Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Dnajc10'

181487

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

JPDI, ERdj5, D2Ertd706e, 1200006L06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

80315466-80354043 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 80321304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 benign
Transcript: ENSMUST00000028392

SMART Domains

Protein: ENSMUSP00000028392
Gene: ENSMUSG00000027006

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: 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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek11	T	C	9: 105,300,303	T250A	probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	Het

Other mutations in Dnajc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8123:Dnajc10	UTSW	2	80349360	missense	probably damaging	1.00
R8276:Dnajc10	UTSW	2	80349270	missense	probably benign
R8365:Dnajc10	UTSW	2	80346558	missense	probably damaging	1.00
R8915:Dnajc10	UTSW	2	80317457	missense	possibly damaging	0.62
R9025:Dnajc10	UTSW	2	80349293	missense	probably damaging	1.00
R9169:Dnajc10	UTSW	2	80332971	missense	probably benign
R9262:Dnajc10	UTSW	2	80346621	missense	probably benign	0.17
R9292:Dnajc10	UTSW	2	80346572	missense	probably benign
R9332:Dnajc10	UTSW	2	80344983	missense	probably benign	0.35
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 On

2014-05-07