Incidental Mutation 'R2938:Wdsub1'
ID 256080
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 040515-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R2938 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 59682708-59712935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59703630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000114814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028368] [ENSMUST00000102751] [ENSMUST00000128671] [ENSMUST00000133809] [ENSMUST00000140475]
AlphaFold Q9D0I6
Predicted Effect probably benign
Transcript: ENSMUST00000028368
AA Change: T233A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028368
Gene: ENSMUSG00000026988
AA Change: T233A

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
AA Change: T233A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000099812
Gene: ENSMUSG00000026988
AA Change: T233A

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: ENSMUST00000128671
SMART Domains Protein: ENSMUSP00000121242
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
Blast:WD40 169 194 1e-9 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000133809
AA Change: T112A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114814
Gene: ENSMUSG00000026988
AA Change: T112A

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 unknown
Transcript: ENSMUST00000139689
AA Change: T97A
SMART Domains Protein: ENSMUSP00000121438
Gene: ENSMUSG00000026988
AA Change: T97A

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 benign
Transcript: ENSMUST00000140475
SMART Domains Protein: ENSMUSP00000114811
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
Blast:WD40 169 194 1e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140852
Meta Mutation Damage Score 0.0992 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 T A 2: 166,736,653 (GRCm39) I1775K probably damaging Het
Arhgap45 T A 10: 79,864,836 (GRCm39) M933K probably damaging Het
Astn2 A T 4: 65,910,550 (GRCm39) H427Q possibly damaging Het
Bace2 T C 16: 97,213,388 (GRCm39) probably null Het
Cacna1b A G 2: 24,496,540 (GRCm39) V125A probably benign Het
Cbarp T C 10: 79,967,603 (GRCm39) D539G probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc73 T A 2: 104,805,980 (GRCm39) L296* probably null Het
Cd40 G C 2: 164,911,622 (GRCm39) V191L probably benign Het
Cdc6 A G 11: 98,801,586 (GRCm39) I217V probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdr1 T G X: 60,228,968 (GRCm39) D66A unknown Het
Cela3b A G 4: 137,150,574 (GRCm39) I208T probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm39) Q375L possibly damaging Het
Csn1s1 A T 5: 87,824,995 (GRCm39) Q221L possibly damaging Het
Cstl1 T A 2: 148,592,977 (GRCm39) I44N possibly damaging Het
Depdc5 G A 5: 33,058,965 (GRCm39) probably null Het
Dthd1 A G 5: 63,000,300 (GRCm39) I541V probably benign Het
Eml6 G A 11: 29,783,049 (GRCm39) probably benign Het
Fkbp15 T A 4: 62,222,900 (GRCm39) T1000S probably benign Het
Gimap8 A T 6: 48,635,730 (GRCm39) R498S possibly damaging Het
Glis1 A G 4: 107,489,488 (GRCm39) N692D possibly damaging Het
Gpr83 A G 9: 14,776,167 (GRCm39) T163A probably benign Het
Hmgcr G A 13: 96,799,576 (GRCm39) L173F probably damaging Het
Htr2b T A 1: 86,030,177 (GRCm39) I173F possibly damaging Het
Ifna11 T C 4: 88,738,530 (GRCm39) L112P probably damaging Het
Lmod1 A G 1: 135,291,654 (GRCm39) K170E probably benign Het
Lrrtm1 A T 6: 77,220,635 (GRCm39) M31L probably benign Het
Macf1 T C 4: 123,326,695 (GRCm39) N2815S probably damaging Het
Man1c1 A G 4: 134,430,263 (GRCm39) I173T possibly damaging Het
Man2b2 A G 5: 36,978,330 (GRCm39) I318T probably benign Het
Mib1 T A 18: 10,752,033 (GRCm39) probably benign Het
Myo10 T A 15: 25,795,803 (GRCm39) S1315T probably damaging Het
Nsun5 C T 5: 135,404,317 (GRCm39) Q375* probably null Het
Opcml A G 9: 27,702,682 (GRCm39) M1V probably null Het
Or4d5 A T 9: 40,012,039 (GRCm39) I249K probably benign Het
Or5m3 T C 2: 85,838,357 (GRCm39) M79T probably damaging Het
Or6c66b T A 10: 129,376,484 (GRCm39) F26Y probably damaging Het
Parm1 T C 5: 91,742,328 (GRCm39) I232T possibly damaging Het
Pdss1 T A 2: 22,796,799 (GRCm39) probably null Het
Pfkfb2 G A 1: 130,633,147 (GRCm39) T202I possibly damaging Het
Postn T A 3: 54,277,731 (GRCm39) F242Y probably damaging Het
Prss12 A G 3: 123,280,625 (GRCm39) T437A probably benign Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rbm10 T C X: 20,513,934 (GRCm39) L429P possibly damaging Het
Saraf A G 8: 34,635,735 (GRCm39) N346D probably benign Het
Sec31b T C 19: 44,524,618 (GRCm39) D93G probably damaging Het
Sgcg A T 14: 61,467,074 (GRCm39) F175L probably damaging Het
Sh3rf2 A G 18: 42,282,789 (GRCm39) D449G probably benign Het
Slc9a3 T C 13: 74,269,788 (GRCm39) I52T possibly damaging Het
Tcf7 A T 11: 52,173,610 (GRCm39) probably null Het
Tlr1 A G 5: 65,083,251 (GRCm39) V442A probably damaging Het
Tmub1 A G 5: 24,650,922 (GRCm39) *261Q probably null Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Utp4 A G 8: 107,649,561 (GRCm39) D670G probably damaging Het
Vamp5 A G 6: 72,346,323 (GRCm39) V91A probably benign Het
Vmn1r35 A T 6: 66,655,950 (GRCm39) M73K possibly damaging Het
Vmn2r12 C T 5: 109,239,397 (GRCm39) E389K probably damaging Het
Xpo4 G T 14: 57,841,897 (GRCm39) Q473K probably benign Het
Xpo7 A G 14: 70,909,130 (GRCm39) I797T probably damaging Het
Zfp808 G A 13: 62,319,032 (GRCm39) V67M 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
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
Predicted Primers PCR Primer
(F):5'- TCAATGGGTAGCATTTAGAAGACC -3'
(R):5'- GGCTACATACCCAGCTTTTACTG -3'

Sequencing Primer
(F):5'- ACCACGCTTGATGATCTGAG -3'
(R):5'- CAAAGCTGCATGAAGAGT -3'
Posted On 2014-12-29