Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02289:Dnajc10'

290028

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 #

IGL02289

Quality Score

Status

Chromosome

Chromosomal Location

80145810-80184387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80170870 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 454 (H454N)

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: H454N

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006
AA Change: H454N

Domain	Start	End	E-Value	Type
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: ENSMUST00000153093

Meta Mutation Damage Score

0.1418

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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,457,424 (GRCm39)	V230E	probably damaging	Het
Dsel	C	T	1: 111,787,832 (GRCm39)	W901*	probably null	Het
Eeig1	A	T	2: 32,456,367 (GRCm39)	Q343L	possibly damaging	Het
Frk	A	C	10: 34,360,362 (GRCm39)	E121A	probably damaging	Het
Mapk7	G	T	11: 61,380,785 (GRCm39)		probably null	Het
Matn1	A	T	4: 130,679,146 (GRCm39)		probably benign	Het
Nup155	T	C	15: 8,160,977 (GRCm39)	L554P	probably damaging	Het
Or2b7	C	T	13: 21,739,758 (GRCm39)	V145I	probably benign	Het
Or8k32	A	T	2: 86,368,792 (GRCm39)	F156I	probably benign	Het
Or8k37	A	G	2: 86,469,863 (GRCm39)	L63P	probably damaging	Het
Pdia2	T	C	17: 26,416,864 (GRCm39)	E164G	possibly damaging	Het
Robo4	G	A	9: 37,319,496 (GRCm39)	G582D	probably damaging	Het
Stat3	A	T	11: 100,796,720 (GRCm39)	V110E	possibly damaging	Het
Trim42	G	A	9: 97,241,286 (GRCm39)	R649C	probably damaging	Het
Vmn2r69	T	A	7: 85,056,054 (GRCm39)	I695F	probably damaging	Het

Other mutations in Dnajc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

2015-04-16