Incidental Mutation 'R9262:Timm44'
ID 702318
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R9262 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 4309731-4325905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4310621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 377 (L377P)
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029] [ENSMUST00000011981] [ENSMUST00000053252] [ENSMUST00000208316] [ENSMUST00000208459]
AlphaFold O35857
Predicted Effect probably damaging
Transcript: ENSMUST00000003029
AA Change: L377P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: L377P

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 probably benign
Transcript: ENSMUST00000208110
Predicted Effect probably benign
Transcript: ENSMUST00000208316
Predicted Effect probably benign
Transcript: ENSMUST00000208459
Meta Mutation Damage Score 0.9560 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (73/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,443,375 (GRCm39) H192L unknown Het
Abca4 T A 3: 121,964,639 (GRCm39) C2149S probably damaging Het
Abl2 G A 1: 156,469,820 (GRCm39) G1028D possibly damaging Het
Adgre1 A G 17: 57,754,941 (GRCm39) T680A probably damaging Het
Amn G A 12: 111,237,585 (GRCm39) W10* probably null Het
Ankhd1 G T 18: 36,765,799 (GRCm39) V140F Het
Asnsd1 A T 1: 53,383,934 (GRCm39) N613K probably benign Het
Bbs2 A T 8: 94,807,543 (GRCm39) I417N probably damaging Het
Cad T A 5: 31,225,009 (GRCm39) W971R probably null Het
Cand2 A T 6: 115,759,730 (GRCm39) I134F probably benign Het
Ccdc154 C A 17: 25,389,160 (GRCm39) H453N probably damaging Het
Ccdc168 A G 1: 44,096,269 (GRCm39) S1610P possibly damaging Het
Ccdc7a T A 8: 129,486,277 (GRCm39) H1601L possibly damaging Het
Ccdc9 A C 7: 16,012,400 (GRCm39) S261A probably benign Het
Cdkl3 T A 11: 51,916,702 (GRCm39) S277T probably benign Het
Cipc T A 12: 86,999,497 (GRCm39) Y8* probably null Het
Cramp1 A G 17: 25,232,920 (GRCm39) S27P probably damaging Het
Csf1r A T 18: 61,243,406 (GRCm39) M141L probably benign Het
Csf2rb2 G T 15: 78,168,535 (GRCm39) F873L probably damaging Het
Dchs1 G A 7: 105,404,833 (GRCm39) R2570W probably damaging Het
Dmxl1 A T 18: 49,976,919 (GRCm39) N94Y probably benign Het
Dnajc10 A G 2: 80,176,965 (GRCm39) K640R probably benign Het
Epha8 A C 4: 136,658,995 (GRCm39) H886Q probably benign Het
Fcgbp G C 7: 27,819,952 (GRCm39) D2560H probably damaging Het
Fry T G 5: 150,305,109 (GRCm39) F605V probably damaging Het
Fsip2 A G 2: 82,807,662 (GRCm39) N1327S probably benign Het
Gm12117 T C 11: 33,226,001 (GRCm39) T112A probably benign Het
Gm3604 A T 13: 62,517,697 (GRCm39) N220K probably damaging Het
Gm572 T C 4: 148,735,652 (GRCm39) V27A probably benign Het
Gpr39 A G 1: 125,800,524 (GRCm39) K425R probably benign Het
Heatr3 A G 8: 88,883,097 (GRCm39) D349G probably benign Het
Hip1 A G 5: 135,478,541 (GRCm39) S248P probably damaging Het
Itga11 A G 9: 62,659,678 (GRCm39) probably benign Het
Itga3 C T 11: 94,956,625 (GRCm39) V210I probably benign Het
Jmjd1c T C 10: 67,083,793 (GRCm39) I2173T probably benign Het
Klf13 G A 7: 63,574,456 (GRCm39) Q21* probably null Het
Kmt2a A T 9: 44,731,222 (GRCm39) S3032T probably benign Het
Krt34 T C 11: 99,930,851 (GRCm39) R184G probably benign Het
Krtap16-1 T C 11: 99,876,994 (GRCm39) T137A probably benign Het
Ldc1 A G 4: 130,114,153 (GRCm39) V88A possibly damaging Het
Mgam T C 6: 40,723,422 (GRCm39) probably null Het
Mog T C 17: 37,325,648 (GRCm39) T196A possibly damaging Het
Ms4a6d T C 19: 11,579,216 (GRCm39) Y87C possibly damaging Het
Ndrg4 C T 8: 96,435,812 (GRCm39) probably benign Het
Nsd1 T A 13: 55,394,871 (GRCm39) M927K possibly damaging Het
Or11l3 T A 11: 58,516,282 (GRCm39) M197L probably benign Het
Or4a73 G T 2: 89,421,435 (GRCm39) T8K probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pcdhac2 A G 18: 37,279,095 (GRCm39) R692G possibly damaging Het
Pcsk4 T A 10: 80,160,864 (GRCm39) S321C probably damaging Het
Pi4ka A G 16: 17,120,859 (GRCm39) F1292L Het
Pigv G T 4: 133,397,110 (GRCm39) P6Q possibly damaging Het
Pkhd1 A C 1: 20,618,351 (GRCm39) S927A probably benign Het
Pnpla3 A T 15: 84,055,363 (GRCm39) I90F probably benign Het
Pole C A 5: 110,473,422 (GRCm39) L1739I probably damaging Het
Pole T A 5: 110,473,423 (GRCm39) L1739H probably damaging Het
Rbm12 A T 2: 155,939,317 (GRCm39) N318K possibly damaging Het
Rpl18a A T 8: 71,348,179 (GRCm39) L168Q probably benign Het
Ryr2 T C 13: 11,765,854 (GRCm39) N1294S probably damaging Het
Sema5b T C 16: 35,453,223 (GRCm39) L98P possibly damaging Het
Slco1a8 G T 6: 141,926,594 (GRCm39) F597L probably damaging Het
Smg7 A G 1: 152,721,262 (GRCm39) V650A probably damaging Het
Spata31d1e T C 13: 59,890,402 (GRCm39) M473V probably benign Het
Strada C T 11: 106,075,444 (GRCm39) R13Q probably damaging Het
Sun1 T C 5: 139,200,918 (GRCm39) S37P unknown Het
Syce1l T C 8: 114,380,738 (GRCm39) probably null Het
Tdg T A 10: 82,480,507 (GRCm39) F263L probably damaging Het
Tead3 G T 17: 28,560,495 (GRCm39) S36R probably benign Het
Tk1 C T 11: 117,716,581 (GRCm39) V9M probably benign Het
Trim36 A G 18: 46,300,506 (GRCm39) Y722H probably benign Het
Ttn A T 2: 76,640,232 (GRCm39) M13792K possibly damaging Het
Unc80 A G 1: 66,594,411 (GRCm39) probably benign Het
Usp46 G T 5: 74,189,965 (GRCm39) A133E probably benign Het
Wnk2 T A 13: 49,221,430 (GRCm39) R1240S probably benign Het
Zfp821 G A 8: 110,450,982 (GRCm39) R325Q 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
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
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'- TGAAACGGTGCTCTGACTTC -3'
(R):5'- TCACTCCTCTAAAGTCGGGG -3'

Sequencing Primer
(F):5'- GGTGCTCTGACTTCAAAAAGCTC -3'
(R):5'- CCTCTAAAGTCGGGGAGGGTG -3'
Posted On 2022-03-25