Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Dnajb8'

536205

Institutional Source

Beutler Lab

Gene Symbol

Dnajb8

Ensembl Gene

ENSMUSG00000048206

Gene Name

DnaJ heat shock protein family (Hsp40) member B8

Synonyms

mDj6, 1700016F14Rik

MMRRC Submission

044969-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.677) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88199250-88200238 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88200022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 186 (N186S)

Ref Sequence

ENSEMBL: ENSMUSP00000056592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061866]

AlphaFold

Q9QYI7

Predicted Effect

probably damaging
Transcript: ENSMUST00000061866
AA Change: N186S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056592
Gene: ENSMUSG00000048206
AA Change: N186S

Domain	Start	End	E-Value	Type
DnaJ	2	61	5.41e-33	SMART
low complexity region	155	181	N/A	INTRINSIC

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DNAJ/HSP40 family of proteins that regulate chaperone activity. This family member suppresses aggregation and toxicity of polyglutamine proteins, and the C-terminal tail is essential for this activity. It has been implicated as a cancer-testis antigen and as a cancer stem-like cell antigen involved in renal cell carcinoma. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,349,750 (GRCm39)	V336I	probably benign	Het
Aadacl4fm4	A	T	4: 144,397,216 (GRCm39)	L172*	probably null	Het
Abcg3	T	C	5: 105,083,860 (GRCm39)	T637A	probably benign	Het
Ap3d1	G	A	10: 80,550,156 (GRCm39)	R692*	probably null	Het
Aqp2	C	T	15: 99,481,885 (GRCm39)	H260Y	probably benign	Het
Btbd2	C	A	10: 80,480,166 (GRCm39)	R383L	probably damaging	Het
Ccdc196	T	A	12: 78,244,141 (GRCm39)	D31E	probably damaging	Het
Ccdc24	T	C	4: 117,727,123 (GRCm39)	T196A	probably benign	Het
Cdc20b	G	A	13: 113,220,509 (GRCm39)	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,486,212 (GRCm39)	R570*	probably null	Het
Col12a1	A	T	9: 79,584,516 (GRCm39)	N1357K	probably damaging	Het
Cpa5	A	T	6: 30,614,053 (GRCm39)	Q65L	probably benign	Het
Ddo	A	C	10: 40,513,414 (GRCm39)	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,981,653 (GRCm39)	L3058F	probably damaging	Het
Dock4	T	C	12: 40,862,325 (GRCm39)		probably null	Het
Ear6	A	G	14: 52,091,885 (GRCm39)	Y144C	probably damaging	Het
Eng	T	A	2: 32,563,287 (GRCm39)	I281N	probably damaging	Het
Fgf2	A	G	3: 37,458,860 (GRCm39)	K85E	probably damaging	Het
Fubp1	A	T	3: 151,931,783 (GRCm39)	Q37L	probably benign	Het
Gabra2	G	T	5: 71,251,882 (GRCm39)	P22T	probably damaging	Het
Gm10401	T	C	5: 115,236,245 (GRCm39)		probably benign	Het
Gsdmc	T	C	15: 63,650,556 (GRCm39)	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,060,034 (GRCm39)	I98T	probably damaging	Het
Lmod1	G	T	1: 135,292,879 (GRCm39)	R578L	probably damaging	Het
Mindy2	A	G	9: 70,524,044 (GRCm39)		probably null	Het
Neb	G	T	2: 52,183,657 (GRCm39)	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,658,674 (GRCm39)	N180T	probably benign	Het
Nlrp2	C	T	7: 5,311,709 (GRCm39)	R922H	probably benign	Het
Nol4l	T	C	2: 153,325,737 (GRCm39)	E116G	probably damaging	Het
Or1af1	A	T	2: 37,109,989 (GRCm39)	M163L	possibly damaging	Het
Or5ac19	A	G	16: 59,089,961 (GRCm39)	L23P	probably benign	Het
Pcdhb20	A	C	18: 37,639,218 (GRCm39)	E581D	probably benign	Het
Pidd1	G	T	7: 141,019,331 (GRCm39)	T750K	probably benign	Het
Rab44	A	G	17: 29,358,784 (GRCm39)	E324G	probably benign	Het
Ramp3	T	C	11: 6,624,768 (GRCm39)	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,605,850 (GRCm39)	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,310,519 (GRCm39)	K350Q	probably benign	Het
St13	C	T	15: 81,250,547 (GRCm39)		probably null	Het
Stard9	A	T	2: 120,544,549 (GRCm39)	K4497*	probably null	Het
Tbx19	A	T	1: 164,975,202 (GRCm39)		probably null	Het
Tgoln1	A	G	6: 72,592,538 (GRCm39)	V314A	possibly damaging	Het
Them4	A	T	3: 94,231,678 (GRCm39)	I172F	probably damaging	Het
Tmc7	T	A	7: 118,146,846 (GRCm39)	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,840,669 (GRCm39)	L421P	probably damaging	Het
Trim69	A	G	2: 121,998,391 (GRCm39)	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,194,976 (GRCm39)	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zbtb7a	A	G	10: 80,983,905 (GRCm39)	N449S	possibly damaging	Het
Zfhx3	C	T	8: 109,527,273 (GRCm39)	R1057W	probably damaging	Het
Zfp180	G	T	7: 23,805,306 (GRCm39)	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326 (GRCm39)	A1431T	probably benign	Het
Zfp592	T	C	7: 80,673,576 (GRCm39)	V180A	probably benign	Het
Zfp605	C	T	5: 110,275,311 (GRCm39)	P143L	probably benign	Het
Zfp646	T	C	7: 127,482,505 (GRCm39)	S1561P	probably benign	Het
Zfp706	T	C	15: 37,002,190 (GRCm39)	T46A	possibly damaging	Het

Other mutations in Dnajb8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Dnajb8	APN	6	88,199,836 (GRCm39)	missense	possibly damaging	0.62
IGL01671:Dnajb8	APN	6	88,199,902 (GRCm39)	missense	probably benign	0.00
IGL01838:Dnajb8	APN	6	88,200,033 (GRCm39)	missense	possibly damaging	0.85
IGL01976:Dnajb8	APN	6	88,199,508 (GRCm39)	missense	probably damaging	0.99
IGL03135:Dnajb8	APN	6	88,200,013 (GRCm39)	missense	probably damaging	1.00
R0511:Dnajb8	UTSW	6	88,199,467 (GRCm39)	start codon destroyed	probably null	0.98
R0762:Dnajb8	UTSW	6	88,200,036 (GRCm39)	missense	probably damaging	1.00
R2519:Dnajb8	UTSW	6	88,199,857 (GRCm39)	missense	probably benign
R5861:Dnajb8	UTSW	6	88,200,088 (GRCm39)	missense	possibly damaging	0.80
R5946:Dnajb8	UTSW	6	88,199,575 (GRCm39)	missense	probably benign	0.37
R6575:Dnajb8	UTSW	6	88,200,057 (GRCm39)	missense	probably damaging	1.00
R6767:Dnajb8	UTSW	6	88,199,634 (GRCm39)	missense	probably damaging	0.97
R6814:Dnajb8	UTSW	6	88,200,022 (GRCm39)	missense	probably damaging	1.00
R8189:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8190:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8191:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8192:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8193:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8210:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8219:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8221:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8224:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R8225:Dnajb8	UTSW	6	88,199,940 (GRCm39)	missense	possibly damaging	0.87
R9244:Dnajb8	UTSW	6	88,199,884 (GRCm39)	missense	probably damaging	1.00
Z1088:Dnajb8	UTSW	6	88,199,827 (GRCm39)	missense	probably benign
Z1176:Dnajb8	UTSW	6	88,199,892 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ATTCTGGGACACTCCGTTCAG -3'
(R):5'- GACTACTATGTCCCCTTGTGG -3'

Sequencing Primer
(F):5'- GCCCCATGGTTTACACAGAGTC -3'
(R):5'- CCCTTGTGGCCCCCTAG -3'

Posted On

2018-10-18