Incidental Mutation 'R4209:Wdsub1'
ID 319053
Institutional Source Beutler Lab
Gene Symbol Wdsub1
Ensembl Gene ENSMUSG00000026988
Gene Name WD repeat, SAM and U-box domain containing 1
Synonyms 2610014F08Rik, 1700048E19Rik
MMRRC Submission 041038-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4209 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 59682708-59712935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59707149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 28 (P28S)
Ref Sequence ENSEMBL: ENSMUSP00000114814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028368] [ENSMUST00000102751] [ENSMUST00000128671] [ENSMUST00000133809] [ENSMUST00000140475]
AlphaFold Q9D0I6
Predicted Effect probably damaging
Transcript: ENSMUST00000028368
AA Change: P149S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: P149S

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: P149S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: P149S

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 probably damaging
Transcript: ENSMUST00000128671
AA Change: P149S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121242
Gene: ENSMUSG00000026988
AA Change: P149S

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 damaging
Transcript: ENSMUST00000133809
AA Change: P28S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
AA Change: P28S

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 damaging
Transcript: ENSMUST00000139689
AA Change: P13S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988
AA Change: P13S

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 probably damaging
Transcript: ENSMUST00000140475
AA Change: P149S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114811
Gene: ENSMUSG00000026988
AA Change: P149S

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
Meta Mutation Damage Score 0.1710 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,577 (GRCm39) Y350F probably damaging Het
Ahnak G A 19: 8,979,964 (GRCm39) G416D probably damaging Het
Ap3b2 C A 7: 81,126,884 (GRCm39) A289S probably benign Het
Arhgap23 C A 11: 97,345,322 (GRCm39) T657K probably damaging Het
Bcl9 A G 3: 97,117,269 (GRCm39) L475P probably damaging Het
Bean1 T A 8: 104,940,566 (GRCm39) M1K probably null Het
Cand1 T A 10: 119,047,463 (GRCm39) I676F probably benign Het
Casp3 G T 8: 47,088,423 (GRCm39) D107Y probably damaging Het
Cops4 T A 5: 100,695,352 (GRCm39) probably benign Het
Dchs1 A T 7: 105,415,397 (GRCm39) D626E probably damaging Het
Dpysl2 T C 14: 67,052,926 (GRCm39) S308G probably damaging Het
Fezf1 T C 6: 23,246,616 (GRCm39) K323E probably damaging Het
Gm10272 T C 10: 77,542,665 (GRCm39) V69A possibly damaging Het
Gtf2f1 A G 17: 57,318,003 (GRCm39) V11A probably benign Het
Hnf4a T C 2: 163,410,809 (GRCm39) S378P probably benign Het
Inpp5j T G 11: 3,451,107 (GRCm39) H514P probably damaging Het
Irf8 T A 8: 121,480,208 (GRCm39) Y149N probably damaging Het
Kel C T 6: 41,675,359 (GRCm39) W297* probably null Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mcpt8 G A 14: 56,321,375 (GRCm39) H30Y probably damaging Het
Mycl G T 4: 122,893,715 (GRCm39) V172L possibly damaging Het
Pcgf5 C A 19: 36,414,740 (GRCm39) N26K possibly damaging Het
Ppp2r2a A G 14: 67,266,328 (GRCm39) L111S probably damaging Het
Prdm2 T C 4: 142,861,007 (GRCm39) D761G probably damaging Het
Sec11a A T 7: 80,584,790 (GRCm39) I49N probably damaging Het
Sesn3 T C 9: 14,217,505 (GRCm39) I30T probably benign Het
Slc22a21 A G 11: 53,846,881 (GRCm39) S331P probably benign Het
Slc38a3 T G 9: 107,532,547 (GRCm39) S358R possibly damaging Het
Slc9a5 A G 8: 106,085,103 (GRCm39) N535D possibly damaging Het
Spns2 T C 11: 72,345,012 (GRCm39) D492G probably benign Het
Tcn2 T C 11: 3,872,114 (GRCm39) K338E possibly damaging Het
Tdp1 C A 12: 99,864,588 (GRCm39) A243E probably damaging Het
Tex16 T A X: 111,030,640 (GRCm39) D1046E probably benign Het
Tmem120a T C 5: 135,764,559 (GRCm39) N340S probably benign Het
Tnik A T 3: 28,413,214 (GRCm39) probably benign Het
Trim36 A G 18: 46,329,191 (GRCm39) L71P probably benign Het
Tube1 A G 10: 39,020,930 (GRCm39) probably null Het
Urgcp C A 11: 5,665,878 (GRCm39) G820V probably damaging Het
Veph1 A T 3: 66,151,967 (GRCm39) L154Q probably damaging Het
Vmn1r113 T C 7: 20,521,535 (GRCm39) V109A probably benign Het
Vmn1r152 A T 7: 22,223,004 (GRCm39) T205S possibly damaging Het
Ybx2 G T 11: 69,826,767 (GRCm39) probably benign Het
Zfyve1 A T 12: 83,621,909 (GRCm39) V162E 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
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
Predicted Primers PCR Primer
(F):5'- AATTACAGACAGGGAGCCCG -3'
(R):5'- CTCATGGGTATCAGCTACTGTG -3'

Sequencing Primer
(F):5'- CCCGCGCTTAGAAGAGTGAG -3'
(R):5'- AAGACCTTGCTGTACCCTGTAGAG -3'
Posted On 2015-06-10