Mutagenetix > Incidental Mutation

Incidental Mutation 'R8154:Dnaja3'

633224

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

067580-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4501934-4525559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4517740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 375 (T375K)

Ref Sequence

ENSEMBL: ENSMUSP00000053842 (fasta)

Gene Model

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

AlphaFold

Q99M87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060067
AA Change: T375K

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: T375K

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

possibly damaging
Transcript: ENSMUST00000115854
AA Change: T375K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: T375K

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

possibly damaging
Transcript: ENSMUST00000229529
AA Change: T324K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810037I17Rik	G	T	3: 122,718,142 (GRCm39)	G12C	probably damaging	Het
Adam34l	A	T	8: 44,078,424 (GRCm39)	I600N	probably damaging	Het
Adamts10	C	A	17: 33,756,902 (GRCm39)	P357T	probably damaging	Het
Bmyc	T	A	2: 25,597,346 (GRCm39)	S137T	probably damaging	Het
Bpifa1	T	A	2: 153,987,654 (GRCm39)	M168K	possibly damaging	Het
Card11	T	G	5: 140,886,732 (GRCm39)	K339T	probably damaging	Het
Ccdc149	C	T	5: 52,542,446 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,896 (GRCm39)	S193P	probably benign	Het
Cracd	A	T	5: 76,989,644 (GRCm39)	E62D	unknown	Het
Csf2rb	A	G	15: 78,224,642 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,281,434 (GRCm39)	E576G	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,493 (GRCm39)	N238S	probably benign	Het
Espnl	C	T	1: 91,252,921 (GRCm39)	H217Y	possibly damaging	Het
Exoc4	T	C	6: 33,887,473 (GRCm39)	S754P	probably benign	Het
Fcgbp	A	G	7: 27,784,507 (GRCm39)	D189G	probably benign	Het
Gle1	T	A	2: 29,828,619 (GRCm39)		probably null	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gtf2i	A	T	5: 134,280,721 (GRCm39)	F583L	probably benign	Het
Heatr9	T	A	11: 83,402,703 (GRCm39)	Y532F	possibly damaging	Het
Hic2	C	T	16: 17,076,344 (GRCm39)	S391L	probably benign	Het
Hipk1	A	G	3: 103,656,652 (GRCm39)	V905A	probably damaging	Het
Inpp5f	T	G	7: 128,265,991 (GRCm39)	W211G	possibly damaging	Het
Katnip	T	C	7: 125,412,802 (GRCm39)	L382P	probably damaging	Het
Kcnma1	T	A	14: 23,361,822 (GRCm39)	Y1123F	possibly damaging	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Ldlrad4	C	T	18: 68,387,293 (GRCm39)	R202*	probably null	Het
Lmod3	T	A	6: 97,224,941 (GRCm39)	K293N	probably damaging	Het
Luzp1	T	C	4: 136,269,195 (GRCm39)	S473P	possibly damaging	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map4k4	T	G	1: 40,060,302 (GRCm39)	Y1030*	probably null	Het
Miga1	A	G	3: 152,026,337 (GRCm39)		probably benign	Het
Mrpl18	T	C	17: 13,130,608 (GRCm39)	E167G	probably damaging	Het
Myh4	A	G	11: 67,144,200 (GRCm39)	E1190G	probably damaging	Het
Ngef	C	T	1: 87,468,482 (GRCm39)	M92I	probably benign	Het
Nlrc4	T	A	17: 74,752,904 (GRCm39)	Y493F	probably damaging	Het
Or52s19	A	C	7: 103,007,763 (GRCm39)	C213G	probably benign	Het
Otud7a	C	A	7: 63,407,612 (GRCm39)	F638L	probably benign	Het
Padi2	T	A	4: 140,651,620 (GRCm39)		probably null	Het
Pcdhgb1	A	G	18: 37,815,596 (GRCm39)	I696V	probably damaging	Het
Pikfyve	T	C	1: 65,304,948 (GRCm39)	F1745S	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prrc2b	C	T	2: 32,108,689 (GRCm39)	A1637V	probably benign	Het
Rab3il1	A	T	19: 10,004,936 (GRCm39)	M57L	possibly damaging	Het
Rbl2	A	G	8: 91,833,825 (GRCm39)	D885G	probably damaging	Het
Rbm25	A	G	12: 83,691,205 (GRCm39)	M47V	unknown	Het
Rd3l	T	A	12: 111,946,638 (GRCm39)	H46L	probably benign	Het
Scn5a	C	G	9: 119,391,611 (GRCm39)	R27P	possibly damaging	Het
Set	T	A	2: 29,959,100 (GRCm39)	V99D	probably benign	Het
Sh3tc1	T	A	5: 35,875,696 (GRCm39)	I138F	probably damaging	Het
Slf2	T	A	19: 44,923,596 (GRCm39)	S137T	possibly damaging	Het
Smg8	A	T	11: 86,976,063 (GRCm39)	M506K	possibly damaging	Het
Stpg2	G	A	3: 139,014,938 (GRCm39)	V368M	probably damaging	Het
Trav16d-dv11	T	C	14: 53,284,999 (GRCm39)	V25A	probably damaging	Het
Ttc6	A	G	12: 57,776,210 (GRCm39)	Y1718C	probably damaging	Het
Vrk1	A	G	12: 106,036,793 (GRCm39)	K360E	probably benign	Het
Xirp2	T	A	2: 67,342,017 (GRCm39)	H1419Q	possibly damaging	Het
Yes1	T	C	5: 32,802,366 (GRCm39)	F94L	probably damaging	Het
Zc2hc1c	T	C	12: 85,336,946 (GRCm39)	L201P	probably benign	Het
Zfp638	C	T	6: 83,954,391 (GRCm39)	R1499W	probably damaging	Het
Znfx1	A	T	2: 166,897,157 (GRCm39)	L589Q	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
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'- TCAGGTTCCAAGGTCAGGTC -3'
(R):5'- TGCACATGGATGCAAACCTAAC -3'

Sequencing Primer
(F):5'- AGACACATGGCTGGTGTCTAGC -3'
(R):5'- CCTAACACAGGGAAGGCAACTG -3'

Posted On

2020-06-30