Incidental Mutation 'R5402:Wdsub1'
ID 430024
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 042973-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5402 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 59682708-59712935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59700822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 138 (N138D)
Ref Sequence ENSEMBL: ENSMUSP00000114814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028368] [ENSMUST00000102751] [ENSMUST00000133809]
AlphaFold Q9D0I6
Predicted Effect probably benign
Transcript: ENSMUST00000028368
SMART Domains Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988

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 benign
Transcript: ENSMUST00000102751
SMART Domains Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988

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 benign
Transcript: ENSMUST00000133809
AA Change: N138D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
AA Change: N138D

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 noncoding transcript
Transcript: ENSMUST00000140852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144343
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,607,834 (GRCm39) D4079E probably benign Het
Bcar1 T C 8: 112,440,962 (GRCm39) D344G probably damaging Het
Car9 A G 4: 43,510,213 (GRCm39) N265S probably damaging Het
Ccr7 A G 11: 99,036,560 (GRCm39) S121P possibly damaging Het
Cgnl1 A G 9: 71,536,603 (GRCm39) L1278P probably damaging Het
Chst9 A T 18: 15,585,872 (GRCm39) S230R probably damaging Het
Cped1 G A 6: 22,143,951 (GRCm39) V566M probably benign Het
Csf2 A T 11: 54,138,489 (GRCm39) Y117* probably null Het
Cwf19l1 C T 19: 44,121,524 (GRCm39) probably null Het
Cyp2d34 C T 15: 82,503,287 (GRCm39) G69D probably damaging Het
Dync2h1 A T 9: 7,114,949 (GRCm39) V170E probably damaging Het
Ehbp1l1 T A 19: 5,766,348 (GRCm39) T388S possibly damaging Het
Etfa T C 9: 55,362,023 (GRCm39) I329M probably benign Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Fmnl2 G A 2: 53,018,794 (GRCm39) V1078I probably damaging Het
Fnip2 A G 3: 79,388,250 (GRCm39) L797P possibly damaging Het
Gmeb2 A T 2: 180,897,750 (GRCm39) probably null Het
Greb1l A G 18: 10,537,169 (GRCm39) T1045A probably benign Het
Hapln1 A G 13: 89,753,530 (GRCm39) N232S probably benign Het
Hibadh A T 6: 52,523,965 (GRCm39) M311K probably benign Het
Hus1 C T 11: 8,960,240 (GRCm39) probably null Het
Il31ra T C 13: 112,660,669 (GRCm39) E640G probably benign Het
L3mbtl4 T C 17: 68,762,769 (GRCm39) F101L probably damaging Het
Lbr A T 1: 181,647,526 (GRCm39) M417K probably benign Het
Lrig3 T G 10: 125,844,609 (GRCm39) L691R probably damaging Het
Mcm3ap T A 10: 76,319,148 (GRCm39) F792Y probably benign Het
Mst1 T C 9: 107,961,408 (GRCm39) probably null Het
Nova2 C A 7: 18,692,371 (GRCm39) T500K probably damaging Het
Nxph4 A T 10: 127,362,133 (GRCm39) C253S probably damaging Het
Or2t1 T C 14: 14,328,878 (GRCm38) Y256H probably damaging Het
Or4s2b T A 2: 88,508,492 (GRCm39) S98T possibly damaging Het
Pcdhga3 G A 18: 37,808,747 (GRCm39) R400Q probably benign Het
Pidd1 C A 7: 141,018,507 (GRCm39) A915S probably damaging Het
Plat T G 8: 23,262,738 (GRCm39) W148G probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Pramel27 G A 4: 143,578,225 (GRCm39) probably null Het
Ptdss1 A G 13: 67,081,663 (GRCm39) D31G possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Samd8 A G 14: 21,825,236 (GRCm39) D64G probably damaging Het
Scgb1b20 A G 7: 33,072,656 (GRCm39) probably null Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc25a23 T C 17: 57,360,336 (GRCm39) I269V probably benign Het
Slc35f4 A T 14: 49,556,331 (GRCm39) S141T probably damaging Het
Srgap1 T C 10: 121,621,665 (GRCm39) M966V probably benign Het
Syne2 T A 12: 76,106,213 (GRCm39) V5526E probably damaging Het
Tcaf3 A G 6: 42,568,860 (GRCm39) S596P probably benign Het
Tg T A 15: 66,611,017 (GRCm39) I356N probably damaging Het
Ttc6 C T 12: 57,783,817 (GRCm39) R1759* probably null Het
Zfp1001 A G 2: 150,204,886 (GRCm39) I67V probably benign 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
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'- CTGGGTCTCTGCTCTGCA -3'
(R):5'- GAGTGGGAGGAGCCTTGCT -3'

Sequencing Primer
(F):5'- CAGAGAGACCCTGTCTGGAAC -3'
(R):5'- AGGAGCCTTGCTTCAGTGC -3'
Posted On 2016-09-06