Mutagenetix > Incidental Mutation

Incidental Mutation 'R5373:Dusp3'

428884

Institutional Source

Beutler Lab

Gene Symbol

Dusp3

Ensembl Gene

ENSMUSG00000003518

Gene Name

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

Synonyms

2210015O03Rik, 5031436O03Rik, VHR, T-DSP11

MMRRC Submission

042949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101861969-101877839 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101875451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 38 (Y38H)

Ref Sequence

ENSEMBL: ENSMUSP00000135443 (fasta)

Gene Model

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

AlphaFold

Q9D7X3

Predicted Effect

probably benign
Transcript: ENSMUST00000003612
AA Change: Y38H

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518
AA Change: Y38H

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: Y38H

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518
AA Change: Y38H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107173
AA Change: Y63H

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518
AA Change: Y63H

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: Y38H

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135821
Gene: ENSMUSG00000003518
AA Change: Y38H

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

possibly damaging
Transcript: ENSMUST00000176261
AA Change: Y38H

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135443
Gene: ENSMUSG00000003518
AA Change: Y38H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175972

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

Meta Mutation Damage Score

0.3461

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (74/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Abcb5	G	T	12: 118,850,912 (GRCm39)	T887K	probably damaging	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Arpp21	T	G	9: 111,896,336 (GRCm39)	M687L	probably benign	Het
Camkv	T	C	9: 107,824,088 (GRCm39)	S221P	probably benign	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Chsy1	C	T	7: 65,759,824 (GRCm39)	Q56*	probably null	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dnajc6	T	C	4: 101,472,824 (GRCm39)	I317T	probably damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dtna	T	C	18: 23,784,670 (GRCm39)	Y730H	probably damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Eml2	A	T	7: 18,913,188 (GRCm39)	D62V	possibly damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Evc2	C	T	5: 37,535,554 (GRCm39)	R410W	probably damaging	Het
Fam169b	T	C	7: 67,950,586 (GRCm39)	Y13H	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Fezf2	A	T	14: 12,344,803 (GRCm38)	V128E	possibly damaging	Het
Ighv3-5	A	G	12: 114,226,573 (GRCm39)	S18P	probably damaging	Het
Kcnq5	T	A	1: 22,031,795 (GRCm39)	H4L	unknown	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Lig1	AG	A	7: 13,039,849 (GRCm39)		probably null	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Mtfr2	G	T	10: 20,228,598 (GRCm39)	C48F	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptpn14	T	C	1: 189,583,160 (GRCm39)	M669T	probably benign	Het
Ptprf	G	T	4: 118,083,238 (GRCm39)	T923K	possibly damaging	Het
Ptprg	A	G	14: 12,213,665 (GRCm38)	N1011S	probably benign	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Slc26a7	A	T	4: 14,546,447 (GRCm39)	I294N	probably damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Spata6	T	A	4: 111,680,031 (GRCm39)		probably null	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Susd5	G	A	9: 113,911,653 (GRCm39)	G188R	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Vmn1r85	A	T	7: 12,818,255 (GRCm39)	Y296*	probably null	Het
Vmn2r71	C	T	7: 85,267,750 (GRCm39)	T68I	possibly damaging	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp85	T	C	13: 67,897,577 (GRCm39)	Y165C	probably damaging	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Dusp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Dusp3	APN	11	101,875,470 (GRCm39)	missense	probably benign	0.37
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
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

Predicted Primers

PCR Primer
(F):5'- AGAACGTGGTAGCCTTGACC -3'
(R):5'- CCTTAGCCAGGGTGAATGAG -3'

Sequencing Primer
(F):5'- CTTCATGCGCGGGGAGTAG -3'
(R):5'- ACGGGAGTGATGGCATCTC -3'

Posted On

2016-09-06