Mutagenetix > Incidental Mutation

Incidental Mutation 'R2118:Dnajb2'

231156

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

040122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2118 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75213050-75222336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75214121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 30 (W30R)

Ref Sequence

ENSEMBL: ENSMUSP00000140637 (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: W30R

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

SMART Domains

Protein: ENSMUSP00000052520
Gene: ENSMUSG00000026203
AA Change: W30R

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: W30R

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

SMART Domains

Protein: ENSMUSP00000080796
Gene: ENSMUSG00000026203
AA Change: W30R

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: ENSMUST00000185403
AA Change: W30R

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

SMART Domains

Protein: ENSMUSP00000139982
Gene: ENSMUSG00000026203
AA Change: W30R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185654
AA Change: W30R

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140456
Gene: ENSMUSG00000026203
AA Change: W30R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186600

Predicted Effect

probably damaging
Transcript: ENSMUST00000187058
AA Change: W30R

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

SMART Domains

Protein: ENSMUSP00000140637
Gene: ENSMUSG00000026203
AA Change: W30R

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: W30R

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

SMART Domains

Protein: ENSMUSP00000140634
Gene: ENSMUSG00000026203
AA Change: W30R

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: W30R

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

SMART Domains

Protein: ENSMUSP00000140588
Gene: ENSMUSG00000026203
AA Change: W30R

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: ENSMUST00000188931
AA Change: W30R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140566
Gene: ENSMUSG00000026203
AA Change: W30R

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

Meta Mutation Damage Score

0.8878

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (90/90)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	T	C	11: 83,331,190 (GRCm39)	S31P	possibly damaging	Het
4933430I17Rik	T	A	4: 62,457,109 (GRCm39)	L143M	possibly damaging	Het
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Abcg5	T	A	17: 84,978,575 (GRCm39)	E294D	probably benign	Het
Abi3bp	T	C	16: 56,298,227 (GRCm39)		probably benign	Het
Adamts8	T	C	9: 30,854,359 (GRCm39)	F76S	probably damaging	Het
Agpat3	T	C	10: 78,113,918 (GRCm39)	R257G	probably damaging	Het
Ahctf1	C	A	1: 179,597,017 (GRCm39)	R43L	probably damaging	Het
AI593442	T	C	9: 52,588,993 (GRCm39)	T195A	probably benign	Het
Aipl1	A	T	11: 71,920,195 (GRCm39)	L291Q	possibly damaging	Het
Ambn	T	A	5: 88,608,617 (GRCm39)		probably benign	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Arg1	T	C	10: 24,796,621 (GRCm39)	N69D	possibly damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Arhgef38	T	C	3: 132,866,514 (GRCm39)	K208E	probably benign	Het
Asb4	A	T	6: 5,390,687 (GRCm39)	T27S	probably benign	Het
Ash1l	C	G	3: 88,892,602 (GRCm39)	Q1494E	possibly damaging	Het
Car12	T	C	9: 66,621,174 (GRCm39)	V15A	probably benign	Het
Cdc20b	A	G	13: 113,215,232 (GRCm39)	I267V	probably benign	Het
Cdh1	A	G	8: 107,390,842 (GRCm39)	I653V	probably benign	Het
Cenpe	T	A	3: 134,952,645 (GRCm39)	M1445K	possibly damaging	Het
Cfap43	T	C	19: 47,758,877 (GRCm39)	E932G	probably damaging	Het
Cfhr1	G	C	1: 139,478,642 (GRCm39)	Q243E	probably benign	Het
Cnih2	C	A	19: 5,148,276 (GRCm39)	A6S	possibly damaging	Het
Cntnap1	G	T	11: 101,079,483 (GRCm39)	M1240I	probably benign	Het
Cntrl	T	C	2: 35,051,977 (GRCm39)	S1050P	probably benign	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dbx2	A	C	15: 95,522,681 (GRCm39)	L342R	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Ednrb	T	A	14: 104,059,204 (GRCm39)	D274V	probably benign	Het
Fam78b	G	A	1: 166,906,278 (GRCm39)	V146M	probably damaging	Het
Fancd2	A	G	6: 113,537,035 (GRCm39)		probably benign	Het
Fbxw14	T	C	9: 109,103,692 (GRCm39)		probably benign	Het
Gimap4	G	T	6: 48,667,905 (GRCm39)	C92F	probably benign	Het
Gm10033	A	C	8: 69,824,942 (GRCm39)		noncoding transcript	Het
Gm5828	A	G	1: 16,840,199 (GRCm39)		noncoding transcript	Het
Gnpat	T	C	8: 125,603,680 (GRCm39)	V186A	probably damaging	Het
Gnptab	T	C	10: 88,272,260 (GRCm39)	S967P	probably benign	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Il1rap	A	T	16: 26,529,315 (GRCm39)	H379L	probably damaging	Het
Ints12	T	C	3: 132,814,921 (GRCm39)	V376A	probably damaging	Het
Kalrn	C	T	16: 34,152,600 (GRCm39)	S309N	possibly damaging	Het
Kel	T	A	6: 41,666,234 (GRCm39)	I471L	probably benign	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Ksr1	A	T	11: 78,936,019 (GRCm39)	M77K	probably benign	Het
Leo1	T	A	9: 75,353,094 (GRCm39)	N212K	probably damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Mast4	A	G	13: 102,890,713 (GRCm39)	V855A	probably damaging	Het
Mdga2	T	A	12: 66,915,526 (GRCm39)	E43V	probably damaging	Het
Mmaa	A	T	8: 79,994,588 (GRCm39)	L406*	probably null	Het
Mtcl2	T	C	2: 156,875,245 (GRCm39)	E835G	probably damaging	Het
Nlrp12	A	T	7: 3,290,079 (GRCm39)	N144K	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or4f61	C	A	2: 111,922,675 (GRCm39)	V124L	probably benign	Het
Or5h18	A	G	16: 58,848,178 (GRCm39)	F31L	possibly damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pappa2	T	C	1: 158,684,836 (GRCm39)	T768A	probably damaging	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Ppp1r13l	A	G	7: 19,105,346 (GRCm39)	M373V	possibly damaging	Het
Prss37	G	A	6: 40,492,294 (GRCm39)	R186*	probably null	Het
Psg16	C	A	7: 16,824,548 (GRCm39)	H111N	probably benign	Het
Psg20	T	A	7: 18,414,947 (GRCm39)	Y316F	probably benign	Het
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Rai14	A	G	15: 10,575,252 (GRCm39)	F569L	probably benign	Het
Rbpms2	T	A	9: 65,558,229 (GRCm39)	D116E	probably damaging	Het
Rgs20	A	G	1: 4,987,113 (GRCm39)		probably benign	Het
Rnf114	T	C	2: 167,352,803 (GRCm39)	L101P	probably damaging	Het
Rnf168	T	G	16: 32,097,036 (GRCm39)	L37R	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sap18	T	A	14: 58,036,011 (GRCm39)	S66T	probably damaging	Het
Slc2a13	A	G	15: 91,400,679 (GRCm39)	V181A	probably damaging	Het
Spag17	A	G	3: 99,956,556 (GRCm39)	E884G	possibly damaging	Het
Sycn	T	C	7: 28,240,713 (GRCm39)	S127P	probably damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r117	T	A	6: 132,780,129 (GRCm39)	I89K	probably damaging	Het
Tep1	C	A	14: 51,093,029 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,410,569 (GRCm39)		probably benign	Het
Tll1	T	C	8: 64,538,591 (GRCm39)	E351G	probably benign	Het
Tmem44	T	A	16: 30,366,262 (GRCm39)	K55*	probably null	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Vmn1r200	C	T	13: 22,579,353 (GRCm39)	T43I	probably damaging	Het
Wars2	T	C	3: 99,123,883 (GRCm39)	V248A	probably benign	Het
Wfdc6b	C	T	2: 164,459,363 (GRCm39)	R142C	probably benign	Het
Zfp729a	A	T	13: 67,769,613 (GRCm39)		probably null	Het
Zfp759	C	A	13: 67,287,578 (GRCm39)		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
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
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'- GCTTATGGCAGGGACTTTCC -3'
(R):5'- TGCTCTTCAGACCCTGCTAG -3'

Sequencing Primer
(F):5'- ATGGCAGGGACTTTCCTTTTTAC -3'
(R):5'- CATGGAGGCGATTAAACACTATC -3'

Posted On

2014-09-18