Incidental Mutation 'IGL02336:Timm44'
ID 288861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Timm44
Ensembl Gene ENSMUSG00000002949
Gene Name translocase of inner mitochondrial membrane 44
Synonyms Mimt44, 0710005E20Rik, Tim44, D8Ertd118e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL02336
Quality Score
Status
Chromosome 8
Chromosomal Location 4259731-4275913 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4267692 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 210 (R210W)
Ref Sequence ENSEMBL: ENSMUSP00000003029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003029]
AlphaFold O35857
Predicted Effect probably damaging
Transcript: ENSMUST00000003029
AA Change: R210W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: R210W

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
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,032 V2127A probably damaging Het
Accsl A G 2: 93,865,908 V119A possibly damaging Het
Adamts12 T A 15: 11,311,245 M1196K probably benign Het
Adgre1 T A 17: 57,411,024 C345* probably null Het
Adrb2 T C 18: 62,179,007 E249G probably benign Het
Amdhd1 T A 10: 93,524,429 I423F probably benign Het
Ankhd1 A G 18: 36,594,814 N501S probably damaging Het
Cd180 T A 13: 102,705,313 I289N probably damaging Het
Chst5 T A 8: 111,890,317 I224F probably damaging Het
Cox6a2 A G 7: 128,205,931 I60T possibly damaging Het
Dnajc6 C T 4: 101,614,286 probably null Het
Dpp6 G A 5: 27,469,411 E179K probably benign Het
Fasn G A 11: 120,813,736 T1341I possibly damaging Het
Fat1 C T 8: 44,951,583 T457I probably benign Het
Filip1l A T 16: 57,571,733 probably null Het
Gje1 A T 10: 14,716,669 I123N probably damaging Het
Gli3 A G 13: 15,720,289 T683A probably damaging Het
Gm29326 C A 7: 29,561,408 noncoding transcript Het
Gm5460 A G 14: 34,043,952 probably benign Het
Hspa4 C T 11: 53,262,373 S739N probably benign Het
Ighv1-42 T A 12: 114,937,265 I67F probably damaging Het
Iqgap1 A G 7: 80,752,293 V408A probably benign Het
Kdm7a A T 6: 39,170,264 W250R probably damaging Het
Kif5a A G 10: 127,242,696 I360T possibly damaging Het
Maml1 T C 11: 50,258,165 N916S probably benign Het
Mier2 A T 10: 79,548,350 probably benign Het
Mpst A T 15: 78,410,274 T69S probably benign Het
Nlk C A 11: 78,586,937 V327F probably damaging Het
Nme5 A T 18: 34,578,677 S4T probably benign Het
Notch2 A G 3: 98,138,395 I1625M possibly damaging Het
Nup210l T C 3: 90,181,552 probably null Het
Oas1d A G 5: 120,919,048 E239G probably damaging Het
Olfm4 T C 14: 80,006,321 S110P probably damaging Het
Olfr589 T C 7: 103,155,565 M61V probably benign Het
Parn T A 16: 13,566,703 I499F probably damaging Het
Ppargc1a G A 5: 51,495,726 Q165* probably null Het
Ppp1r12b T A 1: 134,886,506 E353V probably damaging Het
Prkdc A G 16: 15,785,978 Q2952R possibly damaging Het
Prkdc G T 16: 15,785,979 Q2952H probably benign Het
Qars G T 9: 108,514,986 E143* probably null Het
Reln A G 5: 21,929,134 Y2599H probably damaging Het
Rnf123 T C 9: 108,061,842 E803G probably damaging Het
Rnf141 G A 7: 110,837,198 Q8* probably null Het
Rnf167 A G 11: 70,650,126 I193V probably benign Het
Rprd2 A T 3: 95,787,310 M137K probably benign Het
Rtf1 T G 2: 119,728,745 probably benign Het
Serpina1d T A 12: 103,764,796 R308* probably null Het
Smg7 T C 1: 152,843,279 Y899C probably benign Het
Tbr1 C A 2: 61,804,992 H95Q possibly damaging Het
Tcf19 A T 17: 35,514,483 probably null Het
Trnau1ap C A 4: 132,314,020 E194* probably null Het
Trp63 G A 16: 25,820,442 G127S probably damaging Het
Trrap C T 5: 144,798,390 A989V probably benign Het
Ttn T C 2: 76,769,982 D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,179,952 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn1r80 A G 7: 12,193,254 Y97C probably benign Het
Vmn2r77 G A 7: 86,802,016 C370Y probably damaging Het
Xntrpc C A 7: 102,084,285 A147D probably damaging Het
Zc3h4 C T 7: 16,425,777 S424F unknown Het
Zcwpw1 T A 5: 137,810,114 S275T probably damaging Het
Zfp979 C T 4: 147,615,351 C44Y probably damaging Het
Zscan20 T C 4: 128,585,794 H968R probably damaging Het
Zswim3 T C 2: 164,820,377 V259A probably damaging Het
Zzz3 T G 3: 152,428,059 D251E possibly damaging Het
Other mutations in Timm44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Timm44 APN 8 4275888 utr 5 prime probably benign
IGL01768:Timm44 APN 8 4266860 missense probably benign 0.00
lassie UTSW 8 4260621 missense probably damaging 1.00
Togo UTSW 8 4270019 missense probably benign 0.10
R0505:Timm44 UTSW 8 4260532 nonsense probably null
R0883:Timm44 UTSW 8 4266592 missense probably benign
R1842:Timm44 UTSW 8 4260510 critical splice donor site probably null
R1965:Timm44 UTSW 8 4260603 missense possibly damaging 0.65
R2243:Timm44 UTSW 8 4267871 missense possibly damaging 0.91
R2318:Timm44 UTSW 8 4268307 missense probably benign 0.18
R2518:Timm44 UTSW 8 4266588 missense probably null 1.00
R4049:Timm44 UTSW 8 4260561 missense probably benign 0.00
R4489:Timm44 UTSW 8 4266654 missense possibly damaging 0.48
R4803:Timm44 UTSW 8 4267932 missense probably damaging 0.99
R5001:Timm44 UTSW 8 4275886 start codon destroyed probably null 0.98
R5260:Timm44 UTSW 8 4275919 splice site probably null
R5335:Timm44 UTSW 8 4266814 missense probably damaging 1.00
R5502:Timm44 UTSW 8 4269992 missense possibly damaging 0.93
R5602:Timm44 UTSW 8 4266769 critical splice donor site probably null
R5700:Timm44 UTSW 8 4274171 missense probably damaging 1.00
R6004:Timm44 UTSW 8 4267747 missense probably benign 0.00
R6186:Timm44 UTSW 8 4266824 missense probably damaging 1.00
R6524:Timm44 UTSW 8 4267988 missense possibly damaging 0.68
R6823:Timm44 UTSW 8 4267282 missense probably damaging 1.00
R6996:Timm44 UTSW 8 4266611 missense possibly damaging 0.87
R7183:Timm44 UTSW 8 4267311 missense probably damaging 0.98
R7844:Timm44 UTSW 8 4269976 missense possibly damaging 0.71
R8209:Timm44 UTSW 8 4266844 missense probably benign 0.02
R8532:Timm44 UTSW 8 4260549 missense possibly damaging 0.63
R8785:Timm44 UTSW 8 4270019 missense probably benign 0.10
R9003:Timm44 UTSW 8 4274204 missense possibly damaging 0.89
R9262:Timm44 UTSW 8 4260621 missense probably damaging 1.00
R9537:Timm44 UTSW 8 4260576 missense possibly damaging 0.90
Z1088:Timm44 UTSW 8 4268004 missense probably benign 0.00
Posted On 2015-04-16