Incidental Mutation 'IGL02211:Wdsub1'
ID 284725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdsub1
Ensembl Gene ENSMUSG00000026988
Gene Name WD repeat, SAM and U-box domain containing 1
Synonyms 2610014F08Rik, 1700048E19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL02211
Quality Score
Status
Chromosome 2
Chromosomal Location 59682708-59712935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 59689080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 381 (R381S)
Ref Sequence ENSEMBL: ENSMUSP00000028368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028368] [ENSMUST00000102751]
AlphaFold Q9D0I6
Predicted Effect probably damaging
Transcript: ENSMUST00000028368
AA Change: R381S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: R381S

DomainStartEndE-ValueType
WD40 1 38 7.85e-7 SMART
WD40 43 82 1.96e-7 SMART
WD40 85 125 5.47e-6 SMART
WD40 128 167 1.5e-3 SMART
WD40 169 217 2.48e-4 SMART
WD40 227 266 4.91e-8 SMART
WD40 269 308 7.05e-9 SMART
SAM 327 394 1.12e-15 SMART
Ubox 405 468 1.69e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102751
AA Change: R381S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: R381S

DomainStartEndE-ValueType
WD40 1 38 7.85e-7 SMART
WD40 43 82 1.96e-7 SMART
WD40 85 125 5.47e-6 SMART
WD40 128 167 1.5e-3 SMART
WD40 169 217 2.48e-4 SMART
WD40 227 266 4.91e-8 SMART
WD40 269 308 7.05e-9 SMART
SAM 327 394 1.12e-15 SMART
Pfam:U-box 402 423 9.3e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138519
Predicted Effect probably benign
Transcript: ENSMUST00000139689
SMART Domains Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988

DomainStartEndE-ValueType
WD40 1 32 4.28e0 SMART
WD40 34 82 2.48e-4 SMART
WD40 92 131 4.91e-8 SMART
WD40 134 173 7.05e-9 SMART
Pfam:SAM_2 193 241 5.3e-10 PFAM
Pfam:SAM_1 194 241 2.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144823
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoc3 C A 9: 46,144,513 (GRCm39) probably benign Het
Atp8a2 C T 14: 60,265,425 (GRCm39) G304R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cct4 A G 11: 22,943,327 (GRCm39) probably benign Het
Cd28 T C 1: 60,802,153 (GRCm39) V24A probably damaging Het
Cfap70 T C 14: 20,445,040 (GRCm39) N1080S probably damaging Het
Cpa6 A T 1: 10,665,861 (GRCm39) I59K possibly damaging Het
Cramp1 A G 17: 25,196,610 (GRCm39) S835P possibly damaging Het
Crim1 T C 17: 78,662,574 (GRCm39) L799S probably damaging Het
Cxcl16 T C 11: 70,346,858 (GRCm39) H95R possibly damaging Het
Dip2c T A 13: 9,660,883 (GRCm39) C915S probably damaging Het
Dytn T A 1: 63,714,089 (GRCm39) N137Y possibly damaging Het
Exoc5 T A 14: 49,251,667 (GRCm39) Q628L probably damaging Het
Flii A G 11: 60,609,124 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,853,121 (GRCm39) probably benign Het
Iqsec1 A G 6: 90,648,591 (GRCm39) L830P probably damaging Het
Kank1 G T 19: 25,407,702 (GRCm39) G1232V probably damaging Het
Kcnmb2 A G 3: 32,252,483 (GRCm39) E228G probably damaging Het
Limk1 A T 5: 134,686,491 (GRCm39) V538E probably damaging Het
Mmp20 T A 9: 7,655,071 (GRCm39) I393K probably damaging Het
Mtmr1 A G X: 70,455,863 (GRCm39) D574G possibly damaging Het
Nr1h2 A C 7: 44,199,884 (GRCm39) M345R probably damaging Het
Nyap1 T C 5: 137,737,937 (GRCm39) H15R probably damaging Het
Or2ak4 G T 11: 58,649,196 (GRCm39) S235I possibly damaging Het
Or52h7 A T 7: 104,214,333 (GRCm39) K302* probably null Het
Pde4b T G 4: 102,448,019 (GRCm39) probably benign Het
Pgrmc2 A G 3: 41,037,068 (GRCm39) V121A probably damaging Het
Ptges3 T C 10: 127,911,927 (GRCm39) probably benign Het
Ranbp2 T C 10: 58,314,064 (GRCm39) S1595P probably benign Het
Rhbdf2 A G 11: 116,491,261 (GRCm39) F625L possibly damaging Het
Rhpn1 T C 15: 75,582,905 (GRCm39) S281P possibly damaging Het
Samd3 G T 10: 26,109,455 (GRCm39) G128W probably damaging Het
Septin5 T C 16: 18,443,629 (GRCm39) K51E probably damaging Het
Serpina7 G A X: 137,982,062 (GRCm39) T185I probably damaging Het
Slc25a25 A G 2: 32,307,452 (GRCm39) V303A probably damaging Het
Slc5a4b A T 10: 75,896,297 (GRCm39) probably benign Het
Srpk3 A T X: 72,818,754 (GRCm39) H114L probably benign Het
Sybu T G 15: 44,536,862 (GRCm39) Q360P probably damaging Het
Vmn1r179 A T 7: 23,628,630 (GRCm39) I274F probably benign Het
Wscd1 G A 11: 71,679,801 (GRCm39) R558H probably damaging Het
Other mutations in Wdsub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Wdsub1 APN 2 59,683,176 (GRCm39) missense probably damaging 0.99
IGL02984:Wdsub1 UTSW 2 59,707,173 (GRCm39) missense probably damaging 1.00
R0116:Wdsub1 UTSW 2 59,707,009 (GRCm39) splice site probably null
R0504:Wdsub1 UTSW 2 59,708,669 (GRCm39) missense possibly damaging 0.93
R1437:Wdsub1 UTSW 2 59,708,477 (GRCm39) missense probably damaging 0.98
R1452:Wdsub1 UTSW 2 59,707,144 (GRCm39) missense probably null
R1566:Wdsub1 UTSW 2 59,707,059 (GRCm39) missense probably damaging 1.00
R1767:Wdsub1 UTSW 2 59,689,058 (GRCm39) missense probably damaging 1.00
R2938:Wdsub1 UTSW 2 59,703,630 (GRCm39) missense possibly damaging 0.68
R4209:Wdsub1 UTSW 2 59,707,149 (GRCm39) missense probably damaging 1.00
R4583:Wdsub1 UTSW 2 59,708,661 (GRCm39) missense probably damaging 1.00
R4794:Wdsub1 UTSW 2 59,693,188 (GRCm39) missense possibly damaging 0.78
R4803:Wdsub1 UTSW 2 59,700,743 (GRCm39) intron probably benign
R4987:Wdsub1 UTSW 2 59,700,737 (GRCm39) intron probably benign
R4989:Wdsub1 UTSW 2 59,700,758 (GRCm39) intron probably benign
R5311:Wdsub1 UTSW 2 59,708,873 (GRCm39) utr 5 prime probably benign
R5402:Wdsub1 UTSW 2 59,700,822 (GRCm39) missense probably benign
R5408:Wdsub1 UTSW 2 59,691,887 (GRCm39) unclassified probably benign
R5572:Wdsub1 UTSW 2 59,693,051 (GRCm39) missense possibly damaging 0.95
R5681:Wdsub1 UTSW 2 59,683,239 (GRCm39) missense probably damaging 1.00
R5864:Wdsub1 UTSW 2 59,708,819 (GRCm39) missense probably damaging 1.00
R6582:Wdsub1 UTSW 2 59,708,652 (GRCm39) missense probably damaging 1.00
R6638:Wdsub1 UTSW 2 59,700,785 (GRCm39) intron probably benign
R6678:Wdsub1 UTSW 2 59,692,975 (GRCm39) missense probably benign 0.45
R6842:Wdsub1 UTSW 2 59,708,532 (GRCm39) missense probably benign 0.09
R6907:Wdsub1 UTSW 2 59,692,028 (GRCm39) missense possibly damaging 0.59
R7041:Wdsub1 UTSW 2 59,683,224 (GRCm39) missense probably damaging 1.00
R7288:Wdsub1 UTSW 2 59,708,487 (GRCm39) missense possibly damaging 0.50
R7769:Wdsub1 UTSW 2 59,708,763 (GRCm39) missense probably damaging 1.00
R7942:Wdsub1 UTSW 2 59,707,061 (GRCm39) missense probably damaging 1.00
R8291:Wdsub1 UTSW 2 59,693,018 (GRCm39) missense probably damaging 1.00
R8309:Wdsub1 UTSW 2 59,704,578 (GRCm39) unclassified probably benign
R8458:Wdsub1 UTSW 2 59,692,045 (GRCm39) missense probably benign 0.00
R8775:Wdsub1 UTSW 2 59,693,014 (GRCm39) missense probably damaging 1.00
R8775-TAIL:Wdsub1 UTSW 2 59,693,014 (GRCm39) missense probably damaging 1.00
R8997:Wdsub1 UTSW 2 59,688,977 (GRCm39) missense probably damaging 1.00
X0023:Wdsub1 UTSW 2 59,707,098 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16