Mutagenetix > Incidental Mutation

Incidental Mutation 'R7106:Dnaja3'

551203

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

045198-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4501934-4525559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4523798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 477 (I477T)

Ref Sequence

ENSEMBL: ENSMUSP00000053842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060067] [ENSMUST00000115854] [ENSMUST00000120056] [ENSMUST00000229529]

AlphaFold

Q99M87

Predicted Effect

probably benign
Transcript: ENSMUST00000060067
AA Change: I477T

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: I477T

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

probably benign
Transcript: ENSMUST00000120056

SMART Domains

Protein: ENSMUSP00000112754
Gene: ENSMUSG00000063445

Domain	Start	End	E-Value	Type
Pfam:adh_short	5	80	1.1e-6	PFAM
Pfam:KR	6	79	7.4e-7	PFAM
Pfam:TrkA_N	7	112	5.9e-7	PFAM
Pfam:NAD_binding_10	7	188	4.2e-16	PFAM
Pfam:NmrA	7	240	6.7e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229529
AA Change: I426T

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (62/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	T	C	4: 49,541,258 (GRCm39)	Y138C	probably damaging	Het
Ano7	A	C	1: 93,302,705 (GRCm39)		probably null	Het
Arvcf	T	A	16: 18,217,799 (GRCm39)	V497E	probably damaging	Het
Atad2	A	G	15: 57,980,162 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,747,615 (GRCm39)	A163T	probably benign	Het
Catsperd	C	A	17: 56,965,070 (GRCm39)		probably null	Het
Ccm2l	A	G	2: 152,912,571 (GRCm39)	H70R	possibly damaging	Het
Cgnl1	G	A	9: 71,633,015 (GRCm39)	T112I	probably benign	Het
Chid1	T	C	7: 141,102,573 (GRCm39)	H220R	probably benign	Het
Clca3a1	A	G	3: 144,733,190 (GRCm39)	V106A	probably damaging	Het
Cldn23	A	C	8: 36,293,069 (GRCm39)	S140A	probably benign	Het
Dennd2c	T	C	3: 103,038,893 (GRCm39)	S14P	possibly damaging	Het
Det1	T	C	7: 78,493,212 (GRCm39)	D264G	probably damaging	Het
Dmwd	T	C	7: 18,814,454 (GRCm39)	V368A	probably damaging	Het
Dnah11	T	C	12: 117,924,884 (GRCm39)	K3362E	probably benign	Het
Dnah8	T	C	17: 30,960,152 (GRCm39)	F2208L	probably damaging	Het
Dnmt3a	A	G	12: 3,947,591 (GRCm39)	K482E	probably damaging	Het
Dock7	A	G	4: 98,855,563 (GRCm39)	I1493T	unknown	Het
Ehbp1l1	A	G	19: 5,768,765 (GRCm39)	V846A	probably benign	Het
Fbxl4	T	A	4: 22,427,140 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,595,944 (GRCm39)	L534*	probably null	Het
Fgfr3	T	C	5: 33,888,758 (GRCm39)	V349A	probably damaging	Het
Gal3st1	A	T	11: 3,948,509 (GRCm39)	I239F	probably damaging	Het
Gpatch3	C	A	4: 133,305,514 (GRCm39)	H250N	probably benign	Het
Guca1b	A	T	17: 47,702,236 (GRCm39)	K230*	probably null	Het
Itga3	G	T	11: 94,946,699 (GRCm39)	L737I	probably benign	Het
Kmt5c	A	G	7: 4,745,705 (GRCm39)	K122E	probably damaging	Het
Kpna4	G	A	3: 68,986,797 (GRCm39)	Q531*	probably null	Het
Lctl	A	G	9: 64,040,119 (GRCm39)	E410G	probably benign	Het
Lhx1	T	C	11: 84,412,903 (GRCm39)	N128D	probably benign	Het
Lifr	A	G	15: 7,202,405 (GRCm39)	N349D	probably benign	Het
Map2	G	A	1: 66,449,903 (GRCm39)	A209T	possibly damaging	Het
Mif4gd	G	A	11: 115,502,737 (GRCm39)	A25V	probably damaging	Het
Mug2	T	C	6: 122,059,680 (GRCm39)	S1353P	probably damaging	Het
Myh9	A	G	15: 77,659,321 (GRCm39)	C931R	probably benign	Het
Nelfe	T	G	17: 35,071,395 (GRCm39)		probably null	Het
Nrf1	A	G	6: 30,102,183 (GRCm39)	S161G	probably benign	Het
Pik3c2a	G	A	7: 116,017,368 (GRCm39)	Q130*	probably null	Het
Prex2	T	A	1: 11,207,017 (GRCm39)	M525K	probably benign	Het
Psme2	A	G	14: 55,825,694 (GRCm39)	S165P	probably benign	Het
Rapgef2	A	G	3: 78,973,915 (GRCm39)	F1477S	probably benign	Het
Rasef	A	T	4: 73,645,864 (GRCm39)	C502S	probably damaging	Het
Rpap2	T	A	5: 107,780,988 (GRCm39)	L565*	probably null	Het
Sav1	A	G	12: 70,031,390 (GRCm39)	I44T	probably damaging	Het
Selp	T	A	1: 163,953,991 (GRCm39)	I97N	probably benign	Het
Serpina1d	A	G	12: 103,731,980 (GRCm39)	F293S	probably benign	Het
Sin3b	T	C	8: 73,450,765 (GRCm39)	F65L	possibly damaging	Het
Sorcs3	G	C	19: 48,694,402 (GRCm39)	G559R	probably damaging	Het
Susd2	A	T	10: 75,473,887 (GRCm39)	D689E	probably damaging	Het
Tas1r2	A	T	4: 139,389,360 (GRCm39)	M448L	probably benign	Het
Tbc1d30	A	T	10: 121,137,897 (GRCm39)	I181N	possibly damaging	Het
Tcea3	A	G	4: 135,998,679 (GRCm39)	T318A	probably damaging	Het
Tomm70a	T	C	16: 56,961,121 (GRCm39)	V358A	probably damaging	Het
Tpp1	A	C	7: 105,399,118 (GRCm39)	S153A	possibly damaging	Het
Trip13	C	T	13: 74,062,651 (GRCm39)	V387I	probably benign	Het
Ttn	T	C	2: 76,627,832 (GRCm39)	I14704V	probably benign	Het
Uimc1	C	A	13: 55,198,628 (GRCm39)	C516F	possibly damaging	Het
Vit	A	G	17: 78,894,228 (GRCm39)	N210S	probably benign	Het
Vmn1r22	G	T	6: 57,877,296 (GRCm39)	T227K	probably damaging	Het
Vmn2r5	A	G	3: 64,399,104 (GRCm39)	I625T	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het
Zfp384	T	C	6: 125,001,222 (GRCm39)	L98P	probably benign	Het
Zfp809	G	T	9: 22,147,520 (GRCm39)	K51N	probably benign	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
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
R8477:Dnaja3	UTSW	16	4,505,212 (GRCm39)	missense	probably null	0.68
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'- AGAGTGGCCCTTATGTTCCTG -3'
(R):5'- CTCTGCCCCAAGGATTGAAG -3'

Sequencing Primer
(F):5'- ACTCCTCAGCTTTTGGGCAGTTAG -3'
(R):5'- CCCCAAGGATTGAAGGGGAACC -3'

Posted On

2019-05-15