Mutagenetix > Incidental Mutation

Incidental Mutation 'R7693:Dnaja2'

593500

Institutional Source

Beutler Lab

Gene Symbol

Dnaja2

Ensembl Gene

ENSMUSG00000031701

Gene Name

DnaJ heat shock protein family (Hsp40) member A2

Synonyms

HIRIP4, PRO3015, mDj3, 2010206B19Rik, DNJ3, 1500017M13Rik

MMRRC Submission

045708-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86264262-86281973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86266939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 306 (P306Q)

Ref Sequence

ENSEMBL: ENSMUSP00000034138 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034138]

AlphaFold

Q9QYJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034138
AA Change: P306Q

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

SMART Domains

Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: P306Q

Domain	Start	End	E-Value	Type
DnaJ	7	62	8.53e-31	SMART
low complexity region	70	83	N/A	INTRINSIC
low complexity region	101	113	N/A	INTRINSIC
Pfam:DnaJ_C	116	338	8.5e-36	PFAM
Pfam:DnaJ_CXXCXGXG	143	209	3.4e-18	PFAM
low complexity region	393	403	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,827,968 (GRCm39)	S63I	probably damaging	Het
Adcy10	A	G	1: 165,398,340 (GRCm39)	E1479G	probably benign	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Anapc1	A	G	2: 128,483,457 (GRCm39)	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,223,338 (GRCm39)	H525N	probably benign	Het
Arhgap33	A	T	7: 30,225,537 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,763,222 (GRCm39)	E826G	probably benign	Het
Art2a	A	T	7: 101,204,056 (GRCm39)	*161R	probably null	Het
Azi2	A	T	9: 117,876,661 (GRCm39)	N59I	probably damaging	Het
Cdhr5	T	C	7: 140,851,691 (GRCm39)	T538A	probably benign	Het
Cilk1	A	G	9: 78,065,008 (GRCm39)	D306G	probably benign	Het
Csnk2b	C	A	17: 35,336,972 (GRCm39)	G123C	probably null	Het
Dnaaf10	T	C	11: 17,162,064 (GRCm39)	V34A	probably benign	Het
Dusp19	A	G	2: 80,447,905 (GRCm39)	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,101,443 (GRCm39)	G139S	probably benign	Het
Fer1l4	A	G	2: 155,862,351 (GRCm39)	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 30,770,598 (GRCm39)	R66S	probably benign	Het
Gjd2	T	C	2: 113,842,309 (GRCm39)	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,691,239 (GRCm39)	I252T	probably benign	Het
Gnl1	T	C	17: 36,299,112 (GRCm39)	C517R	probably damaging	Het
Grin1	T	A	2: 25,208,679 (GRCm39)	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,209,642 (GRCm39)	M244T	probably damaging	Het
Iqca1l	T	C	5: 24,751,626 (GRCm39)	I541V	probably benign	Het
Kcnma1	T	A	14: 23,417,680 (GRCm39)	I850F	probably damaging	Het
Kif13a	G	T	13: 46,904,089 (GRCm39)	T1748N	probably benign	Het
Lama1	C	T	17: 68,124,026 (GRCm39)	A2817V		Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Neb	C	T	2: 52,189,581 (GRCm39)	A770T	probably damaging	Het
Noc2l	T	A	4: 156,324,764 (GRCm39)	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,695,733 (GRCm39)	D205G	probably benign	Het
Or5m5	A	T	2: 85,814,979 (GRCm39)	Y265F	probably damaging	Het
Or7a37	A	T	10: 78,806,137 (GRCm39)	Y218F	probably damaging	Het
Parp9	A	G	16: 35,777,282 (GRCm39)	S409G	possibly damaging	Het
Pcnx2	G	A	8: 126,613,864 (GRCm39)	T529I	probably benign	Het
Popdc3	A	G	10: 45,191,227 (GRCm39)	S113G	probably benign	Het
Rbm8a	T	C	3: 96,537,624 (GRCm39)	I25T	probably damaging	Het
Rfc4	A	G	16: 22,946,163 (GRCm39)	W40R	probably damaging	Het
Rp1	T	C	1: 4,417,626 (GRCm39)	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,197,218 (GRCm39)	A846V	possibly damaging	Het
Spx	A	G	6: 142,360,516 (GRCm39)	D56G	probably damaging	Het
Tanc2	T	A	11: 105,814,293 (GRCm39)	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,001,843 (GRCm39)	I559V		Het
Tnfaip3	A	G	10: 18,880,528 (GRCm39)	V513A	probably benign	Het
Ucp3	T	C	7: 100,131,799 (GRCm39)	F217L	probably benign	Het
Zc3h11a	A	T	1: 133,573,475 (GRCm39)	M55K	probably damaging	Het
Zfp316	G	A	5: 143,249,167 (GRCm39)	T156I	unknown	Het

Other mutations in Dnaja2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Dnaja2	APN	8	86,281,866 (GRCm39)	missense	probably damaging	0.98
IGL01479:Dnaja2	APN	8	86,280,580 (GRCm39)	missense	probably damaging	1.00
IGL01722:Dnaja2	APN	8	86,279,908 (GRCm39)	missense	probably benign	0.35
IGL01946:Dnaja2	APN	8	86,273,329 (GRCm39)	missense	probably damaging	1.00
IGL03310:Dnaja2	APN	8	86,275,534 (GRCm39)	missense	probably benign	0.00
R0689:Dnaja2	UTSW	8	86,273,347 (GRCm39)	splice site	probably benign
R1350:Dnaja2	UTSW	8	86,266,717 (GRCm39)	missense	probably damaging	1.00
R2332:Dnaja2	UTSW	8	86,266,765 (GRCm39)	missense	probably damaging	1.00
R3105:Dnaja2	UTSW	8	86,281,857 (GRCm39)	missense	probably damaging	1.00
R3693:Dnaja2	UTSW	8	86,273,249 (GRCm39)	missense	probably damaging	0.99
R3787:Dnaja2	UTSW	8	86,267,015 (GRCm39)	missense	probably damaging	1.00
R4803:Dnaja2	UTSW	8	86,280,029 (GRCm39)	missense	probably damaging	1.00
R5109:Dnaja2	UTSW	8	86,279,887 (GRCm39)	missense	possibly damaging	0.51
R5428:Dnaja2	UTSW	8	86,266,804 (GRCm39)	missense	probably benign
R5576:Dnaja2	UTSW	8	86,266,033 (GRCm39)	missense	possibly damaging	0.95
R7055:Dnaja2	UTSW	8	86,275,303 (GRCm39)	missense	probably benign	0.00
R7385:Dnaja2	UTSW	8	86,265,982 (GRCm39)	missense	probably benign
R7662:Dnaja2	UTSW	8	86,265,905 (GRCm39)	missense	probably benign	0.17
R8049:Dnaja2	UTSW	8	86,265,876 (GRCm39)	missense	possibly damaging	0.63
R9653:Dnaja2	UTSW	8	86,265,982 (GRCm39)	missense	probably benign
Z1177:Dnaja2	UTSW	8	86,266,700 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAAAGGGATTACGATACTGTGGC -3'
(R):5'- ACTTAAGGAATGCTCAGCAGG -3'

Sequencing Primer
(F):5'- GATTACGATACTGTGGCATTCC -3'
(R):5'- ATGCTCAGCAGGGTAATGTG -3'

Posted On

2019-11-12