Incidental Mutation 'IGL02211:Wdsub1'
ID284725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdsub1
Ensembl Gene ENSMUSG00000026988
Gene NameWD repeat, SAM and U-box domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02211
Quality Score
Status
Chromosome2
Chromosomal Location59852364-59882591 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 59858736 bp
ZygosityHeterozygous
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]
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: 46,233,215 probably benign Het
Atp8a2 C T 14: 60,027,976 G304R probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cct4 A G 11: 22,993,327 probably benign Het
Cd28 T C 1: 60,762,994 V24A probably damaging Het
Cfap70 T C 14: 20,394,972 N1080S probably damaging Het
Cpa6 A T 1: 10,595,636 I59K possibly damaging Het
Cramp1l A G 17: 24,977,636 S835P possibly damaging Het
Crim1 T C 17: 78,355,145 L799S probably damaging Het
Cxcl16 T C 11: 70,456,032 H95R possibly damaging Het
Dip2c T A 13: 9,610,847 C915S probably damaging Het
Dytn T A 1: 63,674,930 N137Y possibly damaging Het
Exoc5 T A 14: 49,014,210 Q628L probably damaging Het
Flii A G 11: 60,718,298 probably benign Het
Hnrnph3 A T 10: 63,017,342 probably benign Het
Iqsec1 A G 6: 90,671,609 L830P probably damaging Het
Kank1 G T 19: 25,430,338 G1232V probably damaging Het
Kcnmb2 A G 3: 32,198,334 E228G probably damaging Het
Limk1 A T 5: 134,657,637 V538E probably damaging Het
Mmp20 T A 9: 7,655,070 I393K probably damaging Het
Mtmr1 A G X: 71,412,257 D574G possibly damaging Het
Nr1h2 A C 7: 44,550,460 M345R probably damaging Het
Nyap1 T C 5: 137,739,675 H15R probably damaging Het
Olfr316 G T 11: 58,758,370 S235I possibly damaging Het
Olfr652 A T 7: 104,565,126 K302* probably null Het
Pde4b T G 4: 102,590,822 probably benign Het
Pgrmc2 A G 3: 41,082,633 V121A probably damaging Het
Ptges3 T C 10: 128,076,058 probably benign Het
Ranbp2 T C 10: 58,478,242 S1595P probably benign Het
Rhbdf2 A G 11: 116,600,435 F625L possibly damaging Het
Rhpn1 T C 15: 75,711,056 S281P possibly damaging Het
Samd3 G T 10: 26,233,557 G128W probably damaging Het
Sept5 T C 16: 18,624,879 K51E probably damaging Het
Serpina7 G A X: 139,081,313 T185I probably damaging Het
Slc25a25 A G 2: 32,417,440 V303A probably damaging Het
Slc5a4b A T 10: 76,060,463 probably benign Het
Srpk3 A T X: 73,775,148 H114L probably benign Het
Sybu T G 15: 44,673,466 Q360P probably damaging Het
Vmn1r179 A T 7: 23,929,205 I274F probably benign Het
Wscd1 G A 11: 71,788,975 R558H probably damaging Het
Other mutations in Wdsub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Wdsub1 APN 2 59852832 missense probably damaging 0.99
IGL02984:Wdsub1 UTSW 2 59876829 missense probably damaging 1.00
R0116:Wdsub1 UTSW 2 59876665 unclassified probably null
R0504:Wdsub1 UTSW 2 59878325 missense possibly damaging 0.93
R1437:Wdsub1 UTSW 2 59878133 missense probably damaging 0.98
R1452:Wdsub1 UTSW 2 59876800 missense probably null
R1566:Wdsub1 UTSW 2 59876715 missense probably damaging 1.00
R1767:Wdsub1 UTSW 2 59858714 missense probably damaging 1.00
R2938:Wdsub1 UTSW 2 59873286 missense possibly damaging 0.68
R4209:Wdsub1 UTSW 2 59876805 missense probably damaging 1.00
R4583:Wdsub1 UTSW 2 59878317 missense probably damaging 1.00
R4794:Wdsub1 UTSW 2 59862844 missense possibly damaging 0.78
R4803:Wdsub1 UTSW 2 59870399 intron probably benign
R4987:Wdsub1 UTSW 2 59870393 intron probably benign
R4989:Wdsub1 UTSW 2 59870414 intron probably benign
R5311:Wdsub1 UTSW 2 59878529 utr 5 prime probably benign
R5402:Wdsub1 UTSW 2 59870478 missense probably benign
R5408:Wdsub1 UTSW 2 59861543 unclassified probably benign
R5572:Wdsub1 UTSW 2 59862707 missense possibly damaging 0.95
R5681:Wdsub1 UTSW 2 59852895 missense probably damaging 1.00
R5864:Wdsub1 UTSW 2 59878475 missense probably damaging 1.00
R6582:Wdsub1 UTSW 2 59878308 missense probably damaging 1.00
R6638:Wdsub1 UTSW 2 59870441 intron probably benign
R6678:Wdsub1 UTSW 2 59862631 missense probably benign 0.45
R6842:Wdsub1 UTSW 2 59878188 missense probably benign 0.09
R6907:Wdsub1 UTSW 2 59861684 missense possibly damaging 0.59
R7041:Wdsub1 UTSW 2 59852880 missense probably damaging 1.00
R7288:Wdsub1 UTSW 2 59878143 missense possibly damaging 0.50
R7769:Wdsub1 UTSW 2 59878419 missense probably damaging 1.00
X0023:Wdsub1 UTSW 2 59876754 missense probably damaging 1.00
Posted On2015-04-16