Mutagenetix > Incidental Mutation

Incidental Mutation 'R2262:Dnajc3'

243898

Institutional Source

Beutler Lab

Gene Symbol

Dnajc3

Ensembl Gene

ENSMUSG00000022136

Gene Name

DnaJ heat shock protein family (Hsp40) member C3

Synonyms

Dnajc3, Dnajc3a, mp58, Dnajc3b, Prkri, p58IPK

MMRRC Submission

040262-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R2262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119175388-119219109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119198232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 118 (Q118R)

Ref Sequence

ENSEMBL: ENSMUSP00000022734 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022734]

AlphaFold

Q91YW3

PDB Structure

Crystal Structure of P58(IPK) TPR Domain at 2.5 A [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022734
AA Change: Q118R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136
AA Change: Q118R

Domain	Start	End	E-Value	Type
TPR	37	70	2.02e1	SMART
TPR	71	104	2.52e-1	SMART
TPR	105	138	4.99e-5	SMART
TPR	188	221	1.16e0	SMART
TPR	222	255	4.96e0	SMART
TPR	306	339	4.1e1	SMART
TPR	340	373	6.58e-5	SMART
DnaJ	393	454	6.88e-26	SMART

Meta Mutation Damage Score

0.3150

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice are smaller in size, have a lower percentage of body fat and develop a gradual onset of glucosuria and hyperglycemia associated with increasing apoptosis of pancreatic islet cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahdc1	A	G	4: 132,790,474 (GRCm39)	T572A	unknown	Het
Bco1	T	C	8: 117,859,764 (GRCm39)	L489S	probably damaging	Het
Brinp1	A	G	4: 68,747,591 (GRCm39)	Y171H	probably damaging	Het
C1rl	A	T	6: 124,483,907 (GRCm39)	I186F	probably damaging	Het
Cacna1d	A	G	14: 30,212,973 (GRCm39)	V29A	possibly damaging	Het
Calcrl	T	C	2: 84,175,517 (GRCm39)	D279G	probably damaging	Het
Cass4	T	C	2: 172,269,174 (GRCm39)	S421P	probably damaging	Het
Casz1	G	T	4: 149,013,556 (GRCm39)	R40L	probably damaging	Het
Cdh23	A	G	10: 60,152,907 (GRCm39)	V2372A	probably damaging	Het
Cdk17	T	A	10: 93,047,820 (GRCm39)	S56T	possibly damaging	Het
Ces2h	T	A	8: 105,743,191 (GRCm39)	M142K	probably damaging	Het
Cfap161	C	T	7: 83,442,580 (GRCm39)	V78I	probably benign	Het
Chst8	T	A	7: 34,375,435 (GRCm39)	M135L	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dcc	C	T	18: 71,507,622 (GRCm39)	E917K	probably damaging	Het
Dnah11	T	A	12: 117,843,760 (GRCm39)	M4362L	probably benign	Het
Dnah11	T	C	12: 117,930,374 (GRCm39)	T3324A	probably damaging	Het
Dnah8	A	G	17: 30,892,809 (GRCm39)	N798S	probably damaging	Het
Dok4	A	T	8: 95,593,140 (GRCm39)	C182S	probably damaging	Het
Fnbp4	G	T	2: 90,587,748 (GRCm39)	L375F	probably damaging	Het
Gbp8	T	C	5: 105,163,999 (GRCm39)	Q433R	possibly damaging	Het
Glt1d1	A	G	5: 127,734,176 (GRCm39)	M117V	probably benign	Het
Hcar1	A	C	5: 124,016,649 (GRCm39)	D347E	probably benign	Het
Kif16b	T	C	2: 142,582,837 (GRCm39)	K563E	probably damaging	Het
Klra17	A	G	6: 129,851,757 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,986,593 (GRCm39)	M140I	probably benign	Het
Lamb2	A	T	9: 108,357,809 (GRCm39)	I111F	probably damaging	Het
Nell1	C	T	7: 50,210,569 (GRCm39)	T494I	possibly damaging	Het
Noa1	G	A	5: 77,457,651 (GRCm39)	Q85*	probably null	Het
Nsun4	A	T	4: 115,910,147 (GRCm39)	S138T	probably benign	Het
Pcdh1	A	T	18: 38,331,710 (GRCm39)	L431H	probably benign	Het
Pde1a	T	A	2: 79,959,275 (GRCm39)		probably benign	Het
Pdgfra	T	C	5: 75,346,184 (GRCm39)	V778A	probably benign	Het
Plekhj1	A	T	10: 80,632,306 (GRCm39)	N55K	probably benign	Het
Ptpn20	A	G	14: 33,334,268 (GRCm39)	M49V	probably benign	Het
Rbm6	A	G	9: 107,668,289 (GRCm39)	L547P	probably damaging	Het
Rexo1	C	T	10: 80,385,403 (GRCm39)	E552K	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Saxo1	C	T	4: 86,397,212 (GRCm39)	D109N	probably damaging	Het
Setd2	A	G	9: 110,390,311 (GRCm39)		probably benign	Het
Slc22a28	T	C	19: 8,048,573 (GRCm39)	Y358C	probably benign	Het
Sptbn4	T	A	7: 27,133,782 (GRCm39)	D77V	probably damaging	Het
Ssh1	T	C	5: 114,080,764 (GRCm39)	S867G	possibly damaging	Het
Stmn2	T	C	3: 8,606,955 (GRCm39)	F25S	probably damaging	Het
Tcirg1	C	T	19: 3,953,591 (GRCm39)	R112H	possibly damaging	Het
Tekt4	T	A	17: 25,695,485 (GRCm39)	S439R	possibly damaging	Het
Trpc1	T	A	9: 95,588,986 (GRCm39)	N746I	probably damaging	Het
Tuba1c	A	G	15: 98,935,757 (GRCm39)	H406R	probably damaging	Het
Uqcrfs1	G	A	13: 30,725,090 (GRCm39)	S150L	probably benign	Het
Vcp	T	C	4: 42,980,828 (GRCm39)	T761A	probably benign	Het
Vmn1r68	T	C	7: 10,261,372 (GRCm39)	E242G	probably damaging	Het
Vmn2r29	T	A	7: 7,243,085 (GRCm39)	H22L	possibly damaging	Het
Vmn2r32	T	A	7: 7,477,618 (GRCm39)	I258L	probably benign	Het
Vmn2r37	T	A	7: 9,220,943 (GRCm39)	T307S	probably damaging	Het
Vmn2r6	T	C	3: 64,464,090 (GRCm39)	N248S	probably benign	Het
Vmn2r63	G	T	7: 42,578,031 (GRCm39)	T169N	probably benign	Het
Vmn2r67	T	C	7: 84,786,182 (GRCm39)	T608A	probably damaging	Het
Wdr87-ps	T	C	7: 29,231,987 (GRCm39)		noncoding transcript	Het
Xpo1	T	A	11: 23,234,634 (GRCm39)		probably null	Het
Zfp180	T	G	7: 23,804,049 (GRCm39)	V156G	probably benign	Het
Zfp37	A	T	4: 62,109,873 (GRCm39)	L397Q	probably damaging	Het

Other mutations in Dnajc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Dnajc3	APN	14	119,198,274 (GRCm39)	critical splice donor site	probably null
ghostly	UTSW	14	119,208,192 (GRCm39)	nonsense	probably null
vanishing	UTSW	14	119,209,799 (GRCm39)	nonsense	probably null
R1438:Dnajc3	UTSW	14	119,205,518 (GRCm39)	missense	probably benign
R1712:Dnajc3	UTSW	14	119,195,307 (GRCm39)	missense	probably damaging	1.00
R2257:Dnajc3	UTSW	14	119,210,114 (GRCm39)	missense	probably benign
R2261:Dnajc3	UTSW	14	119,198,232 (GRCm39)	missense	probably damaging	0.98
R2307:Dnajc3	UTSW	14	119,190,633 (GRCm39)	critical splice donor site	probably null
R4963:Dnajc3	UTSW	14	119,215,585 (GRCm39)	missense	probably benign	0.06
R4996:Dnajc3	UTSW	14	119,209,839 (GRCm39)	missense	probably benign
R5398:Dnajc3	UTSW	14	119,209,799 (GRCm39)	nonsense	probably null
R5539:Dnajc3	UTSW	14	119,208,159 (GRCm39)	missense	probably damaging	0.98
R5988:Dnajc3	UTSW	14	119,195,376 (GRCm39)	missense	possibly damaging	0.54
R6032:Dnajc3	UTSW	14	119,205,443 (GRCm39)	missense	possibly damaging	0.69
R6032:Dnajc3	UTSW	14	119,205,443 (GRCm39)	missense	possibly damaging	0.69
R7361:Dnajc3	UTSW	14	119,175,576 (GRCm39)	missense	probably benign	0.01
R7486:Dnajc3	UTSW	14	119,209,816 (GRCm39)	missense	probably benign	0.01
R8086:Dnajc3	UTSW	14	119,208,192 (GRCm39)	nonsense	probably null
R8092:Dnajc3	UTSW	14	119,207,994 (GRCm39)	splice site	probably null
R8517:Dnajc3	UTSW	14	119,190,589 (GRCm39)	nonsense	probably null
R9685:Dnajc3	UTSW	14	119,209,775 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CTGTAGTTATAGAAATGTGCCTCAG -3'
(R):5'- TGTGCGTGCACCTGACTTAC -3'

Sequencing Primer
(F):5'- TCAGTAATAAGGCAAACAAACATTGG -3'
(R):5'- ATCAGCGTTTGACCCCAGGATAG -3'

Posted On

2014-10-16