Incidental Mutation 'R0381:Wscd2'
ID30968
Institutional Source Beutler Lab
Gene Symbol Wscd2
Ensembl Gene ENSMUSG00000063430
Gene NameWSC domain containing 2
Synonyms4933413A10Rik, C530024P05Rik
MMRRC Submission 038587-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0381 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location113490333-113589725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113551131 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 66 (L66Q)
Ref Sequence ENSEMBL: ENSMUSP00000092021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094452]
Predicted Effect probably damaging
Transcript: ENSMUST00000094452
AA Change: L66Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: L66Q

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
low complexity region 44 61 N/A INTRINSIC
WSC 133 225 6.11e-44 SMART
WSC 236 330 9.49e-41 SMART
Blast:WSC 389 409 2e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181650
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 46,108,434 V1297A possibly damaging Het
Agbl2 C T 2: 90,784,098 H25Y probably damaging Het
Akap11 A T 14: 78,513,550 W466R probably benign Het
BC048403 T C 10: 121,745,375 Y94H probably damaging Het
Ccdc66 T A 14: 27,491,933 Q471L probably damaging Het
Dennd1c G A 17: 57,073,822 A210V probably damaging Het
F13b A G 1: 139,510,859 K334E probably damaging Het
Fam186a A C 15: 99,942,174 I2063R probably damaging Het
Fcrl5 T C 3: 87,446,460 Y371H probably damaging Het
Fnbp1 C T 2: 31,033,029 G549D probably benign Het
Fndc3a A G 14: 72,556,627 Y869H probably benign Het
Gm7592 A G 1: 85,526,716 noncoding transcript Het
Gucy2d C A 7: 98,459,002 probably null Het
Hmcn1 C T 1: 150,603,811 C4634Y probably damaging Het
Kctd5 A G 17: 24,059,220 probably null Het
Mettl24 C A 10: 40,746,390 H203N probably damaging Het
Mitf A G 6: 97,993,143 E17G probably damaging Het
Mrc1 G A 2: 14,307,909 D881N probably benign Het
Mrm1 T C 11: 84,818,683 T183A possibly damaging Het
Mut T A 17: 40,937,258 W59R probably benign Het
Mylk G A 16: 34,784,974 probably null Het
Nab2 G A 10: 127,665,067 A19V probably damaging Het
Ntsr2 T A 12: 16,659,718 Y333* probably null Het
Sephs1 A G 2: 4,899,560 T250A probably benign Het
Sypl2 T C 3: 108,226,157 E32G possibly damaging Het
Tasp1 T C 2: 139,951,483 K258E probably damaging Het
Tcam1 G A 11: 106,284,078 E120K probably benign Het
Tenm4 G T 7: 96,905,881 V2561F probably damaging Het
Tmc1 T C 19: 20,799,045 Y650C probably damaging Het
Trim34b T C 7: 104,329,855 L103P probably damaging Het
Usp47 T C 7: 112,063,393 probably null Het
Vmn1r201 T A 13: 22,475,023 W136R probably damaging Het
Vmn2r104 A T 17: 20,048,002 Y68* probably null Het
Other mutations in Wscd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Wscd2 APN 5 113551175 missense possibly damaging 0.56
IGL01113:Wscd2 APN 5 113570739 missense probably damaging 1.00
IGL01476:Wscd2 APN 5 113572321 missense probably damaging 0.99
IGL01894:Wscd2 APN 5 113572296 missense probably damaging 0.96
IGL02560:Wscd2 APN 5 113560984 missense probably benign 0.01
IGL02755:Wscd2 APN 5 113574031 missense possibly damaging 0.66
R1144:Wscd2 UTSW 5 113561090 splice site probably null
R1858:Wscd2 UTSW 5 113551170 missense possibly damaging 0.63
R3695:Wscd2 UTSW 5 113551017 missense possibly damaging 0.82
R4231:Wscd2 UTSW 5 113560984 missense probably benign 0.00
R4232:Wscd2 UTSW 5 113560984 missense probably benign 0.00
R4667:Wscd2 UTSW 5 113577272 missense probably damaging 1.00
R4696:Wscd2 UTSW 5 113551179 missense probably benign
R5727:Wscd2 UTSW 5 113577350 missense possibly damaging 0.89
R6401:Wscd2 UTSW 5 113588145 makesense probably null
Predicted Primers PCR Primer
(F):5'- GGTTCAAGTTCCAGCGGTGTTTCC -3'
(R):5'- GCAACGAGACCAGTTTTGTGGC -3'

Sequencing Primer
(F):5'- CGGTATTTCCGCAGGAAGC -3'
(R):5'- ctcctcctccttttccttctc -3'
Posted On2013-04-24