Incidental Mutation 'R0040:Dusp12'
ID 216029
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 038334-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0040 (G1)
Quality Score 21
Status Validated
Chromosome 1
Chromosomal Location 170701756-170713109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 170708226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 164 (Y164H)
Ref Sequence ENSEMBL: ENSMUSP00000027970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027970] [ENSMUST00000046476] [ENSMUST00000163252] [ENSMUST00000170420] [ENSMUST00000180542] [ENSMUST00000172042]
AlphaFold Q9D0T2
Predicted Effect probably damaging
Transcript: ENSMUST00000027970
AA Change: Y164H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027970
Gene: ENSMUSG00000026659
AA Change: Y164H

DomainStartEndE-ValueType
DSPc 26 167 1.23e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046476
SMART Domains Protein: ENSMUSP00000044320
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
DSPc 26 157 5.96e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163252
SMART Domains Protein: ENSMUSP00000126676
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
Pfam:DSPc 30 115 2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166393
SMART Domains Protein: ENSMUSP00000130507
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
Pfam:DSPc 31 121 8.5e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170420
SMART Domains Protein: ENSMUSP00000129515
Gene: ENSMUSG00000026659

DomainStartEndE-ValueType
PTPc_DSPc 26 136 4e-4 SMART
Predicted Effect unknown
Transcript: ENSMUST00000171447
AA Change: Y94H
SMART Domains Protein: ENSMUSP00000130683
Gene: ENSMUSG00000026659
AA Change: Y94H

DomainStartEndE-ValueType
Pfam:DSPc 3 98 6.9e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171747
Predicted Effect probably benign
Transcript: ENSMUST00000180542
Predicted Effect probably benign
Transcript: ENSMUST00000172042
Meta Mutation Damage Score 0.9079 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Antxr2 G A 5: 98,086,284 (GRCm39) T441I possibly damaging Het
Apcs A G 1: 172,722,023 (GRCm39) Y108H probably benign Het
Atad5 A G 11: 79,988,840 (GRCm39) T666A probably benign Het
Atcay C T 10: 81,046,353 (GRCm39) probably null Het
Bahcc1 A G 11: 120,159,196 (GRCm39) D141G probably damaging Het
Ceacam10 A G 7: 24,477,689 (GRCm39) Y68C probably damaging Het
Cfap54 T A 10: 92,812,901 (GRCm39) Q1344L probably benign Het
Cyb5r4 A G 9: 86,948,795 (GRCm39) probably null Het
Cyp2b9 G T 7: 25,872,899 (GRCm39) S14I possibly damaging Het
Eml2 T C 7: 18,930,539 (GRCm39) V373A possibly damaging Het
Fat1 A G 8: 45,479,441 (GRCm39) D2829G probably damaging Het
Fbxl13 T C 5: 21,691,371 (GRCm39) T671A probably damaging Het
Fbxo28 G T 1: 182,153,805 (GRCm39) probably benign Het
Fbxo44 A G 4: 148,243,152 (GRCm39) L89P probably damaging Het
Fndc3b T A 3: 27,610,266 (GRCm39) probably null Het
Gm9955 G T 18: 24,842,209 (GRCm39) probably benign Het
Gprc6a T A 10: 51,491,080 (GRCm39) K819* probably null Het
Gxylt1 A T 15: 93,152,436 (GRCm39) probably benign Het
Hspa12a T C 19: 58,788,056 (GRCm39) T589A probably benign Het
Idh2 A G 7: 79,747,570 (GRCm39) S317P probably damaging Het
Ifi30 T C 8: 71,216,421 (GRCm39) probably null Het
Ifna16 G A 4: 88,594,867 (GRCm39) A76V probably benign Het
Itpr2 C T 6: 146,246,638 (GRCm39) E1127K probably damaging Het
Kank4 A G 4: 98,667,457 (GRCm39) V330A probably benign Het
Kpna1 T A 16: 35,843,611 (GRCm39) D328E probably damaging Het
Krt71 T A 15: 101,646,868 (GRCm39) H280L possibly damaging Het
Lrrc37 G A 11: 103,433,816 (GRCm39) P942S probably damaging Het
Mapt A G 11: 104,196,224 (GRCm39) M446V probably damaging Het
Med1 C T 11: 98,057,081 (GRCm39) probably null Het
Mif T A 10: 75,695,614 (GRCm39) H63L probably damaging Het
Mycbp2 A G 14: 103,461,708 (GRCm39) V1447A probably benign Het
Myo1b A T 1: 51,821,148 (GRCm39) I451N probably damaging Het
Nme2 A T 11: 93,842,756 (GRCm39) probably null Het
Nubp1 A G 16: 10,238,981 (GRCm39) T199A probably damaging Het
Nup210l T A 3: 90,089,212 (GRCm39) V1165D probably damaging Het
Nup98 T A 7: 101,841,241 (GRCm39) T122S probably damaging Het
Or14a258 A T 7: 86,035,715 (GRCm39) L51Q probably benign Het
Or1n2 T C 2: 36,797,470 (GRCm39) F171L probably damaging Het
Or5j1 C T 2: 86,879,548 (GRCm39) E11K probably damaging Het
Or6c202 T A 10: 128,996,608 (GRCm39) I82L probably benign Het
Pard3b A T 1: 62,676,979 (GRCm39) Y1170F probably damaging Het
Pear1 T C 3: 87,661,665 (GRCm39) D536G probably damaging Het
Phrf1 G T 7: 140,823,770 (GRCm39) R196L probably damaging Het
Plxna2 G T 1: 194,326,204 (GRCm39) R46L probably benign Het
Rbm39 G A 2: 155,990,099 (GRCm39) T496I possibly damaging Het
Rpl14 C G 9: 120,401,167 (GRCm39) F3L possibly damaging Het
Rtf2 G A 2: 172,286,616 (GRCm39) S40N probably damaging Het
Runx2 G A 17: 44,919,141 (GRCm39) S481L possibly damaging Het
Sh3rf1 T A 8: 61,782,286 (GRCm39) Y143N possibly damaging Het
Siglec15 G A 18: 78,092,092 (GRCm39) probably benign Het
Slc4a8 T A 15: 100,687,727 (GRCm39) I288N probably damaging Het
Ttc38 C A 15: 85,725,690 (GRCm39) F184L probably damaging Het
Vmn1r28 T C 6: 58,242,879 (GRCm39) Y241H probably damaging Het
Vmn2r110 A T 17: 20,816,346 (GRCm39) V59D probably benign Het
Wdpcp A G 11: 21,661,638 (GRCm39) I303M probably damaging Het
Zc3h12d G A 10: 7,743,678 (GRCm39) A483T probably benign Het
Zfp106 C A 2: 120,362,094 (GRCm39) K1008N probably damaging Het
Zfp334 A G 2: 165,223,492 (GRCm39) Y184H probably benign Het
Zfp68 G A 5: 138,606,041 (GRCm39) T94I probably benign Het
Zkscan3 A T 13: 21,579,090 (GRCm39) probably null 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
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
R6981:Dusp12 UTSW 1 170,708,530 (GRCm39) missense probably damaging 1.00
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'- TCCCAATGCCAAACTGAGGCGATG -3'
(R):5'- TCAAGCCAGAGGCTAAGTGAGTCC -3'

Sequencing Primer
(F):5'- AAGCCTTCACTCTAGACGGG -3'
(R):5'- GGAGTCCCAGTAATGCTTTTTC -3'
Posted On 2014-07-17