Incidental Mutation 'IGL03026:Dnajc10'
ID408179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dnajc10
Ensembl Gene ENSMUSG00000027006
Gene NameDnaJ heat shock protein family (Hsp40) member C10
SynonymsJPDI, ERdj5, D2Ertd706e, 1200006L06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL03026
Quality Score
Status
Chromosome2
Chromosomal Location80315466-80354043 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80349303 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 727 (D727G)
Ref Sequence ENSEMBL: ENSMUSP00000028392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028392]
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: D727G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: D727G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,519,690 V154A possibly damaging Het
Adcy4 T C 14: 55,778,010 Y481C probably damaging Het
Adcy5 T C 16: 35,157,042 V315A probably benign Het
Atf7ip G A 6: 136,605,382 S1130N possibly damaging Het
Ctss A G 3: 95,538,830 D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 K254N probably benign Het
Dsg3 G A 18: 20,536,972 probably null Het
Ehmt1 T C 2: 24,852,734 M478V probably benign Het
Enam A T 5: 88,503,299 N889I probably benign Het
Exo1 G T 1: 175,908,437 *148L probably null Het
Fam133b G T 5: 3,559,646 probably benign Het
Foxj2 G A 6: 122,838,180 A392T probably benign Het
Gbp4 G T 5: 105,120,000 A460E possibly damaging Het
Has3 A T 8: 106,878,610 I483F probably benign Het
Hist1h1b G A 13: 21,779,947 probably benign Het
Irak2 T A 6: 113,676,651 V260E probably damaging Het
Kcnj8 T C 6: 142,566,473 probably null Het
Lama5 A G 2: 180,195,967 V936A probably benign Het
Lmo7 C T 14: 101,929,333 probably benign Het
Morc3 T A 16: 93,862,724 probably benign Het
Muc6 T C 7: 141,640,147 probably benign Het
Nkx2-2 T C 2: 147,185,822 Y66C probably damaging Het
Oaz1 G A 10: 80,828,800 probably benign Het
Olfr1392 A T 11: 49,293,458 I46F probably damaging Het
Olfr768 G A 10: 129,093,188 A262V possibly damaging Het
Olfr808 A T 10: 129,768,041 M182L probably benign Het
Pkd2 A T 5: 104,494,887 probably benign Het
Plcb4 A G 2: 135,950,429 probably benign Het
Ralgapa2 C A 2: 146,460,775 probably benign Het
Rfx7 T C 9: 72,619,685 S1386P probably damaging Het
Ric1 T G 19: 29,599,833 W1046G probably benign Het
Rrp12 C A 19: 41,872,997 R957L probably damaging Het
Scn7a T C 2: 66,676,098 I1482M probably damaging Het
Sema3b T C 9: 107,602,063 N236S probably damaging Het
Skint6 T A 4: 112,991,244 probably null Het
Slfn5 T C 11: 82,956,561 Y91H probably benign Het
Sptbn2 T A 19: 4,724,233 probably null Het
Szt2 A G 4: 118,391,849 L546P probably benign Het
Tas1r3 A G 4: 155,861,843 probably benign Het
Trim75 A G 8: 64,983,786 V4A probably benign Het
Usp19 T C 9: 108,493,145 L56P probably damaging Het
Vmn1r181 T G 7: 23,984,575 I155S possibly damaging Het
Vmn2r43 G T 7: 8,255,097 D372E probably benign Het
Vstm2b C A 7: 40,902,521 S99* probably null Het
Wdr11 A G 7: 129,624,336 D735G probably damaging Het
Wee2 T A 6: 40,461,981 M346K probably benign Het
Zap70 A G 1: 36,779,717 K371R possibly damaging Het
Zfp990 A T 4: 145,537,110 H226L possibly damaging Het
Other mutations in Dnajc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Dnajc10 APN 2 80324752 splice site probably benign
IGL01420:Dnajc10 APN 2 80345023 missense possibly damaging 0.81
IGL01466:Dnajc10 APN 2 80321287 missense probably benign 0.00
IGL01645:Dnajc10 APN 2 80340527 missense possibly damaging 0.46
IGL01929:Dnajc10 APN 2 80328076 missense probably damaging 0.99
IGL01958:Dnajc10 APN 2 80321304 splice site probably benign
IGL02205:Dnajc10 APN 2 80349358 missense possibly damaging 0.74
IGL02289:Dnajc10 APN 2 80340526 missense probably damaging 0.98
IGL02661:Dnajc10 APN 2 80326740 splice site probably benign
IGL02865:Dnajc10 APN 2 80331303 missense probably benign
IGL03407:Dnajc10 APN 2 80346641 missense probably damaging 1.00
PIT4283001:Dnajc10 UTSW 2 80331395 missense probably benign 0.19
R0092:Dnajc10 UTSW 2 80325682 missense probably damaging 0.97
R0457:Dnajc10 UTSW 2 80344946 missense possibly damaging 0.65
R1414:Dnajc10 UTSW 2 80347677 missense probably damaging 0.99
R1739:Dnajc10 UTSW 2 80347662 missense probably benign 0.03
R2126:Dnajc10 UTSW 2 80350734 critical splice donor site probably null
R3717:Dnajc10 UTSW 2 80324745 splice site probably benign
R3718:Dnajc10 UTSW 2 80324745 splice site probably benign
R4020:Dnajc10 UTSW 2 80344952 missense probably damaging 1.00
R4453:Dnajc10 UTSW 2 80346623 missense probably damaging 0.98
R4585:Dnajc10 UTSW 2 80347778 missense probably damaging 1.00
R4586:Dnajc10 UTSW 2 80347778 missense probably damaging 1.00
R4772:Dnajc10 UTSW 2 80340526 missense probably damaging 0.98
R5653:Dnajc10 UTSW 2 80349368 missense probably damaging 1.00
R6157:Dnajc10 UTSW 2 80317391 start gained probably benign
R6263:Dnajc10 UTSW 2 80343948 missense probably damaging 1.00
R6303:Dnajc10 UTSW 2 80350664 missense probably benign 0.07
R6932:Dnajc10 UTSW 2 80331336 missense probably benign
R7104:Dnajc10 UTSW 2 80340815 missense probably damaging 1.00
R7181:Dnajc10 UTSW 2 80319243 nonsense probably null
R7458:Dnajc10 UTSW 2 80324750 splice site probably null
R7842:Dnajc10 UTSW 2 80345065 missense probably benign 0.04
R7925:Dnajc10 UTSW 2 80345065 missense probably benign 0.04
X0018:Dnajc10 UTSW 2 80350674 missense probably damaging 0.97
X0024:Dnajc10 UTSW 2 80344962 missense probably benign 0.19
Z1177:Dnajc10 UTSW 2 80319233 missense probably damaging 1.00
Posted On2016-08-02