Incidental Mutation 'R5864:Wdsub1'
ID 454040
Institutional Source Beutler Lab
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 # R5864 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 59682708-59712935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59708819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 18 (C18Y)
Ref Sequence ENSEMBL: ENSMUSP00000099812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028368] [ENSMUST00000102751] [ENSMUST00000128671] [ENSMUST00000133809] [ENSMUST00000140475]
AlphaFold Q9D0I6
Predicted Effect probably damaging
Transcript: ENSMUST00000028368
AA Change: C18Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: C18Y

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: C18Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: C18Y

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 possibly damaging
Transcript: ENSMUST00000128671
AA Change: C18Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121242
Gene: ENSMUSG00000026988
AA Change: C18Y

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
Blast:WD40 169 194 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131285
Predicted Effect probably benign
Transcript: ENSMUST00000133809
SMART Domains Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988

DomainStartEndE-ValueType
WD40 7 46 1.5e-3 SMART
WD40 48 96 2.48e-4 SMART
WD40 106 145 6e-3 SMART
low complexity region 163 175 N/A INTRINSIC
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 possibly damaging
Transcript: ENSMUST00000140475
AA Change: C18Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114811
Gene: ENSMUSG00000026988
AA Change: C18Y

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
Blast:WD40 169 194 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140852
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 A T 12: 84,090,178 (GRCm39) I292F probably benign Het
Adamdec1 A G 14: 68,807,551 (GRCm39) S370P probably damaging Het
Ankar T C 1: 72,698,324 (GRCm39) K692R probably benign Het
Ano6 T C 15: 95,818,261 (GRCm39) probably null Het
Asns G A 6: 7,675,443 (GRCm39) Q520* probably null Het
Bbs12 C T 3: 37,373,639 (GRCm39) T144I probably damaging Het
C8g C T 2: 25,388,955 (GRCm39) G186D probably damaging Het
Clptm1l T C 13: 73,754,403 (GRCm39) F109S probably damaging Het
Coa8 G A 12: 111,717,652 (GRCm39) V171I probably benign Het
Col4a1 G A 8: 11,252,973 (GRCm39) probably benign Het
Cpn2 T C 16: 30,078,501 (GRCm39) D400G probably damaging Het
Dgke G C 11: 88,941,288 (GRCm39) Y298* probably null Het
Dnah5 G A 15: 28,297,159 (GRCm39) R1451Q possibly damaging Het
Dock8 A G 19: 25,038,584 (GRCm39) D90G probably damaging Het
Dok7 A C 5: 35,223,890 (GRCm39) D143A probably damaging Het
Elk3 G A 10: 93,120,653 (GRCm39) A62V probably damaging Het
Epha2 T A 4: 141,035,738 (GRCm39) M58K probably damaging Het
Erp27 G T 6: 136,885,098 (GRCm39) D233E probably benign Het
Gm5174 T A 10: 86,493,045 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,107 (GRCm39) D214G probably damaging Het
Hrob G A 11: 102,145,972 (GRCm39) E83K probably benign Het
Ifi35 A T 11: 101,349,069 (GRCm39) I238F probably damaging Het
Ighmbp2 T C 19: 3,311,467 (GRCm39) T983A probably benign Het
Itgb4 C T 11: 115,881,748 (GRCm39) R766W probably damaging Het
Lrp1 C A 10: 127,403,374 (GRCm39) K2066N possibly damaging Het
Mansc1 T G 6: 134,587,816 (GRCm39) probably null Het
Mapre3 T C 5: 31,020,582 (GRCm39) F101S probably damaging Het
Mettl8 T C 2: 70,812,357 (GRCm39) T58A probably benign Het
Mical1 G T 10: 41,362,064 (GRCm39) R857L possibly damaging Het
Nacad T C 11: 6,550,581 (GRCm39) D870G probably benign Het
Nectin1 A G 9: 43,702,607 (GRCm39) D118G probably damaging Het
Nlrp2 A T 7: 5,325,380 (GRCm39) L26Q probably damaging Het
Or10a3m A G 7: 108,312,671 (GRCm39) D25G probably benign Het
Pamr1 T C 2: 102,464,693 (GRCm39) S281P possibly damaging Het
Pcdhgc5 T A 18: 37,954,814 (GRCm39) V696E probably damaging Het
Pde4d G T 13: 110,074,582 (GRCm39) A396S probably benign Het
Pecam1 G T 11: 106,575,076 (GRCm39) C510* probably null Het
Pga5 C T 19: 10,652,513 (GRCm39) G76S probably damaging Het
Phldb3 A T 7: 24,323,571 (GRCm39) H435L possibly damaging Het
Piezo1 T C 8: 123,213,112 (GRCm39) R1884G possibly damaging Het
Ripk4 T C 16: 97,564,782 (GRCm39) H43R probably damaging Het
Rtn3 A G 19: 7,412,476 (GRCm39) V785A probably damaging Het
Safb2 A G 17: 56,873,491 (GRCm39) probably benign Het
Sephs1 T C 2: 4,910,393 (GRCm39) F288L probably damaging Het
Sez6l A G 5: 112,586,266 (GRCm39) probably null Het
Siglece A G 7: 43,308,741 (GRCm39) L204P probably damaging Het
Sis T C 3: 72,857,151 (GRCm39) D380G probably damaging Het
Slamf9 G T 1: 172,304,033 (GRCm39) R126L probably benign Het
Sorl1 A G 9: 42,003,669 (GRCm39) L209P probably damaging Het
Sptbn1 A C 11: 30,095,925 (GRCm39) I310S probably damaging Het
Tex52 A G 6: 128,356,645 (GRCm39) T113A probably benign Het
Trav6-3 T A 14: 53,667,628 (GRCm39) Y33* probably null Het
Vmn2r102 A G 17: 19,914,943 (GRCm39) E836G possibly damaging Het
Zfp341 C A 2: 154,485,474 (GRCm39) H637N possibly damaging Het
Zfp445 C T 9: 122,682,552 (GRCm39) S463N probably benign Het
Zfp612 G A 8: 110,816,358 (GRCm39) D522N probably damaging Het
Other mutations in Wdsub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02211:Wdsub1 APN 2 59,689,080 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAGCAATGGATCCATCGGC -3'
(R):5'- AAAACGGGACTTTTGTGGGG -3'

Sequencing Primer
(F):5'- CTGACGCTAGGTAGGCAGAGTC -3'
(R):5'- TGGGGTAGATTCTTTTTCTCAGAC -3'
Posted On 2017-02-10