Mutagenetix > Incidental Mutation

Incidental Mutation 'R1854:Dnaja3'

205977

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

039878-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4501934-4525559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4515133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 266 (T266I)

Ref Sequence

ENSEMBL: ENSMUSP00000155588 (fasta)

Gene Model

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

AlphaFold

Q99M87

Predicted Effect

probably damaging
Transcript: ENSMUST00000060067
AA Change: T317I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: T317I

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 damaging
Transcript: ENSMUST00000115854
AA Change: T317I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: T317I

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

probably damaging
Transcript: ENSMUST00000229529
AA Change: T266I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	T	16: 88,504,668 (GRCm39)	R43K	possibly damaging	Het
Acp1	A	G	12: 30,947,804 (GRCm39)	I78T	possibly damaging	Het
Afap1l1	G	T	18: 61,876,365 (GRCm39)	D417E	probably benign	Het
Agap2	G	A	10: 126,916,385 (GRCm39)	V299I	unknown	Het
Ahnak	C	T	19: 8,991,196 (GRCm39)	A4160V	possibly damaging	Het
Anapc1	T	C	2: 128,517,810 (GRCm39)	E278G	probably damaging	Het
Atad2	G	A	15: 57,960,685 (GRCm39)	P971L	possibly damaging	Het
Atg2a	A	G	19: 6,302,461 (GRCm39)	E928G	probably benign	Het
Atp2b2	A	C	6: 113,819,244 (GRCm39)	N16K	probably damaging	Het
Atp6ap1l	T	C	13: 91,031,707 (GRCm39)	E325G	probably damaging	Het
Bfsp2	C	T	9: 103,327,030 (GRCm39)	G236S	probably benign	Het
Ccar1	A	T	10: 62,600,296 (GRCm39)	I545N	probably damaging	Het
Ccser2	A	G	14: 36,640,548 (GRCm39)	C11R	possibly damaging	Het
Cdc42bpg	A	T	19: 6,370,837 (GRCm39)	H1310L	possibly damaging	Het
Ces1h	T	C	8: 94,085,450 (GRCm39)	K339E	probably benign	Het
Cfap91	T	C	16: 38,144,659 (GRCm39)		probably null	Het
Cit	A	G	5: 116,011,960 (GRCm39)	Y189C	probably damaging	Het
Cnih3	C	A	1: 181,282,186 (GRCm39)	S140*	probably null	Het
Cntrl	A	G	2: 35,012,696 (GRCm39)	D278G	probably damaging	Het
Col24a1	G	A	3: 145,164,895 (GRCm39)	G1033D	probably damaging	Het
Col6a1	T	G	10: 76,557,783 (GRCm39)	Y151S	probably damaging	Het
Col6a2	T	A	10: 76,450,646 (GRCm39)	Q95L	probably damaging	Het
Cpd	G	T	11: 76,677,164 (GRCm39)	P1185Q	probably damaging	Het
Cycs	T	A	6: 50,542,309 (GRCm39)	I76F	possibly damaging	Het
Cyp4f16	T	A	17: 32,756,073 (GRCm39)	I34N	probably damaging	Het
Ddx1	A	C	12: 13,279,332 (GRCm39)	S436A	probably benign	Het
Defa30	A	G	8: 21,625,500 (GRCm39)	Y88C	probably damaging	Het
Dhx30	G	A	9: 109,917,740 (GRCm39)	L317F	probably damaging	Het
Dll3	C	A	7: 27,995,835 (GRCm39)	G322V	probably damaging	Het
Dnah10	G	A	5: 124,881,753 (GRCm39)	D2843N	probably damaging	Het
Dpp9	T	C	17: 56,509,885 (GRCm39)	I314V	probably benign	Het
E030025P04Rik	A	G	11: 109,034,744 (GRCm39)	V48A	unknown	Het
Enpp2	C	T	15: 54,709,219 (GRCm39)	E803K	probably damaging	Het
Eri3	G	A	4: 117,506,562 (GRCm39)	G297D	probably benign	Het
Esp34	A	G	17: 38,870,424 (GRCm39)	E38G	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frzb	A	G	2: 80,276,724 (GRCm39)	V154A	possibly damaging	Het
Fsip2	G	T	2: 82,823,601 (GRCm39)	A6445S	possibly damaging	Het
Gm11938	G	A	11: 99,493,843 (GRCm39)	T84I	possibly damaging	Het
Gm4787	T	A	12: 81,425,108 (GRCm39)	H350L	probably damaging	Het
Gpa33	A	G	1: 165,992,759 (GRCm39)	I291V	probably benign	Het
Gpr158	A	G	2: 21,373,935 (GRCm39)	Y290C	probably damaging	Het
Gpsm1	G	T	2: 26,234,725 (GRCm39)	G84W	probably damaging	Het
Hormad1	A	G	3: 95,487,317 (GRCm39)	N267S	probably benign	Het
Htr2a	A	T	14: 74,943,193 (GRCm39)	I258F	probably damaging	Het
Htra4	T	C	8: 25,523,597 (GRCm39)	T323A	probably damaging	Het
Ift140	T	A	17: 25,254,813 (GRCm39)	F162Y	probably benign	Het
Islr2	T	C	9: 58,107,099 (GRCm39)	T54A	probably damaging	Het
Kcna4	T	G	2: 107,126,829 (GRCm39)	V521G	probably damaging	Het
Kdr	C	T	5: 76,113,565 (GRCm39)	G768S	possibly damaging	Het
Kif6	G	T	17: 50,208,799 (GRCm39)	A740S	probably benign	Het
Lad1	T	A	1: 135,755,468 (GRCm39)	V248E	probably damaging	Het
Lamb1	T	G	12: 31,368,271 (GRCm39)	C1134G	probably damaging	Het
Lamc1	A	G	1: 153,125,618 (GRCm39)	Y552H	probably damaging	Het
Mctp1	A	T	13: 76,973,860 (GRCm39)	T706S	probably damaging	Het
Med12l	A	G	3: 59,168,193 (GRCm39)	Y1541C	probably damaging	Het
Mnx1	C	T	5: 29,682,780 (GRCm39)	S165N	unknown	Het
Morn3	A	T	5: 123,184,692 (GRCm39)		probably null	Het
Nalcn	C	T	14: 123,697,824 (GRCm39)	R484Q	probably damaging	Het
Nr4a1	T	C	15: 101,169,645 (GRCm39)	I305T	probably benign	Het
Or1j11	C	T	2: 36,311,886 (GRCm39)	H159Y	probably damaging	Het
Or2z2	G	A	11: 58,346,257 (GRCm39)	R173W	probably damaging	Het
Pabir2	T	A	X: 52,342,933 (GRCm39)	Q201H	probably benign	Het
Pcdhb5	T	C	18: 37,455,393 (GRCm39)	V591A	possibly damaging	Het
Pdia3	T	C	2: 121,262,144 (GRCm39)	I205T	probably benign	Het
Pdia4	A	T	6: 47,790,161 (GRCm39)	D26E	unknown	Het
Phactr3	C	A	2: 177,924,940 (GRCm39)	L292M	probably damaging	Het
Phf21b	T	A	15: 84,738,963 (GRCm39)	I21F	probably benign	Het
Pign	A	G	1: 105,482,223 (GRCm39)	V791A	probably damaging	Het
Pitpna	A	G	11: 75,499,929 (GRCm39)		probably null	Het
Piwil1	G	T	5: 128,824,903 (GRCm39)	E534*	probably null	Het
Plcz1	T	A	6: 139,938,775 (GRCm39)	I526F	probably benign	Het
Pms2	A	T	5: 143,862,714 (GRCm39)	K607I	probably benign	Het
Pnn	T	A	12: 59,118,399 (GRCm39)	N327K	probably damaging	Het
Pogz	C	T	3: 94,786,160 (GRCm39)	T863I	probably benign	Het
Polq	C	T	16: 36,882,471 (GRCm39)	T1545I	probably benign	Het
Psd4	G	A	2: 24,287,468 (GRCm39)	E467K	probably benign	Het
Pstpip2	T	A	18: 77,959,499 (GRCm39)	L198Q	probably damaging	Het
Pzp	T	C	6: 128,479,188 (GRCm39)	Y655C	probably damaging	Het
Qrsl1	C	T	10: 43,770,541 (GRCm39)	G117E	probably damaging	Het
Rad54b	G	A	4: 11,601,669 (GRCm39)	C408Y	probably damaging	Het
Ralb	T	A	1: 119,403,797 (GRCm39)	Q110L	possibly damaging	Het
Rrm2	A	G	12: 24,763,151 (GRCm39)	K218E	probably damaging	Het
Siglece	A	G	7: 43,309,360 (GRCm39)	F66S	probably benign	Het
Slc17a8	A	T	10: 89,442,627 (GRCm39)	C69S	unknown	Het
Slc1a6	T	A	10: 78,648,758 (GRCm39)	V493E	probably damaging	Het
Slc38a11	A	T	2: 65,193,860 (GRCm39)		probably null	Het
Smarcal1	G	A	1: 72,625,258 (GRCm39)	G135D	possibly damaging	Het
Snrnp70	T	A	7: 45,026,644 (GRCm39)	R242*	probably null	Het
St3gal5	T	C	6: 72,109,077 (GRCm39)	L55P	probably damaging	Het
Sulf1	A	G	1: 12,908,661 (GRCm39)	N558S	probably benign	Het
Supt6	T	C	11: 78,123,366 (GRCm39)	I104V	possibly damaging	Het
Tas2r113	T	A	6: 132,870,292 (GRCm39)	Y107N	probably damaging	Het
Tcf7	A	G	11: 52,147,891 (GRCm39)	V187A	probably benign	Het
Tdrd9	G	A	12: 112,011,246 (GRCm39)	G1152R	probably damaging	Het
Tfpi	A	G	2: 84,288,451 (GRCm39)	Y9H	probably benign	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Trim72	A	G	7: 127,608,254 (GRCm39)	I251V	probably benign	Het
Trip12	T	A	1: 84,705,866 (GRCm39)	N655Y	probably damaging	Het
Ttn	A	G	2: 76,581,773 (GRCm39)	V23040A	probably damaging	Het
Tulp2	T	A	7: 45,167,367 (GRCm39)	N188K	probably damaging	Het
Ube2c	C	T	2: 164,613,282 (GRCm39)	H67Y	probably damaging	Het
Unc80	C	A	1: 66,670,573 (GRCm39)	P1899T	possibly damaging	Het
Usp34	C	T	11: 23,376,153 (GRCm39)	A1879V	probably benign	Het
Vmn2r118	G	A	17: 55,918,556 (GRCm39)	S112L	possibly damaging	Het
Wdfy3	A	T	5: 102,036,052 (GRCm39)	V2122E	probably benign	Het
Zcchc4	A	G	5: 52,973,168 (GRCm39)	Y344C	probably damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,344,701 (GRCm39)		probably null	Het
Zdhhc25	A	T	15: 88,484,689 (GRCm39)	H8L	probably benign	Het
Zfp455	A	T	13: 67,355,881 (GRCm39)	H383L	probably damaging	Het
Zfp663	A	G	2: 165,195,211 (GRCm39)	I336T	probably benign	Het
Zfp738	T	A	13: 67,818,476 (GRCm39)	H505L	probably damaging	Het
Zfp84	T	G	7: 29,474,796 (GRCm39)	F23V	possibly 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
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
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'- ACATGAGCAGGAAACAAGCTATTAC -3'
(R):5'- GGCAGCCTTTCCTTAACTGG -3'

Sequencing Primer
(F):5'- TGTTAACCTCAGTACTCAGGCAGG -3'
(R):5'- TGGAACAGCAACACCTGTG -3'

Posted On

2014-06-23