Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01543:Dnajc3'

90246

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajc3

Ensembl Gene

ENSMUSG00000022136

Gene Name

DnaJ heat shock protein family (Hsp40) member C3

Synonyms

Dnajc3, Dnajc3a, mp58, Dnajc3b, Prkri, p58IPK

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

IGL01543

Quality Score

Status

Chromosome

Chromosomal Location

119175388-119219109 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 119198274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136

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

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 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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,097 (GRCm39)	I204T	probably benign	Het
Abhd16a	T	C	17: 35,310,013 (GRCm39)	S69P	probably damaging	Het
Ampd1	C	T	3: 103,003,029 (GRCm39)	T582I	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arid1a	A	T	4: 133,409,033 (GRCm39)	F1825I	unknown	Het
Asxl1	G	A	2: 153,243,404 (GRCm39)	G1318D	probably benign	Het
B4galnt3	G	A	6: 120,186,273 (GRCm39)	H807Y	probably benign	Het
Bpifb5	G	T	2: 154,075,169 (GRCm39)	V366F	possibly damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Ccdc152	G	A	15: 3,327,606 (GRCm39)	T57I	possibly damaging	Het
Ccs	T	C	19: 4,884,269 (GRCm39)	E61G	possibly damaging	Het
Chsy3	G	A	18: 59,543,472 (GRCm39)	W870*	probably null	Het
Col8a1	G	A	16: 57,448,097 (GRCm39)	P471L	unknown	Het
Cyp2j6	A	C	4: 96,414,161 (GRCm39)	V368G	possibly damaging	Het
Dpep3	A	T	8: 106,702,814 (GRCm39)	M316K	probably damaging	Het
Galntl5	A	G	5: 25,400,349 (GRCm39)	E126G	probably damaging	Het
Gli1	T	C	10: 127,168,347 (GRCm39)	N502S	probably damaging	Het
Hus1	A	G	11: 8,950,082 (GRCm39)	L213P	probably benign	Het
Hypk	A	G	2: 121,287,776 (GRCm39)		probably null	Het
Igkv4-59	T	A	6: 69,415,345 (GRCm39)	Y70F	probably damaging	Het
Impdh1	A	C	6: 29,203,377 (GRCm39)	V14G	probably damaging	Het
Kif26b	A	G	1: 178,506,526 (GRCm39)	M201V	probably benign	Het
Macf1	A	G	4: 123,295,250 (GRCm39)	I5323T	probably damaging	Het
Mmp16	C	T	4: 18,051,743 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,932,943 (GRCm39)	D5619G	probably benign	Het
Or2ag20	T	C	7: 106,465,125 (GRCm39)	S313P	probably benign	Het
Pcdh7	T	C	5: 57,878,107 (GRCm39)	V554A	probably damaging	Het
Piezo2	T	C	18: 63,203,101 (GRCm39)	E1513G	probably damaging	Het
Rab6b	A	G	9: 103,039,837 (GRCm39)	D75G	probably damaging	Het
Ryr1	T	C	7: 28,790,501 (GRCm39)	Y1435C	probably damaging	Het
Scarf2	A	G	16: 17,620,413 (GRCm39)	N81S	probably damaging	Het
Six5	G	A	7: 18,830,272 (GRCm39)	A300T	possibly damaging	Het
Skap2	T	A	6: 51,989,375 (GRCm39)	N3Y	possibly damaging	Het
Skint6	A	T	4: 112,757,160 (GRCm39)	S734T	probably benign	Het
Slc15a4	A	C	5: 127,680,830 (GRCm39)	H396Q	probably benign	Het
Slco6c1	A	G	1: 97,053,553 (GRCm39)	M116T	possibly damaging	Het
Slfn9	T	C	11: 82,878,775 (GRCm39)	D118G	probably benign	Het
Trim3	T	C	7: 105,262,520 (GRCm39)	D546G	probably damaging	Het
Trpa1	A	G	1: 14,970,300 (GRCm39)	L362P	probably damaging	Het
Vasn	A	G	16: 4,467,756 (GRCm39)	T568A	possibly damaging	Het
Vwa5b2	A	G	16: 20,414,466 (GRCm39)	M281V	probably benign	Het
Wwp2	A	G	8: 108,210,000 (GRCm39)	E126G	probably damaging	Het
Zfp398	G	A	6: 47,842,997 (GRCm39)	G350S	probably damaging	Het

Other mutations in Dnajc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-03