Mutagenetix > Incidental Mutation

Incidental Mutation 'R4108:Dnajb2'

321444

Institutional Source

Beutler Lab

Gene Symbol

Dnajb2

Ensembl Gene

ENSMUSG00000026203

Gene Name

DnaJ heat shock protein family (Hsp40) member B2

Synonyms

mDj8, Dnajb10, 2700059H22Rik

MMRRC Submission

040987-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75213050-75222336 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 75213543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 6 (E6*)

Ref Sequence

ENSEMBL: ENSMUSP00000140566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055223] [ENSMUST00000082158] [ENSMUST00000180101] [ENSMUST00000185403] [ENSMUST00000185654] [ENSMUST00000187058] [ENSMUST00000188290] [ENSMUST00000188346] [ENSMUST00000188931] [ENSMUST00000191271]

AlphaFold

Q9QYI5

Predicted Effect

probably null
Transcript: ENSMUST00000055223
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: E6*

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
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: E6*

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: ENSMUST00000180101

Predicted Effect

probably null
Transcript: ENSMUST00000185403
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203
AA Change: E6*

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

Predicted Effect

probably null
Transcript: ENSMUST00000185654
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203
AA Change: E6*

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
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: E6*

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
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: E6*

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
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: E6*

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: ENSMUST00000188931
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: E6*

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

noncoding transcript
Transcript: ENSMUST00000188628

Predicted Effect

probably benign
Transcript: ENSMUST00000190445

Predicted Effect

probably benign
Transcript: ENSMUST00000191271

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (65/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,061,796 (GRCm39)	Y82C	probably damaging	Het
4930579F01Rik	T	C	3: 137,889,431 (GRCm39)	N62S	probably benign	Het
Acad10	G	T	5: 121,769,527 (GRCm39)	S643Y	probably damaging	Het
Acox3	T	C	5: 35,758,896 (GRCm39)	F369S	probably damaging	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Atp4b	A	G	8: 13,446,640 (GRCm39)		probably null	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Caskin1	C	A	17: 24,721,121 (GRCm39)	T487K	probably benign	Het
Ccr7	C	T	11: 99,036,204 (GRCm39)	M239I	probably damaging	Het
Cdh23	C	A	10: 60,246,601 (GRCm39)	V944L	possibly damaging	Het
Cenpf	A	G	1: 189,416,065 (GRCm39)	S87P	probably damaging	Het
Chd9	A	T	8: 91,737,304 (GRCm39)	D1461V	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,353,136 (GRCm39)	M102K	probably damaging	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dtx4	G	A	19: 12,478,487 (GRCm39)	A32V	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Eml6	A	C	11: 29,755,136 (GRCm39)	S880A	probably damaging	Het
Fsd2	C	T	7: 81,194,715 (GRCm39)	V483I	probably benign	Het
Inf2	T	C	12: 112,574,015 (GRCm39)	L773P	unknown	Het
Kif26b	A	G	1: 178,744,530 (GRCm39)	Q1095R	possibly damaging	Het
Leprotl1	A	G	8: 34,607,913 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 40,555,099 (GRCm39)	V340A	unknown	Het
Myh1	T	C	11: 67,102,403 (GRCm39)	V898A	probably benign	Het
Ncstn	G	T	1: 171,900,111 (GRCm39)	N254K	probably damaging	Het
Nfatc1	T	A	18: 80,741,583 (GRCm39)	H139L	possibly damaging	Het
Nfe2l1	C	T	11: 96,710,220 (GRCm39)		probably null	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2b6	A	G	13: 21,822,952 (GRCm39)	V247A	probably damaging	Het
Or7g26	T	A	9: 19,230,608 (GRCm39)	Y265*	probably null	Het
Otogl	C	T	10: 107,607,105 (GRCm39)	V2093I	probably benign	Het
Phc2	A	G	4: 128,601,776 (GRCm39)	Y77C	probably damaging	Het
Pik3c2g	C	A	6: 139,676,096 (GRCm39)	A80E	probably benign	Het
Plxnd1	G	T	6: 115,936,276 (GRCm39)	H1675N	probably damaging	Het
Pou4f3	A	G	18: 42,528,987 (GRCm39)	K310R	probably damaging	Het
Ppp1r12c	T	C	7: 4,489,565 (GRCm39)	D199G	probably damaging	Het
Prss22	A	G	17: 24,212,847 (GRCm39)	Y297H	probably benign	Het
Psmb7	T	A	2: 38,532,211 (GRCm39)	H78L	probably damaging	Het
Rad51ap2	T	C	12: 11,508,396 (GRCm39)	C773R	probably damaging	Het
Rpl12	A	T	2: 32,851,836 (GRCm39)	N8Y	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sbf1	T	C	15: 89,172,788 (GRCm39)		probably benign	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Setd1a	G	A	7: 127,398,374 (GRCm39)		probably benign	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slc34a2	G	A	5: 53,221,351 (GRCm39)	V266I	possibly damaging	Het
Smtn	G	A	11: 3,476,449 (GRCm39)	T144I	probably benign	Het
Spta1	A	G	1: 174,002,122 (GRCm39)	N84S	probably benign	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Supt16	T	C	14: 52,400,188 (GRCm39)	E985G	probably damaging	Het
Tbcd	T	A	11: 121,384,637 (GRCm39)	H39Q	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Tsg101	T	A	7: 46,542,242 (GRCm39)	D99V	probably damaging	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het
Ubald1	C	A	16: 4,693,731 (GRCm39)	M61I	probably benign	Het
Ush1c	C	T	7: 45,847,869 (GRCm39)	D465N	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vps54	A	G	11: 21,262,877 (GRCm39)	I655V	probably benign	Het

Other mutations in Dnajb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Dnajb2	APN	1	75,213,534 (GRCm39)	missense	probably damaging	1.00
R0494:Dnajb2	UTSW	1	75,216,278 (GRCm39)	unclassified	probably benign
R2118:Dnajb2	UTSW	1	75,214,121 (GRCm39)	missense	probably damaging	1.00
R3837:Dnajb2	UTSW	1	75,218,124 (GRCm39)	critical splice donor site	probably null
R3838:Dnajb2	UTSW	1	75,218,124 (GRCm39)	critical splice donor site	probably null
R3839:Dnajb2	UTSW	1	75,218,124 (GRCm39)	critical splice donor site	probably null
R4105:Dnajb2	UTSW	1	75,213,543 (GRCm39)	nonsense	probably null
R4858:Dnajb2	UTSW	1	75,220,198 (GRCm39)	missense	possibly damaging	0.96
R7115:Dnajb2	UTSW	1	75,220,306 (GRCm39)	missense
R7960:Dnajb2	UTSW	1	75,218,055 (GRCm39)	missense
R8248:Dnajb2	UTSW	1	75,220,226 (GRCm39)	missense
R8512:Dnajb2	UTSW	1	75,218,075 (GRCm39)	missense
R8537:Dnajb2	UTSW	1	75,216,242 (GRCm39)	missense	probably damaging	1.00
R9066:Dnajb2	UTSW	1	75,217,874 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GGGTTCAGATCGGGTTACTAGAC -3'
(R):5'- GCTGGACTTGGTCTTCGTAC -3'

Sequencing Primer
(F):5'- CAGATCGGGTTACTAGACTTAGG -3'
(R):5'- GGTCTTCGTACTTTCCCAAGGG -3'

Posted On

2015-06-12