Incidental Mutation 'R5809:Wdr27'
ID 448941
Institutional Source Beutler Lab
Gene Symbol Wdr27
Ensembl Gene ENSMUSG00000046991
Gene Name WD repeat domain 27
Synonyms 0610012K18Rik
MMRRC Submission 043394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R5809 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 15038781-15163420 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 15103931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 725 (L725Q)
Ref Sequence ENSEMBL: ENSMUSP00000155992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
AlphaFold Q8C5V5
Predicted Effect probably damaging
Transcript: ENSMUST00000170386
AA Change: L725Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: L725Q

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 noncoding transcript
Transcript: ENSMUST00000228233
Predicted Effect probably damaging
Transcript: ENSMUST00000228330
AA Change: L725Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232147
AA Change: L725Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2769 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,556 (GRCm39) S4G unknown Het
AA623943 T C 11: 94,703,828 (GRCm39) noncoding transcript Het
Abca13 T A 11: 9,243,692 (GRCm39) S1852T probably damaging Het
Ackr2 G A 9: 121,738,540 (GRCm39) C305Y probably damaging Het
Aebp1 T C 11: 5,820,257 (GRCm39) V411A probably benign Het
Akp3 G A 1: 87,054,270 (GRCm39) R269H probably benign Het
Alox15 C A 11: 70,241,708 (GRCm39) G58W probably damaging Het
Ankle2 A G 5: 110,385,856 (GRCm39) N369S probably damaging Het
Ankrd28 T A 14: 31,465,311 (GRCm39) I289L probably benign Het
Atp13a4 T A 16: 29,252,805 (GRCm39) T714S possibly damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Blm A T 7: 80,114,592 (GRCm39) L1159Q probably damaging Het
Caskin1 G A 17: 24,723,521 (GRCm39) V770I probably benign Het
Ccdc148 T A 2: 58,713,657 (GRCm39) H498L probably damaging Het
Cdh26 T A 2: 178,101,919 (GRCm39) Y179* probably null Het
Cela2a T A 4: 141,552,864 (GRCm39) T38S probably benign Het
Cep350 A T 1: 155,809,087 (GRCm39) N496K probably damaging Het
Cep89 A G 7: 35,117,151 (GRCm39) Y251C probably damaging Het
Cluh T C 11: 74,552,526 (GRCm39) S524P probably damaging Het
Cpeb4 T C 11: 31,822,801 (GRCm39) S172P probably damaging Het
Ctnnd2 T C 15: 30,847,523 (GRCm39) S705P probably damaging Het
Dock2 T G 11: 34,212,445 (GRCm39) D1232A probably benign Het
Donson T C 16: 91,484,738 (GRCm39) N9S possibly damaging Het
Gdf9 T C 11: 53,324,381 (GRCm39) L50P probably benign Het
Gm10300 C T 4: 131,802,458 (GRCm39) probably benign Het
Gm8369 A G 19: 11,482,248 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,924 (GRCm39) noncoding transcript Het
Hepacam T A 9: 37,296,101 (GRCm39) S417R possibly damaging Het
Hibch T A 1: 52,892,859 (GRCm39) L23Q probably benign Het
Hmcn1 G A 1: 150,525,358 (GRCm39) R3389C probably damaging Het
Hsp90ab1 G T 17: 45,881,575 (GRCm39) probably benign Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Il12a A T 3: 68,602,595 (GRCm39) probably benign Het
Ints13 A G 6: 146,477,847 (GRCm39) V34A probably benign Het
Intu A C 3: 40,634,020 (GRCm39) M418L probably damaging Het
Khdc4 A G 3: 88,616,192 (GRCm39) R460G probably damaging Het
Klra9 A G 6: 130,156,036 (GRCm39) S240P probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndrg1 A G 15: 66,802,699 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,905 (GRCm39) *310Q probably null Het
Or5k17 T C 16: 58,746,860 (GRCm39) T25A probably benign Het
Pate6 C T 9: 35,700,297 (GRCm39) C96Y probably damaging Het
Pax7 A G 4: 139,557,682 (GRCm39) S30P probably damaging Het
Pdcd11 A T 19: 47,082,247 (GRCm39) T54S probably benign Het
Pex19 T C 1: 171,958,306 (GRCm39) V95A probably damaging Het
Pkhd1l1 A G 15: 44,383,103 (GRCm39) I1121V probably benign Het
Pklr A T 3: 89,049,091 (GRCm39) I146F probably benign Het
Plcb1 T C 2: 135,104,164 (GRCm39) Y278H possibly damaging Het
Plcl1 T A 1: 55,735,160 (GRCm39) I167N probably damaging Het
Plekhh1 A T 12: 79,125,461 (GRCm39) I1241F probably benign Het
Plxnb2 G T 15: 89,051,774 (GRCm39) D148E possibly damaging Het
Pthlh T C 6: 147,158,745 (GRCm39) I72V probably damaging Het
Ptpru C T 4: 131,513,067 (GRCm39) R880Q probably benign Het
Rrp36 T C 17: 46,978,932 (GRCm39) K209E probably damaging Het
Scarb1 A G 5: 125,381,286 (GRCm39) V86A probably damaging Het
Sh2d7 A C 9: 54,446,860 (GRCm39) S37R probably benign Het
Slc13a2 A T 11: 78,288,647 (GRCm39) V543E probably damaging Het
Smarcal1 A G 1: 72,630,296 (GRCm39) T117A probably benign Het
Smok2a A G 17: 13,445,865 (GRCm39) R481G possibly damaging Het
Smr2 G A 5: 88,256,699 (GRCm39) A126T probably benign Het
Sspo G T 6: 48,436,979 (GRCm39) W1304C possibly damaging Het
Svep1 A G 4: 58,116,524 (GRCm39) S909P possibly damaging Het
Tchh A T 3: 93,352,880 (GRCm39) K773N unknown Het
Tmem156 T C 5: 65,232,950 (GRCm39) N140S possibly damaging Het
Tmem213 T C 6: 38,092,589 (GRCm39) I107T possibly damaging Het
Tpd52l2 A G 2: 181,153,372 (GRCm39) Y161C probably damaging Het
Trappc8 C T 18: 20,951,139 (GRCm39) A1436T probably benign Het
Ubr3 A G 2: 69,795,855 (GRCm39) Y933C possibly damaging Het
Ufm1 A T 3: 53,765,303 (GRCm39) probably benign Het
Zdbf2 A G 1: 63,345,035 (GRCm39) D1138G possibly damaging Het
Zkscan16 G A 4: 58,946,481 (GRCm39) V119M probably damaging Het
Zmat5 A G 11: 4,672,431 (GRCm39) D16G 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
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
R9183:Wdr27 UTSW 17 15,148,651 (GRCm39) missense possibly damaging 0.50
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'- GCAGTCTTCTCCAGAGCTTAG -3'
(R):5'- GTTAGGTGTCAGTAGTCTTTACAAG -3'

Sequencing Primer
(F):5'- GCTTAGAGACTAGTCACAGCCTTG -3'
(R):5'- ATGTGAGTCTGATCCCAAGGC -3'
Posted On 2016-12-15