Incidental Mutation 'R7294:Dusp13b'
ID 566636
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 045399-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7294 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 21783463-21792947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21783782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 178 (S178P)
Ref Sequence ENSEMBL: ENSMUSP00000113985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075040] [ENSMUST00000119866] [ENSMUST00000120956] [ENSMUST00000120984] [ENSMUST00000127851] [ENSMUST00000183698] [ENSMUST00000183893] [ENSMUST00000183943] [ENSMUST00000184571] [ENSMUST00000184703]
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 possibly damaging
Transcript: ENSMUST00000119866
AA Change: S296P

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112552
Gene: ENSMUSG00000021768
AA Change: S296P

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120956
AA Change: S243P

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113305
Gene: ENSMUSG00000021768
AA Change: S243P

DomainStartEndE-ValueType
DSPc 110 255 9.29e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120984
AA Change: S178P

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113985
Gene: ENSMUSG00000021768
AA Change: S178P

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 possibly damaging
Transcript: ENSMUST00000183698
AA Change: S201P

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139058
Gene: ENSMUSG00000021768
AA Change: S201P

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 possibly damaging
Transcript: ENSMUST00000183943
AA Change: S228P

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768
AA Change: S228P

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 possibly damaging
Transcript: ENSMUST00000184703
AA Change: S178P

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138972
Gene: ENSMUSG00000021768
AA Change: S178P

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (49/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,650,541 (GRCm39) Y1216* probably null Het
Abca17 G A 17: 24,539,983 (GRCm39) T415M not run Het
Adam1a G T 5: 121,658,068 (GRCm39) C408* probably null Het
Adamts9 G A 6: 92,871,270 (GRCm39) T603M probably damaging Het
Amdhd1 T C 10: 93,370,301 (GRCm39) E179G probably benign Het
Bcan T C 3: 87,902,831 (GRCm39) T316A possibly damaging Het
Bpifb9a C T 2: 154,109,616 (GRCm39) T504M probably damaging Het
C5ar1 T C 7: 15,982,950 (GRCm39) I23M probably benign Het
Cd109 A T 9: 78,619,917 (GRCm39) E1386D probably damaging Het
Cdcp1 C T 9: 123,006,986 (GRCm39) C587Y probably benign Het
Cdh22 A C 2: 164,984,013 (GRCm39) V413G possibly damaging Het
Cfap44 A G 16: 44,225,256 (GRCm39) probably benign Het
Col2a1 A G 15: 97,885,168 (GRCm39) probably null Het
Col6a3 A T 1: 90,756,005 (GRCm39) Y95N probably damaging Het
Fhod3 A G 18: 25,266,037 (GRCm39) E1575G probably damaging Het
Gfpt2 C T 11: 49,709,435 (GRCm39) R209* probably null Het
Heg1 T C 16: 33,546,859 (GRCm39) S573P probably damaging Het
Hinfp A G 9: 44,210,567 (GRCm39) C152R probably damaging Het
Hmgcs2 C T 3: 98,198,211 (GRCm39) T38I probably benign Het
Jakmip1 T C 5: 37,274,804 (GRCm39) F441L possibly damaging Het
Kcnj5 A C 9: 32,234,045 (GRCm39) L90R probably damaging Het
Kpna4 A C 3: 68,999,956 (GRCm39) probably null Het
Krt15 T A 11: 100,022,848 (GRCm39) I456F possibly damaging Het
Leprotl1 A T 8: 34,606,006 (GRCm39) probably null Het
Muc4 A T 16: 32,576,835 (GRCm39) T42S possibly damaging Het
Naa80 T G 9: 107,460,182 (GRCm39) F26V possibly damaging Het
Nr1h5 T C 3: 102,852,578 (GRCm39) T419A probably benign Het
Nutm1 G A 2: 112,080,401 (GRCm39) R505C probably damaging Het
Or4c12 A C 2: 89,774,068 (GRCm39) Y130* probably null Het
Or52b3 T A 7: 102,204,160 (GRCm39) I223N probably damaging Het
Pax6 T A 2: 105,515,246 (GRCm39) C66* probably null Het
Pde10a A T 17: 8,975,853 (GRCm39) N53Y probably benign Het
Pdgfra A G 5: 75,342,312 (GRCm39) N711S probably benign Het
Rimkla A T 4: 119,325,663 (GRCm39) S249T probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scn3a A G 2: 65,302,685 (GRCm39) S1254P probably damaging Het
Slc26a1 G T 5: 108,821,698 (GRCm39) R80S possibly damaging Het
Slc2a4 T C 11: 69,836,225 (GRCm39) D262G probably benign Het
Specc1 T A 11: 62,009,163 (GRCm39) S226R probably benign Het
Srsf4 A G 4: 131,627,772 (GRCm39) S289G unknown Het
Stil T C 4: 114,864,480 (GRCm39) V127A probably benign Het
Syne1 A T 10: 5,047,483 (GRCm39) probably null Het
Tbc1d22a T A 15: 86,196,036 (GRCm39) Y336N possibly damaging Het
Tbc1d8 C T 1: 39,445,843 (GRCm39) G116E probably damaging Het
Thrb A G 14: 17,826,963 (GRCm38) probably benign Het
Timd5 T A 11: 46,426,439 (GRCm39) I182K probably benign Het
Tln1 G T 4: 43,534,399 (GRCm39) H2253Q probably benign Het
Tmem131 A C 1: 36,893,928 (GRCm39) N158K possibly damaging Het
Toporsl A C 4: 52,611,903 (GRCm39) T599P probably benign Het
Tpr C T 1: 150,279,638 (GRCm39) R256C probably damaging Het
Triobp C T 15: 78,858,176 (GRCm39) A1259V probably damaging Het
Zfp40 A G 17: 23,395,411 (GRCm39) I392T possibly damaging 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
R0827:Dusp13b UTSW 14 21,792,839 (GRCm39) missense probably benign
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
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'- TCTGTACTGTGTCAGGGGAC -3'
(R):5'- TACAAGTGGCCAACGCTAGC -3'

Sequencing Primer
(F):5'- TACTGTGTCAGGGGACTCCAC -3'
(R):5'- AGCTTGGGTCTTCCTACAGGC -3'
Posted On 2019-06-26