Incidental Mutation 'IGL01097:Dnajc5'
ID 50498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc5
Ensembl Gene ENSMUSG00000000826
Gene Name DnaJ heat shock protein family (Hsp40) member C5
Synonyms Csp, 2610314I24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01097
Quality Score
Status
Chromosome 2
Chromosomal Location 181162141-181194679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181189149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 42 (Y42H)
Ref Sequence ENSEMBL: ENSMUSP00000104425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072334] [ENSMUST00000108796] [ENSMUST00000108797] [ENSMUST00000116365] [ENSMUST00000152578]
AlphaFold P60904
Predicted Effect probably benign
Transcript: ENSMUST00000072334
AA Change: Y42H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000072175
Gene: ENSMUSG00000000826
AA Change: Y42H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
low complexity region 113 136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108796
AA Change: Y42H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104424
Gene: ENSMUSG00000000826
AA Change: Y42H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
low complexity region 113 136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108797
AA Change: Y42H

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104425
Gene: ENSMUSG00000000826
AA Change: Y42H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
low complexity region 113 136 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116365
AA Change: Y42H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000112066
Gene: ENSMUSG00000000826
AA Change: Y42H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
transmembrane domain 108 130 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141523
Predicted Effect probably benign
Transcript: ENSMUST00000152578
AA Change: Y42H

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116120
Gene: ENSMUSG00000000826
AA Change: Y42H

DomainStartEndE-ValueType
DnaJ 14 72 5.9e-32 SMART
transmembrane domain 108 130 N/A INTRINSIC
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 is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first 3 months of live and abnormalities in their neuromuscular synapses. This results in various defects in movement and coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 C T 1: 60,486,505 (GRCm39) A75V probably damaging Het
Bud23 G A 5: 135,089,935 (GRCm39) A86V probably damaging Het
Fchsd1 T C 18: 38,100,810 (GRCm39) probably null Het
Fnbp4 C A 2: 90,606,694 (GRCm39) A835D possibly damaging Het
Gm57859 T C 11: 113,583,296 (GRCm39) I541T probably benign Het
Grin2d A T 7: 45,502,716 (GRCm39) N718K probably damaging Het
Gsdma3 A G 11: 98,528,398 (GRCm39) K357E probably damaging Het
Impg2 T A 16: 56,081,010 (GRCm39) probably null Het
Lrrtm2 A T 18: 35,345,994 (GRCm39) I436N probably damaging Het
Mterf2 T A 10: 84,955,677 (GRCm39) I316L probably damaging Het
Nav2 G A 7: 49,220,942 (GRCm39) A1710T probably damaging Het
Nrros A G 16: 31,963,003 (GRCm39) V338A possibly damaging Het
Or2f2 T G 6: 42,767,077 (GRCm39) Y35D probably damaging Het
Or52a20 G T 7: 103,366,328 (GRCm39) V176F probably benign Het
Pappa2 T C 1: 158,684,718 (GRCm39) Y807C probably damaging Het
Slc44a4 T C 17: 35,140,545 (GRCm39) L246P probably damaging Het
Stat6 T C 10: 127,490,801 (GRCm39) S407P probably damaging Het
Ttpal T C 2: 163,449,240 (GRCm39) Y32H probably damaging Het
Zfp523 A G 17: 28,420,023 (GRCm39) K223E possibly damaging Het
Other mutations in Dnajc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03289:Dnajc5 APN 2 181,189,260 (GRCm39) missense probably damaging 1.00
R6579:Dnajc5 UTSW 2 181,189,209 (GRCm39) missense possibly damaging 0.89
Posted On 2013-06-21