Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02867:Dnajb3'

362375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dnajb3

Ensembl Gene

ENSMUSG00000081984

Gene Name

DnaJ heat shock protein family (Hsp40) member B3

Synonyms

Msj1, Hsj3, MSJ-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02867

Quality Score

Status

Chromosome

Chromosomal Location

88132454-88133470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88133249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 51 (Q51L)

Ref Sequence

ENSEMBL: ENSMUSP00000112703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014263] [ENSMUST00000049289] [ENSMUST00000058237] [ENSMUST00000073772] [ENSMUST00000097659] [ENSMUST00000113134] [ENSMUST00000113135] [ENSMUST00000119972] [ENSMUST00000113142] [ENSMUST00000113137] [ENSMUST00000113138] [ENSMUST00000126203] [ENSMUST00000138182] [ENSMUST00000113139] [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: Q51L

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112703
Gene: ENSMUSG00000081984
AA Change: Q51L

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: ENSMUST00000173165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124852

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: 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: 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: 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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	A	5: 24,776,149 (GRCm39)	Y310F	probably benign	Het
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arel1	A	T	12: 84,981,097 (GRCm39)	N303K	probably benign	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Ccdc125	A	T	13: 100,820,790 (GRCm39)		probably benign	Het
Cxcl16	A	T	11: 70,349,892 (GRCm39)	Y45N	possibly damaging	Het
Ear10	A	G	14: 44,160,726 (GRCm39)	F34L	probably damaging	Het
Fgf11	A	G	11: 69,690,498 (GRCm39)	S100P	possibly damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Fyb1	A	T	15: 6,609,527 (GRCm39)	Q33H	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Krt16	T	C	11: 100,138,402 (GRCm39)	K249E	probably damaging	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Naa35	T	C	13: 59,756,668 (GRCm39)		probably benign	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or1e22	A	G	11: 73,376,817 (GRCm39)	Y278H	probably damaging	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Osbpl6	A	G	2: 76,426,214 (GRCm39)		probably benign	Het
Pramel6	A	T	2: 87,340,736 (GRCm39)	Q356L	probably damaging	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Psme1	A	G	14: 55,817,383 (GRCm39)		probably benign	Het
Rdh11	A	G	12: 79,235,828 (GRCm39)	V40A	possibly damaging	Het
Rin1	C	T	19: 5,103,198 (GRCm39)	R485C	probably damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Spata24	C	A	18: 35,789,805 (GRCm39)	R194L	probably benign	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tas1r1	A	T	4: 152,112,735 (GRCm39)	S773T	probably damaging	Het
Trdv5	G	T	14: 54,386,429 (GRCm39)		probably benign	Het
Trpc3	A	C	3: 36,694,850 (GRCm39)	D701E	probably benign	Het
Vim	A	G	2: 13,585,491 (GRCm39)	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,283,649 (GRCm39)	T111P	probably damaging	Het
Zbtb26	A	C	2: 37,326,261 (GRCm39)	N247K	probably benign	Het
Zfp629	T	G	7: 127,209,203 (GRCm39)		probably benign	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
R1235:Dnajb3	UTSW	1	88,133,201 (GRCm39)	missense	probably benign	0.03
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

Posted On

2015-12-18