Incidental Mutation 'R1965:Timm44'
ID 218285
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 039978-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R1965 (G1)
Quality Score 223
Status Not validated
Chromosome 8
Chromosomal Location 4309731-4325905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4310603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 383 (M383T)
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029] [ENSMUST00000011981] [ENSMUST00000053252] [ENSMUST00000208459] [ENSMUST00000208316]
AlphaFold O35857
Predicted Effect possibly damaging
Transcript: ENSMUST00000003029
AA Change: M383T

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: M383T

DomainStartEndE-ValueType
coiled coil region 60 117 N/A INTRINSIC
Tim44 296 445 9.67e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000011981
SMART Domains Protein: ENSMUSP00000011981
Gene: ENSMUSG00000011837

DomainStartEndE-ValueType
Pfam:SnAPC_2_like 1 356 5.9e-144 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053252
SMART Domains Protein: ENSMUSP00000057115
Gene: ENSMUSG00000048644

DomainStartEndE-ValueType
Pfam:Cortexin 7 82 7.3e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148672
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149827
Predicted Effect probably benign
Transcript: ENSMUST00000208110
Predicted Effect probably benign
Transcript: ENSMUST00000208459
Predicted Effect probably benign
Transcript: ENSMUST00000208316
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T G 4: 40,175,730 (GRCm39) L157R probably damaging Het
Acot11 A T 4: 106,606,550 (GRCm39) L513Q probably damaging Het
Amd1 A G 10: 40,170,755 (GRCm39) I52T probably benign Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arel1 T A 12: 84,987,173 (GRCm39) probably null Het
Arg1 T A 10: 24,792,762 (GRCm39) probably null Het
Atf1 A T 15: 100,152,052 (GRCm39) M135L probably benign Het
Atf2 T C 2: 73,681,242 (GRCm39) E77G possibly damaging Het
Axin1 G T 17: 26,403,199 (GRCm39) A394S probably damaging Het
Axin1 A T 17: 26,409,202 (GRCm39) Q734L probably damaging Het
Brd8 G C 18: 34,735,819 (GRCm39) A886G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Celf3 T C 3: 94,392,634 (GRCm39) V35A probably damaging Het
Cfap299 T A 5: 98,494,093 (GRCm39) D32E probably damaging Het
Ckap2 T C 8: 22,665,803 (GRCm39) T415A possibly damaging Het
Crybg3 T C 16: 59,323,600 (GRCm39) Y1066C probably damaging Het
Csmd3 T C 15: 47,713,144 (GRCm39) H1506R probably benign Het
Dnah10 A G 5: 124,852,267 (GRCm39) D1808G probably damaging Het
Dsc3 C T 18: 20,113,729 (GRCm39) G398R probably damaging Het
Emc2 A G 15: 43,390,863 (GRCm39) Q293R probably damaging Het
Evc2 A G 5: 37,520,876 (GRCm39) N251D possibly damaging Het
Fam151a A T 4: 106,591,112 (GRCm39) probably benign Het
Fbxw16 T A 9: 109,270,289 (GRCm39) I151F probably damaging Het
Fmnl2 A G 2: 53,004,880 (GRCm39) D658G probably damaging Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Foxc2 T A 8: 121,843,413 (GRCm39) S20R probably damaging Het
Fpr-rs6 C T 17: 20,402,918 (GRCm39) G148R probably damaging Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Fyb2 A T 4: 104,770,846 (GRCm39) I54F probably benign Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gldc G A 19: 30,114,513 (GRCm39) R466* probably null Het
Gm12695 T A 4: 96,651,082 (GRCm39) S124C probably benign Het
Gm4846 A T 1: 166,314,533 (GRCm39) I370N possibly damaging Het
Gsdmc3 T C 15: 63,730,296 (GRCm39) T423A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnmb3 T C 3: 32,526,492 (GRCm39) Y233C probably damaging Het
Kidins220 A G 12: 25,044,905 (GRCm39) D191G probably damaging Het
Kmt2a A G 9: 44,732,757 (GRCm39) probably benign Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Myo1f C T 17: 33,817,146 (GRCm39) R730* probably null Het
Ncoa7 C A 10: 30,530,426 (GRCm39) E30* probably null Het
Neurod4 T A 10: 130,106,918 (GRCm39) K119* probably null Het
Npy5r T C 8: 67,133,929 (GRCm39) D288G probably benign Het
Nr3c2 A T 8: 77,636,092 (GRCm39) I398L probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or12j4 C A 7: 140,046,574 (GRCm39) F153L probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or4k35 T C 2: 111,099,938 (GRCm39) Y258C probably damaging Het
Or51v8 A T 7: 103,320,103 (GRCm39) I45N probably damaging Het
Or5g25 T C 2: 85,478,090 (GRCm39) T192A possibly damaging Het
Or5w8 A G 2: 87,687,759 (GRCm39) K80R probably benign Het
Or9m1b A G 2: 87,836,648 (GRCm39) F149S probably damaging Het
P3r3urf G A 4: 116,031,376 (GRCm39) C82Y probably damaging Het
Pcf11 A T 7: 92,310,809 (GRCm39) M393K probably benign Het
Pck2 T C 14: 55,779,964 (GRCm39) V71A probably benign Het
Pdzd8 G T 19: 59,288,554 (GRCm39) L949I probably benign Het
Pdzrn4 G A 15: 92,644,190 (GRCm39) probably null Het
Phospho1 A G 11: 95,721,705 (GRCm39) N125S probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Ppp1r1b A G 11: 98,246,189 (GRCm39) E57G probably damaging Het
Prtg T G 9: 72,755,604 (GRCm39) S269A probably benign Het
Rbbp5 T A 1: 132,422,035 (GRCm39) S312T probably damaging Het
Rbm11 T A 16: 75,395,656 (GRCm39) probably null Het
Retreg1 A G 15: 25,970,250 (GRCm39) T139A probably damaging Het
Riok3 T A 18: 12,270,019 (GRCm39) H120Q probably damaging Het
Rln1 A T 19: 29,311,995 (GRCm39) M1K probably null Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Sccpdh C T 1: 179,511,879 (GRCm39) P117L probably damaging Het
Serac1 T C 17: 6,099,274 (GRCm39) K506E possibly damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Slc1a2 T A 2: 102,570,245 (GRCm39) N174K probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Slc46a2 T A 4: 59,914,249 (GRCm39) S225C probably damaging Het
Smarcc2 G A 10: 128,310,627 (GRCm39) E419K probably damaging Het
Stkld1 T A 2: 26,836,744 (GRCm39) probably null Het
Szt2 A G 4: 118,241,162 (GRCm39) M1704T probably benign Het
Tasor T G 14: 27,164,511 (GRCm39) C272W probably damaging Het
Tfcp2l1 C T 1: 118,580,653 (GRCm39) Q116* probably null Het
Tnpo2 G A 8: 85,771,946 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Wdfy3 A G 5: 102,099,178 (GRCm39) L290P probably damaging Het
Wdr59 A G 8: 112,177,709 (GRCm39) F898L probably damaging Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp879 A T 11: 50,724,355 (GRCm39) C234S 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
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
Predicted Primers PCR Primer
(F):5'- TCAGATGAAACGGTGCTCTG -3'
(R):5'- ACTCCTCTAAAGTCGGGGAG -3'

Sequencing Primer
(F):5'- CAGATGAAACGGTGCTCTGACTTC -3'
(R):5'- TCGGGGAGGGTGGTACCATAC -3'
Posted On 2014-08-01