Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02795:Dnaja3'

359970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnaja3

Ensembl Gene

ENSMUSG00000004069

Gene Name

DnaJ heat shock protein family (Hsp40) member A3

Synonyms

1810053A11Rik, 1200003J13Rik, Tid-1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02795

Quality Score

Status

Chromosome

Chromosomal Location

4639989-4707695 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 4690073 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155588 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000229529]

AlphaFold

Q99M87

Predicted Effect

probably benign
Transcript: ENSMUST00000060067

SMART Domains

Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
DnaJ	92	150	4.57e-31	SMART
Pfam:DnaJ_C	209	413	4.4e-23	PFAM
Pfam:DnaJ_CXXCXGXG	236	296	2.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115854

SMART Domains

Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
DnaJ	92	150	4.57e-31	SMART
Pfam:DnaJ_CXXCXGXG	236	296	3.9e-14	PFAM
Pfam:CTDII	345	423	1.5e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144815

Predicted Effect

probably benign
Transcript: ENSMUST00000229529

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Early embryonic development of homozygous null embryos is disrupted. Blastocysts develop and implant but die afterwards. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,288,748 (GRCm38)	L1391P	probably damaging	Het
Abcc3	G	A	11: 94,361,642 (GRCm38)		probably benign	Het
Acvr1	A	G	2: 58,462,952 (GRCm38)	I332T	probably damaging	Het
Atp8a2	C	T	14: 60,033,742 (GRCm38)	V247M	probably damaging	Het
Btn1a1	T	C	13: 23,460,616 (GRCm38)		probably null	Het
Btnl9	A	T	11: 49,174,867 (GRCm38)		probably benign	Het
Dbx1	T	A	7: 49,636,577 (GRCm38)	I47F	probably benign	Het
Dnmt1	T	C	9: 20,927,111 (GRCm38)	S220G	probably benign	Het
Dock9	A	T	14: 121,639,978 (GRCm38)	M451K	probably benign	Het
Eml3	A	G	19: 8,933,778 (GRCm38)	Y257C	probably benign	Het
Fbxw19	C	A	9: 109,495,818 (GRCm38)	M10I	possibly damaging	Het
Flg2	C	T	3: 93,203,613 (GRCm38)	R983W	unknown	Het
Galnt5	C	A	2: 58,027,871 (GRCm38)	P707H	probably damaging	Het
Gba2	G	T	4: 43,578,331 (GRCm38)	P6Q	probably damaging	Het
Gm13199	A	G	2: 5,862,673 (GRCm38)		probably benign	Het
Gpr45	C	T	1: 43,032,493 (GRCm38)	R99C	possibly damaging	Het
Hecw1	G	A	13: 14,322,517 (GRCm38)	S302L	probably damaging	Het
Hrg	T	C	16: 22,957,553 (GRCm38)		probably benign	Het
Kdelc2	A	G	9: 53,392,105 (GRCm38)	D99G	probably damaging	Het
Lama1	A	G	17: 67,738,894 (GRCm38)		probably null	Het
Lgr4	T	C	2: 110,008,210 (GRCm38)		probably benign	Het
Lrrc9	C	T	12: 72,478,768 (GRCm38)	T830M	probably damaging	Het
Mdga2	T	C	12: 66,689,432 (GRCm38)	T341A	probably benign	Het
Mms19	C	T	19: 41,952,406 (GRCm38)		probably null	Het
Nectin1	A	G	9: 43,803,552 (GRCm38)	S362G	probably benign	Het
Nlrc3	G	T	16: 3,965,285 (GRCm38)	H87N	probably damaging	Het
Oit1	T	A	14: 8,355,497 (GRCm38)	M113L	probably benign	Het
Olfr1018	T	A	2: 85,823,512 (GRCm38)	C180*	probably null	Het
Olfr142	A	G	2: 90,252,562 (GRCm38)	L142P	probably damaging	Het
Olfr183	G	T	16: 59,000,277 (GRCm38)	L197F	possibly damaging	Het
Olfr23	G	A	11: 73,940,929 (GRCm38)	V228I	probably benign	Het
Olfr243	T	A	7: 103,716,883 (GRCm38)	F96L	probably benign	Het
Pcsk1	G	T	13: 75,112,620 (GRCm38)	G321C	probably damaging	Het
Prrc2c	G	T	1: 162,714,299 (GRCm38)	P374T	probably benign	Het
Rusc1	A	T	3: 89,091,950 (GRCm38)	L175Q	probably damaging	Het
Ryr2	T	C	13: 11,595,190 (GRCm38)	N4250S	probably benign	Het
Scara5	A	C	14: 65,730,680 (GRCm38)	N134T	possibly damaging	Het
Sema4d	T	C	13: 51,703,411 (GRCm38)	K595R	probably benign	Het
Serpinb6a	A	C	13: 33,931,593 (GRCm38)	L15R	probably damaging	Het
Setdb1	A	T	3: 95,327,373 (GRCm38)	N1006K	probably damaging	Het
Slc18a2	G	A	19: 59,274,490 (GRCm38)		probably benign	Het
Slc22a30	C	T	19: 8,400,895 (GRCm38)	C139Y	probably damaging	Het
Slc25a27	T	A	17: 43,647,112 (GRCm38)	Y269F	probably damaging	Het
Slc9c1	A	T	16: 45,575,419 (GRCm38)	D611V	probably benign	Het
Spag6	G	T	2: 18,733,083 (GRCm38)	V255F	probably benign	Het
St5	T	C	7: 109,556,364 (GRCm38)	Y393C	probably damaging	Het
Svep1	C	A	4: 58,123,223 (GRCm38)	G698W	probably damaging	Het
Syne2	T	C	12: 75,966,549 (GRCm38)	L2839P	probably damaging	Het
Tfb2m	T	C	1: 179,545,959 (GRCm38)	E58G	possibly damaging	Het
Trim24	A	T	6: 37,919,389 (GRCm38)	E260D	probably damaging	Het
Ugt2b1	T	A	5: 86,917,701 (GRCm38)	D493V	probably damaging	Het
Vmn1r27	A	G	6: 58,215,302 (GRCm38)	V189A	possibly damaging	Het
Vmn2r91	A	G	17: 18,085,277 (GRCm38)	Q74R	probably benign	Het
Vps25	A	G	11: 101,256,090 (GRCm38)	Y64C	probably damaging	Het
Xirp2	G	A	2: 67,509,136 (GRCm38)	G574S	probably damaging	Het
Ythdc2	A	G	18: 44,837,438 (GRCm38)	E273G	possibly damaging	Het

Other mutations in Dnaja3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Dnaja3	APN	16	4,694,445 (GRCm38)	missense	probably damaging	1.00
IGL01531:Dnaja3	APN	16	4,694,404 (GRCm38)	missense	probably damaging	1.00
IGL01607:Dnaja3	APN	16	4,693,395 (GRCm38)	missense	probably damaging	1.00
IGL01981:Dnaja3	APN	16	4,701,169 (GRCm38)	missense	probably damaging	1.00
IGL02312:Dnaja3	APN	16	4,694,436 (GRCm38)	missense	probably benign	0.02
IGL02473:Dnaja3	APN	16	4,701,240 (GRCm38)	nonsense	probably null
R1334:Dnaja3	UTSW	16	4,699,794 (GRCm38)	missense	probably damaging	1.00
R1700:Dnaja3	UTSW	16	4,684,165 (GRCm38)	missense	probably null	0.02
R1733:Dnaja3	UTSW	16	4,684,165 (GRCm38)	missense	probably null	0.02
R1854:Dnaja3	UTSW	16	4,697,269 (GRCm38)	missense	probably damaging	1.00
R2330:Dnaja3	UTSW	16	4,690,016 (GRCm38)	missense	probably benign	0.01
R4232:Dnaja3	UTSW	16	4,699,871 (GRCm38)	missense	possibly damaging	0.80
R4357:Dnaja3	UTSW	16	4,699,867 (GRCm38)	missense	probably damaging	0.96
R4434:Dnaja3	UTSW	16	4,689,995 (GRCm38)	nonsense	probably null
R5072:Dnaja3	UTSW	16	4,696,425 (GRCm38)	missense	probably damaging	0.96
R5073:Dnaja3	UTSW	16	4,696,425 (GRCm38)	missense	probably damaging	0.96
R5074:Dnaja3	UTSW	16	4,696,425 (GRCm38)	missense	probably damaging	0.96
R5160:Dnaja3	UTSW	16	4,684,288 (GRCm38)	missense	probably benign	0.01
R5174:Dnaja3	UTSW	16	4,684,297 (GRCm38)	missense	probably benign
R5347:Dnaja3	UTSW	16	4,694,482 (GRCm38)	missense	possibly damaging	0.78
R7106:Dnaja3	UTSW	16	4,705,934 (GRCm38)	missense	probably benign	0.13
R7214:Dnaja3	UTSW	16	4,701,182 (GRCm38)	missense	possibly damaging	0.61
R7673:Dnaja3	UTSW	16	4,694,464 (GRCm38)	missense	probably benign	0.25
R8069:Dnaja3	UTSW	16	4,684,267 (GRCm38)	missense	probably benign
R8154:Dnaja3	UTSW	16	4,699,876 (GRCm38)	missense	possibly damaging	0.53
R8477:Dnaja3	UTSW	16	4,687,348 (GRCm38)	missense	probably null	0.68
R8811:Dnaja3	UTSW	16	4,696,519 (GRCm38)	missense	probably benign	0.31
R9128:Dnaja3	UTSW	16	4,702,300 (GRCm38)	missense	possibly damaging	0.83

Posted On

2015-12-18