Incidental Mutation 'IGL01113:Wscd2'
ID 51128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wscd2
Ensembl Gene ENSMUSG00000063430
Gene Name WSC domain containing 2
Synonyms 4933413A10Rik, C530024P05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01113
Quality Score
Status
Chromosome 5
Chromosomal Location 113638199-113727786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113708800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 268 (V268A)
Ref Sequence ENSEMBL: ENSMUSP00000092021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094452]
AlphaFold D4PHA7
Predicted Effect probably damaging
Transcript: ENSMUST00000094452
AA Change: V268A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: V268A

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: ENSMUST00000181294
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544L04Rik A G 7: 134,998,871 (GRCm39) noncoding transcript Het
Adam34l T C 8: 44,079,189 (GRCm39) H345R probably damaging Het
Adgrv1 A T 13: 81,637,147 (GRCm39) F3431L probably benign Het
Adk A G 14: 21,142,461 (GRCm39) N21S probably damaging Het
Cacna2d3 A G 14: 29,022,688 (GRCm39) probably benign Het
Camk2d C A 3: 126,574,061 (GRCm39) A156E probably damaging Het
Ccdc171 G T 4: 83,580,047 (GRCm39) W598L probably damaging Het
Cep85 C T 4: 133,876,072 (GRCm39) V445I possibly damaging Het
Cftr A G 6: 18,270,252 (GRCm39) Y814C probably damaging Het
Dctn1 T C 6: 83,156,879 (GRCm39) S9P probably benign Het
Dmxl1 A G 18: 50,045,818 (GRCm39) K2409R probably benign Het
Dnaaf1 T A 8: 120,309,317 (GRCm39) I135N probably damaging Het
Eif3d G A 15: 77,847,515 (GRCm39) T241M probably damaging Het
Etv1 T C 12: 38,831,791 (GRCm39) probably benign Het
Gdpd3 C A 7: 126,366,997 (GRCm39) S182R probably benign Het
Gm12888 C A 4: 121,175,521 (GRCm39) C87F probably damaging Het
Gml C A 15: 74,685,576 (GRCm39) M136I probably benign Het
Habp2 A G 19: 56,298,548 (GRCm39) T137A probably benign Het
Igkv6-25 C T 6: 70,192,772 (GRCm39) P60S possibly damaging Het
Mak A T 13: 41,195,619 (GRCm39) W396R probably damaging Het
Mast4 C A 13: 102,910,744 (GRCm39) C441F probably damaging Het
Medag T C 5: 149,353,372 (GRCm39) I189T probably benign Het
Myh1 A G 11: 67,093,006 (GRCm39) T71A probably benign Het
Nin G T 12: 70,078,553 (GRCm39) L1678M probably damaging Het
Nol6 T C 4: 41,115,749 (GRCm39) D1081G probably damaging Het
Or1j4 A T 2: 36,740,631 (GRCm39) D191V probably damaging Het
Or6f1 A T 7: 85,970,361 (GRCm39) D266E probably benign Het
Ppp1r10 T A 17: 36,240,451 (GRCm39) N580K probably damaging Het
Rpgrip1l T C 8: 91,987,367 (GRCm39) probably benign Het
Serpinb3a G A 1: 106,978,789 (GRCm39) Q57* probably null Het
Thumpd3 T C 6: 113,037,021 (GRCm39) S307P probably benign Het
Upf1 A C 8: 70,790,934 (GRCm39) D577E probably benign Het
Vmn2r99 T C 17: 19,614,518 (GRCm39) V746A probably benign Het
Other mutations in Wscd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Wscd2 APN 5 113,689,236 (GRCm39) missense possibly damaging 0.56
IGL01476:Wscd2 APN 5 113,710,382 (GRCm39) missense probably damaging 0.99
IGL01894:Wscd2 APN 5 113,710,357 (GRCm39) missense probably damaging 0.96
IGL02560:Wscd2 APN 5 113,699,045 (GRCm39) missense probably benign 0.01
IGL02755:Wscd2 APN 5 113,712,092 (GRCm39) missense possibly damaging 0.66
froggie UTSW 5 113,726,206 (GRCm39) makesense probably null
R0381:Wscd2 UTSW 5 113,689,192 (GRCm39) missense probably damaging 0.96
R1144:Wscd2 UTSW 5 113,699,151 (GRCm39) splice site probably null
R1858:Wscd2 UTSW 5 113,689,231 (GRCm39) missense possibly damaging 0.63
R3695:Wscd2 UTSW 5 113,689,078 (GRCm39) missense possibly damaging 0.82
R4231:Wscd2 UTSW 5 113,699,045 (GRCm39) missense probably benign 0.00
R4232:Wscd2 UTSW 5 113,699,045 (GRCm39) missense probably benign 0.00
R4667:Wscd2 UTSW 5 113,715,333 (GRCm39) missense probably damaging 1.00
R4696:Wscd2 UTSW 5 113,689,240 (GRCm39) missense probably benign
R5727:Wscd2 UTSW 5 113,715,411 (GRCm39) missense possibly damaging 0.89
R6401:Wscd2 UTSW 5 113,726,206 (GRCm39) makesense probably null
R7413:Wscd2 UTSW 5 113,715,402 (GRCm39) missense probably benign 0.02
R7642:Wscd2 UTSW 5 113,715,475 (GRCm39) missense possibly damaging 0.67
R7837:Wscd2 UTSW 5 113,710,394 (GRCm39) missense probably damaging 1.00
R8046:Wscd2 UTSW 5 113,689,176 (GRCm39) missense probably benign 0.05
R8331:Wscd2 UTSW 5 113,688,996 (GRCm39) start codon destroyed probably null 0.99
R8348:Wscd2 UTSW 5 113,710,371 (GRCm39) missense possibly damaging 0.89
R8680:Wscd2 UTSW 5 113,712,235 (GRCm39) missense probably damaging 1.00
R8928:Wscd2 UTSW 5 113,715,401 (GRCm39) missense possibly damaging 0.90
R9125:Wscd2 UTSW 5 113,715,417 (GRCm39) missense probably benign 0.33
Posted On 2013-06-21