Incidental Mutation 'IGL00323:Wscd2'
ID14874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wscd2
Ensembl Gene ENSMUSG00000063430
Gene NameWSC domain containing 2
Synonyms4933413A10Rik, C530024P05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00323
Quality Score
Status
Chromosome5
Chromosomal Location113490333-113589725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 113551175 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Proline at position 81 (T81P)
Ref Sequence ENSEMBL: ENSMUSP00000092021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094452]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094452
AA Change: T81P

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: T81P

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 T C 14: 49,073,790 Y106H probably damaging Het
Atrnl1 C A 19: 57,691,817 N716K probably benign Het
Cdk13 A T 13: 17,721,098 N1075K possibly damaging Het
Daam1 G A 12: 71,958,743 probably benign Het
Exd2 T C 12: 80,476,166 V133A probably damaging Het
Fam58b A G 11: 78,750,956 V236A probably benign Het
Glrb T C 3: 80,861,955 D155G probably damaging Het
Gm13941 T A 2: 111,104,853 M11L unknown Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Inpp5d G T 1: 87,683,815 V329F probably benign Het
Lilr4b A T 10: 51,481,251 D61V probably benign Het
Malt1 T A 18: 65,448,963 C299* probably null Het
Olfr1306 A T 2: 111,912,036 M298K possibly damaging Het
Olfr1408 G A 1: 173,130,411 Q269* probably null Het
Pigk C A 3: 152,747,632 S282* probably null Het
Pik3r1 T A 13: 101,690,536 M1L probably benign Het
Pnpla1 A G 17: 28,877,442 Y165C probably damaging Het
Rfx7 A G 9: 72,617,420 N631D probably damaging Het
Rp1 T A 1: 4,346,746 D1381V probably damaging Het
Rrp8 T C 7: 105,733,016 probably benign Het
Scn4a A T 11: 106,319,919 D1757E probably benign Het
Sec62 T C 3: 30,810,442 probably benign Het
Smarca5 G A 8: 80,714,041 T598M probably benign Het
Sptbn5 T C 2: 120,054,467 probably benign Het
Srcap T C 7: 127,542,713 probably benign Het
Stab1 T A 14: 31,139,306 E71D probably benign Het
Trhde A T 10: 114,486,747 S716R possibly damaging Het
Ttn T C 2: 76,896,515 probably benign Het
Zfp335 G A 2: 164,892,382 T1295I probably damaging Het
Other mutations in Wscd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0381:Wscd2 UTSW 5 113551131 missense probably damaging 0.96
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
R7413:Wscd2 UTSW 5 113577341 missense probably benign 0.02
R7642:Wscd2 UTSW 5 113577414 missense possibly damaging 0.67
R7837:Wscd2 UTSW 5 113572333 missense probably damaging 1.00
R7920:Wscd2 UTSW 5 113572333 missense probably damaging 1.00
R8046:Wscd2 UTSW 5 113551115 missense probably benign 0.05
Posted On2012-12-06