Mutagenetix > Incidental Mutation

Incidental Mutation 'R1733:Dnaja3'

199525

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

039765-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1733 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

4501934-4525559 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4502029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 11 (R11K)

Ref Sequence

ENSEMBL: ENSMUSP00000111520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038552] [ENSMUST00000060067] [ENSMUST00000090480] [ENSMUST00000115854] [ENSMUST00000135823] [ENSMUST00000229529]

AlphaFold

Q99M87

Predicted Effect

probably benign
Transcript: ENSMUST00000038552

SMART Domains

Protein: ENSMUSP00000048489
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART
DUF1900	251	385	4.49e-60	SMART
low complexity region	427	456	N/A	INTRINSIC
DUF1899	463	528	1.2e-19	SMART
WD40	531	570	3.64e-2	SMART
WD40	580	620	8.55e-8	SMART
WD40	623	662	1.16e-9	SMART
low complexity region	667	679	N/A	INTRINSIC
DUF1900	718	854	6.69e-68	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000060067
AA Change: R11K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000053842
Gene: ENSMUSG00000004069
AA Change: R11K

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: ENSMUST00000090480

SMART Domains

Protein: ENSMUSP00000087966
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115854
AA Change: R11K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000111520
Gene: ENSMUSG00000004069
AA Change: R11K

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: ENSMUST00000123031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127850

Predicted Effect

probably benign
Transcript: ENSMUST00000135823

SMART Domains

Protein: ENSMUSP00000118310
Gene: ENSMUSG00000039637

Domain	Start	End	E-Value	Type
DUF1899	3	64	6.41e-15	SMART
WD40	66	106	1.83e-7	SMART
WD40	115	154	4.13e0	SMART
WD40	157	196	1.78e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144815

Predicted Effect

probably null
Transcript: ENSMUST00000229529
AA Change: R11K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

95% (95/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	G	18: 59,165,001 (GRCm39)	C1034W	probably damaging	Het
Agbl2	G	T	2: 90,641,089 (GRCm39)	K737N	probably damaging	Het
Aqp9	T	A	9: 71,019,624 (GRCm39)	I279F	possibly damaging	Het
Aspm	T	A	1: 139,384,855 (GRCm39)	N166K	probably benign	Het
Atp13a3	A	T	16: 30,176,084 (GRCm39)	I186N	probably benign	Het
Btaf1	A	T	19: 36,972,362 (GRCm39)	I1366L	probably benign	Het
Camk4	A	C	18: 33,211,074 (GRCm39)	K60Q	possibly damaging	Het
Card11	G	T	5: 140,892,388 (GRCm39)	Q226K	possibly damaging	Het
Ccdc187	T	C	2: 26,183,670 (GRCm39)	D110G	possibly damaging	Het
Col5a2	C	T	1: 45,446,192 (GRCm39)	R462Q	possibly damaging	Het
Cp	A	T	3: 20,022,383 (GRCm39)		probably benign	Het
Cpz	A	T	5: 35,675,102 (GRCm39)	V38E	probably damaging	Het
Cxcr6	G	A	9: 123,639,181 (GRCm39)	V68I	probably damaging	Het
Cyp2a22	C	A	7: 26,634,187 (GRCm39)	E322D	possibly damaging	Het
D130052B06Rik	C	T	11: 33,573,784 (GRCm39)	T127I	probably benign	Het
Daam2	T	A	17: 49,797,231 (GRCm39)	M185L	possibly damaging	Het
Dnttip2	T	A	3: 122,070,397 (GRCm39)	S537R	probably benign	Het
Dock9	G	T	14: 121,864,292 (GRCm39)	H572Q	probably benign	Het
Dpp4	T	A	2: 62,203,213 (GRCm39)		probably null	Het
Enc1	T	G	13: 97,381,550 (GRCm39)	I20S	possibly damaging	Het
Ephb6	T	A	6: 41,596,654 (GRCm39)	H900Q	probably benign	Het
Ercc3	T	C	18: 32,400,218 (GRCm39)	V690A	possibly damaging	Het
Fam90a1a	C	T	8: 22,453,385 (GRCm39)	Q247*	probably null	Het
Fkbp10	G	A	11: 100,314,757 (GRCm39)	R423H	probably benign	Het
Fus	A	G	7: 127,580,717 (GRCm39)	M265V	probably benign	Het
Gas2l3	T	A	10: 89,250,127 (GRCm39)	K330N	probably damaging	Het
Gpam	T	G	19: 55,069,901 (GRCm39)	L410F	probably damaging	Het
Gpr37l1	A	T	1: 135,089,273 (GRCm39)	V264E	possibly damaging	Het
Grk6	A	T	13: 55,600,979 (GRCm39)		probably benign	Het
Gsto1	G	T	19: 47,843,674 (GRCm39)	V19F	probably damaging	Het
H1f7	G	T	15: 98,154,016 (GRCm39)	Q378K	unknown	Het
Hgfac	G	A	5: 35,201,018 (GRCm39)	C194Y	probably damaging	Het
Hivep1	A	G	13: 42,311,407 (GRCm39)	N1216D	probably damaging	Het
Hrg	C	T	16: 22,769,997 (GRCm39)	A42V	probably damaging	Het
Irx4	A	G	13: 73,414,824 (GRCm39)	D136G	probably benign	Het
Kcnn3	G	T	3: 89,559,397 (GRCm39)	V556L	probably benign	Het
Klk1b8	T	C	7: 43,451,545 (GRCm39)	Y179H	possibly damaging	Het
Klrb1f	T	A	6: 129,031,322 (GRCm39)	L173*	probably null	Het
Kremen2	A	T	17: 23,962,373 (GRCm39)		probably null	Het
Krt25	A	T	11: 99,207,378 (GRCm39)	Y400*	probably null	Het
Lingo4	A	T	3: 94,310,485 (GRCm39)	R474S	probably benign	Het
Lnpep	T	C	17: 17,773,575 (GRCm39)	K599E	probably benign	Het
Mapk8ip3	A	T	17: 25,155,824 (GRCm39)	M2K	possibly damaging	Het
Mat2b	A	T	11: 40,570,904 (GRCm39)	S307T	probably benign	Het
Mcph1	C	A	8: 18,681,979 (GRCm39)	A372D	probably benign	Het
Mfsd6	T	A	1: 52,748,524 (GRCm39)	I114F	probably damaging	Het
Mlkl	A	G	8: 112,049,380 (GRCm39)	S248P	probably damaging	Het
Mmrn1	A	T	6: 60,954,085 (GRCm39)	T789S	probably benign	Het
Mphosph8	A	G	14: 56,930,916 (GRCm39)	Y735C	probably damaging	Het
Mrc1	T	A	2: 14,261,910 (GRCm39)	Y300N	probably damaging	Het
Mrps11	A	G	7: 78,442,460 (GRCm39)	H180R	probably damaging	Het
Msh4	T	C	3: 153,573,404 (GRCm39)	D556G	probably damaging	Het
Myh10	C	A	11: 68,693,122 (GRCm39)	D1472E	probably benign	Het
Myo16	T	C	8: 10,492,283 (GRCm39)	S742P	probably damaging	Het
Nlrp5-ps	C	T	7: 14,316,978 (GRCm39)		noncoding transcript	Het
Nrp1	C	T	8: 129,194,974 (GRCm39)	P477S	probably benign	Het
Oplah	G	T	15: 76,186,683 (GRCm39)	C665*	probably null	Het
Or4f14b	T	A	2: 111,775,625 (GRCm39)	M59L	probably benign	Het
Or4f54	T	C	2: 111,123,210 (GRCm39)	V199A	probably damaging	Het
Or51b17	T	C	7: 103,542,118 (GRCm39)	S275G	probably benign	Het
Or8g22	G	T	9: 38,958,678 (GRCm39)	H57N	unknown	Het
Otogl	T	C	10: 107,619,573 (GRCm39)	T1696A	possibly damaging	Het
Pdzrn4	A	G	15: 92,299,855 (GRCm39)	I242V	probably benign	Het
Phgdh	G	A	3: 98,235,451 (GRCm39)	T141I	probably benign	Het
Pigv	T	C	4: 133,392,237 (GRCm39)	Y311C	probably damaging	Het
Pik3c2a	T	G	7: 116,017,755 (GRCm39)	M1L	possibly damaging	Het
Pitpnm1	A	T	19: 4,159,960 (GRCm39)	K760*	probably null	Het
Pnrc1	G	A	4: 33,246,438 (GRCm39)	H174Y	probably damaging	Het
Ptgis	A	G	2: 167,033,888 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,643,773 (GRCm39)		probably null	Het
Rin3	T	A	12: 102,335,589 (GRCm39)	L420*	probably null	Het
Sacs	T	G	14: 61,442,903 (GRCm39)	F1650V	probably damaging	Het
Sbno2	T	A	10: 79,894,342 (GRCm39)	N1081Y	possibly damaging	Het
Sema5b	C	T	16: 35,466,737 (GRCm39)	P213L	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint6	T	A	4: 113,034,234 (GRCm39)		probably benign	Het
Slc4a2	A	G	5: 24,634,565 (GRCm39)	E68G	probably damaging	Het
Srcin1	C	T	11: 97,424,327 (GRCm39)	V634I	probably benign	Het
Srsf10	T	A	4: 135,590,476 (GRCm39)	F134I	possibly damaging	Het
Stab1	C	A	14: 30,867,260 (GRCm39)	G1700V	probably damaging	Het
Sun1	T	G	5: 139,216,544 (GRCm39)	C290W	possibly damaging	Het
Svs6	T	A	2: 164,159,577 (GRCm39)		probably benign	Het
Tmem8b	G	A	4: 43,690,228 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,983,238 (GRCm39)	D81G	probably damaging	Het
Vmn1r215	T	A	13: 23,260,848 (GRCm39)	V296D	probably benign	Het
Vmn1r6	T	A	6: 56,979,607 (GRCm39)	S90T	probably damaging	Het
Wbp2	A	G	11: 115,974,709 (GRCm39)	F42L	probably benign	Het
Wdr20rt	C	T	12: 65,274,055 (GRCm39)	T333I	possibly damaging	Het
Zfp341	C	T	2: 154,483,298 (GRCm39)	A552V	probably benign	Het
Zfp607b	A	T	7: 27,391,949 (GRCm39)	H8L	possibly damaging	Het
Zfp758	G	T	17: 22,594,830 (GRCm39)	D439Y	probably damaging	Het
Zfp946	T	C	17: 22,672,538 (GRCm39)	Y46H	probably damaging	Het
Zic2	G	A	14: 122,716,359 (GRCm39)	E432K	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
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
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'- AAGTGCAGCATTCGTTCCTACCTC -3'
(R):5'- GAGCCGAATCGCCCTTTCTAATCC -3'

Sequencing Primer
(F):5'- AGTCTAGCACTTGTACACGTTG -3'
(R):5'- TCTACTCCAGAGCTGGAAGC -3'

Posted On

2014-05-23