Incidental Mutation 'IGL02606:Dusp16'
ID 300283
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp16
Ensembl Gene ENSMUSG00000030203
Gene Name dual specificity phosphatase 16
Synonyms 3830417M17Rik, D6Ertd213e, MKP7, MKP-7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.854) question?
Stock # IGL02606
Quality Score
Status
Chromosome 6
Chromosomal Location 134715468-134792625 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134761036 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 13 (E13G)
Ref Sequence ENSEMBL: ENSMUSP00000144834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100857] [ENSMUST00000129433] [ENSMUST00000149776] [ENSMUST00000204083]
AlphaFold Q6PCP3
Predicted Effect possibly damaging
Transcript: ENSMUST00000100857
AA Change: E13G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: E13G

DomainStartEndE-ValueType
RHOD 12 134 5.58e-16 SMART
DSPc 158 297 1.66e-68 SMART
Blast:DSPc 576 621 9e-11 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000129433
AA Change: E13G

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203
AA Change: E13G

DomainStartEndE-ValueType
Blast:RHOD 1 67 8e-41 BLAST
PDB:2VSW|B 1 83 1e-52 PDB
DSPc 91 232 3.73e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148926
Predicted Effect possibly damaging
Transcript: ENSMUST00000149776
AA Change: E13G

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000144784
Gene: ENSMUSG00000030203
AA Change: E13G

DomainStartEndE-ValueType
RHOD 12 134 5.58e-16 SMART
Blast:DSPc 158 203 2e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000204083
AA Change: E13G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144834
Gene: ENSMUSG00000030203
AA Change: E13G

DomainStartEndE-ValueType
RHOD 12 124 1.5e-8 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitogen-activated protein kinase phosphatase that 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. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit complete neonatal lethality and decreased birth weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,242,781 N74I probably benign Het
Abr T C 11: 76,479,164 K75R probably damaging Het
Adcy10 A C 1: 165,519,518 D368A possibly damaging Het
Alas1 A G 9: 106,241,110 probably benign Het
Alms1 T A 6: 85,599,967 D168E probably benign Het
Ankar C T 1: 72,690,285 A82T possibly damaging Het
Atp2c2 C T 8: 119,730,274 T205I probably benign Het
Atp9a A T 2: 168,652,668 L639Q probably damaging Het
Btf3l4 T C 4: 108,818,214 D134G probably benign Het
Cacna1s T C 1: 136,079,519 C425R probably damaging Het
Ccdc105 A G 10: 78,748,466 Y372H probably benign Het
Cct6b G T 11: 82,736,445 T322N probably damaging Het
Col19a1 G A 1: 24,534,116 R192* probably null Het
Cyp8b1 A T 9: 121,915,735 F177Y probably damaging Het
Dnajc11 T A 4: 151,979,484 N474K probably benign Het
Ephx2 T C 14: 66,086,292 N397S probably damaging Het
Fancm T C 12: 65,076,139 V145A possibly damaging Het
Fiz1 A G 7: 5,009,159 L120P possibly damaging Het
Galnt6 C T 15: 100,714,219 V181M probably damaging Het
Ginm1 A G 10: 7,770,399 V279A probably damaging Het
Gja10 T G 4: 32,601,509 I292L probably benign Het
Gnb3 T C 6: 124,837,415 S136G probably benign Het
Gramd1a A T 7: 31,134,515 V495E probably damaging Het
Il1rn G T 2: 24,345,450 probably benign Het
Itpr3 A G 17: 27,114,512 probably benign Het
Kctd1 A G 18: 15,062,880 S229P possibly damaging Het
Kdm4a T C 4: 118,160,289 T527A probably benign Het
Kif14 C T 1: 136,496,593 A982V probably damaging Het
Klf6 A G 13: 5,866,735 K293R probably damaging Het
Letmd1 A G 15: 100,475,091 D92G probably damaging Het
Lmod1 G A 1: 135,364,480 V358M probably benign Het
Ndufs1 A T 1: 63,159,852 D295E probably damaging Het
Nek4 A G 14: 30,963,959 N283S probably benign Het
Nhsl1 A G 10: 18,511,637 T220A probably damaging Het
Nucks1 T A 1: 131,924,625 D71E probably damaging Het
Olfr1537 C A 9: 39,238,194 V77F probably damaging Het
Olfr732 T C 14: 50,282,073 Y60C probably damaging Het
Pkhd1l1 A G 15: 44,589,456 T3926A probably benign Het
Pptc7 T A 5: 122,313,588 probably benign Het
Prdm11 A G 2: 92,975,603 V334A probably benign Het
Ptdss2 C A 7: 141,152,998 C231* probably null Het
R3hdm1 C T 1: 128,190,719 P570S probably benign Het
Rlbp1 T C 7: 79,377,289 T208A possibly damaging Het
Rnaseh2a T G 8: 84,960,094 D142A probably damaging Het
Rufy4 C T 1: 74,133,350 probably benign Het
Tmem56 G T 3: 121,228,364 D128E possibly damaging Het
Ttn A G 2: 76,816,221 I11081T possibly damaging Het
Ubap2l A T 3: 90,038,428 S173R probably damaging Het
Vmn1r80 A G 7: 12,193,032 N23S probably damaging Het
Vwce C A 19: 10,655,348 probably benign Het
Other mutations in Dusp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01090:Dusp16 APN 6 134725949 missense probably benign 0.13
IGL01305:Dusp16 APN 6 134718861 missense probably benign 0.03
IGL01331:Dusp16 APN 6 134718104 missense possibly damaging 0.53
IGL02535:Dusp16 APN 6 134718827 missense probably benign
IGL02696:Dusp16 APN 6 134718435 missense probably damaging 0.99
ANU22:Dusp16 UTSW 6 134718861 missense probably benign 0.03
PIT4469001:Dusp16 UTSW 6 134761152 unclassified probably benign
PIT4504001:Dusp16 UTSW 6 134739883 missense possibly damaging 0.90
R0492:Dusp16 UTSW 6 134718402 missense probably benign
R0578:Dusp16 UTSW 6 134718321 missense probably damaging 1.00
R1630:Dusp16 UTSW 6 134720561 missense probably damaging 1.00
R1962:Dusp16 UTSW 6 134718136 nonsense probably null
R2004:Dusp16 UTSW 6 134718839 missense probably benign
R3690:Dusp16 UTSW 6 134761119 unclassified probably benign
R3730:Dusp16 UTSW 6 134718861 missense probably benign
R5778:Dusp16 UTSW 6 134718314 missense probably benign 0.01
R6267:Dusp16 UTSW 6 134720493 critical splice donor site probably null
R6296:Dusp16 UTSW 6 134720493 critical splice donor site probably null
R6860:Dusp16 UTSW 6 134725879 nonsense probably null
R7248:Dusp16 UTSW 6 134718977 missense probably benign 0.01
R7645:Dusp16 UTSW 6 134725925 missense probably damaging 0.97
R8108:Dusp16 UTSW 6 134739873 missense probably benign
R8743:Dusp16 UTSW 6 134717970 missense probably benign 0.35
R8824:Dusp16 UTSW 6 134739769 missense probably benign
R8934:Dusp16 UTSW 6 134741676 intron probably benign
R9328:Dusp16 UTSW 6 134739939 missense probably damaging 1.00
R9364:Dusp16 UTSW 6 134719019 missense probably damaging 1.00
R9430:Dusp16 UTSW 6 134760866 missense probably damaging 1.00
Posted On 2015-04-16