Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Dnajb7'

10242

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajb7

Ensembl Gene

ENSMUSG00000047108

Gene Name

DnaJ heat shock protein family (Hsp40) member B7

Synonyms

4933424H20Rik, mDj5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

81291289-81292474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81291774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 188 (I188F)

Ref Sequence

ENSEMBL: ENSMUSP00000100712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041609] [ENSMUST00000057236] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000167799]

AlphaFold

Q9QYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000041609

SMART Domains

Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	366	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057236
AA Change: I188F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100712
Gene: ENSMUSG00000047108
AA Change: I188F

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.49e-30	SMART
low complexity region	123	141	N/A	INTRINSIC
low complexity region	244	262	N/A	INTRINSIC
low complexity region	288	312	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163296

Predicted Effect

probably benign
Transcript: ENSMUST00000163754

SMART Domains

Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	481	1.1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164144

Predicted Effect

probably benign
Transcript: ENSMUST00000165258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167799

SMART Domains

Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	203	6.87e-50	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,158,324 (GRCm39)	L41P	probably damaging	Het
Baz1b	A	G	5: 135,268,886 (GRCm39)	Y1245C	probably damaging	Het
Dpf1	A	T	7: 29,012,333 (GRCm39)	K18*	probably null	Het
Drosha	T	A	15: 12,834,045 (GRCm39)	Y50N	unknown	Het
Eif2s1	T	A	12: 78,931,611 (GRCm39)		probably benign	Het
Gde1	T	C	7: 118,297,925 (GRCm39)	E97G	probably damaging	Het
Lrrc8c	G	A	5: 105,754,980 (GRCm39)	V252M	probably damaging	Het
Megf10	G	A	18: 57,425,782 (GRCm39)	R1056Q	probably benign	Het
Myo3b	A	C	2: 69,935,989 (GRCm39)		probably benign	Het
Ralbp1	T	C	17: 66,171,718 (GRCm39)	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,175,116 (GRCm39)	M58I	possibly damaging	Het
Skor1	C	A	9: 63,046,820 (GRCm39)	Q892H	probably damaging	Het
Slc22a26	T	C	19: 7,767,527 (GRCm39)	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,013,901 (GRCm39)	E90G	possibly damaging	Het
Zmym2	T	C	14: 57,140,668 (GRCm39)	V169A	probably benign	Het

Other mutations in Dnajb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Dnajb7	APN	15	81,291,692 (GRCm39)	missense	possibly damaging	0.46
R0116:Dnajb7	UTSW	15	81,291,555 (GRCm39)	missense	probably benign	0.00
R1460:Dnajb7	UTSW	15	81,291,888 (GRCm39)	missense	probably benign	0.00
R1517:Dnajb7	UTSW	15	81,291,657 (GRCm39)	missense	probably damaging	0.98
R5354:Dnajb7	UTSW	15	81,292,208 (GRCm39)	missense	probably damaging	1.00
R6053:Dnajb7	UTSW	15	81,291,500 (GRCm39)	missense	probably benign	0.04
R6581:Dnajb7	UTSW	15	81,292,226 (GRCm39)	missense	probably damaging	1.00
R7407:Dnajb7	UTSW	15	81,291,827 (GRCm39)	missense	possibly damaging	0.92
R7665:Dnajb7	UTSW	15	81,291,620 (GRCm39)	missense	probably benign	0.00
R8158:Dnajb7	UTSW	15	81,291,600 (GRCm39)	missense	probably damaging	0.98
R9263:Dnajb7	UTSW	15	81,292,266 (GRCm39)	missense	probably benign	0.26

Posted On

2012-12-06