
Arhgap33 T A 7: 30,225,296 (GRCm39) probably null Het
Cacna1g C T 11: 94,330,563 (GRCm39) C984Y probably benign Het
Cadm2 C A 16: 66,679,720 (GRCm39) G47* probably null Het
Ccdc125 A G 13: 100,826,866 (GRCm39) D241G possibly damaging Het
Ccdc39 T G 3: 33,868,620 (GRCm39) E822A probably damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdc42bpg A G 19: 6,360,827 (GRCm39) D195G probably damaging Het
Cdkl1 T C 12: 69,795,706 (GRCm39) R275G probably damaging Het
Chst4 T C 8: 110,756,630 (GRCm39) N411S possibly damaging Het
Cir1 A G 2: 73,116,730 (GRCm39) V210A probably damaging Het
Col6a1 A G 10: 76,552,093 (GRCm39) probably null Het
Crmp1 C A 5: 37,446,161 (GRCm39) H606N probably benign Het
Cyp2j8 A T 4: 96,367,418 (GRCm39) N233K probably damaging Het
Dennd1b A T 1: 139,097,990 (GRCm39) Q677L unknown Het
Dnah17 G A 11: 118,020,014 (GRCm39) T11I probably benign Het
Ehd1 A G 19: 6,347,684 (GRCm39) H346R probably benign Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Emc3 G T 6: 113,508,345 (GRCm39) Y33* probably null Het
Ercc5 A T 1: 44,200,968 (GRCm39) probably null Het
Ercc5 G T 1: 44,200,969 (GRCm39) probably null Het
Fat3 A C 9: 15,834,133 (GRCm39) I4153S possibly damaging Het
Fn3krp T C 11: 121,312,431 (GRCm39) probably null Het
Gmnc C T 16: 26,779,279 (GRCm39) D249N probably benign Het
Gsn C T 2: 35,184,960 (GRCm39) A305V probably benign Het
Haus6 A T 4: 86,501,989 (GRCm39) H627Q possibly damaging Het
Heg1 A G 16: 33,558,920 (GRCm39) probably null Het
Hoxd9 G T 2: 74,528,709 (GRCm39) V104L possibly damaging Het
Igkv10-96 A C 6: 68,609,200 (GRCm39) S32A probably benign Het
Kcnd2 G A 6: 21,216,436 (GRCm39) V47M probably damaging Het
Mab21l3 C T 3: 101,722,469 (GRCm39) V386M probably damaging Het
Masp2 A G 4: 148,696,614 (GRCm39) S404G probably benign Het
Or5b102 A G 19: 13,041,680 (GRCm39) I302V probably benign Het
Or5m12 T A 2: 85,734,486 (GRCm39) Q304L probably benign Het
Or7g20 G T 9: 18,946,628 (GRCm39) D70Y probably damaging Het
P4htm A T 9: 108,459,059 (GRCm39) M291K possibly damaging Het
Pde6c T C 19: 38,121,538 (GRCm39) S49P probably benign Het
Pdzd7 A G 19: 45,025,553 (GRCm39) V314A probably benign Het
Pfkl G A 10: 77,837,916 (GRCm39) R31* probably null Het
Phlpp2 C A 8: 110,666,585 (GRCm39) P1038Q probably damaging Het
Pik3c2b T C 1: 132,994,203 (GRCm39) S56P probably benign Het
Plec A G 15: 76,089,905 (GRCm39) V145A unknown Het
Prg3 G A 2: 84,821,848 (GRCm39) V158I probably benign Het
Prg3 G T 2: 84,823,367 (GRCm39) D181Y probably damaging Het
Rbp3 A G 14: 33,677,161 (GRCm39) T370A probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rubcnl T A 14: 75,287,066 (GRCm39) M578K probably damaging Het
Siae G A 9: 37,528,242 (GRCm39) V72M possibly damaging Het
Smchd1 A T 17: 71,660,511 (GRCm39) D1864E probably benign Het
Smox T C 2: 131,362,486 (GRCm39) I255T possibly damaging Het
Spata31e2 G A 1: 26,721,914 (GRCm39) L1089F probably benign Het
Tas2r123 A G 6: 132,824,661 (GRCm39) N186S possibly damaging Het
Thbs2 T A 17: 14,910,378 (GRCm39) I74F possibly damaging Het
Tlk2 T C 11: 105,112,185 (GRCm39) probably null Het
Tnc A G 4: 63,931,365 (GRCm39) S782P probably damaging Het
Tpr A T 1: 150,282,302 (GRCm39) K336N probably damaging Het
Uggt2 A T 14: 119,257,049 (GRCm39) probably null Het
Vmn2r101 T A 17: 19,832,440 (GRCm39) I812N probably damaging Het
Vps33a T C 5: 123,673,278 (GRCm39) Q436R probably null Het
Ywhaq T C 12: 21,466,870 (GRCm39) K75E possibly damaging Het
Zfp87 A G 13: 67,665,593 (GRCm39) S290P probably damaging Het
Other mutations in Timm44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Timm44 APN 8 4,325,888 (GRCm39) utr 5 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGTGACAGGATCTACAGGTAGC -3'
(R):5'- GCCAGTGCAAGTCTGTTTCTC -3'

Sequencing Primer
(F):5'- CAGGATCTACAGGTAGCTTAGTG -3'
(R):5'- AGTGCAAGTCTGTTTCTCTCTCAGG -3'
Posted On 2019-06-26