Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01969:Dnajc12'

181631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc12

Ensembl Gene

ENSMUSG00000036764

Gene Name

DnaJ heat shock protein family (Hsp40) member C12

Synonyms

Jdp1, J domain protein 1, mJDP1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL01969

Quality Score

Status

Chromosome

Chromosomal Location

63218222-63244619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63231609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 42 (H42N)

Ref Sequence

ENSEMBL: ENSMUSP00000041298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043317] [ENSMUST00000129625]

AlphaFold

Q9R022

Predicted Effect

probably damaging
Transcript: ENSMUST00000043317
AA Change: H42N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041298
Gene: ENSMUSG00000036764
AA Change: H42N

Domain	Start	End	E-Value	Type
DnaJ	13	71	1.3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136832

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 a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	C	A	8: 124,207,170 (GRCm39)	P74H	probably damaging	Het
Aire	T	A	10: 77,878,816 (GRCm39)	D77V	probably damaging	Het
Ank2	T	A	3: 126,746,872 (GRCm39)	H571L	possibly damaging	Het
Apol10b	T	C	15: 77,472,885 (GRCm39)		probably null	Het
Cacna2d2	A	T	9: 107,386,415 (GRCm39)	M181L	probably benign	Het
Ccnl1	T	C	3: 65,855,908 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,760,138 (GRCm39)	E1961G	possibly damaging	Het
Eml4	T	C	17: 83,753,409 (GRCm39)	V248A	possibly damaging	Het
Epha10	A	C	4: 124,779,670 (GRCm39)	K172T	probably damaging	Het
Fat1	T	C	8: 45,405,636 (GRCm39)	Y796H	probably damaging	Het
Gpr176	A	C	2: 118,110,118 (GRCm39)	F380L	probably damaging	Het
Guca1a	A	T	17: 47,711,268 (GRCm39)	M26K	probably damaging	Het
Gucy2g	T	G	19: 55,215,870 (GRCm39)	M501L	probably benign	Het
Herc2	T	C	7: 55,835,579 (GRCm39)		probably benign	Het
Itgav	A	G	2: 83,633,627 (GRCm39)	E1028G	probably damaging	Het
Itpr1	A	G	6: 108,354,652 (GRCm39)	T179A	probably damaging	Het
Lpin2	A	G	17: 71,538,502 (GRCm39)	T383A	probably benign	Het
Midn	A	G	10: 79,991,093 (GRCm39)	T325A	probably benign	Het
Mpdz	A	G	4: 81,276,961 (GRCm39)	Y788H	probably damaging	Het
Muc1	A	T	3: 89,139,313 (GRCm39)	D571V	probably damaging	Het
Myo3a	A	T	2: 22,302,499 (GRCm39)	H316L	probably benign	Het
Nagpa	T	C	16: 5,013,753 (GRCm39)	K362E	probably benign	Het
Ola1	G	A	2: 72,930,490 (GRCm39)	A266V	probably benign	Het
Or1e33	T	C	11: 73,738,435 (GRCm39)	N172S	possibly damaging	Het
Or4a47	A	G	2: 89,666,064 (GRCm39)	I75T	probably benign	Het
Or5b97	C	A	19: 12,878,416 (GRCm39)	A243S	possibly damaging	Het
Otof	A	G	5: 30,539,827 (GRCm39)		probably benign	Het
Pi4ka	A	C	16: 17,196,347 (GRCm39)	V105G	probably benign	Het
Plppr4	G	T	3: 117,122,008 (GRCm39)	T190K	probably damaging	Het
Pnpla3	G	A	15: 84,063,425 (GRCm39)	A268T	probably benign	Het
Ppp6r2	C	T	15: 89,159,713 (GRCm39)	H467Y	probably damaging	Het
Prkd2	C	T	7: 16,599,682 (GRCm39)	T715M	probably damaging	Het
Rusc2	A	G	4: 43,415,738 (GRCm39)	N348S	probably benign	Het
Ska3	A	G	14: 58,049,119 (GRCm39)	V284A	probably benign	Het
Slc23a1	A	T	18: 35,757,807 (GRCm39)	V199D	possibly damaging	Het
Slc6a13	T	C	6: 121,312,601 (GRCm39)	L445P	probably damaging	Het
Smo	A	T	6: 29,755,171 (GRCm39)		probably null	Het
Tmem131	A	G	1: 36,864,541 (GRCm39)	L564S	possibly damaging	Het
Ttc23l	G	A	15: 10,551,520 (GRCm39)	Q69*	probably null	Het

Other mutations in Dnajc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02276:Dnajc12	APN	10	63,244,037 (GRCm39)	missense	probably damaging	1.00
IGL02669:Dnajc12	APN	10	63,233,071 (GRCm39)	missense	probably damaging	0.99
R1473:Dnajc12	UTSW	10	63,233,023 (GRCm39)	missense	probably benign	0.01
R2321:Dnajc12	UTSW	10	63,242,990 (GRCm39)	splice site	probably benign
R4391:Dnajc12	UTSW	10	63,242,838 (GRCm39)	missense	probably benign	0.02
R4703:Dnajc12	UTSW	10	63,222,429 (GRCm39)	splice site	probably null
R4726:Dnajc12	UTSW	10	63,233,087 (GRCm39)	missense	probably damaging	1.00
R5004:Dnajc12	UTSW	10	63,222,486 (GRCm39)	missense	probably benign	0.00
R6291:Dnajc12	UTSW	10	63,233,053 (GRCm39)	missense	probably benign	0.00
R6908:Dnajc12	UTSW	10	63,233,104 (GRCm39)	missense	probably benign	0.00
R7010:Dnajc12	UTSW	10	63,233,059 (GRCm39)	missense	probably benign
R7696:Dnajc12	UTSW	10	63,242,911 (GRCm39)	missense	probably benign
R7812:Dnajc12	UTSW	10	63,242,905 (GRCm39)	missense	probably benign	0.00
R9619:Dnajc12	UTSW	10	63,233,075 (GRCm39)	missense	probably damaging	1.00
Z1177:Dnajc12	UTSW	10	63,233,039 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07