Mutagenetix > Incidental Mutation

Incidental Mutation 'R3787:Dnaja2'

272315

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

040754-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.760) question?

Stock #

R3787 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86264262-86281973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86267015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 281 (G281R)

Ref Sequence

ENSEMBL: ENSMUSP00000034138 (fasta)

Gene Model

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

AlphaFold

Q9QYJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034138
AA Change: G281R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: G281R

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	T	5: 139,441,197 (GRCm39)	P35Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Aprt	T	C	8: 123,302,268 (GRCm39)	D65G	probably benign	Het
Auh	C	A	13: 53,083,493 (GRCm39)	R62L	possibly damaging	Het
Bmp4	C	T	14: 46,623,171 (GRCm39)		probably null	Het
Bptf	C	A	11: 106,964,653 (GRCm39)	D1514Y	probably damaging	Het
Carmil3	T	C	14: 55,734,433 (GRCm39)	F418S	probably damaging	Het
Ccdc112	C	T	18: 46,432,365 (GRCm39)	R72H	probably benign	Het
Ccdc138	T	C	10: 58,374,092 (GRCm39)	Y371H	probably damaging	Het
Chsy3	T	C	18: 59,542,070 (GRCm39)	Y403H	probably damaging	Het
Cul4a	T	C	8: 13,183,668 (GRCm39)	V352A	probably damaging	Het
Dennd3	T	C	15: 73,419,426 (GRCm39)	V739A	possibly damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dmxl2	T	C	9: 54,277,162 (GRCm39)	D2893G	probably damaging	Het
Dnah8	A	G	17: 30,974,015 (GRCm39)	D2800G	probably damaging	Het
Exo1	A	G	1: 175,727,035 (GRCm39)	T449A	probably benign	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Fmo1	A	T	1: 162,657,583 (GRCm39)	S519R	possibly damaging	Het
Fryl	T	C	5: 73,258,819 (GRCm39)	Y655C	probably benign	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Inpp5k	T	C	11: 75,538,512 (GRCm39)	L461P	probably damaging	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mcm9	A	G	10: 53,492,076 (GRCm39)	V415A	possibly damaging	Het
Mki67	A	T	7: 135,302,012 (GRCm39)	N1007K	possibly damaging	Het
Mpped1	A	T	15: 83,680,784 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,380,670 (GRCm39)	V116A	probably damaging	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nfs1	A	G	2: 155,970,503 (GRCm39)	I270T	possibly damaging	Het
Nr1i3	A	G	1: 171,041,994 (GRCm39)	D26G	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Or13a28	G	A	7: 140,217,748 (GRCm39)	V45I	probably benign	Het
Or8g32	T	C	9: 39,305,678 (GRCm39)	V197A	probably benign	Het
Pde4dip	G	T	3: 97,622,868 (GRCm39)	P1447Q	possibly damaging	Het
Plxna2	A	G	1: 194,326,242 (GRCm39)	T59A	probably benign	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r12c	G	A	7: 4,489,583 (GRCm39)	A193V	probably damaging	Het
Pramel48	T	A	5: 95,630,756 (GRCm39)	L211Q	probably damaging	Het
Prdm15	G	T	16: 97,598,945 (GRCm39)	H904Q	probably benign	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Reep1	T	A	6: 71,772,199 (GRCm39)	D162E	probably damaging	Het
Rev3l	T	A	10: 39,722,206 (GRCm39)	L2528Q	probably damaging	Het
Rfc1	A	T	5: 65,453,357 (GRCm39)	S264T	probably benign	Het
Sall4	A	G	2: 168,598,043 (GRCm39)	S266P	probably damaging	Het
Sipa1l2	C	T	8: 126,149,944 (GRCm39)	A1602T	probably benign	Het
Sipa1l2	C	A	8: 126,177,122 (GRCm39)	C1164F	possibly damaging	Het
Slc4a1ap	T	A	5: 31,685,483 (GRCm39)	L254I	possibly damaging	Het
Slc5a3	A	G	16: 91,874,816 (GRCm39)	N291S	possibly damaging	Het
Stab2	T	A	10: 86,805,141 (GRCm39)	D279V	possibly damaging	Het
Synrg	T	C	11: 83,892,746 (GRCm39)	F613S	probably damaging	Het
Tekt1	A	G	11: 72,235,720 (GRCm39)	I376T	probably damaging	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tro	G	A	X: 149,438,048 (GRCm39)	T203I	possibly damaging	Het
Txnl4b	C	T	8: 110,299,409 (GRCm39)	A123V	probably damaging	Het
Vmn1r63	T	A	7: 5,805,751 (GRCm39)	M294L	probably benign	Het
Vmn2r58	C	T	7: 41,513,498 (GRCm39)	D382N	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	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
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'- GGCATTCCTTCACCTCGAAC -3'
(R):5'- GCTTTGAAATTAGGGACAGTGGC -3'

Sequencing Primer
(F):5'- TTCCTTCACCTCGAACAACACG -3'
(R):5'- AAATTAGGGACAGTGGCTTTTTGGC -3'

Posted On

2015-03-25