Incidental Mutation 'IGL03289:Dnajc5'
ID 415833
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 # IGL03289
Quality Score
Status
Chromosome 2
Chromosomal Location 181162141-181194679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181189260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 79 (Y79H)
Ref Sequence ENSEMBL: ENSMUSP00000116120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072334] [ENSMUST00000108796] [ENSMUST00000108797] [ENSMUST00000116365] [ENSMUST00000152578]
AlphaFold P60904
Predicted Effect probably damaging
Transcript: ENSMUST00000072334
AA Change: Y79H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072175
Gene: ENSMUSG00000000826
AA Change: Y79H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
low complexity region 113 136 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108796
AA Change: Y79H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104424
Gene: ENSMUSG00000000826
AA Change: Y79H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
low complexity region 113 136 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108797
AA Change: Y79H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104425
Gene: ENSMUSG00000000826
AA Change: Y79H

DomainStartEndE-ValueType
DnaJ 14 72 9.65e-30 SMART
low complexity region 113 136 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116365
AA Change: Y79H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112066
Gene: ENSMUSG00000000826
AA Change: Y79H

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 damaging
Transcript: ENSMUST00000152578
AA Change: Y79H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116120
Gene: ENSMUSG00000000826
AA Change: Y79H

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap10 A G 11: 61,768,794 (GRCm39) probably benign Het
Akap9 A G 5: 4,127,261 (GRCm39) Y3703C probably damaging Het
Ankk1 A G 9: 49,326,995 (GRCm39) V728A probably benign Het
B3galt2 T C 1: 143,523,042 (GRCm39) Y393H probably damaging Het
Clcn4 T A 7: 7,287,257 (GRCm39) I664F probably damaging Het
Clec2e A T 6: 129,075,418 (GRCm39) I41N probably damaging Het
Col2a1 A T 15: 97,878,762 (GRCm39) N845K unknown Het
Cubn T G 2: 13,431,778 (GRCm39) I1272L probably benign Het
Eml6 G T 11: 29,745,328 (GRCm39) A1006E possibly damaging Het
Igsf5 A T 16: 96,326,632 (GRCm39) D271V possibly damaging Het
Kalrn G A 16: 34,205,667 (GRCm39) A70V possibly damaging Het
Kcnn2 A T 18: 45,810,111 (GRCm39) K309N probably damaging Het
Lrch4 T C 5: 137,631,839 (GRCm39) S22P probably damaging Het
Mcpt2 A T 14: 56,281,794 (GRCm39) I215F probably damaging Het
Mrc1 T C 2: 14,313,634 (GRCm39) probably null Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Or1l4b C T 2: 37,036,590 (GRCm39) A122V probably damaging Het
Osbp2 A G 11: 3,813,380 (GRCm39) V163A probably benign Het
Pla2g6 G A 15: 79,201,985 (GRCm39) P62L probably damaging Het
Scart1 T C 7: 139,808,973 (GRCm39) probably null Het
Senp1 G T 15: 97,982,926 (GRCm39) H20Q probably damaging Het
Slc16a6 A G 11: 109,354,325 (GRCm39) Y31H probably damaging Het
Thbs2 T A 17: 14,910,384 (GRCm39) N72Y probably benign Het
Usp34 T A 11: 23,343,818 (GRCm39) S1366T possibly damaging Het
Vmn1r216 T A 13: 23,284,182 (GRCm39) D288E possibly damaging Het
Vmn2r11 T C 5: 109,196,788 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,735 (GRCm39) S347C possibly damaging Het
Yme1l1 T C 2: 23,050,280 (GRCm39) V37A probably benign Het
Zfp597 A T 16: 3,683,786 (GRCm39) D323E possibly damaging Het
Other mutations in Dnajc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Dnajc5 APN 2 181,189,149 (GRCm39) missense probably benign 0.01
R6579:Dnajc5 UTSW 2 181,189,209 (GRCm39) missense possibly damaging 0.89
Posted On 2016-08-02