Mutagenetix > Incidental Mutation

Incidental Mutation 'R1235:Dnajb3'

152398

Institutional Source

Beutler Lab

Gene Symbol

Dnajb3

Ensembl Gene

ENSMUSG00000081984

Gene Name

DnaJ heat shock protein family (Hsp40) member B3

Synonyms

Msj1, Hsj3, MSJ-1

MMRRC Submission

039303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1235 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

88132454-88133470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88133201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 67 (R67H)

Ref Sequence

ENSEMBL: ENSMUSP00000112703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000119972] [ENSMUST00000113142] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000138182] [ENSMUST00000113139] [ENSMUST00000126203] [ENSMUST00000150634] [ENSMUST00000173325] [ENSMUST00000140092]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000014263

SMART Domains

Protein: ENSMUSP00000014263
Gene: ENSMUSG00000054545

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049289

SMART Domains

Protein: ENSMUSP00000037258
Gene: ENSMUSG00000090171

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
Pfam:UDPGT	28	524	2.2e-247	PFAM
Pfam:Glyco_tran_28_C	363	452	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058237

SMART Domains

Protein: ENSMUSP00000058683
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	522	1.5e-234	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073772

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	519	2.3e-232	PFAM
Pfam:Glyco_tran_28_C	358	447	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097659

SMART Domains

Protein: ENSMUSP00000095263
Gene: ENSMUSG00000089943

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:UDPGT	25	520	6.7e-246	PFAM
Pfam:Glyco_tran_28_C	359	448	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113134

SMART Domains

Protein: ENSMUSP00000108759
Gene: ENSMUSG00000054545

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	2.7e-232	PFAM
Pfam:Glyco_tran_28_C	361	450	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113135

SMART Domains

Protein: ENSMUSP00000108760
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.2e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119972
AA Change: R67H

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112703
Gene: ENSMUSG00000081984
AA Change: R67H

Domain	Start	End	E-Value	Type
DnaJ	2	61	6.22e-33	SMART
low complexity region	69	81	N/A	INTRINSIC
low complexity region	104	119	N/A	INTRINSIC
low complexity region	126	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173165

Predicted Effect

probably benign
Transcript: ENSMUST00000113142

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	7.3e-231	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113137

SMART Domains

Protein: ENSMUSP00000108762
Gene: ENSMUSG00000090145

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	1.3e-231	PFAM
Pfam:Glyco_tran_28_C	361	450	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113138

SMART Domains

Protein: ENSMUSP00000108763
Gene: ENSMUSG00000090145

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UDPGT	27	522	7.3e-229	PFAM
Pfam:Glyco_tran_28_C	363	448	6.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138182

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	7e-11	PFAM
Pfam:UDPGT	58	207	1.9e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113139

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	3.6e-237	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126203

SMART Domains

Protein: ENSMUSP00000116653
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	4.6e-11	PFAM
Pfam:UDPGT	59	127	8.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150634

SMART Domains

Protein: ENSMUSP00000123452
Gene: ENSMUSG00000090124

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	9.5e-11	PFAM
Pfam:UDPGT	58	207	2e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173325

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	61	3.4e-10	PFAM
Pfam:UDPGT	59	210	8.9e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140092

SMART Domains

Protein: ENSMUSP00000115642
Gene: ENSMUSG00000054545

Domain	Start	End	E-Value	Type
Pfam:UDPGT	1	166	9.3e-98	PFAM
Pfam:Glyco_tran_28_C	96	166	4.9e-9	PFAM

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsg	T	C	11: 109,424,933 (GRCm39)		probably null	Het
Col6a1	C	A	10: 76,548,158 (GRCm39)	A633S	unknown	Het
Fam53c	T	A	18: 34,901,311 (GRCm39)	L76Q	probably damaging	Het
Gys2	A	T	6: 142,376,019 (GRCm39)	Y548N	probably damaging	Het
Kcnh3	T	A	15: 99,139,984 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,354,380 (GRCm39)	V483I	probably damaging	Het
Myom3	A	T	4: 135,516,854 (GRCm39)	Y808F	probably benign	Het
Nmur1	C	T	1: 86,314,415 (GRCm39)	G307S	probably damaging	Het
Or8w1	T	G	2: 87,465,159 (GRCm39)		probably null	Het
Pcdhb13	T	C	18: 37,578,012 (GRCm39)	*797Q	probably null	Het
Plcb4	G	A	2: 135,814,868 (GRCm39)	G719R	probably damaging	Het
Pld1	A	T	3: 28,082,883 (GRCm39)	T143S	probably benign	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Sema5a	A	T	15: 32,609,372 (GRCm39)	Y426F	probably benign	Het
Trpc7	G	T	13: 57,035,352 (GRCm39)	H194N	probably damaging	Het
Vmn2r106	A	T	17: 20,499,741 (GRCm39)	F165I	probably benign	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zp2	A	T	7: 119,737,566 (GRCm39)	F240I	possibly damaging	Het

Other mutations in Dnajb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02473:Dnajb3	APN	1	88,133,104 (GRCm39)	missense	probably benign	0.00
IGL02489:Dnajb3	APN	1	88,133,032 (GRCm39)	missense	probably benign	0.37
IGL02726:Dnajb3	APN	1	88,133,372 (GRCm39)	missense	probably damaging	1.00
IGL02733:Dnajb3	APN	1	88,132,662 (GRCm39)	intron	probably benign
IGL02867:Dnajb3	APN	1	88,133,249 (GRCm39)	missense	probably benign	0.43
R3154:Dnajb3	UTSW	1	88,132,773 (GRCm39)	missense	probably benign	0.22
R4232:Dnajb3	UTSW	1	88,132,974 (GRCm39)	missense	possibly damaging	0.75
R4718:Dnajb3	UTSW	1	88,133,061 (GRCm39)	missense	probably benign	0.13
R5033:Dnajb3	UTSW	1	88,132,745 (GRCm39)	missense	possibly damaging	0.94
R6393:Dnajb3	UTSW	1	88,133,384 (GRCm39)	missense	possibly damaging	0.64
R6980:Dnajb3	UTSW	1	88,132,736 (GRCm39)	missense	probably damaging	1.00
R7789:Dnajb3	UTSW	1	88,133,399 (GRCm39)	start codon destroyed	probably null	1.00
R8961:Dnajb3	UTSW	1	88,132,998 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGTTTCCTGGAGAACCGAAGGATG -3'
(R):5'- ATGGTGGACTACTACGAGGTGCTG -3'

Sequencing Primer
(F):5'- GTGAATCCAGTATCTAACGAAGC -3'
(R):5'- GCAAGCTTGCGCTCAAGT -3'

Posted On

2014-01-29