Incidental Mutation 'R0827:Dusp13b'
ID 78341
Institutional Source Beutler Lab
Gene Symbol Dusp13b
Ensembl Gene ENSMUSG00000021768
Gene Name dual specificity phosphatase 13B
Synonyms TS-DSP6, TMDP, Dusp13, LMW-DSP6, LOC382853
MMRRC Submission 039007-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0827 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21783463-21792947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21792839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 29 (V29L)
Ref Sequence ENSEMBL: ENSMUSP00000113305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075040] [ENSMUST00000119866] [ENSMUST00000120956] [ENSMUST00000120984] [ENSMUST00000127851] [ENSMUST00000153071] [ENSMUST00000184571] [ENSMUST00000183893] [ENSMUST00000183943] [ENSMUST00000185042] [ENSMUST00000184703] [ENSMUST00000183698]
AlphaFold Q9QYJ7
Predicted Effect probably benign
Transcript: ENSMUST00000075040
SMART Domains Protein: ENSMUSP00000074553
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 37 181 7.66e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119866
SMART Domains Protein: ENSMUSP00000112552
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120956
AA Change: V29L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113305
Gene: ENSMUSG00000021768
AA Change: V29L

DomainStartEndE-ValueType
DSPc 110 255 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120984
SMART Domains Protein: ENSMUSP00000113985
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127051
SMART Domains Protein: ENSMUSP00000127910
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 9 142 2.4e-24 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 noncoding transcript
Transcript: ENSMUST00000141004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142076
Predicted Effect probably benign
Transcript: ENSMUST00000153071
SMART Domains Protein: ENSMUSP00000139140
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
Pfam:DSPc 1 48 5.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184571
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 benign
Transcript: ENSMUST00000183943
SMART Domains Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
internal_repeat_1 19 71 6.78e-8 PROSPERO
DSPc 95 240 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185042
Predicted Effect probably benign
Transcript: ENSMUST00000184703
SMART Domains Protein: ENSMUSP00000138972
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183698
SMART Domains Protein: ENSMUSP00000139058
Gene: ENSMUSG00000021768

DomainStartEndE-ValueType
DSPc 68 213 9.29e-31 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.6%
Validation Efficiency 100% (88/88)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,749,419 (GRCm39) S1397P probably benign Het
Adamts15 T C 9: 30,832,776 (GRCm39) Y253C probably damaging Het
Ankk1 A G 9: 49,333,037 (GRCm39) I149T possibly damaging Het
Ankrd63 A G 2: 118,533,034 (GRCm39) S296P possibly damaging Het
Arpc1b T G 5: 145,062,566 (GRCm39) C227G probably benign Het
B4gat1 A G 19: 5,089,725 (GRCm39) R241G possibly damaging Het
Ccar2 T C 14: 70,377,287 (GRCm39) N751D probably benign Het
Cd55b T C 1: 130,341,973 (GRCm39) I221M probably damaging Het
Cntn5 A G 9: 9,666,943 (GRCm39) V1032A possibly damaging Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Colec10 G A 15: 54,325,980 (GRCm39) C270Y probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cyp2j12 T G 4: 96,001,099 (GRCm39) probably benign Het
Dennd5a G A 7: 109,498,938 (GRCm39) T999M probably damaging Het
Efr3a A C 15: 65,725,400 (GRCm39) D83A possibly damaging Het
Elmod2 A G 8: 84,043,424 (GRCm39) probably null Het
Eml3 C A 19: 8,915,830 (GRCm39) T640K probably damaging Het
Eps8l1 T C 7: 4,480,388 (GRCm39) V543A possibly damaging Het
Ermn T C 2: 57,938,263 (GRCm39) K117E probably damaging Het
F830045P16Rik A G 2: 129,314,696 (GRCm39) S194P probably benign Het
Faim2 A G 15: 99,422,617 (GRCm39) V60A probably benign Het
Fancd2 G A 6: 113,563,210 (GRCm39) probably null Het
Fbxo43 A T 15: 36,163,115 (GRCm39) S31T possibly damaging Het
Gab2 G A 7: 96,949,539 (GRCm39) R411Q probably damaging Het
Gpm6a A T 8: 55,511,918 (GRCm39) D264V probably damaging Het
H1f6 A G 13: 23,880,204 (GRCm39) D119G probably benign Het
Hsp90aa1 T C 12: 110,659,129 (GRCm39) E556G probably benign Het
Ifi203 A T 1: 173,756,029 (GRCm39) probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kcnc3 A G 7: 44,244,630 (GRCm39) T307A probably damaging Het
Kin C A 2: 10,095,187 (GRCm39) probably benign Het
Knl1 T C 2: 118,919,382 (GRCm39) probably benign Het
Lrp4 G A 2: 91,325,386 (GRCm39) V1404M probably damaging Het
Lrrc71 T A 3: 87,649,952 (GRCm39) probably null Het
Med13l T C 5: 118,864,312 (GRCm39) probably benign Het
Mfap5 A G 6: 122,497,879 (GRCm39) D39G probably damaging Het
Mlxipl T C 5: 135,161,592 (GRCm39) S504P probably benign Het
Myo3a T G 2: 22,448,227 (GRCm39) Y1D probably damaging Het
Nek1 A G 8: 61,558,682 (GRCm39) probably benign Het
Nfkbiz T C 16: 55,636,730 (GRCm39) R524G probably damaging Het
Npbwr1 T C 1: 5,987,008 (GRCm39) T169A possibly damaging Het
Nuggc T C 14: 65,846,340 (GRCm39) Y84H probably damaging Het
Nxph3 G A 11: 95,402,252 (GRCm39) S54L probably benign Het
Or13a21 A G 7: 139,999,380 (GRCm39) F102S probably damaging Het
Or9e1 T C 11: 58,732,597 (GRCm39) I219T probably damaging Het
Ostn A G 16: 27,143,381 (GRCm39) N70D probably damaging Het
Pate7 A T 9: 35,689,147 (GRCm39) L12Q probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Pnpla6 A T 8: 3,567,618 (GRCm39) M109L possibly damaging Het
Ppil6 T A 10: 41,370,500 (GRCm39) probably benign Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Ptprd A T 4: 76,047,152 (GRCm39) D371E probably damaging Het
Ripor2 T A 13: 24,878,169 (GRCm39) F315I probably damaging Het
Rmi2 G A 16: 10,653,104 (GRCm39) G51S probably damaging Het
Scg3 A G 9: 75,590,979 (GRCm39) I10T possibly damaging Het
Scn9a T A 2: 66,366,468 (GRCm39) K761* probably null Het
Scyl2 A G 10: 89,493,727 (GRCm39) L347P possibly damaging Het
Sh3d21 A G 4: 126,046,064 (GRCm39) probably benign Het
Shc1 T A 3: 89,334,090 (GRCm39) probably null Het
Slbp A G 5: 33,801,166 (GRCm39) S182P probably damaging Het
Slc24a1 C T 9: 64,835,472 (GRCm39) G885D probably benign Het
Slc24a3 T C 2: 145,360,412 (GRCm39) probably benign Het
Sowahb T G 5: 93,191,145 (GRCm39) N525H probably damaging Het
Sppl3 T A 5: 115,220,392 (GRCm39) C101* probably null Het
Srsf5 A G 12: 80,996,314 (GRCm39) K163E probably damaging Het
Sult2a4 A G 7: 13,718,886 (GRCm39) I119T probably benign Het
Svep1 A G 4: 58,053,113 (GRCm39) probably benign Het
Tas1r3 G A 4: 155,945,326 (GRCm39) R632W probably benign Het
Tlr4 T A 4: 66,752,117 (GRCm39) probably null Het
Tmf1 A C 6: 97,135,011 (GRCm39) L1001* probably null Het
Tnnt2 A G 1: 135,771,534 (GRCm39) probably benign Het
Trank1 G A 9: 111,178,485 (GRCm39) probably benign Het
Trdn A T 10: 33,275,154 (GRCm39) probably benign Het
Trmt6 A T 2: 132,657,754 (GRCm39) V34E probably damaging Het
Trrap T C 5: 144,751,640 (GRCm39) F1699L probably benign Het
Ttk A G 9: 83,725,968 (GRCm39) R250G probably benign Het
Ttn T A 2: 76,640,248 (GRCm39) I13787F probably damaging Het
Uggt1 T A 1: 36,195,394 (GRCm39) probably null Het
Ugt2b35 T A 5: 87,155,989 (GRCm39) probably benign Het
Ugt2b36 C A 5: 87,214,234 (GRCm39) R470L possibly damaging Het
Unk A G 11: 115,943,935 (GRCm39) D352G possibly damaging Het
Vmn2r77 G T 7: 86,451,224 (GRCm39) C370F probably damaging Het
Vmn2r85 A G 10: 130,265,387 (GRCm39) I32T possibly damaging Het
Zfp637 A G 6: 117,822,405 (GRCm39) I178V possibly damaging Het
Zfp943 A G 17: 22,211,071 (GRCm39) probably null Het
Zyg11a A G 4: 108,067,239 (GRCm39) probably benign Het
Other mutations in Dusp13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Dusp13b APN 14 21,783,907 (GRCm39) missense probably damaging 1.00
IGL02963:Dusp13b APN 14 21,783,875 (GRCm39) missense possibly damaging 0.86
R1185:Dusp13b UTSW 14 21,785,086 (GRCm39) missense probably damaging 1.00
R1185:Dusp13b UTSW 14 21,785,086 (GRCm39) missense probably damaging 1.00
R1185:Dusp13b UTSW 14 21,785,086 (GRCm39) missense probably damaging 1.00
R1882:Dusp13b UTSW 14 21,785,043 (GRCm39) missense probably benign 0.04
R2915:Dusp13b UTSW 14 21,790,205 (GRCm39) missense probably damaging 1.00
R3954:Dusp13b UTSW 14 21,790,175 (GRCm39) missense probably damaging 1.00
R4623:Dusp13b UTSW 14 21,793,546 (GRCm39) unclassified probably benign
R4837:Dusp13b UTSW 14 21,793,593 (GRCm39) utr 3 prime probably benign
R6713:Dusp13b UTSW 14 21,798,541 (GRCm39) missense probably damaging 1.00
R7294:Dusp13b UTSW 14 21,783,782 (GRCm39) missense possibly damaging 0.47
R7782:Dusp13b UTSW 14 21,791,404 (GRCm39) missense possibly damaging 0.86
R8088:Dusp13b UTSW 14 21,791,305 (GRCm39) missense probably benign 0.33
R8176:Dusp13b UTSW 14 21,797,549 (GRCm39) missense possibly damaging 0.81
R8227:Dusp13b UTSW 14 21,792,869 (GRCm39) missense probably benign
R8520:Dusp13b UTSW 14 21,793,538 (GRCm39) nonsense probably null
R8724:Dusp13b UTSW 14 21,796,475 (GRCm39) missense probably benign 0.04
R8973:Dusp13b UTSW 14 21,784,974 (GRCm39) missense probably benign 0.01
R9031:Dusp13b UTSW 14 21,790,233 (GRCm39) missense probably benign 0.00
R9142:Dusp13b UTSW 14 21,792,756 (GRCm39) missense probably benign 0.30
R9186:Dusp13b UTSW 14 21,798,563 (GRCm39) missense probably damaging 0.97
R9258:Dusp13b UTSW 14 21,791,155 (GRCm39) missense probably benign 0.44
R9630:Dusp13b UTSW 14 21,784,974 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGTGGCTTTCTTGCCCACACTG -3'
(R):5'- TTTATGTGGCACCTGCCCTGATG -3'

Sequencing Primer
(F):5'- GGCACTAGTAGCATCTCTAGC -3'
(R):5'- TGATGCAGGGCCTCTGG -3'
Posted On 2013-10-16