Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Dnaja3'

657333

Institutional Source

Beutler Lab

Gene Symbol

Dnaja3

Ensembl Gene

ENSMUSG00000004069

Gene Name

DnaJ heat shock protein family (Hsp40) member A3

Synonyms

1810053A11Rik, Tid-1, 1200003J13Rik

MMRRC Submission

067921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4501934-4525559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4505212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 108 (D108G)

Ref Sequence

ENSEMBL: ENSMUSP00000053842 (fasta)

Gene Model

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

AlphaFold

Q99M87

Predicted Effect

probably null
Transcript: ENSMUST00000060067
AA Change: D108G

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: D108G

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 null
Transcript: ENSMUST00000115854
AA Change: D108G

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: D108G

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

probably null
Transcript: ENSMUST00000229529
AA Change: D108G

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,924,174 (GRCm39)	S94L	probably benign	Het
Ackr1	C	T	1: 173,159,755 (GRCm39)	G255R	probably damaging	Het
Aldh1l2	G	A	10: 83,337,785 (GRCm39)	T560I	probably damaging	Het
Arhgef25	A	T	10: 127,020,266 (GRCm39)	F384I	probably damaging	Het
Bptf	T	A	11: 106,943,679 (GRCm39)	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,844,223 (GRCm39)	E95G	probably damaging	Het
Cenpf	A	T	1: 189,385,385 (GRCm39)	H2298Q	probably benign	Het
Chn2	G	T	6: 54,246,467 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,909,555 (GRCm39)	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,058,708 (GRCm39)	K241N	probably benign	Het
Cyp2c55	G	T	19: 38,999,485 (GRCm39)	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,823,967 (GRCm39)	Q317H	probably damaging	Het
Dpagt1	G	T	9: 44,243,390 (GRCm39)		probably null	Het
Dzip1	T	C	14: 119,138,958 (GRCm39)	R424G	possibly damaging	Het
Ero1b	A	G	13: 12,616,672 (GRCm39)	K367R	probably benign	Het
Evi2	T	C	11: 79,406,891 (GRCm39)	Y228C	probably benign	Het
Exosc10	A	T	4: 148,649,847 (GRCm39)	I426L	possibly damaging	Het
Gba2	C	T	4: 43,569,944 (GRCm39)	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,730,854 (GRCm39)		probably benign	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gvin2	T	C	7: 105,548,133 (GRCm39)	K1640E	possibly damaging	Het
Hc	A	T	2: 34,879,182 (GRCm39)	C1557S	probably damaging	Het
Hfm1	C	T	5: 107,029,684 (GRCm39)	S799N	probably benign	Het
Hibadh	A	T	6: 52,617,185 (GRCm39)	W17R	probably benign	Het
Hivep1	A	T	13: 42,337,696 (GRCm39)	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,031,200 (GRCm39)	T113I	probably benign	Het
Il2rb	A	T	15: 78,370,006 (GRCm39)	V211D	probably damaging	Het
Itgal	A	G	7: 126,900,105 (GRCm39)	Y121C	probably damaging	Het
Kirrel1	T	C	3: 86,992,138 (GRCm39)	T597A	possibly damaging	Het
Lats1	A	G	10: 7,581,279 (GRCm39)	E688G	probably damaging	Het
Lbr	C	T	1: 181,644,539 (GRCm39)	A589T	possibly damaging	Het
Limch1	G	A	5: 67,131,908 (GRCm39)	V133I	probably benign	Het
Mast2	C	T	4: 116,164,407 (GRCm39)	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,684,942 (GRCm39)	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,159,219 (GRCm39)	V833A	probably benign	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or8g28	A	T	9: 39,169,099 (GRCm39)	Y290N	probably damaging	Het
Osgep	C	A	14: 51,155,334 (GRCm39)	A75S	probably damaging	Het
Pank1	C	A	19: 34,856,055 (GRCm39)	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,638,307 (GRCm39)	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,896,365 (GRCm39)	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Polr2a	G	A	11: 69,626,312 (GRCm39)	P1613S	probably benign	Het
Pramel55	A	C	5: 95,949,567 (GRCm39)	M105L	probably benign	Het
Prom2	A	C	2: 127,381,124 (GRCm39)	S251A	probably benign	Het
R3hdm2	A	G	10: 127,320,029 (GRCm39)	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011 (GRCm39)	V50L	probably benign	Het
Rerg	T	C	6: 137,033,184 (GRCm39)	T164A	probably benign	Het
Rho	T	A	6: 115,912,346 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,575,183 (GRCm39)	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,724,609 (GRCm39)	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,210,119 (GRCm39)	V35I	probably benign	Het
Srpk2	A	T	5: 23,718,986 (GRCm39)	S610T	probably benign	Het
Tasor2	A	G	13: 3,625,079 (GRCm39)	F1624L	probably benign	Het
Tmem147	T	A	7: 30,427,656 (GRCm39)	M86L	probably benign	Het
Trhde	A	G	10: 114,636,622 (GRCm39)	V195A	probably benign	Het
Trio	T	C	15: 27,774,038 (GRCm39)	S112G	possibly damaging	Het
U2af2	T	C	7: 5,078,693 (GRCm39)	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,201,200 (GRCm39)	I252M	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp37	A	G	4: 62,110,240 (GRCm39)	C275R	probably damaging	Het
Zfp532	A	T	18: 65,757,137 (GRCm39)	I357F	probably damaging	Het

Other mutations in Dnaja3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Dnaja3	APN	16	4,512,309 (GRCm39)	missense	probably damaging	1.00
IGL01531:Dnaja3	APN	16	4,512,268 (GRCm39)	missense	probably damaging	1.00
IGL01607:Dnaja3	APN	16	4,511,259 (GRCm39)	missense	probably damaging	1.00
IGL01981:Dnaja3	APN	16	4,519,033 (GRCm39)	missense	probably damaging	1.00
IGL02312:Dnaja3	APN	16	4,512,300 (GRCm39)	missense	probably benign	0.02
IGL02473:Dnaja3	APN	16	4,519,104 (GRCm39)	nonsense	probably null
IGL02795:Dnaja3	APN	16	4,507,937 (GRCm39)	splice site	probably benign
R1334:Dnaja3	UTSW	16	4,517,658 (GRCm39)	missense	probably damaging	1.00
R1700:Dnaja3	UTSW	16	4,502,029 (GRCm39)	missense	probably null	0.02
R1733:Dnaja3	UTSW	16	4,502,029 (GRCm39)	missense	probably null	0.02
R1854:Dnaja3	UTSW	16	4,515,133 (GRCm39)	missense	probably damaging	1.00
R2330:Dnaja3	UTSW	16	4,507,880 (GRCm39)	missense	probably benign	0.01
R4232:Dnaja3	UTSW	16	4,517,735 (GRCm39)	missense	possibly damaging	0.80
R4357:Dnaja3	UTSW	16	4,517,731 (GRCm39)	missense	probably damaging	0.96
R4434:Dnaja3	UTSW	16	4,507,859 (GRCm39)	nonsense	probably null
R5072:Dnaja3	UTSW	16	4,514,289 (GRCm39)	missense	probably damaging	0.96
R5073:Dnaja3	UTSW	16	4,514,289 (GRCm39)	missense	probably damaging	0.96
R5074:Dnaja3	UTSW	16	4,514,289 (GRCm39)	missense	probably damaging	0.96
R5160:Dnaja3	UTSW	16	4,502,152 (GRCm39)	missense	probably benign	0.01
R5174:Dnaja3	UTSW	16	4,502,161 (GRCm39)	missense	probably benign
R5347:Dnaja3	UTSW	16	4,512,346 (GRCm39)	missense	possibly damaging	0.78
R7106:Dnaja3	UTSW	16	4,523,798 (GRCm39)	missense	probably benign	0.13
R7214:Dnaja3	UTSW	16	4,519,046 (GRCm39)	missense	possibly damaging	0.61
R7673:Dnaja3	UTSW	16	4,512,328 (GRCm39)	missense	probably benign	0.25
R8069:Dnaja3	UTSW	16	4,502,131 (GRCm39)	missense	probably benign
R8154:Dnaja3	UTSW	16	4,517,740 (GRCm39)	missense	possibly damaging	0.53
R8811:Dnaja3	UTSW	16	4,514,383 (GRCm39)	missense	probably benign	0.31
R9128:Dnaja3	UTSW	16	4,520,164 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AATAGGCCCTATAGCTGGGG -3'
(R):5'- AGCAGGCTATACATCAAGGCAG -3'

Sequencing Primer
(F):5'- GATATTTCGTAGCTGGTCAC -3'
(R):5'- TGACCAGACCAGCAATCT -3'

Posted On

2021-01-18