Incidental Mutation 'IGL01803:Dusp13'
ID155576
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dusp13
Ensembl Gene ENSMUSG00000021768
Gene Namedual specificity phosphatase 13
SynonymsTMDP, TS-DSP6, LMW-DSP6, LOC382853
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01803
Quality Score
Status
Chromosome14
Chromosomal Location21733394-21751181 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21733839 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 201 (V201A)
Ref Sequence ENSEMBL: ENSMUSP00000113305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075040] [ENSMUST00000119866] [ENSMUST00000120956] [ENSMUST00000120984] [ENSMUST00000127851] [ENSMUST00000183698] [ENSMUST00000183893] [ENSMUST00000183943] [ENSMUST00000184571] [ENSMUST00000184703]
Predicted Effect probably benign
Transcript: ENSMUST00000075040
SMART Domains Protein: ENSMUSP00000074553
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 37 181 7.66e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000119866
AA Change: V254A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112552
Gene: ENSMUSG00000021768
AA Change: V254A

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120956
AA Change: V201A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113305
Gene: ENSMUSG00000021768
AA Change: V201A

DomainStartEndE-ValueType
DSPc 110 255 9.29e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120984
AA Change: V136A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113985
Gene: ENSMUSG00000021768
AA Change: V136A

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127851
SMART Domains Protein: ENSMUSP00000120977
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
SCOP:d1vhra_ 20 133 9e-10 SMART
Blast:DSPc 37 129 5e-60 BLAST
PDB:2E0T|A 39 129 1e-26 PDB
low complexity region 162 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183698
AA Change: V159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139058
Gene: ENSMUSG00000021768
AA Change: V159A

DomainStartEndE-ValueType
DSPc 68 213 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183893
SMART Domains Protein: ENSMUSP00000139061
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
low complexity region 50 67 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183943
AA Change: V186A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768
AA Change: V186A

DomainStartEndE-ValueType
internal_repeat_1 19 71 6.78e-8 PROSPERO
DSPc 95 240 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184571
Predicted Effect probably damaging
Transcript: ENSMUST00000184703
AA Change: V136A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138972
Gene: ENSMUSG00000021768
AA Change: V136A

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In humans, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,952,469 L532Q probably damaging Het
Bod1l A T 5: 41,817,389 V2194D probably damaging Het
Cenpf G A 1: 189,654,771 Q1771* probably null Het
Cfap100 C A 6: 90,415,735 R131L probably benign Het
Coch A T 12: 51,603,299 Q357L probably benign Het
Col14a1 A G 15: 55,418,814 T824A unknown Het
Dnah9 T C 11: 66,118,829 Y744C probably damaging Het
Egf T A 3: 129,736,766 H249L probably benign Het
Elmod1 G A 9: 53,931,480 P132L probably benign Het
Eps8l2 T C 7: 141,358,230 V459A probably benign Het
Fbn1 T C 2: 125,350,287 D1434G probably damaging Het
Fbn1 G A 2: 125,301,725 T2828I probably benign Het
Gbp9 C T 5: 105,094,173 D173N probably damaging Het
Gbp9 T C 5: 105,085,018 D256G probably damaging Het
Gm11492 G A 11: 87,568,249 S483N probably benign Het
Gpsm1 G A 2: 26,346,909 A580T probably damaging Het
Hnrnpf T C 6: 117,907,133 probably benign Het
Krt33a T C 11: 100,012,017 E327G probably benign Het
M1ap T A 6: 83,005,584 I283K probably benign Het
Mars2 A G 1: 55,237,996 S253G probably damaging Het
Myh6 A T 14: 54,944,543 M1767K probably damaging Het
Myo3a T A 2: 22,241,115 D16E probably damaging Het
Pitrm1 T A 13: 6,579,435 Y978N probably benign Het
Plekha6 G T 1: 133,272,414 E66* probably null Het
Polk C T 13: 96,504,522 V176M probably damaging Het
Pom121 G T 5: 135,381,609 probably benign Het
Rnf213 T A 11: 119,441,307 D2447E probably damaging Het
Sall3 T C 18: 80,969,832 M1130V possibly damaging Het
Scn3a A G 2: 65,521,783 probably benign Het
Sel1l A T 12: 91,830,730 M241K probably benign Het
Ssh2 T G 11: 77,425,330 L259R probably damaging Het
Tnr G T 1: 159,868,243 G579W probably damaging Het
Vmn1r85 G T 7: 13,084,569 A216D probably damaging Het
Vmn2r83 C A 10: 79,469,060 H35N probably benign Het
Zar1l T A 5: 150,518,104 Y19F probably benign Het
Other mutations in Dusp13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02963:Dusp13 APN 14 21733807 missense possibly damaging 0.86
R0827:Dusp13 UTSW 14 21742771 missense probably benign
R1185:Dusp13 UTSW 14 21735018 missense probably damaging 1.00
R1185:Dusp13 UTSW 14 21735018 missense probably damaging 1.00
R1185:Dusp13 UTSW 14 21735018 missense probably damaging 1.00
R1882:Dusp13 UTSW 14 21734975 missense probably benign 0.04
R2915:Dusp13 UTSW 14 21740137 missense probably damaging 1.00
R3954:Dusp13 UTSW 14 21740107 missense probably damaging 1.00
R4623:Dusp13 UTSW 14 21743478 unclassified probably benign
R4837:Dusp13 UTSW 14 21743525 utr 3 prime probably benign
R6713:Dusp13 UTSW 14 21748473 missense probably damaging 1.00
R7294:Dusp13 UTSW 14 21733714 missense possibly damaging 0.47
R7782:Dusp13 UTSW 14 21741336 missense possibly damaging 0.86
Posted On2014-02-04