Mutagenetix > Incidental Mutation

Incidental Mutation 'R1350:Dnaja2'

159532

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

039415-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.697) question?

Stock #

R1350 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86264262-86281973 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86266717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 337 (F337I)

Ref Sequence

ENSEMBL: ENSMUSP00000034138 (fasta)

Gene Model

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

AlphaFold

Q9QYJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034138
AA Change: F337I

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

SMART Domains

Protein: ENSMUSP00000034138
Gene: ENSMUSG00000031701
AA Change: F337I

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

Meta Mutation Damage Score

0.2596

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.1%

Validation Efficiency

95% (57/60)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	A	G	4: 126,400,925 (GRCm39)	V640A	probably benign	Het
AI661453	C	T	17: 47,778,853 (GRCm39)	Q860*	probably null	Het
Atp10d	A	G	5: 72,418,469 (GRCm39)		probably benign	Het
Axdnd1	A	G	1: 156,205,950 (GRCm39)		probably null	Het
Bivm	T	A	1: 44,165,863 (GRCm39)	N104K	possibly damaging	Het
Capn15	A	G	17: 26,183,666 (GRCm39)	S338P	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccn6	C	T	10: 39,034,302 (GRCm39)	C100Y	probably damaging	Het
Col13a1	G	A	10: 61,729,848 (GRCm39)		probably benign	Het
Crb2	A	G	2: 37,682,081 (GRCm39)	N821D	probably damaging	Het
D5Ertd579e	T	A	5: 36,771,081 (GRCm39)	I1105F	probably damaging	Het
Dntt	C	T	19: 41,025,578 (GRCm39)		probably benign	Het
Dock3	C	T	9: 106,791,831 (GRCm39)	E1381K	possibly damaging	Het
Fibp	T	C	19: 5,511,419 (GRCm39)	Y96H	probably damaging	Het
Garnl3	A	G	2: 32,942,226 (GRCm39)	V85A	probably damaging	Het
Gsdme	A	T	6: 50,223,108 (GRCm39)		probably null	Het
Gucy2c	A	T	6: 136,720,912 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,809,217 (GRCm39)	V1748A	probably benign	Het
Hepacam2	G	A	6: 3,467,530 (GRCm39)	Q384*	probably null	Het
Itga10	T	A	3: 96,564,793 (GRCm39)	M961K	probably benign	Het
Kcnk1	C	T	8: 126,751,967 (GRCm39)	T191I	probably benign	Het
Khdrbs1	G	A	4: 129,614,545 (GRCm39)	P336L	probably benign	Het
Klhdc2	T	A	12: 69,352,484 (GRCm39)		probably null	Het
Lipc	T	C	9: 70,705,649 (GRCm39)	H478R	probably benign	Het
Lrp12	A	T	15: 39,741,646 (GRCm39)	C356*	probably null	Het
Nf1	T	A	11: 79,303,513 (GRCm39)	C397S	probably damaging	Het
Nox3	A	G	17: 3,700,396 (GRCm39)	F439S	probably damaging	Het
Or12e9	T	A	2: 87,202,701 (GRCm39)	V275E	probably benign	Het
Or13a18	T	C	7: 140,190,622 (GRCm39)	V181A	probably damaging	Het
Or3a1b	T	C	11: 74,013,039 (GRCm39)	L308P	possibly damaging	Het
Or4b12	A	T	2: 90,096,690 (GRCm39)	L28Q	probably damaging	Het
Or51b17	A	G	7: 103,542,937 (GRCm39)	W2R	probably benign	Het
Or7g29	T	G	9: 19,286,710 (GRCm39)	S156R	possibly damaging	Het
Or8b37	G	A	9: 37,959,111 (GRCm39)	V198I	probably benign	Het
Pcif1	T	C	2: 164,728,687 (GRCm39)	F288L	probably damaging	Het
Prxl2b	C	A	4: 154,982,585 (GRCm39)	R107L	probably damaging	Het
Skint7	G	T	4: 111,837,521 (GRCm39)	A100S	possibly damaging	Het
Ssu2	A	T	6: 112,351,807 (GRCm39)	L306*	probably null	Het
Tasp1	T	C	2: 139,899,341 (GRCm39)	E4G	probably damaging	Het
Tfb1m	A	T	17: 3,595,955 (GRCm39)	D99E	probably benign	Het
Ube3b	A	G	5: 114,544,198 (GRCm39)		probably null	Het
Uox	A	G	3: 146,330,330 (GRCm39)	D162G	probably damaging	Het
Usp18	A	G	6: 121,239,651 (GRCm39)	T249A	possibly damaging	Het
Vmn1r202	T	C	13: 22,685,886 (GRCm39)	N177S	probably benign	Het
Vwa2	T	A	19: 56,897,558 (GRCm39)	M621K	probably damaging	Het
Wdfy3	C	A	5: 102,046,418 (GRCm39)	D1797Y	probably damaging	Het
Ylpm1	A	T	12: 85,060,856 (GRCm39)		probably benign	Het
Zbtb9	G	A	17: 27,193,380 (GRCm39)	V262I	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
R0689:Dnaja2	UTSW	8	86,273,347 (GRCm39)	splice site	probably benign
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'- TGCTCTCCAGAGAGTTCAAAGACTTCC -3'
(R):5'- CTCGTCAGATTGTGGTGAAATACCCC -3'

Sequencing Primer
(F):5'- tcccagcaatcaaaaaacagatag -3'
(R):5'- TGGTGAAATACCCCCCTGG -3'

Posted On

2014-03-14