Incidental Mutation 'IGL01090:Dusp16'
ID 51291
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 # IGL01090
Quality Score
Status
Chromosome 6
Chromosomal Location 134715468-134792625 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134725949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 193 (N193S)
Ref Sequence ENSEMBL: ENSMUSP00000115925 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100857] [ENSMUST00000129433] [ENSMUST00000204083]
AlphaFold Q6PCP3
Predicted Effect probably benign
Transcript: ENSMUST00000100857
AA Change: N193S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098419
Gene: ENSMUSG00000030203
AA Change: N193S

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
AA Change: N193S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000115925
Gene: ENSMUSG00000030203
AA Change: N193S

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 silent
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,919,118 S316P possibly damaging Het
Actn1 A T 12: 80,199,072 probably null Het
Agbl3 T C 6: 34,799,887 Y443H probably benign Het
Akap13 T A 7: 75,666,531 D578E probably benign Het
Aldoa A T 7: 126,796,035 H292Q probably benign Het
Als2 T C 1: 59,215,616 K194R possibly damaging Het
Bivm C A 1: 44,129,291 H244N probably damaging Het
Cabp5 G A 7: 13,405,487 E146K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clcn4 A G 7: 7,294,036 V129A probably benign Het
Clec4g A G 8: 3,719,482 S54P probably damaging Het
Crim1 G T 17: 78,347,229 V645L probably damaging Het
Csta1 T C 16: 36,125,051 T31A probably damaging Het
D930048N14Rik T C 11: 51,653,783 probably benign Het
Dhx34 G T 7: 16,216,256 P329Q probably damaging Het
Fbn1 A G 2: 125,394,776 probably benign Het
Fbxo46 A G 7: 19,136,803 Y449C probably damaging Het
Fmo4 C A 1: 162,809,785 probably null Het
Foxi3 C A 6: 70,960,745 N320K probably damaging Het
Gm9964 A G 11: 79,296,384 L79P unknown Het
Gpr161 T C 1: 165,306,580 I137T probably damaging Het
Herc1 C T 9: 66,469,175 Q3426* probably null Het
Hps5 C T 7: 46,788,327 R108H probably benign Het
Itch T A 2: 155,206,336 V540E probably damaging Het
L3mbtl1 C A 2: 162,966,005 P520H probably damaging Het
Mvp A G 7: 126,989,687 V636A probably benign Het
Odf4 A G 11: 68,921,952 probably benign Het
Olfr830 A G 9: 18,876,242 K305R probably benign Het
Pld1 T C 3: 28,088,667 S675P probably benign Het
Plod3 A G 5: 136,990,236 D325G probably benign Het
Prss12 T C 3: 123,482,739 V339A possibly damaging Het
Ptpn13 T A 5: 103,541,314 L991Q probably null Het
Ptpn3 T A 4: 57,240,833 I261F probably damaging Het
Rab3gap1 T C 1: 127,930,387 probably benign Het
Rasa4 A G 5: 136,101,993 R373G possibly damaging Het
Rmi1 T C 13: 58,409,394 S486P probably damaging Het
Slc25a23 A G 17: 57,047,233 I139T probably benign Het
Sspo T A 6: 48,490,125 S4017T probably benign Het
Tcaf1 C A 6: 42,686,622 C108F probably benign Het
Tnc T C 4: 64,000,080 Q1198R probably damaging Het
Tnni3k G T 3: 154,939,683 Q522K possibly damaging Het
Trio T A 15: 27,773,007 E713V probably damaging Het
Ugt2b34 C A 5: 86,893,820 V338F probably damaging Het
Usp40 T A 1: 87,962,465 M892L probably benign Het
Usp54 A T 14: 20,586,157 probably benign Het
Vmn2r53 T C 7: 12,600,908 E275G possibly damaging Het
Vmn2r87 A G 10: 130,497,378 M1T probably null Het
Wdr66 A C 5: 123,279,989 probably benign Het
Wdr83os A T 8: 85,081,847 D76V probably damaging Het
Other mutations in Dusp16
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21