Incidental Mutation 'R5260:Timm44'
ID 455969
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 042829-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R5260 (G1)
Quality Score 184
Status Validated
Chromosome 8
Chromosomal Location 4309731-4325905 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 4325919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029] [ENSMUST00000003029] [ENSMUST00000003029]
AlphaFold O35857
Predicted Effect probably null
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 probably null
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 probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (77/78)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,461,003 (GRCm39) I14F probably damaging Het
Acin1 T C 14: 54,880,279 (GRCm39) probably benign Het
Adamts9 C A 6: 92,784,118 (GRCm39) V1579L probably benign Het
Adra2a T A 19: 54,035,039 (GRCm39) C132S probably damaging Het
Aif1 T A 17: 35,390,917 (GRCm39) probably null Het
Atf5 A T 7: 44,464,510 (GRCm39) Y27* probably null Het
Atm A G 9: 53,417,911 (GRCm39) S799P probably damaging Het
Bmp2k T G 5: 97,235,210 (GRCm39) probably benign Het
Chaf1a C T 17: 56,372,000 (GRCm39) H723Y probably damaging Het
Clint1 T C 11: 45,798,769 (GRCm39) W493R probably damaging Het
Cyb561a3 T A 19: 10,565,230 (GRCm39) V198D possibly damaging Het
Cyp2j8 T C 4: 96,389,301 (GRCm39) E174G possibly damaging Het
Cyp4v3 C T 8: 45,760,017 (GRCm39) G512S probably damaging Het
Dnah8 T A 17: 30,919,393 (GRCm39) V1122D probably benign Het
Doc2b C A 11: 75,676,989 (GRCm39) G128V probably damaging Het
Dysf T C 6: 84,127,016 (GRCm39) V1378A probably damaging Het
Efcab5 A T 11: 77,028,477 (GRCm39) S421T possibly damaging Het
Efcab6 T G 15: 83,829,324 (GRCm39) D672A probably benign Het
Eif2ak3 C A 6: 70,870,113 (GRCm39) H933Q probably damaging Het
Erc1 A T 6: 119,738,120 (GRCm39) N574K probably damaging Het
Eri2 A T 7: 119,387,069 (GRCm39) probably benign Het
Faxc A G 4: 21,948,744 (GRCm39) Y152C probably damaging Het
Fbxl7 T A 15: 26,543,585 (GRCm39) Y354F probably damaging Het
Fras1 T A 5: 96,883,046 (GRCm39) I2526N possibly damaging Het
Gm5424 A T 10: 61,907,374 (GRCm39) noncoding transcript Het
Gm6728 T C 6: 136,463,701 (GRCm39) noncoding transcript Het
Golgb1 A T 16: 36,733,503 (GRCm39) S917C probably benign Het
Gtpbp3 T C 8: 71,942,062 (GRCm39) probably benign Het
Gusb A T 5: 130,028,829 (GRCm39) Y220* probably null Het
Gvin3 A G 7: 106,198,411 (GRCm39) noncoding transcript Het
Hmcn1 A G 1: 150,471,612 (GRCm39) V4914A possibly damaging Het
Iars2 C A 1: 185,055,931 (GRCm39) C211F probably damaging Het
Kif5b A G 18: 6,211,058 (GRCm39) L802P probably damaging Het
Kif5c A G 2: 49,625,602 (GRCm39) E624G probably damaging Het
Kmt2d G T 15: 98,740,741 (GRCm39) probably benign Het
Krt82 C A 15: 101,456,823 (GRCm39) G186C possibly damaging Het
Lca5 G A 9: 83,305,276 (GRCm39) R177C probably damaging Het
Mab21l4 A T 1: 93,087,700 (GRCm39) V51E probably damaging Het
Mier1 T C 4: 103,019,907 (GRCm39) S318P probably benign Het
Obscn A T 11: 58,894,195 (GRCm39) I1207N probably damaging Het
Oog4 C T 4: 143,164,424 (GRCm39) G369D probably benign Het
Or4c126 A G 2: 89,824,526 (GRCm39) D263G probably damaging Het
Or4k52 A G 2: 111,611,526 (GRCm39) Y287C probably damaging Het
Or52d13 A G 7: 103,109,822 (GRCm39) F198L probably benign Het
Or5d35 A C 2: 87,855,818 (GRCm39) I251L probably benign Het
Plec T C 15: 76,060,824 (GRCm39) T3060A probably damaging Het
Plekhh2 C T 17: 84,884,593 (GRCm39) T769I probably damaging Het
Prkaa1 A T 15: 5,190,149 (GRCm39) S65C probably damaging Het
Psma3 T C 12: 71,031,416 (GRCm39) probably benign Het
Ptpn18 T A 1: 34,502,591 (GRCm39) probably benign Het
Ptprv T C 1: 135,039,998 (GRCm39) noncoding transcript Het
Rac1 C A 5: 143,493,886 (GRCm39) V104L probably benign Het
Serpinb7 A T 1: 107,362,479 (GRCm39) N61I possibly damaging Het
Sirt7 A C 11: 120,511,347 (GRCm39) probably benign Het
Srl G A 16: 4,300,759 (GRCm39) R333* probably null Het
Srprb A T 9: 103,079,119 (GRCm39) L756Q probably damaging Het
Tchhl1 T C 3: 93,378,102 (GRCm39) S269P probably damaging Het
Tdo2 C T 3: 81,882,630 (GRCm39) probably null Het
Teddm1a T C 1: 153,767,646 (GRCm39) Y37H probably benign Het
Tenm3 T C 8: 48,689,890 (GRCm39) Y1899C probably damaging Het
Tep1 T C 14: 51,076,088 (GRCm39) T1681A probably benign Het
Trp73 A G 4: 154,147,059 (GRCm39) V322A possibly damaging Het
Tsr1 A C 11: 74,796,781 (GRCm39) E611A probably damaging Het
Unc80 A G 1: 66,685,746 (GRCm39) N2290S possibly damaging Het
Ush2a T C 1: 188,679,276 (GRCm39) V4828A possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnt9b C A 11: 103,622,875 (GRCm39) S176I possibly damaging Het
Zfp329 A G 7: 12,540,453 (GRCm39) probably benign Het
Zfp352 T A 4: 90,112,697 (GRCm39) V279D probably damaging Het
Zfp932 C T 5: 110,157,501 (GRCm39) Q400* probably null Het
Zxdc T A 6: 90,359,075 (GRCm39) L569Q 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
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'- CGAGCATTGCCGCTGAATTC -3'
(R):5'- TCCCTGAGCCTCAACAAGAG -3'

Sequencing Primer
(F):5'- TCGGCTGACCCAATGACC -3'
(R):5'- GGCTTACCTGTCCTAAACTCTG -3'
Posted On 2017-02-14