Mutagenetix > Incidental Mutation

Incidental Mutation 'R8086:Dnajc3'

629673

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

067519-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R8086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119175388-119219109 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 119208192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 276 (E276*)

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 null
Transcript: ENSMUST00000022734
AA Change: E276*

SMART Domains

Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136
AA Change: E276*

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

0.9756

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.9%
20x: 96.4%

Validation Efficiency

98% (51/52)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,055,808 (GRCm39)	H372L		Het
Abcb1a	A	T	5: 8,724,833 (GRCm39)	T89S	probably benign	Het
Ago1	A	G	4: 126,354,774 (GRCm39)	V146A	probably benign	Het
App	T	C	16: 84,917,428 (GRCm39)	Y72C	unknown	Het
Arhgap20	T	C	9: 51,760,563 (GRCm39)	S805P	probably benign	Het
Bak1	T	A	17: 27,239,911 (GRCm39)	R208S	probably benign	Het
Btnl4	A	C	17: 34,692,976 (GRCm39)		probably null	Het
Cacng7	T	C	7: 3,387,518 (GRCm39)	S134P	probably benign	Het
Capn9	A	T	8: 125,334,692 (GRCm39)		probably null	Het
Cox4i1	T	A	8: 121,400,779 (GRCm39)	M148K	probably damaging	Het
Ctnna1	A	G	18: 35,285,713 (GRCm39)	I20V	possibly damaging	Het
Dennd2c	T	A	3: 103,040,661 (GRCm39)	Y309N	possibly damaging	Het
Dnah14	C	A	1: 181,593,797 (GRCm39)	T3380K	probably damaging	Het
Dock10	C	A	1: 80,481,707 (GRCm39)	C1772F	probably benign	Het
Fank1	A	T	7: 133,454,959 (GRCm39)	E26D	possibly damaging	Het
Fcgbp	G	T	7: 27,813,389 (GRCm39)	C2308F	probably damaging	Het
Fyco1	A	T	9: 123,659,471 (GRCm39)	M235K	probably damaging	Het
Gm7361	C	T	5: 26,465,446 (GRCm39)	R148C	probably damaging	Het
Hinfp	C	T	9: 44,210,286 (GRCm39)	R183Q	probably damaging	Het
Hpd	T	C	5: 123,314,252 (GRCm39)	Y221C	probably benign	Het
Hrnr	A	T	3: 93,230,728 (GRCm39)	H322L	unknown	Het
Il6st	T	A	13: 112,631,094 (GRCm39)		probably null	Het
Impa1	T	C	3: 10,387,988 (GRCm39)	K145E	probably benign	Het
Itga9	A	T	9: 118,679,869 (GRCm39)	M847L	probably benign	Het
Itgb6	A	G	2: 60,480,376 (GRCm39)	V320A	probably damaging	Het
Lrrfip1	T	A	1: 91,043,630 (GRCm39)	H678Q	probably benign	Het
Mettl16	A	G	11: 74,696,091 (GRCm39)	T311A	probably benign	Het
Nefl	T	C	14: 68,323,480 (GRCm39)	Y369H	probably damaging	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Pkd1	A	G	17: 24,800,188 (GRCm39)	Y2983C	probably damaging	Het
Potegl	A	G	2: 23,130,934 (GRCm39)		probably null	Het
Prr5l	C	T	2: 101,571,709 (GRCm39)	E123K	probably benign	Het
Ptprq	A	T	10: 107,482,500 (GRCm39)	Y1024*	probably null	Het
Ramp2	T	A	11: 101,138,762 (GRCm39)	L147Q	probably damaging	Het
Rassf1	C	T	9: 107,435,173 (GRCm39)	R223C	probably benign	Het
Rcbtb2	T	C	14: 73,411,305 (GRCm39)	F357L	probably damaging	Het
Rnf24	A	G	2: 131,145,468 (GRCm39)	V114A	probably benign	Het
Slc7a1	T	G	5: 148,288,899 (GRCm39)	N116T	probably damaging	Het
Sstr2	T	C	11: 113,515,998 (GRCm39)	C306R	probably damaging	Het
Tatdn2	T	C	6: 113,686,482 (GRCm39)	S697P	probably damaging	Het
Tmem67	T	A	4: 12,040,738 (GRCm39)	N935I	probably damaging	Het
Trp73	G	A	4: 154,201,052 (GRCm39)	P4S	unknown	Het
Vmn1r237	T	G	17: 21,534,509 (GRCm39)	D77E	possibly damaging	Het
Vmn1r238	C	T	18: 3,123,250 (GRCm39)	A55T	probably damaging	Het
Vsig10l	C	A	7: 43,114,876 (GRCm39)	A359E	possibly damaging	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Zbtb25	A	G	12: 76,395,923 (GRCm39)	V433A	probably benign	Het
Zfp180	C	A	7: 23,805,535 (GRCm39)	D651E	probably benign	Het
Zfp979	T	C	4: 147,698,004 (GRCm39)	D235G	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
R2262: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
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'- CTCTGCTTCATACAGAGAACTCTTC -3'
(R):5'- AACAGTGCAGTCACATTTCTG -3'

Sequencing Primer
(F):5'- GGATCACAAGCGGTGTTT -3'
(R):5'- AGTCACATTTCTGCACTCTCAG -3'

Posted On

2020-06-30