Mutagenetix > Incidental Mutation

Incidental Mutation 'R6671:Dnajb6'

527131

Institutional Source

Beutler Lab

Gene Symbol

Dnajb6

Ensembl Gene

ENSMUSG00000029131

Gene Name

DnaJ heat shock protein family (Hsp40) member B6

Synonyms

Mrj, mDj4

MMRRC Submission

044791-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29940896-29991476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29953418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000110488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008733] [ENSMUST00000012734] [ENSMUST00000114839] [ENSMUST00000196528] [ENSMUST00000196785] [ENSMUST00000198694]

AlphaFold

O54946

Predicted Effect

probably damaging
Transcript: ENSMUST00000008733
AA Change: E17G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008733
Gene: ENSMUSG00000029131
AA Change: E17G

Domain	Start	End	E-Value	Type
DnaJ	2	61	4.64e-32	SMART
low complexity region	109	124	N/A	INTRINSIC
low complexity region	125	158	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC
low complexity region	249	261	N/A	INTRINSIC
low complexity region	272	293	N/A	INTRINSIC
low complexity region	339	363	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000012734
AA Change: E17G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000012734
Gene: ENSMUSG00000029131
AA Change: E17G

Domain	Start	End	E-Value	Type
DnaJ	2	61	4.64e-32	SMART
low complexity region	111	124	N/A	INTRINSIC
low complexity region	192	205	N/A	INTRINSIC
coiled coil region	223	244	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114839
AA Change: E17G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110488
Gene: ENSMUSG00000029131
AA Change: E17G

Domain	Start	End	E-Value	Type
DnaJ	2	61	4.64e-32	SMART
low complexity region	109	124	N/A	INTRINSIC
low complexity region	125	158	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196528
AA Change: E17G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142878
Gene: ENSMUSG00000029131
AA Change: E17G

Domain	Start	End	E-Value	Type
DnaJ	2	61	3e-34	SMART
low complexity region	109	124	N/A	INTRINSIC
low complexity region	125	158	N/A	INTRINSIC
low complexity region	166	185	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196785
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198694
AA Change: E17G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142783
Gene: ENSMUSG00000029131
AA Change: E17G

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.4e-23	SMART

Meta Mutation Damage Score

0.1233

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

97% (32/33)

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 protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants died at mid-gestation due to a failure of chorioallantoic fusion at embryonic day 8.5, and thus preventing the formation of a mature placenta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	T	C	6: 131,528,313 (GRCm39)		probably null	Het
Abce1	A	G	8: 80,415,806 (GRCm39)	V404A	probably benign	Het
Cpd	T	A	11: 76,686,359 (GRCm39)	I990F	probably damaging	Het
Ddhd1	CA	C	14: 45,894,689 (GRCm39)		probably null	Het
Fastk	T	C	5: 24,646,607 (GRCm39)	D308G	probably damaging	Het
Fkbp14	A	G	6: 54,556,662 (GRCm39)	Y69H	probably damaging	Het
Gldn	T	C	9: 54,245,691 (GRCm39)	L414P	probably damaging	Het
Glmn	T	A	5: 107,697,280 (GRCm39)	M487L	probably benign	Het
Gm3404	C	A	5: 146,464,487 (GRCm39)	R163S	probably benign	Het
Gm5591	T	G	7: 38,219,523 (GRCm39)	D450A	possibly damaging	Het
Gucy1b1	T	C	3: 81,941,715 (GRCm39)	T575A	probably benign	Het
Hydin	T	A	8: 111,327,950 (GRCm39)	V4819D	probably damaging	Het
Ikbip	A	G	10: 90,932,469 (GRCm39)		probably null	Het
Mertk	G	T	2: 128,593,943 (GRCm39)		probably null	Het
Mfsd1	T	C	3: 67,492,995 (GRCm39)	V93A	possibly damaging	Het
Myh11	A	T	16: 14,044,480 (GRCm39)	M641K	possibly damaging	Het
Myo3a	A	T	2: 22,299,333 (GRCm39)	N269Y	probably damaging	Het
Nisch	A	T	14: 30,926,420 (GRCm39)		probably benign	Het
Otof	A	G	5: 30,576,877 (GRCm39)	V125A	probably benign	Het
Pla2g4a	A	G	1: 149,763,382 (GRCm39)	I93T	probably benign	Het
Prrc2c	A	G	1: 162,525,154 (GRCm39)	I484T	probably damaging	Het
Qrich1	T	A	9: 108,410,985 (GRCm39)	I170N	probably benign	Het
Rb1	A	T	14: 73,434,706 (GRCm39)	M904K	probably damaging	Het
Rgs11	A	T	17: 26,427,272 (GRCm39)	K399M	probably damaging	Het
Tmprss13	C	T	9: 45,254,529 (GRCm39)	T432M	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Vps53	A	G	11: 76,025,332 (GRCm39)	Y171H	probably damaging	Het
Zbtb8b	C	T	4: 129,321,577 (GRCm39)	R395Q	probably damaging	Het
Zfp81	A	T	17: 33,554,413 (GRCm39)	C134S	probably benign	Het
Zranb1	A	G	7: 132,573,042 (GRCm39)	D403G	probably damaging	Het

Other mutations in Dnajb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Dnajb6	APN	5	29,957,416 (GRCm39)	missense	probably damaging	1.00
IGL02706:Dnajb6	APN	5	29,957,421 (GRCm39)	missense	probably damaging	1.00
R0211:Dnajb6	UTSW	5	29,990,077 (GRCm39)	intron	probably benign
R0829:Dnajb6	UTSW	5	29,990,020 (GRCm39)	intron	probably benign
R0925:Dnajb6	UTSW	5	29,957,398 (GRCm39)	missense	probably damaging	0.98
R1776:Dnajb6	UTSW	5	29,990,091 (GRCm39)	intron	probably benign
R2357:Dnajb6	UTSW	5	29,958,638 (GRCm39)	missense	probably damaging	0.98
R3979:Dnajb6	UTSW	5	29,956,006 (GRCm39)	missense	possibly damaging	0.88
R4151:Dnajb6	UTSW	5	29,961,234 (GRCm39)	missense	probably benign
R6243:Dnajb6	UTSW	5	29,986,131 (GRCm39)	missense	probably benign	0.08
R7206:Dnajb6	UTSW	5	29,986,335 (GRCm39)	missense	possibly damaging	0.94
R7440:Dnajb6	UTSW	5	29,962,857 (GRCm39)	missense	possibly damaging	0.85
R7536:Dnajb6	UTSW	5	29,962,804 (GRCm39)	missense	possibly damaging	0.72
R8334:Dnajb6	UTSW	5	29,986,238 (GRCm39)	missense	unknown
R9485:Dnajb6	UTSW	5	29,986,517 (GRCm39)	nonsense	probably null
R9665:Dnajb6	UTSW	5	29,971,374 (GRCm39)	missense	probably damaging	1.00
Z1176:Dnajb6	UTSW	5	29,957,443 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AAGTTCTCTCTGGGCCAGTAG -3'
(R):5'- ACTGGTGTCTGCCTATCATG -3'

Sequencing Primer
(F):5'- GGTGCTGAGAAGGAACCGACTC -3'
(R):5'- GAGAACCTGTTGCTCTTACTGAGATC -3'

Posted On

2018-07-23