Incidental Mutation 'R6119:Dusp3'
ID 485675
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 044429-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6119 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101861969-101877839 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 101871495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003612] [ENSMUST00000107172] [ENSMUST00000107173] [ENSMUST00000143177] [ENSMUST00000151678] [ENSMUST00000176261] [ENSMUST00000175972] [ENSMUST00000176722]
AlphaFold Q9D7X3
Predicted Effect probably benign
Transcript: ENSMUST00000003612
SMART Domains Protein: ENSMUSP00000003612
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107172
SMART Domains Protein: ENSMUSP00000102790
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 29 176 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107173
SMART Domains Protein: ENSMUSP00000102791
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 54 201 8.04e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125794
Predicted Effect probably benign
Transcript: ENSMUST00000143177
SMART Domains Protein: ENSMUSP00000135821
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
PDB:1J4X|A 2 55 1e-22 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151678
SMART Domains Protein: ENSMUSP00000135384
Gene: ENSMUSG00000003518

DomainStartEndE-ValueType
DSPc 3 108 6.99e-26 SMART
Predicted Effect unknown
Transcript: ENSMUST00000176261
AA Change: S136P
SMART Domains Protein: ENSMUSP00000135443
Gene: ENSMUSG00000003518
AA Change: S136P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:KIAA1430 1 80 4.8e-22 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Ip6k3 A G 17: 27,367,599 (GRCm39) V199A possibly damaging Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging Het
Other mutations in Dusp3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTTCAGAAATGCCCAGTCACTGAG -3'
(R):5'- GCTGAATGAGAGCTGGCTAGTG -3'

Sequencing Primer
(F):5'- TGCCCAGTCACTGAGCTAGTTAAG -3'
(R):5'- TGGCTAGTGGTCAGACAGGAC -3'
Posted On 2017-08-16