Incidental Mutation 'IGL03407:Dnajc10'
ID 421620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc10
Ensembl Gene ENSMUSG00000027006
Gene Name DnaJ heat shock protein family (Hsp40) member C10
Synonyms 1200006L06Rik, JPDI, ERdj5, D2Ertd706e
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL03407
Quality Score
Status
Chromosome 2
Chromosomal Location 80145810-80184387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80176985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 647 (Y647H)
Ref Sequence ENSEMBL: ENSMUSP00000028392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028392]
AlphaFold Q9DC23
PDB Structure Crystal structure of full-length ERdj5 [X-RAY DIFFRACTION]
Crystal structure of J-Trx1 fragment of ERdj5 [X-RAY DIFFRACTION]
Crystal structure of Trx4 domain of ERdj5 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028392
AA Change: Y647H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: Y647H

DomainStartEndE-ValueType
DnaJ 34 92 9.73e-26 SMART
Pfam:Thioredoxin 130 232 5.6e-21 PFAM
low complexity region 384 392 N/A INTRINSIC
Pfam:Thioredoxin 454 553 2.3e-21 PFAM
Pfam:Thioredoxin 557 663 2e-21 PFAM
Pfam:Thioredoxin 672 776 5.8e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154912
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 an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,904,111 (GRCm39) V198A probably benign Het
Acot3 A T 12: 84,105,415 (GRCm39) D294V probably damaging Het
Eml6 G A 11: 29,856,330 (GRCm39) L67F probably damaging Het
Fbxw8 A G 5: 118,280,741 (GRCm39) C139R probably damaging Het
Fscb G T 12: 64,520,269 (GRCm39) A399D probably damaging Het
Gm21726 T C 13: 90,731,760 (GRCm39) noncoding transcript Het
Lama2 A T 10: 27,223,017 (GRCm39) V423D probably damaging Het
Mctp2 A T 7: 71,861,400 (GRCm39) I415N probably benign Het
Myh13 A G 11: 67,242,978 (GRCm39) T964A probably damaging Het
Ncf4 A G 15: 78,138,981 (GRCm39) probably benign Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Or3a1d G T 11: 74,238,371 (GRCm39) T13K possibly damaging Het
Or51m1 A T 7: 103,578,158 (GRCm39) N43Y probably damaging Het
Plch2 A T 4: 155,074,255 (GRCm39) V870E probably damaging Het
Prss55 A T 14: 64,314,539 (GRCm39) D210E probably damaging Het
Rad51ap2 A G 12: 11,507,198 (GRCm39) I373M possibly damaging Het
Rbm12 C A 2: 155,939,484 (GRCm39) G263* probably null Het
Rnf167 G T 11: 70,541,879 (GRCm39) probably null Het
Scn10a A G 9: 119,477,237 (GRCm39) I715T probably damaging Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
St8sia1 T C 6: 142,859,775 (GRCm39) N118S possibly damaging Het
Tas1r3 A G 4: 155,946,439 (GRCm39) probably null Het
Thbs2 A G 17: 14,893,535 (GRCm39) S882P probably benign Het
Tmem25 A G 9: 44,707,636 (GRCm39) S220P probably damaging Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Trex1 C T 9: 108,887,395 (GRCm39) G199S probably damaging Het
Ttn T C 2: 76,544,545 (GRCm39) I32814V probably damaging Het
Vmn2r15 T A 5: 109,434,185 (GRCm39) R840* probably null Het
Vps13b A T 15: 35,640,012 (GRCm39) Q1294L possibly damaging Het
Zdhhc7 T C 8: 120,812,131 (GRCm39) N164D probably damaging Het
Other mutations in Dnajc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Dnajc10 APN 2 80,155,096 (GRCm39) splice site probably benign
IGL01420:Dnajc10 APN 2 80,175,367 (GRCm39) missense possibly damaging 0.81
IGL01466:Dnajc10 APN 2 80,151,631 (GRCm39) missense probably benign 0.00
IGL01645:Dnajc10 APN 2 80,170,871 (GRCm39) missense possibly damaging 0.46
IGL01929:Dnajc10 APN 2 80,158,420 (GRCm39) missense probably damaging 0.99
IGL01958:Dnajc10 APN 2 80,151,648 (GRCm39) splice site probably benign
IGL02205:Dnajc10 APN 2 80,179,702 (GRCm39) missense possibly damaging 0.74
IGL02289:Dnajc10 APN 2 80,170,870 (GRCm39) missense probably damaging 0.98
IGL02661:Dnajc10 APN 2 80,157,084 (GRCm39) splice site probably benign
IGL02865:Dnajc10 APN 2 80,161,647 (GRCm39) missense probably benign
IGL03026:Dnajc10 APN 2 80,179,647 (GRCm39) missense probably damaging 0.96
PIT4283001:Dnajc10 UTSW 2 80,161,739 (GRCm39) missense probably benign 0.19
R0092:Dnajc10 UTSW 2 80,156,026 (GRCm39) missense probably damaging 0.97
R0457:Dnajc10 UTSW 2 80,175,290 (GRCm39) missense possibly damaging 0.65
R1414:Dnajc10 UTSW 2 80,178,021 (GRCm39) missense probably damaging 0.99
R1739:Dnajc10 UTSW 2 80,178,006 (GRCm39) missense probably benign 0.03
R2126:Dnajc10 UTSW 2 80,181,078 (GRCm39) critical splice donor site probably null
R3717:Dnajc10 UTSW 2 80,155,089 (GRCm39) splice site probably benign
R3718:Dnajc10 UTSW 2 80,155,089 (GRCm39) splice site probably benign
R4020:Dnajc10 UTSW 2 80,175,296 (GRCm39) missense probably damaging 1.00
R4453:Dnajc10 UTSW 2 80,176,967 (GRCm39) missense probably damaging 0.98
R4585:Dnajc10 UTSW 2 80,178,122 (GRCm39) missense probably damaging 1.00
R4586:Dnajc10 UTSW 2 80,178,122 (GRCm39) missense probably damaging 1.00
R4772:Dnajc10 UTSW 2 80,170,870 (GRCm39) missense probably damaging 0.98
R5653:Dnajc10 UTSW 2 80,179,712 (GRCm39) missense probably damaging 1.00
R6157:Dnajc10 UTSW 2 80,147,735 (GRCm39) start gained probably benign
R6263:Dnajc10 UTSW 2 80,174,292 (GRCm39) missense probably damaging 1.00
R6303:Dnajc10 UTSW 2 80,181,008 (GRCm39) missense probably benign 0.07
R6932:Dnajc10 UTSW 2 80,161,680 (GRCm39) missense probably benign
R7104:Dnajc10 UTSW 2 80,171,159 (GRCm39) missense probably damaging 1.00
R7181:Dnajc10 UTSW 2 80,149,587 (GRCm39) nonsense probably null
R7458:Dnajc10 UTSW 2 80,155,094 (GRCm39) splice site probably null
R7842:Dnajc10 UTSW 2 80,175,409 (GRCm39) missense probably benign 0.04
R8123:Dnajc10 UTSW 2 80,179,704 (GRCm39) missense probably damaging 1.00
R8276:Dnajc10 UTSW 2 80,179,614 (GRCm39) missense probably benign
R8365:Dnajc10 UTSW 2 80,176,902 (GRCm39) missense probably damaging 1.00
R8915:Dnajc10 UTSW 2 80,147,801 (GRCm39) missense possibly damaging 0.62
R9025:Dnajc10 UTSW 2 80,179,637 (GRCm39) missense probably damaging 1.00
R9169:Dnajc10 UTSW 2 80,163,315 (GRCm39) missense probably benign
R9262:Dnajc10 UTSW 2 80,176,965 (GRCm39) missense probably benign 0.17
R9292:Dnajc10 UTSW 2 80,176,916 (GRCm39) missense probably benign
R9332:Dnajc10 UTSW 2 80,175,327 (GRCm39) missense probably benign 0.35
X0018:Dnajc10 UTSW 2 80,181,018 (GRCm39) missense probably damaging 0.97
X0024:Dnajc10 UTSW 2 80,175,306 (GRCm39) missense probably benign 0.19
Z1177:Dnajc10 UTSW 2 80,149,577 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02