Incidental Mutation 'R9183:Wdr27'
ID 697212
Institutional Source Beutler Lab
Gene Symbol Wdr27
Ensembl Gene ENSMUSG00000046991
Gene Name WD repeat domain 27
Synonyms 0610012K18Rik
MMRRC Submission 068950-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R9183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 15038781-15163420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15148651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 114 (R114Q)
Ref Sequence ENSEMBL: ENSMUSP00000126736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
AlphaFold Q8C5V5
Predicted Effect possibly damaging
Transcript: ENSMUST00000170386
AA Change: R114Q

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: R114Q

DomainStartEndE-ValueType
WD40 59 99 4.79e-1 SMART
WD40 114 149 6.36e1 SMART
WD40 152 192 3.93e-7 SMART
WD40 195 235 2.38e1 SMART
low complexity region 473 492 N/A INTRINSIC
WD40 498 539 1.48e1 SMART
WD40 542 581 5.26e-8 SMART
WD40 642 684 2.97e0 SMART
WD40 687 737 7.64e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000228330
AA Change: R114Q

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000232147
AA Change: R114Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,559 (GRCm38) C313R probably damaging Het
Adap2 A G 11: 80,045,882 (GRCm39) N54S probably damaging Het
Adcy8 T C 15: 64,694,116 (GRCm39) D387G probably damaging Het
Adgra1 G A 7: 139,455,716 (GRCm39) R448Q probably benign Het
Antxr1 A T 6: 87,264,025 (GRCm39) D148E probably damaging Het
Ap3d1 A T 10: 80,545,627 (GRCm39) V1034E probably null Het
Arpp21 C T 9: 111,895,066 (GRCm39) A731T probably benign Het
Asl T A 5: 130,042,312 (GRCm39) R255W probably damaging Het
Asxl1 T A 2: 153,239,840 (GRCm39) S544T probably damaging Het
Atp8a1 A C 5: 67,924,378 (GRCm39) Y329D Het
Calcr A T 6: 3,711,463 (GRCm39) I186N probably damaging Het
Cdh18 T C 15: 23,227,065 (GRCm39) probably null Het
Celsr3 T C 9: 108,706,595 (GRCm39) L1026P probably damaging Het
Ces2a T A 8: 105,460,774 (GRCm39) V24E possibly damaging Het
Clybl T C 14: 122,639,387 (GRCm39) I317T probably damaging Het
Col13a1 T A 10: 61,699,758 (GRCm39) T476S unknown Het
Cyp4f15 T C 17: 32,919,205 (GRCm39) S343P probably damaging Het
D630003M21Rik T C 2: 158,059,112 (GRCm39) T263A probably benign Het
Fbxo28 A G 1: 182,157,526 (GRCm39) V97A possibly damaging Het
Frem2 C T 3: 53,427,486 (GRCm39) V2889I probably damaging Het
Garnl3 T C 2: 32,895,080 (GRCm39) E663G probably damaging Het
Gen1 T A 12: 11,299,186 (GRCm39) K338M probably damaging Het
Gfi1 A G 5: 107,873,819 (GRCm39) probably null Het
Gfod2 A G 8: 106,449,653 (GRCm39) S95P probably benign Het
H2-T13 T A 17: 36,392,382 (GRCm39) H31L unknown Het
Heatr1 A G 13: 12,436,266 (GRCm39) Q1224R probably damaging Het
Hectd4 A G 5: 121,437,551 (GRCm39) K1059E possibly damaging Het
Hmgcs2 C T 3: 98,198,232 (GRCm39) A45V possibly damaging Het
Hnmt C A 2: 23,893,655 (GRCm39) V280L probably benign Het
Ifi35 G T 11: 101,348,091 (GRCm39) V66L probably benign Het
Kcnn2 T C 18: 45,694,379 (GRCm39) I188T probably damaging Het
Klhl8 C A 5: 104,012,111 (GRCm39) A575S probably benign Het
Krt6a T C 15: 101,601,446 (GRCm39) D225G probably benign Het
Lrtm2 T C 6: 119,294,384 (GRCm39) Y249C probably damaging Het
Med12l C T 3: 58,984,498 (GRCm39) R479C probably damaging Het
Muc5ac A T 7: 141,352,637 (GRCm39) Y709F possibly damaging Het
Nsd2 G A 5: 34,028,796 (GRCm39) A162T probably damaging Het
Or6c38 A G 10: 128,929,201 (GRCm39) M214T probably benign Het
Phaf1 C A 8: 105,957,840 (GRCm39) Q49K probably benign Het
Polr2h T C 16: 20,539,285 (GRCm39) Y90H possibly damaging Het
Prkaa1 A T 15: 5,205,969 (GRCm39) E275V probably damaging Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rhcg A T 7: 79,244,564 (GRCm39) L496* probably null Het
Rnf213 A G 11: 119,318,448 (GRCm39) E1084G Het
Safb2 ACTTCTTCT ACTTCT 17: 56,878,292 (GRCm39) probably benign Het
Slc14a1 T A 18: 78,154,598 (GRCm39) I263F probably benign Het
Slc40a1 C T 1: 45,948,671 (GRCm39) M536I possibly damaging Het
Slco6c1 T A 1: 96,996,775 (GRCm39) probably null Het
Stk32a T C 18: 43,394,405 (GRCm39) F118S probably damaging Het
Sytl1 G T 4: 132,980,934 (GRCm39) R467S possibly damaging Het
Thbs2 T C 17: 14,896,526 (GRCm39) I788V probably benign Het
Tmed6 T A 8: 107,788,390 (GRCm39) R186* probably null Het
Trnau1ap G A 4: 132,052,565 (GRCm39) R78C probably damaging Het
Trpv1 A T 11: 73,135,039 (GRCm39) D412V possibly damaging Het
Ttc16 C T 2: 32,647,329 (GRCm39) V688M probably benign Het
Ubr5 C A 15: 37,997,420 (GRCm39) L1738F Het
Vmn2r89 A G 14: 51,692,501 (GRCm39) I101M probably benign Het
Wdr48 A G 9: 119,749,730 (GRCm39) H563R possibly damaging Het
Wdr49 A C 3: 75,205,419 (GRCm39) S666A probably benign Het
Wwox T C 8: 115,433,110 (GRCm39) S259P probably damaging Het
Zfp160 T A 17: 21,240,354 (GRCm39) D12E possibly damaging Het
Zfp800 A G 6: 28,243,172 (GRCm39) Y598H probably benign Het
Zfp970 T C 2: 177,167,536 (GRCm39) L370P probably damaging Het
Zmat5 A T 11: 4,672,431 (GRCm39) D16V probably damaging Het
Other mutations in Wdr27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Wdr27 APN 17 15,148,572 (GRCm39) nonsense probably null
IGL00973:Wdr27 APN 17 15,134,140 (GRCm39) missense probably benign 0.01
IGL01012:Wdr27 APN 17 15,146,509 (GRCm39) missense probably damaging 1.00
IGL01924:Wdr27 APN 17 15,137,488 (GRCm39) missense probably damaging 0.99
IGL02044:Wdr27 APN 17 15,122,031 (GRCm39) missense possibly damaging 0.72
IGL02198:Wdr27 APN 17 15,128,860 (GRCm39) missense possibly damaging 0.52
IGL02430:Wdr27 APN 17 15,122,062 (GRCm39) missense probably damaging 0.98
IGL02496:Wdr27 APN 17 15,112,693 (GRCm39) splice site probably benign
IGL02552:Wdr27 APN 17 15,146,453 (GRCm39) missense probably damaging 1.00
IGL02590:Wdr27 APN 17 15,138,041 (GRCm39) missense possibly damaging 0.93
IGL02892:Wdr27 APN 17 15,096,438 (GRCm39) missense possibly damaging 0.95
IGL02957:Wdr27 APN 17 15,130,372 (GRCm39) splice site probably benign
IGL03295:Wdr27 APN 17 15,154,837 (GRCm39) missense possibly damaging 0.71
PIT4498001:Wdr27 UTSW 17 15,154,831 (GRCm39) missense probably benign 0.01
R0329:Wdr27 UTSW 17 15,154,721 (GRCm39) splice site probably benign
R0671:Wdr27 UTSW 17 15,148,658 (GRCm39) missense probably benign 0.04
R1166:Wdr27 UTSW 17 15,112,733 (GRCm39) missense probably damaging 1.00
R1308:Wdr27 UTSW 17 15,148,646 (GRCm39) missense probably damaging 0.98
R1652:Wdr27 UTSW 17 15,137,532 (GRCm39) missense probably benign 0.01
R1771:Wdr27 UTSW 17 15,112,703 (GRCm39) missense probably damaging 1.00
R1966:Wdr27 UTSW 17 15,154,861 (GRCm39) missense possibly damaging 0.86
R2106:Wdr27 UTSW 17 15,141,116 (GRCm39) missense probably benign 0.44
R2131:Wdr27 UTSW 17 15,148,594 (GRCm39) missense probably damaging 1.00
R3803:Wdr27 UTSW 17 15,138,371 (GRCm39) missense probably benign 0.01
R4335:Wdr27 UTSW 17 15,141,018 (GRCm39) splice site probably null
R4577:Wdr27 UTSW 17 15,123,724 (GRCm39) missense probably benign 0.00
R4787:Wdr27 UTSW 17 15,152,816 (GRCm39) missense possibly damaging 0.86
R4853:Wdr27 UTSW 17 15,137,475 (GRCm39) splice site probably null
R4922:Wdr27 UTSW 17 15,141,016 (GRCm39) splice site probably null
R4951:Wdr27 UTSW 17 15,096,395 (GRCm39) missense probably damaging 0.99
R5784:Wdr27 UTSW 17 15,146,495 (GRCm39) missense probably damaging 1.00
R5809:Wdr27 UTSW 17 15,103,931 (GRCm39) missense probably damaging 1.00
R6128:Wdr27 UTSW 17 15,152,796 (GRCm39) nonsense probably null
R6584:Wdr27 UTSW 17 15,122,031 (GRCm39) missense probably damaging 1.00
R6705:Wdr27 UTSW 17 15,154,852 (GRCm39) missense probably damaging 1.00
R7511:Wdr27 UTSW 17 15,103,965 (GRCm39) missense probably benign 0.00
R8273:Wdr27 UTSW 17 15,049,838 (GRCm39) missense probably benign
R8350:Wdr27 UTSW 17 15,152,787 (GRCm39) missense probably benign
R8353:Wdr27 UTSW 17 15,112,751 (GRCm39) missense probably benign 0.08
R8450:Wdr27 UTSW 17 15,152,787 (GRCm39) missense probably benign
R8453:Wdr27 UTSW 17 15,112,751 (GRCm39) missense probably benign 0.08
R8535:Wdr27 UTSW 17 15,123,799 (GRCm39) missense possibly damaging 0.88
R8735:Wdr27 UTSW 17 15,103,929 (GRCm39) missense probably damaging 1.00
R8960:Wdr27 UTSW 17 15,103,908 (GRCm39) missense probably benign 0.01
R9120:Wdr27 UTSW 17 15,152,846 (GRCm39) missense probably damaging 1.00
R9351:Wdr27 UTSW 17 15,128,833 (GRCm39) missense possibly damaging 0.52
R9373:Wdr27 UTSW 17 15,154,795 (GRCm39) missense probably benign 0.00
R9389:Wdr27 UTSW 17 15,111,980 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TGCCGTTTTAAAGAGGGAAGC -3'
(R):5'- GAGGCCAGTTTCCATATGGC -3'

Sequencing Primer
(F):5'- GAAGCAGGAATGAAATACTCACC -3'
(R):5'- TGATCCTGTACTGAAAAACCTCAGG -3'
Posted On 2022-02-07