Mutagenetix > Incidental Mutation

Incidental Mutation 'R7594:Dnajb1'

587628

Institutional Source

Beutler Lab

Gene Symbol

Dnajb1

Ensembl Gene

ENSMUSG00000005483

Gene Name

DnaJ heat shock protein family (Hsp40) member B1

Synonyms

Hsp40, 0610007I11Rik

MMRRC Submission

045670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7594 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84334822-84339282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84336473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 81 (S81N)

Ref Sequence

ENSEMBL: ENSMUSP00000005620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005620] [ENSMUST00000212300]

AlphaFold

Q9QYJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000005620
AA Change: S81N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005620
Gene: ENSMUSG00000005483
AA Change: S81N

Domain	Start	End	E-Value	Type
DnaJ	3	60	1.07e-31	SMART
low complexity region	68	91	N/A	INTRINSIC
low complexity region	136	147	N/A	INTRINSIC
Pfam:DnaJ_C	164	323	3e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212300

Meta Mutation Damage Score

0.0681

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. The encoded protein may also inhibit apoptosis. Peritoneal macrophages derived from homozygous knockout mice for this gene exhibit impaired heat tolerance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile, and overtly normal; however, homozygous null peritoneal macrophages display impaired thermotolerance in the early (but not in the late) phase after mild heat treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Acsm3	A	G	7: 119,384,213 (GRCm39)		probably null	Het
Acvr2a	T	A	2: 48,784,749 (GRCm39)	L345*	probably null	Het
App	T	C	16: 84,876,890 (GRCm39)	D167G	unknown	Het
Arhgef33	A	G	17: 80,677,734 (GRCm39)	D427G	probably damaging	Het
Arid2	T	C	15: 96,288,875 (GRCm39)	S1675P	probably damaging	Het
Atp8a1	T	C	5: 67,808,935 (GRCm39)	Y985C		Het
AW209491	A	G	13: 14,811,831 (GRCm39)	D228G	probably benign	Het
Casc3	G	A	11: 98,712,311 (GRCm39)	A117T	probably benign	Het
Cass4	C	T	2: 172,271,568 (GRCm39)	P645S	probably benign	Het
Ccar2	A	T	14: 70,379,243 (GRCm39)	Y553*	probably null	Het
Cox16	A	T	12: 81,521,352 (GRCm39)		probably null	Het
Cpeb3	A	T	19: 37,151,551 (GRCm39)	V275E	possibly damaging	Het
Dido1	A	G	2: 180,316,905 (GRCm39)	V634A	probably benign	Het
Dst	A	G	1: 34,252,094 (GRCm39)	K2262E	probably damaging	Het
Eya3	T	C	4: 132,422,136 (GRCm39)	V237A	probably benign	Het
Fbxo31	T	A	8: 122,279,107 (GRCm39)	D460V	probably damaging	Het
Fcgbpl1	T	C	7: 27,830,885 (GRCm39)	C33R	probably damaging	Het
Gabrg3	A	T	7: 56,632,443 (GRCm39)	N168K	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm10134	T	C	2: 28,396,372 (GRCm39)	M89T	unknown	Het
Kif17	T	C	4: 138,005,236 (GRCm39)	L267P	probably damaging	Het
Ksr2	C	A	5: 117,693,131 (GRCm39)	T193N	possibly damaging	Het
Lmtk2	T	C	5: 144,110,564 (GRCm39)	L428P	probably damaging	Het
Mdn1	G	T	4: 32,696,359 (GRCm39)	L1247F	probably benign	Het
Med24	T	C	11: 98,605,923 (GRCm39)	Y323C	probably damaging	Het
Mthfd2	A	G	6: 83,283,665 (GRCm39)	V339A	probably benign	Het
Mtus2	G	T	5: 148,014,216 (GRCm39)	R336S	probably benign	Het
Muc16	T	C	9: 18,556,358 (GRCm39)	T3312A	unknown	Het
Nacad	A	G	11: 6,552,457 (GRCm39)	S245P	probably damaging	Het
Nacc1	T	C	8: 85,401,631 (GRCm39)	D394G	probably damaging	Het
Nfatc2	A	G	2: 168,365,268 (GRCm39)	V582A	probably damaging	Het
Nid2	T	A	14: 19,818,791 (GRCm39)	D428E	probably benign	Het
Or10ag57	A	G	2: 87,218,613 (GRCm39)	H188R	probably damaging	Het
Or4a80	T	A	2: 89,582,906 (GRCm39)	T89S	probably benign	Het
Or56a4	A	G	7: 104,806,880 (GRCm39)	L3S	probably benign	Het
Osbpl5	A	T	7: 143,247,534 (GRCm39)	L768Q	probably benign	Het
Plch2	C	T	4: 155,091,484 (GRCm39)	V210I	probably damaging	Het
Plekhh1	C	T	12: 79,123,277 (GRCm39)	T1153I	possibly damaging	Het
Ppp1r14c	T	C	10: 3,316,670 (GRCm39)	S2P	possibly damaging	Het
Pramel26	A	T	4: 143,539,286 (GRCm39)	I69N	probably damaging	Het
Psmd5	G	T	2: 34,750,741 (GRCm39)	H239Q	probably benign	Het
Ptcd2	C	A	13: 99,456,790 (GRCm39)	A345S	possibly damaging	Het
Sap30l	G	A	11: 57,700,947 (GRCm39)		probably null	Het
Sec14l2	A	G	11: 4,061,213 (GRCm39)	Y83H	probably damaging	Het
Slc2a9	A	G	5: 38,508,634 (GRCm39)	I470T	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Syne1	A	G	10: 5,165,190 (GRCm39)		probably null	Het
Tg	T	A	15: 66,601,432 (GRCm39)	D1766E	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tlr6	T	C	5: 65,110,594 (GRCm39)	Y771C	probably damaging	Het
Tnrc6b	T	A	15: 80,764,508 (GRCm39)	V670E	possibly damaging	Het
Top2b	A	G	14: 16,428,587 (GRCm38)	T1522A	probably benign	Het
Tpcn1	A	G	5: 120,694,595 (GRCm39)	M158T	possibly damaging	Het
Ttn	T	C	2: 76,557,186 (GRCm39)	I29940V	probably benign	Het
Ttn	G	A	2: 76,581,698 (GRCm39)	T23065I	probably damaging	Het
Umodl1	A	G	17: 31,173,779 (GRCm39)	S20G	probably benign	Het
Uts2r	G	T	11: 121,052,191 (GRCm39)	V352F	possibly damaging	Het
Vmn1r67	T	A	7: 10,181,342 (GRCm39)	M202K	possibly damaging	Het
Vmn2r107	T	C	17: 20,580,635 (GRCm39)	V524A	probably benign	Het
Zc3h12d	C	A	10: 7,738,382 (GRCm39)	D229E	probably damaging	Het
Zfp541	A	G	7: 15,810,311 (GRCm39)	D116G	probably damaging	Het
Zfp971	A	G	2: 177,675,793 (GRCm39)	E464G	possibly damaging	Het

Other mutations in Dnajb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03143:Dnajb1	APN	8	84,335,103 (GRCm39)	missense	probably damaging	0.99
R2381:Dnajb1	UTSW	8	84,336,971 (GRCm39)	missense	possibly damaging	0.95
R5027:Dnajb1	UTSW	8	84,336,732 (GRCm39)	missense	probably benign	0.00
R5379:Dnajb1	UTSW	8	84,335,135 (GRCm39)	missense	possibly damaging	0.87
R7014:Dnajb1	UTSW	8	84,336,884 (GRCm39)	missense	probably damaging	1.00
R7243:Dnajb1	UTSW	8	84,337,393 (GRCm39)	missense	probably damaging	0.99
R7386:Dnajb1	UTSW	8	84,336,932 (GRCm39)	missense	probably benign	0.24
R7733:Dnajb1	UTSW	8	84,335,006 (GRCm39)	missense	probably benign	0.11
R7852:Dnajb1	UTSW	8	84,336,834 (GRCm39)	missense	probably benign	0.00
R8145:Dnajb1	UTSW	8	84,336,944 (GRCm39)	missense	probably damaging	1.00
R9101:Dnajb1	UTSW	8	84,335,119 (GRCm39)	missense	probably benign
R9461:Dnajb1	UTSW	8	84,335,173 (GRCm39)	critical splice donor site	probably null
R9466:Dnajb1	UTSW	8	84,337,384 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTTACGTGGCATTGACAG -3'
(R):5'- CAAAGTTCATGTTGGTGAAGCC -3'

Sequencing Primer
(F):5'- TCTGGAACTTGCAGAGATCAGTC -3'
(R):5'- GTGAAGCCACCCATACCCATTG -3'

Posted On

2019-10-24