Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:Dnajb2'

276971

Institutional Source

Beutler Lab

Gene Symbol

Dnajb2

Ensembl Gene

ENSMUSG00000026203

Gene Name

DnaJ heat shock protein family (Hsp40) member B2

Synonyms

mDj8, 2700059H22Rik, Dnajb10

MMRRC Submission

040779-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75236406-75245692 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 75241480 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055223] [ENSMUST00000082158] [ENSMUST00000185403] [ENSMUST00000185654] [ENSMUST00000187058] [ENSMUST00000188290] [ENSMUST00000188346] [ENSMUST00000188931]

Predicted Effect

probably null
Transcript: ENSMUST00000055223

SMART Domains

Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.46e-29	SMART
low complexity region	67	78	N/A	INTRINSIC
low complexity region	119	148	N/A	INTRINSIC
UIM	189	208	3.05e1	SMART
UIM	232	251	5.19e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000082158

SMART Domains

Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	2.1e-30	SMART
low complexity region	85	96	N/A	INTRINSIC
low complexity region	137	166	N/A	INTRINSIC
UIM	207	226	3.05e1	SMART
UIM	250	269	5.19e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185403

SMART Domains

Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	2.8e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185654

SMART Domains

Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.3e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186600

Predicted Effect

probably null
Transcript: ENSMUST00000187058

SMART Domains

Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.46e-29	SMART
low complexity region	67	78	N/A	INTRINSIC
low complexity region	119	148	N/A	INTRINSIC
UIM	189	208	3.05e1	SMART
UIM	232	251	5.19e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188290

SMART Domains

Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	2.1e-30	SMART
low complexity region	85	96	N/A	INTRINSIC
low complexity region	137	166	N/A	INTRINSIC
UIM	207	226	3.05e1	SMART
UIM	250	269	5.19e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188346

SMART Domains

Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	2.1e-30	SMART
low complexity region	85	96	N/A	INTRINSIC
low complexity region	137	166	N/A	INTRINSIC
UIM	207	226	3.05e1	SMART
UIM	250	269	5.19e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188628

Predicted Effect

probably null
Transcript: ENSMUST00000188931

SMART Domains

Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203

Domain	Start	End	E-Value	Type
DnaJ	2	61	2.1e-30	SMART
low complexity region	85	96	N/A	INTRINSIC
low complexity region	137	166	N/A	INTRINSIC
UIM	207	226	3.05e1	SMART
UIM	250	269	5.19e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190379

Predicted Effect

probably benign
Transcript: ENSMUST00000190445

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
F13a1	A	T	13: 37,047,424	N21K	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	Het

Other mutations in Dnajb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Dnajb2	APN	1	75236890	missense	probably damaging	1.00
R0494:Dnajb2	UTSW	1	75239634	unclassified	probably benign
R2118:Dnajb2	UTSW	1	75237477	missense	probably damaging	1.00
R3837:Dnajb2	UTSW	1	75241480	critical splice donor site	probably null
R3839:Dnajb2	UTSW	1	75241480	critical splice donor site	probably null
R4105:Dnajb2	UTSW	1	75236899	nonsense	probably null
R4108:Dnajb2	UTSW	1	75236899	nonsense	probably null
R4858:Dnajb2	UTSW	1	75243554	missense	possibly damaging	0.96
R7115:Dnajb2	UTSW	1	75243662	missense
R7960:Dnajb2	UTSW	1	75241411	missense
R8248:Dnajb2	UTSW	1	75243582	missense
R8512:Dnajb2	UTSW	1	75241431	missense
R8537:Dnajb2	UTSW	1	75239598	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCACCACCTTTGTCCAAG -3'
(R):5'- ACAGGTACATTAATGGGCTCATGG -3'

Sequencing Primer
(F):5'- GCAGGTGAGCTCTCCTTCTG -3'
(R):5'- TAAAGTGCAGGCTCTCAGGC -3'

Posted On

2015-04-06