Incidental Mutation 'R0011:Wscd1'
ID8026
Institutional Source Beutler Lab
Gene Symbol Wscd1
Ensembl Gene ENSMUSG00000020811
Gene NameWSC domain containing 1
Synonyms
MMRRC Submission 038306-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0011 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location71749920-71789647 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71788828 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 509 (V509A)
Ref Sequence ENSEMBL: ENSMUSP00000104151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021168] [ENSMUST00000108510] [ENSMUST00000108511]
Predicted Effect probably damaging
Transcript: ENSMUST00000021168
AA Change: V509A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021168
Gene: ENSMUSG00000020811
AA Change: V509A

DomainStartEndE-ValueType
transmembrane domain 17 36 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
WSC 139 231 8.72e-40 SMART
WSC 242 337 2.09e-28 SMART
Pfam:Sulfotransfer_1 413 525 1.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108510
AA Change: V509A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104150
Gene: ENSMUSG00000020811
AA Change: V509A

DomainStartEndE-ValueType
transmembrane domain 17 36 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
WSC 139 231 8.72e-40 SMART
WSC 242 337 2.09e-28 SMART
Pfam:Sulfotransfer_1 413 525 1.6e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108511
AA Change: V509A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104151
Gene: ENSMUSG00000020811
AA Change: V509A

DomainStartEndE-ValueType
transmembrane domain 17 36 N/A INTRINSIC
low complexity region 100 114 N/A INTRINSIC
WSC 139 231 8.72e-40 SMART
WSC 242 337 2.09e-28 SMART
Pfam:Sulfotransfer_1 413 525 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132095
Meta Mutation Damage Score 0.1323 question?
Coding Region Coverage
  • 1x: 78.3%
  • 3x: 67.8%
  • 10x: 41.6%
  • 20x: 22.3%
Validation Efficiency 92% (85/92)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,229,993 L389Q probably damaging Het
Ank3 A G 10: 69,979,451 probably benign Het
Art3 T A 5: 92,403,612 Y17N probably damaging Het
Asic3 C T 5: 24,417,492 probably benign Het
Brip1 C A 11: 86,186,998 K201N possibly damaging Het
Casc1 T A 6: 145,179,055 M515L probably damaging Het
Ccdc88a T C 11: 29,374,364 F6S probably damaging Het
Cfap54 A T 10: 93,065,225 C156S probably damaging Het
Chia1 A G 3: 106,130,974 probably benign Het
Cops4 C A 5: 100,527,981 Q28K probably benign Het
Epha7 G A 4: 28,962,564 D961N probably benign Het
Grin2c T C 11: 115,255,750 Y476C probably damaging Het
Igf2bp1 T C 11: 96,005,584 D17G probably damaging Het
Kidins220 T A 12: 24,999,352 V322E probably damaging Het
Krt35 T A 11: 100,093,676 Q331L probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mrc1 T C 2: 14,261,337 probably null Het
Msh2 T C 17: 87,680,093 probably benign Het
Ncoa1 A C 12: 4,322,896 F57L possibly damaging Het
Npy4r C T 14: 34,146,723 V203M probably damaging Het
Pcdhgb8 T C 18: 37,764,282 S802P probably benign Het
Ralgapa1 A G 12: 55,786,263 S152P probably damaging Het
Rasgef1b T C 5: 99,232,354 Y344C probably damaging Het
Rdh19 T A 10: 127,856,911 L149Q probably damaging Het
Shtn1 A G 19: 59,032,218 S191P possibly damaging Het
Tmem202 T A 9: 59,524,801 N81I probably benign Het
Trim58 A T 11: 58,643,120 T167S probably benign Het
Trp53i11 A T 2: 93,199,353 probably benign Het
Ttc30a2 T A 2: 75,976,217 R650S probably damaging Het
Ttn T C 2: 76,810,355 H5356R probably damaging Het
Tyrp1 C T 4: 80,840,793 T301I probably damaging Het
Wdr17 A T 8: 54,672,501 I448K possibly damaging Het
Zfp251 A G 15: 76,854,554 V108A probably benign Het
Other mutations in Wscd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Wscd1 APN 11 71788942 missense possibly damaging 0.89
IGL01982:Wscd1 APN 11 71766873 missense possibly damaging 0.94
IGL01991:Wscd1 APN 11 71787723 nonsense probably null
IGL02211:Wscd1 APN 11 71788975 missense probably damaging 1.00
R0011:Wscd1 UTSW 11 71788828 missense probably damaging 1.00
R0359:Wscd1 UTSW 11 71766866 missense probably damaging 1.00
R0371:Wscd1 UTSW 11 71788723 missense probably damaging 1.00
R1340:Wscd1 UTSW 11 71768760 missense probably benign 0.01
R1429:Wscd1 UTSW 11 71760174 missense probably damaging 0.99
R1511:Wscd1 UTSW 11 71788675 missense probably damaging 1.00
R1823:Wscd1 UTSW 11 71760218 missense probably benign 0.05
R4772:Wscd1 UTSW 11 71771976 critical splice donor site probably null
R4885:Wscd1 UTSW 11 71760146 missense probably damaging 1.00
R5221:Wscd1 UTSW 11 71768675 missense possibly damaging 0.53
R5714:Wscd1 UTSW 11 71784435 critical splice donor site probably null
R6351:Wscd1 UTSW 11 71759883 missense probably damaging 1.00
R7181:Wscd1 UTSW 11 71759883 missense probably damaging 1.00
R7184:Wscd1 UTSW 11 71788717 missense probably damaging 1.00
R7461:Wscd1 UTSW 11 71759973 missense possibly damaging 0.95
R7613:Wscd1 UTSW 11 71759973 missense possibly damaging 0.95
R7754:Wscd1 UTSW 11 71784365 missense probably damaging 1.00
R7875:Wscd1 UTSW 11 71788734 missense probably damaging 1.00
R7958:Wscd1 UTSW 11 71788734 missense probably damaging 1.00
Z1177:Wscd1 UTSW 11 71788800 nonsense probably null
Z1177:Wscd1 UTSW 11 71788985 missense not run
Posted On2012-11-20