Mutagenetix > Incidental Mutation

Incidental Mutation 'R7733:Dnajb1'

595998

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

045789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7733 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84334822-84339282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84335006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 16 (S16A)

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: S16A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000005620
Gene: ENSMUSG00000005483
AA Change: S16A

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

0.1097

Coding Region Coverage

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

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	T	A	6: 133,271,240 (GRCm39)	S95T	probably benign	Het
Abca8a	A	G	11: 109,945,413 (GRCm39)	F1070L	probably benign	Het
Acsl3	G	C	1: 78,665,953 (GRCm39)		probably null	Het
Adarb2	T	A	13: 8,802,644 (GRCm39)	S640T	possibly damaging	Het
Adgre5	T	C	8: 84,456,025 (GRCm39)	D257G	probably benign	Het
Adora2b	A	T	11: 62,156,165 (GRCm39)	I205F	possibly damaging	Het
Asb14	A	G	14: 26,634,309 (GRCm39)	M505V	probably benign	Het
Atrnl1	T	C	19: 57,690,420 (GRCm39)	V876A	probably benign	Het
AU040320	A	G	4: 126,729,322 (GRCm39)	N495D	possibly damaging	Het
Bcam	A	T	7: 19,494,313 (GRCm39)	V361E	probably benign	Het
Ccdc7a	T	A	8: 129,719,533 (GRCm39)	E247V	probably damaging	Het
Cd84	T	A	1: 171,668,226 (GRCm39)	M1K	probably null	Het
Cfap43	C	T	19: 47,886,432 (GRCm39)	R61H	possibly damaging	Het
Clec4a1	A	G	6: 122,909,109 (GRCm39)	D159G	possibly damaging	Het
Ctcfl	C	T	2: 172,958,985 (GRCm39)	R247Q	probably benign	Het
Ctdnep1	G	A	11: 69,880,835 (GRCm39)	R236Q	probably damaging	Het
Cwf19l2	A	T	9: 3,450,066 (GRCm39)	H589L	probably benign	Het
Cyp2u1	G	T	3: 131,096,676 (GRCm39)	A34E	probably benign	Het
Cyp4x1	A	G	4: 114,977,391 (GRCm39)	S281P	possibly damaging	Het
Dag1	T	C	9: 108,086,047 (GRCm39)	T365A	probably benign	Het
Dhx57	A	T	17: 80,572,503 (GRCm39)		probably null	Het
Dsc2	A	T	18: 20,181,372 (GRCm39)	L145Q	probably benign	Het
Dsc2	G	C	18: 20,181,373 (GRCm39)	L145V	probably benign	Het
Eefsec	T	C	6: 88,353,202 (GRCm39)	T156A	possibly damaging	Het
Eif6	T	A	2: 155,665,152 (GRCm39)	D169V	probably benign	Het
Ell3	C	A	2: 121,273,001 (GRCm39)	G3V	possibly damaging	Het
Eprs1	A	T	1: 185,129,358 (GRCm39)	H615L	probably benign	Het
Fbxw10	A	G	11: 62,764,223 (GRCm39)	Y630C	unknown	Het
Fcgbpl1	A	T	7: 27,839,390 (GRCm39)	D401V	probably damaging	Het
G6pc2	C	T	2: 69,050,527 (GRCm39)	Q51*	probably null	Het
Glt8d1	C	T	14: 30,723,935 (GRCm39)		probably benign	Het
Gpr4	T	C	7: 18,956,635 (GRCm39)	Y186H	probably damaging	Het
Grhpr	T	C	4: 44,981,494 (GRCm39)		probably benign	Het
Gsdma3	A	G	11: 98,526,041 (GRCm39)	H264R	probably damaging	Het
Hcfc2	A	G	10: 82,575,013 (GRCm39)	Y224C	probably benign	Het
Helz2	A	G	2: 180,872,148 (GRCm39)	F2608S	possibly damaging	Het
Herc2	C	T	7: 55,838,412 (GRCm39)	T3313M	probably damaging	Het
Hmgcl	A	T	4: 135,687,394 (GRCm39)	H223L	probably benign	Het
Igf2r	A	G	17: 12,958,256 (GRCm39)	V139A	possibly damaging	Het
Iqcn	A	G	8: 71,170,100 (GRCm39)	T1397A	possibly damaging	Het
Kif5a	T	A	10: 127,072,609 (GRCm39)	T727S	probably benign	Het
Kifc1	G	A	17: 34,102,543 (GRCm39)	R357W	probably damaging	Het
Krt81	T	A	15: 101,361,395 (GRCm39)	S62C	probably damaging	Het
Lgi2	T	C	5: 52,695,873 (GRCm39)	N362S	probably benign	Het
Lig1	G	T	7: 13,030,157 (GRCm39)	R378L	possibly damaging	Het
Map3k13	C	T	16: 21,740,436 (GRCm39)	R588C	probably damaging	Het
Mov10l1	T	A	15: 88,909,004 (GRCm39)	F1008L	probably damaging	Het
Nr4a2	A	G	2: 57,002,333 (GRCm39)	V40A	probably benign	Het
Nrde2	A	T	12: 100,110,399 (GRCm39)	C206S	possibly damaging	Het
Or4f14d	C	T	2: 111,960,386 (GRCm39)	V257I	probably benign	Het
Parp1	T	C	1: 180,427,777 (GRCm39)		probably null	Het
Pcdhb12	A	G	18: 37,570,089 (GRCm39)	T412A	probably damaging	Het
Plekhh2	T	A	17: 84,890,952 (GRCm39)	Y839*	probably null	Het
Pnpla6	T	A	8: 3,572,660 (GRCm39)	F316I	probably benign	Het
Prcp	C	T	7: 92,550,506 (GRCm39)	T101M	probably damaging	Het
Prex2	G	T	1: 11,252,183 (GRCm39)	R1076L	probably benign	Het
Prpf40b	T	C	15: 99,206,224 (GRCm39)		probably null	Het
Psd3	T	G	8: 68,573,568 (GRCm39)	K204N	possibly damaging	Het
Ptpro	C	A	6: 137,391,284 (GRCm39)	C801*	probably null	Het
Ptprt	A	G	2: 161,417,707 (GRCm39)	V923A	probably damaging	Het
Ptprz1	T	A	6: 23,000,383 (GRCm39)	D824E	probably benign	Het
Rasgrf1	A	G	9: 89,863,780 (GRCm39)	D582G	probably benign	Het
Rfc2	T	C	5: 134,622,070 (GRCm39)	L183P	probably damaging	Het
Rnf114	T	C	2: 167,354,438 (GRCm39)	V173A	probably damaging	Het
Scn3a	T	A	2: 65,338,994 (GRCm39)	I562F	probably benign	Het
Setmar	T	C	6: 108,053,088 (GRCm39)	I194T	probably damaging	Het
Sptb	A	T	12: 76,644,695 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Sptlc3	G	T	2: 139,473,288 (GRCm39)	M512I	possibly damaging	Het
Svep1	C	A	4: 58,049,239 (GRCm39)	A3423S	probably benign	Het
Sycp1	T	C	3: 102,803,278 (GRCm39)	T511A	probably benign	Het
Synm	T	A	7: 67,385,693 (GRCm39)		probably null	Het
Tada1	C	T	1: 166,217,511 (GRCm39)	P216L	probably damaging	Het
Tas2r117	T	A	6: 132,780,138 (GRCm39)	M92K	probably benign	Het
Thoc2l	T	C	5: 104,667,826 (GRCm39)	F783L	possibly damaging	Het
Thsd1	T	C	8: 22,748,737 (GRCm39)	L536P	probably damaging	Het
Timp2	T	G	11: 118,208,355 (GRCm39)		probably null	Het
Trak1	T	A	9: 121,196,291 (GRCm39)	V41D	possibly damaging	Het
Ubqln3	T	A	7: 103,790,283 (GRCm39)	L602F	probably damaging	Het
Vmn2r59	A	G	7: 41,661,443 (GRCm39)	F791L	probably benign	Het
Wbp4	A	G	14: 79,714,480 (GRCm39)		probably null	Het
Zng1	T	C	19: 24,918,158 (GRCm39)	D204G	probably 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
R7594:Dnajb1	UTSW	8	84,336,473 (GRCm39)	missense	probably benign
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'- ATTGGCTGGATCCGCTACG -3'
(R):5'- GGTTTCCCCGCCTGTCAAAC -3'

Sequencing Primer
(F):5'- AGCGATTGGCCGGTGTC -3'
(R):5'- TGTCAAACGGCGGGTCAC -3'

Posted On

2019-11-12