Incidental Mutation 'R4803:Timm44'
ID 370471
Institutional Source Beutler Lab
Gene Symbol Timm44
Ensembl Gene ENSMUSG00000002949
Gene Name translocase of inner mitochondrial membrane 44
Synonyms D8Ertd118e, Mimt44, 0710005E20Rik, Tim44
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4803 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 4309731-4325905 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4317932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 159 (S159P)
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029]
AlphaFold O35857
Predicted Effect probably damaging
Transcript: ENSMUST00000003029
AA Change: S159P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: S159P

DomainStartEndE-ValueType
coiled coil region 60 117 N/A INTRINSIC
Tim44 296 445 9.67e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161143
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Anxa8 T A 14: 33,814,579 (GRCm39) probably null Het
Ap4e1 A G 2: 126,891,479 (GRCm39) I83M probably benign Het
Arhgap44 G C 11: 64,943,921 (GRCm39) P197A probably benign Het
Asb1 T A 1: 91,480,051 (GRCm39) V157E probably damaging Het
B3gat1 T A 9: 26,666,986 (GRCm39) Y73N probably benign Het
Bmp8a G A 4: 123,218,362 (GRCm39) T219I possibly damaging Het
Cacna1c G A 6: 118,728,502 (GRCm39) S285F probably damaging Het
Cd163 A G 6: 124,289,389 (GRCm39) D369G probably damaging Het
Ckap2l C T 2: 129,111,176 (GRCm39) G674R probably damaging Het
Cog2 A G 8: 125,262,190 (GRCm39) Y276C probably damaging Het
Col16a1 A T 4: 129,948,901 (GRCm39) probably benign Het
Col5a1 G A 2: 27,901,353 (GRCm39) G1282R unknown Het
Cyp2c29 A T 19: 39,313,439 (GRCm39) M351L probably benign Het
Cyp4f15 T A 17: 32,911,554 (GRCm39) D145E probably benign Het
Defb48 T C 14: 63,221,906 (GRCm39) Y4C unknown Het
Dnaaf3 T C 7: 4,529,903 (GRCm39) Q292R probably benign Het
Dnah11 T C 12: 118,091,343 (GRCm39) M930V possibly damaging Het
Dnaja2 A T 8: 86,280,029 (GRCm39) I50K probably damaging Het
Dnm2 A G 9: 21,385,925 (GRCm39) N316S probably damaging Het
Dusp12 A G 1: 170,708,175 (GRCm39) Y181H possibly damaging Het
Efemp1 T G 11: 28,871,795 (GRCm39) F437V possibly damaging Het
Eps8l3 T A 3: 107,798,325 (GRCm39) V464D probably damaging Het
Fat2 A T 11: 55,175,886 (GRCm39) L1609Q probably benign Het
Fbxw24 C T 9: 109,453,910 (GRCm39) V79I probably benign Het
Fgl2 A T 5: 21,580,918 (GRCm39) Q420L probably benign Het
Filip1 T C 9: 79,727,396 (GRCm39) K408E probably benign Het
Fkbp9 A C 6: 56,852,692 (GRCm39) I471L probably benign Het
Fndc1 A T 17: 7,972,538 (GRCm39) S1465T probably damaging Het
Fry A T 5: 150,322,998 (GRCm39) T1050S probably benign Het
Gm12258 G A 11: 58,749,856 (GRCm39) V344I probably benign Het
Gtf3c1 A G 7: 125,262,712 (GRCm39) V1049A probably damaging Het
Ireb2 A G 9: 54,814,098 (GRCm39) E829G probably benign Het
Itih5 G A 2: 10,245,392 (GRCm39) V494I probably benign Het
Krt75 A T 15: 101,476,507 (GRCm39) D419E probably benign Het
Lama1 T C 17: 68,116,266 (GRCm39) S2378P probably damaging Het
Lcorl T A 5: 45,904,623 (GRCm39) probably null Het
Man2a1 A T 17: 64,966,004 (GRCm39) H314L probably damaging Het
Mthfd1l T A 10: 3,957,840 (GRCm39) H292Q possibly damaging Het
Ocm A T 5: 143,960,686 (GRCm39) M87K possibly damaging Het
Oplah A G 15: 76,186,968 (GRCm39) Y616H probably damaging Het
Or4s2b A T 2: 88,508,366 (GRCm39) S56C probably benign Het
Or52e4 A C 7: 104,705,863 (GRCm39) I137L probably benign Het
Or5b99 T C 19: 12,976,533 (GRCm39) L61P probably damaging Het
Or5p58 A C 7: 107,694,666 (GRCm39) I37S probably damaging Het
Or8c13 C A 9: 38,091,546 (GRCm39) S191I probably damaging Het
Or8g32 A G 9: 39,305,932 (GRCm39) T282A probably benign Het
Pde3a G A 6: 141,404,812 (GRCm39) V346M probably damaging Het
Pdlim1 T A 19: 40,231,892 (GRCm39) E162V possibly damaging Het
Pdzd2 C G 15: 12,374,681 (GRCm39) S1818T probably benign Het
Phf24 G A 4: 42,933,731 (GRCm39) G38S probably damaging Het
Plekhg1 T C 10: 3,907,186 (GRCm39) V701A probably benign Het
Ppard C G 17: 28,505,348 (GRCm39) R12G unknown Het
Ptprz1 A G 6: 23,001,545 (GRCm39) S1212G probably benign Het
Rab3il1 C A 19: 10,004,808 (GRCm39) Q110K possibly damaging Het
Rin3 A T 12: 102,327,642 (GRCm39) probably benign Het
Rps6kb2 T A 19: 4,208,677 (GRCm39) K280* probably null Het
Slc27a6 G T 18: 58,705,105 (GRCm39) L162F possibly damaging Het
Slc6a19 T A 13: 73,832,161 (GRCm39) I472F possibly damaging Het
Spatc1l G A 10: 76,405,206 (GRCm39) R196Q probably damaging Het
Srp72 T C 5: 77,132,231 (GRCm39) I273T probably damaging Het
St8sia1 C A 6: 142,813,649 (GRCm39) S171I probably benign Het
Tas2r136 T C 6: 132,754,455 (GRCm39) H224R probably damaging Het
Tas2r140 A G 6: 133,032,743 (GRCm39) V5A possibly damaging Het
Tbce C T 13: 14,194,446 (GRCm39) R71H probably damaging Het
Tdrd9 A T 12: 111,963,269 (GRCm39) K115* probably null Het
Thada T A 17: 84,580,245 (GRCm39) H1403L probably damaging Het
Thap1 AGCAGCATCTGCTCG AG 8: 26,650,882 (GRCm39) probably null Het
Tlk2 T A 11: 105,171,926 (GRCm39) C699S probably damaging Het
Tmem178b A G 6: 39,981,160 (GRCm39) K65R probably damaging Het
Ttc28 T C 5: 111,425,329 (GRCm39) V1718A possibly damaging Het
Ttc6 T G 12: 57,775,291 (GRCm39) C1662W probably damaging Het
Ube2frt T A 12: 36,140,729 (GRCm39) probably benign Het
Unc13a C A 8: 72,115,494 (GRCm39) probably null Het
Vip A T 10: 5,594,099 (GRCm39) I151F probably damaging Het
Vps16 C T 2: 130,280,030 (GRCm39) P85L probably benign Het
Wdsub1 T C 2: 59,700,743 (GRCm39) probably benign Het
Zc3h12c T C 9: 52,027,853 (GRCm39) D503G 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
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'- ACTGACTCTACACCCTGCAG -3'
(R):5'- CACTTTTGTAAATGTTTCACGTGGC -3'

Sequencing Primer
(F):5'- CTGGGAGATGGCTTTGAA -3'
(R):5'- ACTCATGTCCATTCCAGGGAG -3'
Posted On 2016-02-04