Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Dnaja2'

61282

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

038874-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R0689 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

86264262-86281973 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 86273347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034138 (fasta)

Gene Model

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

AlphaFold

Q9QYJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000034138

SMART Domains

Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211630

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,596,474 (GRCm39)	G674W	probably damaging	Het
Adcy9	A	G	16: 4,130,668 (GRCm39)		probably benign	Het
Adgrv1	C	T	13: 81,623,224 (GRCm39)	V3800I	possibly damaging	Het
Agl	A	G	3: 116,587,277 (GRCm39)	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,051,753 (GRCm39)	D400V	probably benign	Het
Bpifc	A	G	10: 85,796,411 (GRCm39)		probably benign	Het
Cachd1	G	T	4: 100,832,073 (GRCm39)	R745L	probably damaging	Het
Cadm3	T	A	1: 173,172,019 (GRCm39)	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,224,943 (GRCm39)	D215E	probably damaging	Het
Ces1g	A	G	8: 94,055,035 (GRCm39)	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668 (GRCm39)	V138M	probably benign	Het
Csmd3	A	T	15: 47,619,421 (GRCm39)	F1714I	probably benign	Het
Cyp4f18	A	G	8: 72,749,812 (GRCm39)	L279P	probably benign	Het
Dnah7a	G	A	1: 53,659,840 (GRCm39)	Q723*	probably null	Het
Dnajc6	T	C	4: 101,468,450 (GRCm39)	V162A	possibly damaging	Het
Dok4	T	C	8: 95,597,547 (GRCm39)	T3A	probably benign	Het
Efcab7	T	C	4: 99,761,981 (GRCm39)	W424R	probably damaging	Het
Fah	A	T	7: 84,242,392 (GRCm39)		probably null	Het
Fam120a	T	C	13: 49,121,114 (GRCm39)	D64G	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gas8	T	G	8: 124,250,845 (GRCm39)	L106R	probably damaging	Het
Gykl1	T	G	18: 52,827,123 (GRCm39)	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,649,295 (GRCm39)	L343I	possibly damaging	Het
Itch	T	A	2: 155,024,098 (GRCm39)	S234T	possibly damaging	Het
Itgbl1	A	T	14: 124,065,259 (GRCm39)	I61F	possibly damaging	Het
Klf6	T	A	13: 5,915,115 (GRCm39)	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,620,143 (GRCm39)	K202T	probably benign	Het
Liph	T	C	16: 21,786,818 (GRCm39)	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myo9b	G	A	8: 71,783,400 (GRCm39)	D574N	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,322,562 (GRCm39)		probably null	Het
Olfm3	T	A	3: 114,916,194 (GRCm39)	N355K	probably benign	Het
Or4k15c	A	T	14: 50,321,689 (GRCm39)	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,648,370 (GRCm39)	T500A	probably benign	Het
Pclo	A	G	5: 14,764,033 (GRCm39)	I4169V	unknown	Het
Pde4d	T	C	13: 109,877,078 (GRCm39)	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,523,191 (GRCm39)	Y157H	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,674,947 (GRCm39)		probably null	Het
Ppp1r14d	T	C	2: 119,060,093 (GRCm39)	D63G	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgip1	A	T	4: 102,823,449 (GRCm39)	D690V	probably damaging	Het
Skp1	T	C	11: 52,134,592 (GRCm39)		probably benign	Het
Slc25a12	T	C	2: 71,141,837 (GRCm39)	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,146,846 (GRCm39)		probably benign	Het
Snx6	A	T	12: 54,810,441 (GRCm39)	S112T	probably benign	Het
Sox6	A	G	7: 115,085,786 (GRCm39)	V685A	probably damaging	Het
Taf2	A	T	15: 54,926,461 (GRCm39)	V163E	possibly damaging	Het
Tg	A	T	15: 66,711,253 (GRCm39)		probably benign	Het
Tmem30c	A	G	16: 57,090,536 (GRCm39)	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,339,879 (GRCm39)	N173D	probably benign	Het
Traf5	T	C	1: 191,729,837 (GRCm39)	T405A	probably benign	Het
Trerf1	C	T	17: 47,630,300 (GRCm39)		noncoding transcript	Het
Triobp	A	T	15: 78,844,188 (GRCm39)	K135*	probably null	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,806,609 (GRCm39)	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,460,872 (GRCm39)	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,300,782 (GRCm39)	S595P	possibly damaging	Het
Zcchc2	C	T	1: 105,958,234 (GRCm39)	Q504*	probably null	Het
Zfp2	T	C	11: 50,791,734 (GRCm39)	D103G	probably benign	Het
Zfp59	A	G	7: 27,553,142 (GRCm39)	K198R	probably benign	Het
Zfp64	C	A	2: 168,777,121 (GRCm39)		probably benign	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
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
R7693:Dnaja2	UTSW	8	86,266,939 (GRCm39)	missense	probably damaging	1.00
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'- GACTGAACCTACCCACTGTGCATC -3'
(R):5'- AGCATTCATAGAAGCTCCAGCAGC -3'

Sequencing Primer
(F):5'- acataaaggaaaatgaggtgcag -3'
(R):5'- CTGACTGTCCAAGGAGCTAAG -3'

Posted On

2013-07-30