Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Dnajb2'

640352

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

067675-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75213050-75222336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75220226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 248 (D248E)

Ref Sequence

ENSEMBL: ENSMUSP00000140566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027404] [ENSMUST00000055223] [ENSMUST00000082158] [ENSMUST00000185403] [ENSMUST00000185654] [ENSMUST00000187058] [ENSMUST00000188290] [ENSMUST00000188931] [ENSMUST00000188346]

AlphaFold

Q9QYI5

Predicted Effect

probably benign
Transcript: ENSMUST00000027404

SMART Domains

Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
RESP18	63	164	1.5e-51	SMART
low complexity region	174	201	N/A	INTRINSIC
low complexity region	217	235	N/A	INTRINSIC
low complexity region	360	368	N/A	INTRINSIC
Pfam:Receptor_IA-2	471	559	7e-33	PFAM
transmembrane domain	579	601	N/A	INTRINSIC
low complexity region	650	679	N/A	INTRINSIC
PTPc	710	973	1.2e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000055223
AA Change: D230E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: D230E

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 benign
Transcript: ENSMUST00000082158
AA Change: D248E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: D248E

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 benign
Transcript: ENSMUST00000187058
AA Change: D230E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: D230E

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 benign
Transcript: ENSMUST00000188290
AA Change: D248E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: D248E

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: D248E

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: ENSMUST00000188346
AA Change: D248E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: D248E

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: 99.1%

Validation Efficiency

100% (60/60)

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
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Itsn2	T	C	12: 4,712,052 (GRCm39)	V913A	probably benign	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,960,586 (GRCm39)	T773I	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Nudt7	A	G	8: 114,878,737 (GRCm39)	Y255C	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,326,038 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Syn3	T	A	10: 85,970,885 (GRCm39)	I246F	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Usp17le	G	T	7: 104,419,001 (GRCm39)	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	possibly damaging	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
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'- TTACTGGGTAAGGTGGTCCC -3'
(R):5'- GGTTCTCAGAGAATGTGGCAGC -3'

Sequencing Primer
(F):5'- TAAGGTGGTCCCGCATGAG -3'
(R):5'- AGGCCTTCTCCTCTGAGGAC -3'

Posted On

2020-07-28