Incidental Mutation 'R0011:Wscd1'
ID 63224
Institutional Source Beutler Lab
Gene Symbol Wscd1
Ensembl Gene ENSMUSG00000020811
Gene Name WSC domain containing 1
Synonyms
MMRRC Submission 038306-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0011 (G1)
Quality Score 155
Status Validated
Chromosome 11
Chromosomal Location 71640746-71680473 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71679654 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80XH4
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: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Alox15 A G 11: 70,240,422 (GRCm39) V253A possibly damaging Het
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Asic3 C T 5: 24,622,490 (GRCm39) probably benign Het
Bach2 G T 4: 32,244,655 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Cdcp3 T A 7: 130,831,722 (GRCm39) L389Q probably damaging Het
Celsr2 A G 3: 108,320,718 (GRCm39) I698T probably benign Het
Cenpf A G 1: 189,382,903 (GRCm39) S2664P probably benign Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Cops4 C A 5: 100,675,847 (GRCm39) Q28K probably benign Het
Cyb5a T A 18: 84,895,947 (GRCm39) probably benign Het
Diaph3 A T 14: 87,103,844 (GRCm39) C847S probably damaging Het
Dnah3 T C 7: 119,618,924 (GRCm39) K1648R probably damaging Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Emilin2 C T 17: 71,580,863 (GRCm39) G621E probably benign Het
Enpp1 T A 10: 24,545,900 (GRCm39) K228* probably null Het
Epg5 T C 18: 77,991,698 (GRCm39) C132R probably benign Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
G6pc2 C A 2: 69,056,909 (GRCm39) probably benign Het
Gm7361 C T 5: 26,463,876 (GRCm39) probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Hnrnpul1 T G 7: 25,442,340 (GRCm39) probably benign Het
Igf2bp1 T C 11: 95,896,410 (GRCm39) D17G probably damaging Het
Insrr T C 3: 87,716,923 (GRCm39) C688R possibly damaging Het
Itgb2l T C 16: 96,228,861 (GRCm39) probably benign Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Klk1 C T 7: 43,878,959 (GRCm39) T149I probably benign Het
Mbd3l1 A G 9: 18,395,863 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Mtr T C 13: 12,252,938 (GRCm39) probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Or8g52 T A 9: 39,630,923 (GRCm39) N133K probably benign Het
Pik3r4 C A 9: 105,521,836 (GRCm39) T134K probably benign Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Sema3e C T 5: 14,194,025 (GRCm39) R85* probably null Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Slc39a11 A T 11: 113,138,659 (GRCm39) F279L probably benign Het
Slc4a1 T C 11: 102,247,936 (GRCm39) K353E possibly damaging Het
Slc6a18 A T 13: 73,813,738 (GRCm39) M515K possibly damaging Het
Snapc4 A G 2: 26,254,825 (GRCm39) I1225T probably benign Het
Spidr A T 16: 15,784,467 (GRCm39) W534R probably benign Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Tnfrsf1b T G 4: 144,949,536 (GRCm39) R297S possibly damaging Het
Trim55 A G 3: 19,725,163 (GRCm39) T227A probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign Het
Other mutations in Wscd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00980:Wscd1 APN 11 71,679,768 (GRCm39) missense possibly damaging 0.89
IGL01982:Wscd1 APN 11 71,657,699 (GRCm39) missense possibly damaging 0.94
IGL01991:Wscd1 APN 11 71,678,549 (GRCm39) nonsense probably null
IGL02211:Wscd1 APN 11 71,679,801 (GRCm39) missense probably damaging 1.00
R0011:Wscd1 UTSW 11 71,679,654 (GRCm39) missense probably damaging 1.00
R0359:Wscd1 UTSW 11 71,657,692 (GRCm39) missense probably damaging 1.00
R0371:Wscd1 UTSW 11 71,679,549 (GRCm39) missense probably damaging 1.00
R1340:Wscd1 UTSW 11 71,659,586 (GRCm39) missense probably benign 0.01
R1429:Wscd1 UTSW 11 71,651,000 (GRCm39) missense probably damaging 0.99
R1511:Wscd1 UTSW 11 71,679,501 (GRCm39) missense probably damaging 1.00
R1823:Wscd1 UTSW 11 71,651,044 (GRCm39) missense probably benign 0.05
R4772:Wscd1 UTSW 11 71,662,802 (GRCm39) critical splice donor site probably null
R4885:Wscd1 UTSW 11 71,650,972 (GRCm39) missense probably damaging 1.00
R5221:Wscd1 UTSW 11 71,659,501 (GRCm39) missense possibly damaging 0.53
R5714:Wscd1 UTSW 11 71,675,261 (GRCm39) critical splice donor site probably null
R6351:Wscd1 UTSW 11 71,650,709 (GRCm39) missense probably damaging 1.00
R7181:Wscd1 UTSW 11 71,650,709 (GRCm39) missense probably damaging 1.00
R7184:Wscd1 UTSW 11 71,679,543 (GRCm39) missense probably damaging 1.00
R7461:Wscd1 UTSW 11 71,650,799 (GRCm39) missense possibly damaging 0.95
R7613:Wscd1 UTSW 11 71,650,799 (GRCm39) missense possibly damaging 0.95
R7754:Wscd1 UTSW 11 71,675,191 (GRCm39) missense probably damaging 1.00
R7875:Wscd1 UTSW 11 71,679,560 (GRCm39) missense probably damaging 1.00
R8804:Wscd1 UTSW 11 71,675,161 (GRCm39) missense probably damaging 1.00
R9103:Wscd1 UTSW 11 71,674,245 (GRCm39) critical splice donor site probably null
R9220:Wscd1 UTSW 11 71,662,750 (GRCm39) missense probably benign 0.01
R9359:Wscd1 UTSW 11 71,650,799 (GRCm39) missense possibly damaging 0.95
R9473:Wscd1 UTSW 11 71,679,644 (GRCm39) missense probably damaging 1.00
Z1177:Wscd1 UTSW 11 71,679,811 (GRCm39) missense probably damaging 0.98
Z1177:Wscd1 UTSW 11 71,679,626 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAGACGTTCTAAAACTGGCAGCAC -3'
(R):5'- GCATCTCAGCAGGAGCAGGAAATC -3'

Sequencing Primer
(F):5'- GCCATGAGAGGTAATCCTGACTC -3'
(R):5'- GGCCTATCATCTGGGCACATAC -3'
Posted On 2013-07-30