Incidental Mutation 'R7121:Wsb2'
ID 551999
Institutional Source Beutler Lab
Gene Symbol Wsb2
Ensembl Gene ENSMUSG00000029364
Gene Name WD repeat and SOCS box-containing 2
Synonyms
MMRRC Submission 045210-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7121 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 117495370-117516666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117508944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 126 (L126P)
Ref Sequence ENSEMBL: ENSMUSP00000107590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031309] [ENSMUST00000111959]
AlphaFold O54929
Predicted Effect probably damaging
Transcript: ENSMUST00000031309
AA Change: L124P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031309
Gene: ENSMUSG00000029364
AA Change: L124P

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
Blast:WD40 17 54 5e-17 BLAST
WD40 81 139 3.57e0 SMART
WD40 142 182 1.43e-9 SMART
WD40 186 225 1.59e-7 SMART
WD40 228 267 7.16e-10 SMART
WD40 270 321 6.53e-4 SMART
WD40 324 361 6.42e-1 SMART
SOCS 360 403 5.56e-17 SMART
SOCS_box 366 402 1.16e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111959
AA Change: L126P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107590
Gene: ENSMUSG00000029364
AA Change: L126P

DomainStartEndE-ValueType
low complexity region 4 17 N/A INTRINSIC
Blast:WD40 18 56 7e-18 BLAST
WD40 83 141 3.57e0 SMART
WD40 144 184 1.43e-9 SMART
WD40 188 227 1.59e-7 SMART
WD40 230 269 7.16e-10 SMART
WD40 272 323 6.53e-4 SMART
WD40 326 363 6.42e-1 SMART
SOCS 362 405 5.56e-17 SMART
SOCS_box 368 404 1.16e-6 SMART
Meta Mutation Damage Score 0.2674 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik C T 19: 42,041,112 (GRCm39) A81V probably benign Het
Abcc9 A T 6: 142,634,853 (GRCm39) L137* probably null Het
Akap10 A G 11: 61,777,524 (GRCm39) probably null Het
Alms1 T A 6: 85,601,604 (GRCm39) Y1683N probably damaging Het
Atl1 A G 12: 69,978,408 (GRCm39) S127G probably damaging Het
Cadm1 G A 9: 47,710,708 (GRCm39) V204M probably damaging Het
Cbr3 T A 16: 93,487,438 (GRCm39) I207N probably damaging Het
Ccdc148 A T 2: 58,717,579 (GRCm39) Y475N probably damaging Het
Ccdc33 A T 9: 57,988,167 (GRCm39) S144T probably benign Het
Ceacam5 C A 7: 17,479,462 (GRCm39) A193E probably benign Het
Chd2 T C 7: 73,119,418 (GRCm39) D1042G probably benign Het
Chmp5 A T 4: 40,952,217 (GRCm39) probably null Het
Clca3a1 T A 3: 144,717,567 (GRCm39) N467I probably damaging Het
D130040H23Rik T C 8: 69,754,931 (GRCm39) V112A probably damaging Het
Dbh A T 2: 27,058,318 (GRCm39) D162V probably damaging Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Dnm2 C T 9: 21,385,862 (GRCm39) T295I probably benign Het
Faiml A C 9: 99,116,446 (GRCm39) D81E probably benign Het
Fer1l4 T A 2: 155,886,477 (GRCm39) Y720F probably benign Het
Fn1 A C 1: 71,639,697 (GRCm39) probably benign Het
Ftsj3 T C 11: 106,143,123 (GRCm39) E397G probably damaging Het
Gm16506 T C 14: 43,964,817 (GRCm39) K42E Het
Gpr179 A G 11: 97,225,556 (GRCm39) S2200P probably benign Het
Gusb T C 5: 130,028,884 (GRCm39) D202G probably benign Het
Hspe1 A G 1: 55,128,310 (GRCm39) E35G probably damaging Het
Kptn T A 7: 15,857,023 (GRCm39) H170Q probably damaging Het
Lama3 G A 18: 12,595,839 (GRCm39) A923T probably benign Het
Lmo7 T A 14: 102,124,471 (GRCm39) I432K probably damaging Het
Maneal G A 4: 124,750,905 (GRCm39) P284S probably benign Het
Mrgbp A G 2: 180,224,682 (GRCm39) T28A probably benign Het
Myo1h T C 5: 114,476,290 (GRCm39) V493A Het
Naxd T C 8: 11,556,745 (GRCm39) L122P probably damaging Het
Neto2 T C 8: 86,397,020 (GRCm39) probably null Het
Obscn T A 11: 58,904,078 (GRCm39) R7299* probably null Het
Odf2l G A 3: 144,845,581 (GRCm39) V363I possibly damaging Het
Or2g25 T C 17: 37,970,699 (GRCm39) H175R probably damaging Het
Or2t35 A G 14: 14,407,998 (GRCm38) T257A possibly damaging Het
Or4c100 A T 2: 88,356,170 (GRCm39) D81V probably damaging Het
Or52a5b A T 7: 103,416,940 (GRCm39) Y221* probably null Het
Or5b105 T A 19: 13,080,537 (GRCm39) I44F probably benign Het
Otud3 G A 4: 138,624,067 (GRCm39) P325L probably benign Het
Palb2 T C 7: 121,724,057 (GRCm39) N564S probably benign Het
Pcnt A G 10: 76,263,761 (GRCm39) V401A possibly damaging Het
Plcd4 G A 1: 74,604,524 (GRCm39) E767K probably benign Het
Ppp3ca T C 3: 136,574,387 (GRCm39) F95S probably damaging Het
Prkar2a A G 9: 108,569,821 (GRCm39) T56A probably benign Het
Psma2 T A 13: 14,799,815 (GRCm39) D186E probably benign Het
Psmd11 T A 11: 80,329,099 (GRCm39) Y72* probably null Het
Ror1 G A 4: 100,160,142 (GRCm39) D53N probably benign Het
Rubcn C T 16: 32,656,839 (GRCm39) R527Q probably damaging Het
Sgca G A 11: 94,860,373 (GRCm39) P255S possibly damaging Het
Skint11 A T 4: 114,084,993 (GRCm39) R167S probably benign Het
Slco5a1 A G 1: 13,060,661 (GRCm39) V20A probably benign Het
Snai2 T C 16: 14,524,970 (GRCm39) S159P probably benign Het
Taar2 T G 10: 23,816,725 (GRCm39) S88R probably damaging Het
Tacc3 T A 5: 33,824,509 (GRCm39) N378K possibly damaging Het
Tek A G 4: 94,699,647 (GRCm39) K342E probably benign Het
Tm9sf3 G T 19: 41,233,944 (GRCm39) S198* probably null Het
Tmbim4 T A 10: 120,051,514 (GRCm39) F56I possibly damaging Het
Tsen34 T A 7: 3,697,986 (GRCm39) S85T probably benign Het
Ttc27 C A 17: 75,054,710 (GRCm39) Q339K probably benign Het
Ubap2 G T 4: 41,205,550 (GRCm39) P636T probably benign Het
Ubr1 G A 2: 120,705,979 (GRCm39) L1495F probably benign Het
Vsig10 T C 5: 117,481,967 (GRCm39) S386P probably damaging Het
Wnk2 C A 13: 49,300,653 (GRCm39) R19L probably benign Het
Xylb A G 9: 119,211,358 (GRCm39) I402V probably benign Het
Yrdc A G 4: 124,744,748 (GRCm39) S61G probably benign Het
Zbtb3 A G 19: 8,780,771 (GRCm39) D128G probably damaging Het
Zfp423 C T 8: 88,507,489 (GRCm39) G952R probably damaging Het
Zfp646 A G 7: 127,478,944 (GRCm39) T374A possibly damaging Het
Other mutations in Wsb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01446:Wsb2 APN 5 117,509,229 (GRCm39) missense probably damaging 0.97
IGL03201:Wsb2 APN 5 117,514,620 (GRCm39) missense possibly damaging 0.94
R0124:Wsb2 UTSW 5 117,501,823 (GRCm39) missense probably benign
R0479:Wsb2 UTSW 5 117,514,744 (GRCm39) splice site probably benign
R1148:Wsb2 UTSW 5 117,508,742 (GRCm39) splice site probably benign
R2002:Wsb2 UTSW 5 117,508,798 (GRCm39) missense probably benign 0.01
R4394:Wsb2 UTSW 5 117,501,643 (GRCm39) splice site probably benign
R4942:Wsb2 UTSW 5 117,515,550 (GRCm39) missense probably damaging 1.00
R5788:Wsb2 UTSW 5 117,515,483 (GRCm39) missense possibly damaging 0.82
R5951:Wsb2 UTSW 5 117,515,600 (GRCm39) missense probably damaging 1.00
R6564:Wsb2 UTSW 5 117,508,625 (GRCm39) splice site probably null
R7155:Wsb2 UTSW 5 117,509,160 (GRCm39) missense probably damaging 1.00
R7330:Wsb2 UTSW 5 117,508,827 (GRCm39) missense probably damaging 1.00
R7768:Wsb2 UTSW 5 117,501,787 (GRCm39) missense probably benign 0.29
R8377:Wsb2 UTSW 5 117,514,766 (GRCm39) missense possibly damaging 0.82
R8884:Wsb2 UTSW 5 117,508,769 (GRCm39) missense probably benign 0.08
R9185:Wsb2 UTSW 5 117,501,736 (GRCm39) missense possibly damaging 0.92
Z1088:Wsb2 UTSW 5 117,515,571 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATTCGAAGCCAAGAGCC -3'
(R):5'- GTCTTGGTGGCCAGAAAGATTC -3'

Sequencing Primer
(F):5'- GCCGAAGCAGCAAGAATGACC -3'
(R):5'- CTTGGTGGCCAGAAAGATTCAGAAG -3'
Posted On 2019-05-15