Incidental Mutation 'IGL01367:Dnajc10'
ID76000
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? Possibly non essential (E-score: 0.310) question?
Stock #IGL01367
Quality Score
Status
Chromosome2
Chromosomal Location80315466-80354043 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 80324752 bp
ZygosityHeterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000028392
SMART Domains Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006

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: ENSMUST00000125000
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,454,843 V20A possibly damaging Het
Alk T C 17: 71,900,786 I985V probably damaging Het
Anapc2 A C 2: 25,274,782 R59S possibly damaging Het
Ankhd1 T A 18: 36,578,643 D165E probably benign Het
Asb8 A T 15: 98,136,173 V167D probably damaging Het
Atp5j A G 16: 84,828,472 M81T probably benign Het
Bcl7b A G 5: 135,180,096 T138A probably damaging Het
Cdh23 A G 10: 60,310,787 L2869P probably damaging Het
Chl1 T C 6: 103,729,225 S1174P probably benign Het
Clec2g T C 6: 128,948,736 I36T unknown Het
Denr A G 5: 123,908,119 D4G probably benign Het
Egf C T 3: 129,702,455 probably null Het
Galnt10 A C 11: 57,725,583 Y108S probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Grb10 G T 11: 11,945,599 Q242K probably damaging Het
Hspg2 A T 4: 137,538,489 Y1837F probably damaging Het
Ikzf1 G T 11: 11,748,358 A70S probably benign Het
Il17ra T C 6: 120,481,465 Y526H probably damaging Het
Il34 A T 8: 110,742,743 I186N possibly damaging Het
Iqca G A 1: 90,070,628 probably benign Het
Kntc1 A G 5: 123,758,483 Y136C probably damaging Het
Man2b2 A T 5: 36,814,337 Y257* probably null Het
Map3k19 A G 1: 127,824,351 F421S possibly damaging Het
Melk A G 4: 44,332,907 T288A possibly damaging Het
Mpp2 T C 11: 102,063,309 E187G probably damaging Het
Mtf2 A G 5: 108,104,457 T394A probably benign Het
Neil2 A G 14: 63,191,728 S39P probably damaging Het
Olfr1507 T A 14: 52,490,167 I266F probably benign Het
Pcdh7 A G 5: 58,129,224 E1214G possibly damaging Het
Pcdhb17 G T 18: 37,487,495 Q779H probably benign Het
Pik3c2b A G 1: 133,105,988 I1577V probably benign Het
Pkp3 C T 7: 141,084,076 P389S probably damaging Het
Ppp4r2 T A 6: 100,864,745 Y92* probably null Het
Rnf13 T C 3: 57,807,087 I189T probably benign Het
Serpinf2 T C 11: 75,438,045 D53G probably benign Het
Slc47a2 T A 11: 61,329,781 T184S probably benign Het
Sned1 T C 1: 93,283,214 I1008T probably benign Het
Sorcs3 A T 19: 48,796,375 E1079V probably damaging Het
Trappc8 G A 18: 20,866,119 S318L probably benign Het
Trappc9 A G 15: 72,590,153 S909P probably benign Het
Ttn G A 2: 76,730,139 T29306I probably damaging Het
Twnk G A 19: 45,011,651 R602Q possibly damaging Het
Vmn2r15 A T 5: 109,293,209 I261K probably damaging Het
Vmn2r77 G A 7: 86,811,916 A817T probably damaging Het
Other mutations in Dnajc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03026:Dnajc10 APN 2 80349303 missense probably damaging 0.96
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 On2013-10-07