Incidental Mutation 'R4585:Dnajc10'
ID 343984
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 041806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R4585 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 80145810-80184387 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 80178122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 710 (F710V)
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: F710V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: F710V

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
Meta Mutation Damage Score 0.7420 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (90/91)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T C 5: 4,026,151 (GRCm39) S1269P probably benign Het
Akr7a5 G T 4: 139,038,238 (GRCm39) R58L probably benign Het
Art2a A T 7: 101,203,956 (GRCm39) L194* probably null Het
Aurkaip1 C A 4: 155,917,091 (GRCm39) A113D possibly damaging Het
Bsn T C 9: 107,987,662 (GRCm39) probably benign Het
Ccdc175 T G 12: 72,221,953 (GRCm39) D123A possibly damaging Het
Ccdc7b A G 8: 129,837,401 (GRCm39) T131A probably benign Het
Ccnt2 T C 1: 127,730,766 (GRCm39) S548P probably damaging Het
Cep126 T C 9: 8,103,338 (GRCm39) Q224R probably damaging Het
Cic A T 7: 24,972,203 (GRCm39) I645L probably benign Het
Cngb1 C T 8: 96,023,756 (GRCm39) probably null Het
Col13a1 T C 10: 61,723,024 (GRCm39) probably null Het
Corin A T 5: 72,487,042 (GRCm39) V706D probably damaging Het
Crebrf A G 17: 26,981,229 (GRCm39) K535R probably damaging Het
Cuzd1 G A 7: 130,916,529 (GRCm39) P310L probably damaging Het
Cxcr5 T A 9: 44,425,442 (GRCm39) I72F probably benign Het
Dapp1 T C 3: 137,644,932 (GRCm39) Q148R probably benign Het
Dcaf17 T A 2: 70,918,924 (GRCm39) S499R probably benign Het
Defb3 A T 8: 19,345,172 (GRCm39) I43F possibly damaging Het
Dlgap2 G A 8: 14,777,999 (GRCm39) probably null Het
Dnah8 A G 17: 30,970,541 (GRCm39) D2684G probably benign Het
Ep400 G A 5: 110,901,725 (GRCm39) T464I probably damaging Het
Epc1 G A 18: 6,441,157 (GRCm39) Q14* probably null Het
Eral1 A T 11: 77,969,130 (GRCm39) N123K probably damaging Het
Ercc5 G A 1: 44,198,017 (GRCm39) V145I probably benign Het
Evc A G 5: 37,481,057 (GRCm39) S263P probably damaging Het
Fancc A T 13: 63,495,378 (GRCm39) M182K probably benign Het
Fbxl3 G T 14: 103,320,526 (GRCm39) A355E probably damaging Het
Glra3 C A 8: 56,542,028 (GRCm39) T257K probably damaging Het
Gm12789 A G 4: 101,847,159 (GRCm39) Y148C possibly damaging Het
Gm14393 C A 2: 174,904,497 (GRCm39) probably benign Het
Gm19965 T A 1: 116,749,508 (GRCm39) N396K probably benign Het
Gm27013 A T 6: 130,498,003 (GRCm39) noncoding transcript Het
Gmcl1 A G 6: 86,699,605 (GRCm39) S141P probably damaging Het
Gsdmd T A 15: 75,737,600 (GRCm39) probably null Het
Gtf2a1 C T 12: 91,529,700 (GRCm39) V338I possibly damaging Het
H2ac15 T C 13: 21,937,882 (GRCm39) N39S possibly damaging Het
Hap1 G A 11: 100,245,550 (GRCm39) T138M probably benign Het
Ints2 G T 11: 86,140,101 (GRCm39) R244S probably damaging Het
Itgb4 T C 11: 115,884,151 (GRCm39) V945A probably damaging Het
Itih2 C T 2: 10,115,211 (GRCm39) S387N probably benign Het
Klra2 T A 6: 131,207,120 (GRCm39) D163V probably benign Het
Lctl T C 9: 64,038,882 (GRCm39) S324P probably damaging Het
Lrrc24 C A 15: 76,607,889 (GRCm39) R43L probably damaging Het
Mogs G T 6: 83,095,619 (GRCm39) R812L possibly damaging Het
Mroh5 T A 15: 73,661,120 (GRCm39) T467S probably benign Het
Mtap G A 4: 89,090,511 (GRCm39) V194I probably benign Het
Myoz1 A G 14: 20,700,663 (GRCm39) W185R probably damaging Het
Nufip2 T C 11: 77,632,554 (GRCm39) V690A unknown Het
Obox1 A T 7: 15,290,152 (GRCm39) N165I possibly damaging Het
Or1j1 C T 2: 36,702,537 (GRCm39) C189Y probably damaging Het
Or4b1d T A 2: 89,968,558 (GRCm39) E308D probably benign Het
Or4c113 T G 2: 88,885,498 (GRCm39) I91L possibly damaging Het
Or6c35 A G 10: 129,169,142 (GRCm39) T131A probably benign Het
Pabpc6 A G 17: 9,888,002 (GRCm39) L183P probably damaging Het
Pcdh15 C T 10: 74,460,116 (GRCm39) R1355W probably damaging Het
Pcdhgb8 C A 18: 37,895,413 (GRCm39) A161E probably benign Het
Pex1 A G 5: 3,683,885 (GRCm39) Y1127C probably damaging Het
Phc2 A T 4: 128,637,303 (GRCm39) H563L probably damaging Het
Plekha2 C A 8: 25,533,685 (GRCm39) E291* probably null Het
Qser1 C A 2: 104,617,138 (GRCm39) V1225L probably benign Het
Ralgapa2 A T 2: 146,156,944 (GRCm39) D1882E probably damaging Het
Rgs17 T C 10: 5,792,596 (GRCm39) D70G probably benign Het
Runx1t1 A T 4: 13,889,864 (GRCm39) T598S unknown Het
Scn2a T A 2: 65,573,395 (GRCm39) probably null Het
Serpinb10 T A 1: 107,474,779 (GRCm39) C314S probably benign Het
Setbp1 A C 18: 79,130,164 (GRCm39) S23A probably benign Het
Sh3pxd2b A G 11: 32,346,479 (GRCm39) D116G possibly damaging Het
Slc4a1 G T 11: 102,252,245 (GRCm39) probably benign Het
Snx19 T C 9: 30,351,491 (GRCm39) L155P probably damaging Het
Sox2 A G 3: 34,705,193 (GRCm39) N210S probably benign Het
Spag6 T C 2: 18,736,958 (GRCm39) probably null Het
Speer4b A T 5: 27,703,036 (GRCm39) L154Q probably null Het
Strn3 T A 12: 51,696,953 (GRCm39) E259D probably benign Het
Tenm1 G A X: 41,626,856 (GRCm39) Q1931* probably null Het
Trp53bp1 C G 2: 121,038,432 (GRCm39) G1469R probably damaging Het
Ttc8 C A 12: 98,948,789 (GRCm39) Q492K probably benign Het
Ttn T C 2: 76,798,747 (GRCm39) H509R probably benign Het
Utrn T A 10: 12,564,050 (GRCm39) H1270L probably benign Het
Vopp1 G A 6: 57,731,533 (GRCm39) P153S probably damaging Het
Wdfy4 T A 14: 32,809,912 (GRCm39) I1770F possibly damaging Het
Zfp14 G T 7: 29,738,341 (GRCm39) Q215K probably damaging Het
Zfp473 A T 7: 44,382,376 (GRCm39) Y651* probably null Het
Zfp735 G T 11: 73,580,550 (GRCm39) E16D possibly 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
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
Predicted Primers PCR Primer
(F):5'- CAGTGTTGCTGTATGTAATGCTTAC -3'
(R):5'- CACACTCGGACCCTTGTAATCTG -3'

Sequencing Primer
(F):5'- GCTTACAGTAATGCTTACAGTATTGC -3'
(R):5'- TTCCAGTCAGCCAGGGTTATAAAG -3'
Posted On 2015-09-24