Incidental Mutation 'R8365:Dnajc10'
ID 646123
Institutional Source Beutler Lab
Gene Symbol Dnajc10
Ensembl Gene ENSMUSG00000027006
Gene Name DnaJ heat shock protein family (Hsp40) member C10
Synonyms 1200006L06Rik, JPDI, ERdj5, D2Ertd706e
MMRRC Submission 067736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R8365 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 80145810-80184387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80176902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 619 (Y619C)
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: Y619C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: Y619C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,557,918 (GRCm39) C79* probably null Het
Abcc9 A T 6: 142,544,798 (GRCm39) S1430T probably benign Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Ankrd17 T C 5: 90,398,378 (GRCm39) K1724R possibly damaging Het
Brf2 A G 8: 27,618,566 (GRCm39) S13P possibly damaging Het
Cfap46 T A 7: 139,263,000 (GRCm39) K18* probably null Het
Cym T G 3: 107,120,182 (GRCm39) I306L probably benign Het
Cyp2c66 A T 19: 39,165,048 (GRCm39) H343L probably benign Het
Cyp2d34 T C 15: 82,504,874 (GRCm39) Y62C probably damaging Het
D630045J12Rik A G 6: 38,172,570 (GRCm39) S533P probably benign Het
Dnal1 T A 12: 84,178,163 (GRCm39) probably null Het
Eif4g1 T A 16: 20,502,277 (GRCm39) M914K probably damaging Het
Epb41l2 C A 10: 25,317,584 (GRCm39) Q34K probably benign Het
Esyt1 T G 10: 128,352,422 (GRCm39) N730H possibly damaging Het
Fbxo15 T G 18: 84,980,739 (GRCm39) I238S probably damaging Het
Foxn3 T C 12: 99,307,727 (GRCm39) K204E probably damaging Het
Gtf2i G A 5: 134,303,434 (GRCm39) S279L probably benign Het
Hhatl A G 9: 121,618,931 (GRCm39) M67T probably damaging Het
Itpkc C A 7: 26,911,777 (GRCm39) R598L probably damaging Het
Itprid2 T C 2: 79,492,689 (GRCm39) S1079P probably damaging Het
Jkampl A T 6: 73,446,329 (GRCm39) N73K probably benign Het
Kctd18 A T 1: 57,998,311 (GRCm39) I263N probably damaging Het
Map1a T A 2: 121,138,528 (GRCm39) M3002K probably damaging Het
Med13l T A 5: 118,866,709 (GRCm39) S588T possibly damaging Het
Pcdh8 T A 14: 80,008,426 (GRCm39) I46F probably damaging Het
Prdm6 T C 18: 53,685,137 (GRCm39) V392A probably benign Het
Ptprt T A 2: 161,743,451 (GRCm39) I497F probably benign Het
Rorc A G 3: 94,282,366 (GRCm39) H22R probably benign Het
Scaf8 A G 17: 3,246,241 (GRCm39) I777V possibly damaging Het
Shroom1 A T 11: 53,356,468 (GRCm39) R444* probably null Het
Srcap C T 7: 127,148,869 (GRCm39) T2030I probably damaging Het
Srgap3 A G 6: 112,793,695 (GRCm39) S94P probably damaging Het
Srsf12 C G 4: 33,226,070 (GRCm39) P111R probably damaging Het
Ttc27 C T 17: 75,054,669 (GRCm39) T325I probably damaging Het
Ucp1 A C 8: 84,020,628 (GRCm39) H146P probably damaging Het
Vmn1r167 A T 7: 23,204,200 (GRCm39) I272N probably benign Het
Vmn2r1 T C 3: 63,994,034 (GRCm39) S127P possibly damaging Het
Vtcn1 A G 3: 100,791,145 (GRCm39) D61G probably benign Het
Zfp994 A T 17: 22,420,227 (GRCm39) C241S 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
IGL03407:Dnajc10 APN 2 80,176,985 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CACGTATAAAAGTTGTGTTGCGG -3'
(R):5'- CAGCTTCTTGACTGGAACTTCG -3'

Sequencing Primer
(F):5'- ATCGTTAACTCCAGATCCAGGGG -3'
(R):5'- CTTCTTGACTGGAACTTCGTAACTAG -3'
Posted On 2020-09-02