Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02080:Dnajc1'

186102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc1

Ensembl Gene

ENSMUSG00000026740

Gene Name

DnaJ heat shock protein family (Hsp40) member C1

Synonyms

4733401K02Rik, MTJ1, Dnajl1, D230036H06Rik, ERdj1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL02080

Quality Score

Status

Chromosome

Chromosomal Location

18195654-18392830 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 18316348 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028072] [ENSMUST00000091418] [ENSMUST00000166495]

Predicted Effect

probably benign
Transcript: ENSMUST00000028072

SMART Domains

Protein: ENSMUSP00000028072
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
DnaJ	60	104	5.4e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091418

SMART Domains

Protein: ENSMUSP00000088980
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
DnaJ	60	117	5.73e-23	SMART
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	269	281	N/A	INTRINSIC
SANT	324	375	2.06e-6	SMART
low complexity region	416	434	N/A	INTRINSIC
low complexity region	438	451	N/A	INTRINSIC
SANT	491	543	3.56e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153055

Predicted Effect

probably benign
Transcript: ENSMUST00000163130

SMART Domains

Protein: ENSMUSP00000129176
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
DnaJ	34	78	5.4e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165793

Predicted Effect

probably benign
Transcript: ENSMUST00000166495

SMART Domains

Protein: ENSMUSP00000126321
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	43	N/A	INTRINSIC
DnaJ	60	117	5.73e-23	SMART
transmembrane domain	149	171	N/A	INTRINSIC
low complexity region	177	194	N/A	INTRINSIC
low complexity region	269	281	N/A	INTRINSIC
SANT	324	375	2.06e-6	SMART
low complexity region	416	434	N/A	INTRINSIC
low complexity region	438	451	N/A	INTRINSIC
SANT	491	543	3.56e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168723

SMART Domains

Protein: ENSMUSP00000126716
Gene: ENSMUSG00000026740

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	74	86	N/A	INTRINSIC
SANT	129	180	2.06e-6	SMART
low complexity region	221	239	N/A	INTRINSIC
low complexity region	243	256	N/A	INTRINSIC
SANT	296	348	3.56e-10	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd33	A	G	7: 43,528,850		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dpysl2	A	T	14: 66,829,945	D172E	probably benign	Het
Fbxw28	A	G	9: 109,339,573	L17P	probably damaging	Het
Gprin3	C	A	6: 59,354,191	R377M	possibly damaging	Het
Hectd4	T	A	5: 121,366,606		probably benign	Het
Kif26a	G	T	12: 112,157,566	A202S	probably damaging	Het
Lrig2	A	T	3: 104,464,124	D754E	probably damaging	Het
Lrit2	A	G	14: 37,069,074	K237E	probably damaging	Het
Med13	A	G	11: 86,283,812	V1729A	probably damaging	Het
Mon2	A	G	10: 123,052,190	S100P	probably damaging	Het
Mrnip	A	G	11: 50,197,675	D166G	probably benign	Het
Olfr1496	T	C	19: 13,781,482	F288S	probably damaging	Het
Olfr728	A	T	14: 50,140,122	N172K	probably damaging	Het
Pkd1l1	T	A	11: 8,961,345	N311Y	unknown	Het
Ppara	A	G	15: 85,789,019	D137G	possibly damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Scube2	A	G	7: 109,852,478	F156S	probably damaging	Het
Setd2	T	G	9: 110,547,450		probably null	Het
Slc24a2	A	G	4: 87,227,146	C224R	probably damaging	Het
Snrnp48	A	G	13: 38,216,490	D191G	probably damaging	Het
Spo11	A	G	2: 172,989,395	Y266C	probably damaging	Het
Tmem144	G	A	3: 79,822,759		probably benign	Het
Tsacc	A	T	3: 88,295,389		probably null	Het
Unc5d	T	C	8: 28,891,288		probably null	Het
Unc79	A	G	12: 103,001,975	I153M	probably damaging	Het
Vgll4	A	G	6: 114,862,798	C178R	probably damaging	Het
Vmn2r90	T	A	17: 17,712,858	S227T	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Dnajc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Dnajc1	APN	2	18308902	missense	possibly damaging	0.80
IGL01301:Dnajc1	APN	2	18308834	missense	probably damaging	0.99
IGL03058:Dnajc1	APN	2	18217321	missense	possibly damaging	0.90
ANU18:Dnajc1	UTSW	2	18308834	missense	probably damaging	0.99
R0537:Dnajc1	UTSW	2	18307956	missense	possibly damaging	0.63
R0630:Dnajc1	UTSW	2	18231801	missense	probably damaging	1.00
R1187:Dnajc1	UTSW	2	18284709	missense	probably benign	0.01
R1511:Dnajc1	UTSW	2	18222727	missense	possibly damaging	0.88
R1844:Dnajc1	UTSW	2	18294027	nonsense	probably null
R1848:Dnajc1	UTSW	2	18219713	missense	probably damaging	1.00
R2174:Dnajc1	UTSW	2	18307951	missense	probably damaging	0.99
R2199:Dnajc1	UTSW	2	18308899	missense	probably damaging	1.00
R2211:Dnajc1	UTSW	2	18392475	missense	probably damaging	0.99
R2471:Dnajc1	UTSW	2	18219816	missense	possibly damaging	0.75
R4758:Dnajc1	UTSW	2	18308946	nonsense	probably null
R5790:Dnajc1	UTSW	2	18307087	intron	probably benign
R5802:Dnajc1	UTSW	2	18284739	missense	probably benign	0.41
R5950:Dnajc1	UTSW	2	18306941	intron	probably benign
R6049:Dnajc1	UTSW	2	18231700	splice site	probably null
R6770:Dnajc1	UTSW	2	18217271	unclassified	probably benign
R7242:Dnajc1	UTSW	2	18293972	missense	probably benign	0.06
R7462:Dnajc1	UTSW	2	18308899	missense	probably damaging	0.99
R7716:Dnajc1	UTSW	2	18219873	missense	probably benign	0.00
R7846:Dnajc1	UTSW	2	18219893	missense	possibly damaging	0.56
R7929:Dnajc1	UTSW	2	18219893	missense	possibly damaging	0.56

Posted On

2014-05-07