Incidental Mutation 'R1882:Dusp13b'
ID 209199
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 039903-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1882 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 21783463-21792947 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21785043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 223 (D223E)
Ref Sequence ENSEMBL: ENSMUSP00000112552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075040] [ENSMUST00000119866] [ENSMUST00000120956] [ENSMUST00000120984] [ENSMUST00000127851] [ENSMUST00000183698] [ENSMUST00000184703] [ENSMUST00000183943] [ENSMUST00000183893] [ENSMUST00000184571]
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
AA Change: D223E

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112552
Gene: ENSMUSG00000021768
AA Change: D223E

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120956
AA Change: D170E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000113305
Gene: ENSMUSG00000021768
AA Change: D170E

DomainStartEndE-ValueType
DSPc 110 255 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120984
AA Change: D105E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113985
Gene: ENSMUSG00000021768
AA Change: D105E

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 benign
Transcript: ENSMUST00000183698
AA Change: D128E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000139058
Gene: ENSMUSG00000021768
AA Change: D128E

DomainStartEndE-ValueType
DSPc 68 213 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184703
AA Change: D105E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138972
Gene: ENSMUSG00000021768
AA Change: D105E

DomainStartEndE-ValueType
DSPc 45 190 9.29e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183943
AA Change: D155E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000139154
Gene: ENSMUSG00000021768
AA Change: D155E

DomainStartEndE-ValueType
internal_repeat_1 19 71 6.78e-8 PROSPERO
DSPc 95 240 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 benign
Transcript: ENSMUST00000184571
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.6%
  • 20x: 93.5%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,786,945 (GRCm39) S189P probably benign Het
Adgrg3 G T 8: 95,766,943 (GRCm39) V433F probably benign Het
Arhgap33 A T 7: 30,222,234 (GRCm39) W1233R probably damaging Het
Brf2 T C 8: 27,618,577 (GRCm39) D9G probably damaging Het
Btrc G A 19: 45,515,839 (GRCm39) R562Q probably damaging Het
Cenpu T C 8: 47,009,225 (GRCm39) F67L probably damaging Het
Chia1 T C 3: 106,035,790 (GRCm39) M150T probably damaging Het
Cntln A G 4: 85,019,072 (GRCm39) E1254G probably damaging Het
Creld1 G A 6: 113,469,166 (GRCm39) C332Y probably damaging Het
Ctla2a A G 13: 61,083,355 (GRCm39) probably benign Het
Ext1 C A 15: 52,939,188 (GRCm39) L620F probably damaging Het
H2-DMb2 C T 17: 34,366,834 (GRCm39) R89C probably damaging Het
Klhl32 A T 4: 24,743,916 (GRCm39) L17* probably null Het
Lats2 C T 14: 57,934,811 (GRCm39) V640M probably damaging Het
Lrig3 G A 10: 125,845,694 (GRCm39) V708I possibly damaging Het
Mtcl1 T C 17: 66,686,315 (GRCm39) T415A probably benign Het
Mynn A G 3: 30,670,962 (GRCm39) *611W probably null Het
Nfx1 A G 4: 41,009,240 (GRCm39) T793A possibly damaging Het
Nlrp4d T C 7: 10,116,604 (GRCm39) noncoding transcript Het
Nos3 T C 5: 24,573,818 (GRCm39) V194A probably damaging Het
Npc1l1 C T 11: 6,167,473 (GRCm39) probably null Het
Nrg2 T C 18: 36,154,150 (GRCm39) D589G probably damaging Het
Omg C T 11: 79,392,545 (GRCm39) probably benign Het
Or10v9 T C 19: 11,832,835 (GRCm39) T161A probably damaging Het
Or14j5 T C 17: 38,161,839 (GRCm39) S119P probably damaging Het
Or2y17 A G 11: 49,231,539 (GRCm39) Y60C probably damaging Het
Or8k16 T A 2: 85,519,950 (GRCm39) M59K probably damaging Het
P2ry2 G T 7: 100,648,058 (GRCm39) Y82* probably null Het
Pcdh1 T C 18: 38,335,895 (GRCm39) T247A possibly damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pgm3 A G 9: 86,447,743 (GRCm39) Y167H possibly damaging Het
Pramel15 A T 4: 144,103,485 (GRCm39) C214S probably benign Het
Prmt2 T C 10: 76,058,302 (GRCm39) H169R probably benign Het
Rad51ap2 T A 12: 11,506,251 (GRCm39) S58T possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,230,925 (GRCm39) S217P probably benign Het
Slco1a8 C A 6: 141,939,363 (GRCm39) probably null Het
Snx27 G A 3: 94,426,416 (GRCm39) T361I probably damaging Het
St7l A G 3: 104,775,363 (GRCm39) T80A probably damaging Het
Stk32b T A 5: 37,689,031 (GRCm39) M98L possibly damaging Het
Tonsl C A 15: 76,508,350 (GRCm39) A6S possibly damaging Het
Tpx2 A G 2: 152,711,611 (GRCm39) R49G probably benign Het
Trmt2a A G 16: 18,067,758 (GRCm39) K144E possibly damaging Het
Trpm7 A C 2: 126,654,697 (GRCm39) L1414V probably benign Het
Ugdh T C 5: 65,580,939 (GRCm39) K107E possibly damaging Het
Vamp3 A T 4: 151,135,366 (GRCm39) probably benign Het
Vmn1r172 T C 7: 23,359,651 (GRCm39) S179P probably damaging Het
Vmn1r28 A G 6: 58,242,963 (GRCm39) M269V probably benign Het
Vmn2r94 T C 17: 18,464,476 (GRCm39) T605A probably benign Het
Vwce A G 19: 10,615,520 (GRCm39) T134A possibly damaging Het
Zfp277 T C 12: 40,495,745 (GRCm39) E5G 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
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
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'- TTAAAGTGGGAGGGCCTCTG -3'
(R):5'- CAATGCAGTGAGATCCACCC -3'

Sequencing Primer
(F):5'- CCTCTGATGGAGTTGGTGCC -3'
(R):5'- CACACACACTACCCTAACTTGC -3'
Posted On 2014-06-30