Incidental Mutation 'R6981:Dusp12'
ID 542648
Institutional Source Beutler Lab
Gene Symbol Dusp12
Ensembl Gene ENSMUSG00000026659
Gene Name dual specificity phosphatase 12
Synonyms T-DSP4, LMW-DSP4, VH1, 1190004O14Rik, ESTM36, mVH1
MMRRC Submission 045089-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6981 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 170701756-170713109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170708530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 12 (F12L)
Ref Sequence ENSEMBL: ENSMUSP00000129530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027970] [ENSMUST00000046476] [ENSMUST00000163252] [ENSMUST00000170420] [ENSMUST00000172042] [ENSMUST00000180542]
AlphaFold Q9D0T2
Predicted Effect probably benign
Transcript: ENSMUST00000027970
AA Change: F137L

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: F137L

DomainStartEndE-ValueType
DSPc 26 167 1.23e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046476
AA Change: F137L

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000044320
Gene: ENSMUSG00000026659
AA Change: F137L

DomainStartEndE-ValueType
DSPc 26 157 5.96e-20 SMART
Predicted Effect unknown
Transcript: ENSMUST00000163252
AA Change: L137P
SMART Domains Protein: ENSMUSP00000126676
Gene: ENSMUSG00000026659
AA Change: L137P

DomainStartEndE-ValueType
Pfam:DSPc 30 115 2e-8 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000166393
AA Change: L137P
SMART Domains Protein: ENSMUSP00000130507
Gene: ENSMUSG00000026659
AA Change: L137P

DomainStartEndE-ValueType
Pfam:DSPc 31 121 8.5e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000170420
AA Change: L141P
SMART Domains Protein: ENSMUSP00000129515
Gene: ENSMUSG00000026659
AA Change: L141P

DomainStartEndE-ValueType
PTPc_DSPc 26 136 4e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000171447
AA Change: F67L
SMART Domains Protein: ENSMUSP00000130683
Gene: ENSMUSG00000026659
AA Change: F67L

DomainStartEndE-ValueType
Pfam:DSPc 3 98 6.9e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172042
AA Change: F12L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000180542
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.7%
Validation Efficiency 99% (68/69)
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 is 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 product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G A 11: 58,184,544 (GRCm39) probably benign Het
5031439G07Rik A C 15: 84,833,798 (GRCm39) Y419* probably null Het
Abca2 T A 2: 25,334,151 (GRCm39) F1809L probably damaging Het
Ache C T 5: 137,289,940 (GRCm39) T423I probably benign Het
Acvrl1 A G 15: 101,036,226 (GRCm39) T395A probably damaging Het
Ap3b2 A G 7: 81,127,741 (GRCm39) I145T probably damaging Het
Arhgef4 A C 1: 34,761,533 (GRCm39) Q263P unknown Het
Asgr2 C T 11: 69,987,636 (GRCm39) L45F probably damaging Het
Baiap2l1 T A 5: 144,222,389 (GRCm39) Y122F possibly damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Car8 A T 4: 8,185,650 (GRCm39) probably null Het
Carns1 T C 19: 4,220,081 (GRCm39) T385A probably benign Het
Ccdc47 T C 11: 106,093,563 (GRCm39) T41A probably benign Het
Ccne1 A T 7: 37,797,998 (GRCm39) probably benign Het
Cdh4 C T 2: 179,439,297 (GRCm39) T148I probably benign Het
Cep85 C T 4: 133,879,572 (GRCm39) R392Q probably damaging Het
Ces1h T C 8: 94,080,123 (GRCm39) T464A unknown Het
Cfl1 T A 19: 5,542,644 (GRCm39) S41R possibly damaging Het
Crnn T C 3: 93,055,442 (GRCm39) V76A probably damaging Het
Cspg4 A G 9: 56,794,385 (GRCm39) T707A probably benign Het
Dgkh A T 14: 78,865,182 (GRCm39) C53* probably null Het
Dhx34 G T 7: 15,949,255 (GRCm39) A391E possibly damaging Het
Dlx1 C A 2: 71,362,697 (GRCm39) N201K probably benign Het
Dnah6 T C 6: 72,998,161 (GRCm39) E4087G probably benign Het
Dock6 T C 9: 21,756,846 (GRCm39) Y134C probably damaging Het
Duox2 A G 2: 122,121,708 (GRCm39) V662A possibly damaging Het
Eppk1 T C 15: 75,995,237 (GRCm39) E548G probably benign Het
Foxj2 A G 6: 122,819,798 (GRCm39) D562G probably benign Het
Foxj2 A G 6: 122,805,403 (GRCm39) I92V probably damaging Het
Gm17728 A G 17: 9,640,991 (GRCm39) R34G probably damaging Het
Gpc6 T C 14: 117,861,960 (GRCm39) I292T probably damaging Het
Gpr15 T A 16: 58,538,548 (GRCm39) K180N probably benign Het
Gtf2ird1 G T 5: 134,412,776 (GRCm39) probably benign Het
H2ac12 A G 13: 22,219,719 (GRCm39) S2P probably benign Het
Hps3 T A 3: 20,076,984 (GRCm39) T393S probably damaging Het
Hspa1a A T 17: 35,189,267 (GRCm39) probably null Het
Hydin A G 8: 111,257,704 (GRCm39) E2378G possibly damaging Het
Ighv1-18 A G 12: 114,646,298 (GRCm39) L102P probably damaging Het
Itga5 T A 15: 103,258,653 (GRCm39) N814I probably benign Het
Kcnb2 T C 1: 15,780,480 (GRCm39) S451P probably damaging Het
Klhl32 T G 4: 24,709,030 (GRCm39) I112L probably damaging Het
Knstrn T G 2: 118,664,575 (GRCm39) I47R possibly damaging Het
Med23 T A 10: 24,771,722 (GRCm39) S581T possibly damaging Het
Mgat5 C T 1: 127,318,588 (GRCm39) T361I probably damaging Het
Nipal3 A G 4: 135,206,858 (GRCm39) V112A probably damaging Het
Or10a5 T A 7: 106,635,956 (GRCm39) V198D possibly damaging Het
Or2b2 A G 13: 21,887,243 (GRCm39) E24G probably benign Het
Or4k41 T C 2: 111,279,697 (GRCm39) F71L probably benign Het
Or5g27 A G 2: 85,409,825 (GRCm39) M81V probably benign Het
Paxip1 G A 5: 27,970,766 (GRCm39) Q528* probably null Het
Proser2 T C 2: 6,118,801 (GRCm39) D14G probably damaging Het
Rp1 T G 1: 4,415,878 (GRCm39) I1745L probably benign Het
Rxfp2 G T 5: 149,972,313 (GRCm39) probably null Het
Slc45a1 T C 4: 150,723,051 (GRCm39) S278G possibly damaging Het
Smurf1 A G 5: 144,823,179 (GRCm39) I455T possibly damaging Het
Speg T C 1: 75,407,557 (GRCm39) L3188P probably damaging Het
Tcaf3 G T 6: 42,574,059 (GRCm39) A51D probably damaging Het
Tecrl T C 5: 83,502,768 (GRCm39) N12S possibly damaging Het
Tmem17 T A 11: 22,468,508 (GRCm39) I149N possibly damaging Het
Tmem171 A G 13: 98,828,976 (GRCm39) V58A possibly damaging Het
Ttn A G 2: 76,691,521 (GRCm39) probably benign Het
Ubqln5 A G 7: 103,777,808 (GRCm39) S339P probably benign Het
Vmn1r16 T A 6: 57,300,473 (GRCm39) I50L probably benign Het
Vmn2r103 A T 17: 20,013,739 (GRCm39) Y177F probably benign Het
Zfp28 C A 7: 6,397,692 (GRCm39) T709K probably damaging Het
Zfp958 A G 8: 4,676,170 (GRCm39) N46S probably benign Het
Zyx T A 6: 42,327,291 (GRCm39) V30E unknown Het
Other mutations in Dusp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Dusp12 APN 1 170,702,042 (GRCm39) missense probably damaging 1.00
IGL02718:Dusp12 APN 1 170,708,226 (GRCm39) missense probably damaging 1.00
P0028:Dusp12 UTSW 1 170,707,386 (GRCm39) nonsense probably null
R0040:Dusp12 UTSW 1 170,708,226 (GRCm39) missense probably damaging 1.00
R0040:Dusp12 UTSW 1 170,708,226 (GRCm39) missense probably damaging 1.00
R1114:Dusp12 UTSW 1 170,708,586 (GRCm39) missense probably damaging 1.00
R1833:Dusp12 UTSW 1 170,702,022 (GRCm39) missense probably benign
R1850:Dusp12 UTSW 1 170,708,198 (GRCm39) missense probably benign 0.12
R2138:Dusp12 UTSW 1 170,708,166 (GRCm39) nonsense probably null
R2260:Dusp12 UTSW 1 170,708,580 (GRCm39) missense probably damaging 1.00
R3972:Dusp12 UTSW 1 170,707,344 (GRCm39) missense probably damaging 0.98
R4298:Dusp12 UTSW 1 170,708,198 (GRCm39) missense probably benign 0.12
R4803:Dusp12 UTSW 1 170,708,175 (GRCm39) missense possibly damaging 0.51
R6639:Dusp12 UTSW 1 170,708,243 (GRCm39) missense probably damaging 1.00
R6674:Dusp12 UTSW 1 170,707,317 (GRCm39) missense probably benign 0.13
R7432:Dusp12 UTSW 1 170,707,345 (GRCm39) nonsense probably null
R7861:Dusp12 UTSW 1 170,702,095 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGGCCAATGGAAGTGCAGG -3'
(R):5'- ACTTTACCATTAGCAGGCAGC -3'

Sequencing Primer
(F):5'- GTGCAGGGACACACACC -3'
(R):5'- TCTGGACTCACTGTGTAGACCAG -3'
Posted On 2018-11-28