Mutagenetix > Incidental Mutation

Incidental Mutation 'R5398:Dnajc3'

429813

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

042969-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.534) question?

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119175388-119219109 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119209799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 291 (Y291*)

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: Y291*

SMART Domains

Protein: ENSMUSP00000022734
Gene: ENSMUSG00000022136
AA Change: Y291*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,362,595 (GRCm39)	L34P	possibly damaging	Het
Adam34	A	C	8: 44,104,278 (GRCm39)	C456G	probably damaging	Het
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,365,533 (GRCm39)	D407G	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Chac1	T	G	2: 119,183,725 (GRCm39)	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,232,820 (GRCm39)	D709G	probably benign	Het
Ddx42	T	A	11: 106,115,724 (GRCm39)	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,872 (GRCm39)	K1326E	probably benign	Het
Dsg2	T	C	18: 20,712,190 (GRCm39)	F109L	probably benign	Het
Egfl8	T	C	17: 34,833,613 (GRCm39)		probably benign	Het
Emb	T	A	13: 117,404,088 (GRCm39)	I280N	probably damaging	Het
Gcc2	C	A	10: 58,105,329 (GRCm39)	N188K	probably benign	Het
Gdpd4	A	T	7: 97,621,185 (GRCm39)	H166L	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Itga11	A	G	9: 62,653,205 (GRCm39)	T360A	probably benign	Het
Kctd1	A	G	18: 15,195,322 (GRCm39)	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,394,401 (GRCm39)	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,688,807 (GRCm39)		noncoding transcript	Het
Ociad1	T	A	5: 73,467,755 (GRCm39)	V231E	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1l4	C	A	2: 37,091,330 (GRCm39)	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,399,207 (GRCm39)	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pcnx2	T	C	8: 126,614,687 (GRCm39)	K255E	possibly damaging	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Ppl	A	G	16: 4,922,786 (GRCm39)	M235T	probably benign	Het
Prl7d1	T	A	13: 27,894,057 (GRCm39)	I171F	probably damaging	Het
Ptprt	T	C	2: 161,769,512 (GRCm39)	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,424,998 (GRCm39)	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,616,246 (GRCm39)	T11I	probably benign	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Scn9a	T	C	2: 66,318,387 (GRCm39)	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,536,304 (GRCm39)	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,730,936 (GRCm39)	I61N	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spink12	A	G	18: 44,240,794 (GRCm39)	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,761,638 (GRCm39)	I289V	probably benign	Het
Srebf2	A	G	15: 82,055,443 (GRCm39)	T176A	probably damaging	Het
Syce1l	T	C	8: 114,379,145 (GRCm39)	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,378,910 (GRCm39)	I538T	probably benign	Het
Tcte1	C	T	17: 45,850,752 (GRCm39)	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,559,441 (GRCm39)	D177A	probably damaging	Het
Thada	T	G	17: 84,733,614 (GRCm39)	D1011A	probably benign	Het
Tnn	T	A	1: 159,975,092 (GRCm39)	M112L	probably benign	Het
Traf1	T	C	2: 34,835,447 (GRCm39)	E325G	probably damaging	Het
Tyw1	T	C	5: 130,305,998 (GRCm39)		probably benign	Het
Vmn2r111	C	A	17: 22,792,252 (GRCm39)	M1I	probably null	Het
Wdr11	C	T	7: 129,232,956 (GRCm39)	T996M	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
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'- CGTGCTTTAGAGACTCCTGTC -3'
(R):5'- CCAGAGTGATGGCTCAGTAGTG -3'

Sequencing Primer
(F):5'- GCCCCATGCTTTAGAGACTCTG -3'
(R):5'- TGTGTGCACTGAACAAGCATGC -3'

Posted On

2016-09-06