Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01020:Dusp3'

53889

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dusp3

Ensembl Gene

ENSMUSG00000003518

Gene Name

dual specificity phosphatase 3 (vaccinia virus phosphatase VH1-related)

Synonyms

2210015O03Rik, 5031436O03Rik, VHR, T-DSP11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01020

Quality Score

Status

Chromosome

Chromosomal Location

101861969-101877839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101875470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 31 (N31K)

Ref Sequence

ENSEMBL: ENSMUSP00000135443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003612] [ENSMUST00000010985] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000143177] [ENSMUST00000151678] [ENSMUST00000176261] [ENSMUST00000176722] [ENSMUST00000175972]

AlphaFold

Q9D7X3

Predicted Effect

probably benign
Transcript: ENSMUST00000003612
AA Change: N31K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
AA Change: N31K

Domain	Start	End	E-Value	Type
DSPc	29	176	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000010985

SMART Domains

Protein: ENSMUSP00000010985
Gene: ENSMUSG00000010841

Domain	Start	End	E-Value	Type
Pfam:KIAA1430	35	130	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107172
AA Change: N31K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
AA Change: N31K

Domain	Start	End	E-Value	Type
DSPc	29	176	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107173
AA Change: N56K

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
AA Change: N56K

Domain	Start	End	E-Value	Type
DSPc	54	201	8.04e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125794

Predicted Effect

probably benign
Transcript: ENSMUST00000143177
AA Change: N31K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135821
Gene: ENSMUSG00000003518
AA Change: N31K

Domain	Start	End	E-Value	Type
PDB:1J4X\|A	2	55	1e-22	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000151678

SMART Domains

Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518

Domain	Start	End	E-Value	Type
DSPc	3	108	6.99e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176261
AA Change: N31K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135443
Gene: ENSMUSG00000003518
AA Change: N31K

Domain	Start	End	E-Value	Type
Pfam:DSPc	37	126	1.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176722

SMART Domains

Protein: ENSMUSP00000134890
Gene: ENSMUSG00000010841

Domain	Start	End	E-Value	Type
Pfam:KIAA1430	1	80	4.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175972

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 gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased hemoglobin content and angiogenesis in Matrigel plugs and aortic explants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	T	G	1: 176,958,533 (GRCm39)		probably benign	Het
Aldh18a1	C	T	19: 40,557,625 (GRCm39)		probably benign	Het
Arhgap32	A	G	9: 32,168,657 (GRCm39)	H880R	probably benign	Het
Arhgef7	G	A	8: 11,832,540 (GRCm39)	S5N	probably damaging	Het
Atp6v1e1	T	C	6: 120,785,372 (GRCm39)	M40V	possibly damaging	Het
Atr	T	C	9: 95,744,836 (GRCm39)	V51A	probably damaging	Het
Atxn10	A	G	15: 85,259,623 (GRCm39)		probably null	Het
Btbd16	T	A	7: 130,426,091 (GRCm39)	I502N	probably damaging	Het
Celsr2	G	T	3: 108,310,586 (GRCm39)	L1499M	probably damaging	Het
Cfl1	C	T	19: 5,543,709 (GRCm39)		probably benign	Het
Cul9	T	C	17: 46,849,949 (GRCm39)	E500G	probably damaging	Het
Erbb4	A	T	1: 68,337,608 (GRCm39)		probably benign	Het
Fam234b	G	A	6: 135,188,904 (GRCm39)	V170M	probably benign	Het
Fign	A	G	2: 63,809,354 (GRCm39)	S639P	probably damaging	Het
Gbp7	A	G	3: 142,248,618 (GRCm39)	T294A	probably benign	Het
Golm2	G	A	2: 121,756,203 (GRCm39)	V411I	probably benign	Het
Ift80	C	T	3: 68,871,012 (GRCm39)	D195N	probably damaging	Het
Kif21b	G	T	1: 136,081,832 (GRCm39)		probably benign	Het
Kif2c	A	T	4: 117,024,101 (GRCm39)	F397I	probably damaging	Het
Lamc3	T	C	2: 31,804,668 (GRCm39)	V567A	probably benign	Het
Letmd1	T	C	15: 100,369,640 (GRCm39)	M36T	probably damaging	Het
Lrp1b	A	G	2: 40,888,259 (GRCm39)	W2220R	probably damaging	Het
Mical2	T	A	7: 111,914,283 (GRCm39)		probably benign	Het
Mtif2	A	G	11: 29,494,973 (GRCm39)	D691G	possibly damaging	Het
Myh8	G	A	11: 67,174,229 (GRCm39)	V189M	probably damaging	Het
Myo9b	G	A	8: 71,804,644 (GRCm39)	R1418K	probably benign	Het
Nkpd1	G	A	7: 19,252,674 (GRCm39)	V7M	possibly damaging	Het
Nrxn2	G	A	19: 6,543,473 (GRCm39)	V1116I	probably benign	Het
Nynrin	A	G	14: 56,105,905 (GRCm39)	M875V	probably benign	Het
Oat	T	C	7: 132,168,902 (GRCm39)		probably null	Het
Or7g35	G	A	9: 19,496,616 (GRCm39)	S261N	possibly damaging	Het
Or8g24	A	C	9: 38,989,747 (GRCm39)	I98R	probably damaging	Het
Prkaa2	C	T	4: 104,932,659 (GRCm39)	R63Q	probably damaging	Het
Psg29	T	A	7: 16,942,657 (GRCm39)	S219R	probably benign	Het
Ptprc	T	C	1: 138,047,911 (GRCm39)		probably null	Het
Pwwp2b	G	T	7: 138,834,771 (GRCm39)	E71*	probably null	Het
Robo2	T	C	16: 73,725,039 (GRCm39)	T1055A	probably benign	Het
Serpina9	T	A	12: 103,974,845 (GRCm39)	N103Y	probably damaging	Het
Sis	T	C	3: 72,874,171 (GRCm39)	E10G	probably damaging	Het
Tbck	C	T	3: 132,432,903 (GRCm39)	Q438*	probably null	Het
Thnsl1	T	C	2: 21,217,305 (GRCm39)	L353S	probably damaging	Het
Tmem237	C	A	1: 59,146,612 (GRCm39)		probably null	Het
Tuba3a	C	T	6: 125,258,303 (GRCm39)	R229H	probably damaging	Het
Zbtb2	A	G	10: 4,319,702 (GRCm39)	I108T	probably benign	Het
Zfp345	T	C	2: 150,314,967 (GRCm39)	N190S	possibly damaging	Het

Other mutations in Dusp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0189:Dusp3	UTSW	11	101,872,547 (GRCm39)	missense	probably damaging	1.00
R0751:Dusp3	UTSW	11	101,872,554 (GRCm39)	missense	probably benign	0.00
R1771:Dusp3	UTSW	11	101,875,561 (GRCm39)	start codon destroyed	probably null	0.95
R2220:Dusp3	UTSW	11	101,865,631 (GRCm39)	missense	probably damaging	1.00
R2762:Dusp3	UTSW	11	101,865,661 (GRCm39)	missense	probably benign	0.00
R4591:Dusp3	UTSW	11	101,864,446 (GRCm39)	utr 3 prime	probably benign
R5373:Dusp3	UTSW	11	101,875,451 (GRCm39)	missense	possibly damaging	0.69
R5374:Dusp3	UTSW	11	101,875,451 (GRCm39)	missense	possibly damaging	0.69
R6119:Dusp3	UTSW	11	101,871,495 (GRCm39)	unclassified	probably benign
R6318:Dusp3	UTSW	11	101,877,697 (GRCm39)	missense	probably benign	0.32
R6495:Dusp3	UTSW	11	101,872,653 (GRCm39)	missense	probably benign	0.00
R8785:Dusp3	UTSW	11	101,872,560 (GRCm39)	missense	probably benign	0.00
R9550:Dusp3	UTSW	11	101,872,668 (GRCm39)	missense	probably benign	0.01
X0020:Dusp3	UTSW	11	101,865,604 (GRCm39)	missense	probably benign	0.16

Posted On

2013-06-28