Mutagenetix > Incidental Mutation

Incidental Mutation 'R8512:Dnajb2'

655913

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

067846-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8512 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75213050-75222336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75218075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 191 (R191W)

Ref Sequence

ENSEMBL: ENSMUSP00000140566 (fasta)

Gene Model

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

AlphaFold

Q9QYI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000055223
AA Change: R173W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: R173W

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 damaging
Transcript: ENSMUST00000082158
AA Change: R191W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: R191W

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

probably damaging
Transcript: ENSMUST00000187058
AA Change: R173W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: R173W

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 damaging
Transcript: ENSMUST00000188290
AA Change: R191W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: R191W

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 damaging
Transcript: ENSMUST00000188346
AA Change: R191W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: R191W

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

SMART Domains

Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: R191W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 56,125,760 (GRCm39)		probably null	Het
Akap13	T	C	7: 75,260,834 (GRCm39)	S350P	probably damaging	Het
Celsr2	A	G	3: 108,321,154 (GRCm39)	F553L	probably damaging	Het
Ces3a	A	T	8: 105,784,661 (GRCm39)	T548S	probably benign	Het
Chtf8	G	A	8: 107,612,066 (GRCm39)	T291I	probably benign	Het
Ckmt1	A	T	2: 121,191,689 (GRCm39)	R286S	probably damaging	Het
Dtnbp1	G	T	13: 45,075,867 (GRCm39)	A292E	probably benign	Het
Esrrg	T	G	1: 187,775,777 (GRCm39)	Y101*	probably null	Het
Etaa1	G	A	11: 17,897,442 (GRCm39)	S225L	probably damaging	Het
Evi5l	A	G	8: 4,243,121 (GRCm39)	Y335C	probably benign	Het
Fcho2	T	C	13: 98,891,730 (GRCm39)	D344G	possibly damaging	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gsdmc2	C	T	15: 63,706,864 (GRCm39)	V101I	probably null	Het
Gsdmc4	A	G	15: 63,763,808 (GRCm39)	C430R	probably damaging	Het
Irak4	A	C	15: 94,464,659 (GRCm39)	I410L	probably benign	Het
Kirrel1	A	G	3: 86,995,534 (GRCm39)	V436A	probably benign	Het
Lrrc30	T	A	17: 67,938,947 (GRCm39)	Q211L	probably damaging	Het
Map4k1	C	T	7: 28,695,583 (GRCm39)	H512Y	possibly damaging	Het
Matn3	T	A	12: 9,011,183 (GRCm39)	S365T	probably benign	Het
Msantd2	T	C	9: 37,434,231 (GRCm39)	I358T	possibly damaging	Het
Msantd5	T	A	11: 51,125,487 (GRCm39)	S137T	probably benign	Het
Msx3	G	T	7: 139,628,884 (GRCm39)	A10E	probably benign	Het
Muc16	T	C	9: 18,549,488 (GRCm39)	T5602A	probably benign	Het
Myh2	T	C	11: 67,081,187 (GRCm39)	S1268P	probably benign	Het
Mynn	C	T	3: 30,670,798 (GRCm39)	P557S	probably damaging	Het
Naglu	T	C	11: 100,961,168 (GRCm39)	V73A	probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Or10al3	T	A	17: 38,012,071 (GRCm39)	F170Y	probably damaging	Het
Or6c75	T	A	10: 129,337,496 (GRCm39)	S240T	probably damaging	Het
P2rx3	C	T	2: 84,854,755 (GRCm39)	E100K	probably damaging	Het
Pnisr	C	T	4: 21,870,372 (GRCm39)	Q375*	probably null	Het
Psmb9	C	T	17: 34,402,602 (GRCm39)	C126Y	probably benign	Het
Ptprt	A	G	2: 161,400,783 (GRCm39)	F1085L	probably benign	Het
Rev3l	A	G	10: 39,697,534 (GRCm39)	Y677C	probably damaging	Het
Rftn2	G	A	1: 55,253,324 (GRCm39)	P93L	probably damaging	Het
Rtl1	T	A	12: 109,561,051 (GRCm39)	M263L	unknown	Het
Sec24c	T	C	14: 20,740,920 (GRCm39)	V722A	possibly damaging	Het
Slc2a7	T	C	4: 150,247,752 (GRCm39)	L384P	probably benign	Het
Slc6a11	T	C	6: 114,215,402 (GRCm39)	L434P	probably damaging	Het
Sptb	T	C	12: 76,648,826 (GRCm39)	E1869G	possibly damaging	Het
Susd2	G	A	10: 75,475,485 (GRCm39)	T473I	probably benign	Het
Synpo	C	T	18: 60,735,483 (GRCm39)	R821H	probably damaging	Het
Tdrd9	G	A	12: 112,012,627 (GRCm39)	V1184I	probably benign	Het
Tle1	T	G	4: 72,040,670 (GRCm39)	K630Q	possibly damaging	Het
Traf3	A	T	12: 111,228,426 (GRCm39)	T546S	probably benign	Het
Ttc17	G	A	2: 94,202,108 (GRCm39)	T398M	probably damaging	Het
Ttn	G	C	2: 76,698,692 (GRCm39)	N136K		Het
Ttn	T	C	2: 76,747,111 (GRCm39)	E4646G	probably benign	Het
Xbp1	T	C	11: 5,474,266 (GRCm39)	S156P	probably damaging	Het
Yipf7	C	T	5: 69,674,387 (GRCm39)	V253I	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
R4108: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
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'- GTCCACCACCTTTGTCCAAG -3'
(R):5'- ACAGGTACATTAATGGGCTCATG -3'

Sequencing Primer
(F):5'- CTTTGTCCAAGGCCGCC -3'
(R):5'- CCTAGCATGTCTAAGGCTCTGG -3'

Posted On

2020-10-20