Incidental Mutation 'IGL02696:Dusp16'
ID 303932
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: 0.844) question?
Stock # IGL02696
Quality Score
Status
Chromosome 6
Chromosomal Location 134715468-134792625 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134718435 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 478 (R478C)
Ref Sequence ENSEMBL: ENSMUSP00000098419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100857] [ENSMUST00000129433] [ENSMUST00000204083]
AlphaFold Q6PCP3
Predicted Effect probably damaging
Transcript: ENSMUST00000100857
AA Change: R478C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: R478C

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 probably benign
Transcript: ENSMUST00000129433
SMART Domains Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203

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 noncoding transcript
Transcript: ENSMUST00000203452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203651
Predicted Effect probably benign
Transcript: ENSMUST00000204083
SMART Domains Protein: ENSMUSP00000144834
Gene: ENSMUSG00000030203

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Adgrd1 T C 5: 129,140,854 probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
D930048N14Rik T A 11: 51,653,994 probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Hs6st3 A T 14: 119,869,319 I380F probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Matn4 A G 2: 164,396,838 F343S probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Nap1l4 A T 7: 143,524,161 N345K possibly damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Syt16 T C 12: 74,129,411 V18A possibly damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S probably damaging 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
IGL02606:Dusp16 APN 6 134761036 missense probably damaging 0.96
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