Incidental Mutation 'R4787:Wdr27'
ID 367202
Institutional Source Beutler Lab
Gene Symbol Wdr27
Ensembl Gene ENSMUSG00000046991
Gene Name WD repeat domain 27
Synonyms 0610012K18Rik
MMRRC Submission 041975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R4787 (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 15152816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 97 (M97K)
Ref Sequence ENSEMBL: ENSMUSP00000155992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]
AlphaFold Q8C5V5
Predicted Effect probably benign
Transcript: ENSMUST00000170386
AA Change: M97K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: M97K

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 probably benign
Transcript: ENSMUST00000228330
AA Change: M97K

PolyPhen 2 Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000232147
AA Change: M97K

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.5995 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (72/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 73,199,008 (GRCm39) Y138* probably null Het
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Amy2b T C 3: 113,058,634 (GRCm39) noncoding transcript Het
Anxa1 T A 19: 20,351,118 (GRCm39) D334V probably damaging Het
Atoh8 T C 6: 72,200,761 (GRCm39) T310A possibly damaging Het
BC002059 G A 17: 17,193,810 (GRCm39) noncoding transcript Het
Ccdc40 A G 11: 119,144,447 (GRCm39) D924G possibly damaging Het
Ccm2l A T 2: 152,921,422 (GRCm39) M433L probably benign Het
Cd209e T C 8: 3,901,181 (GRCm39) S158G probably null Het
Cdkn2a C T 4: 89,194,955 (GRCm39) R153H unknown Het
Cfap69 A G 5: 5,696,934 (GRCm39) probably null Het
Col6a5 T C 9: 105,808,280 (GRCm39) T923A unknown Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Ddrgk1 A G 2: 130,500,248 (GRCm39) F216S probably damaging Het
Dysf T A 6: 84,180,310 (GRCm39) C1995* probably null Het
Epb41l5 G A 1: 119,523,725 (GRCm39) P467S probably benign Het
Extl1 G A 4: 134,091,978 (GRCm39) L292F probably damaging Het
Fsd1 A G 17: 56,303,257 (GRCm39) N409D possibly damaging Het
Gm15455 A T 1: 33,876,803 (GRCm39) noncoding transcript Het
Gm8894 A G 14: 55,658,172 (GRCm39) noncoding transcript Het
Gtf3c2 C T 5: 31,314,921 (GRCm39) S942N probably benign Het
Gvin-ps3 T C 7: 105,681,041 (GRCm39) noncoding transcript Het
H2-Ab1 A T 17: 34,486,441 (GRCm39) T167S possibly damaging Het
Ighv8-9 C T 12: 115,432,134 (GRCm39) R59H probably damaging Het
Igsf9b G A 9: 27,228,752 (GRCm39) V171I probably benign Het
Il31ra C T 13: 112,664,079 (GRCm39) E533K possibly damaging Het
Iqgap1 A C 7: 80,385,261 (GRCm39) L1022R probably damaging Het
Kcna4 T C 2: 107,126,813 (GRCm39) F516L probably damaging Het
Kmt2e A G 5: 23,668,081 (GRCm39) T47A possibly damaging Het
L3mbtl2 A G 15: 81,548,175 (GRCm39) probably benign Het
Ldhb-ps C A 19: 21,915,601 (GRCm39) noncoding transcript Het
Lipo3 T A 19: 33,757,749 (GRCm39) Q240L probably benign Het
Lpar5 A G 6: 125,059,461 (GRCm39) probably null Het
Lrrk2 A G 15: 91,597,031 (GRCm39) D541G probably benign Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Meig1 A G 2: 3,410,251 (GRCm39) V83A possibly damaging Het
Natd1 A C 11: 60,797,822 (GRCm39) C34W probably damaging Het
Nup205 T A 6: 35,178,996 (GRCm39) C689S probably damaging Het
Or4c104 T A 2: 88,586,219 (GRCm39) K267* probably null Het
Or52u1 T C 7: 104,237,167 (GRCm39) M52T probably benign Het
Or5d35 T C 2: 87,855,204 (GRCm39) M46T possibly damaging Het
Or6a2 G A 7: 106,600,293 (GRCm39) A258V probably benign Het
Pdgfrb A C 18: 61,212,759 (GRCm39) S888R probably damaging Het
Plppr4 T C 3: 117,115,979 (GRCm39) E626G probably damaging Het
Ppfia3 C A 7: 44,990,050 (GRCm39) A1159S possibly damaging Het
Pramel32 T A 4: 88,547,450 (GRCm39) K74* probably null Het
Prex1 A G 2: 166,480,260 (GRCm39) V160A probably benign Het
Psmb7 C T 2: 38,478,283 (GRCm39) C247Y probably benign Het
Rbm33 C T 5: 28,547,435 (GRCm39) probably null Het
Rfc5 T C 5: 117,520,485 (GRCm39) T236A probably benign Het
Sdk1 G T 5: 141,568,168 (GRCm39) R122L probably benign Het
Sh3bp1 T C 15: 78,792,195 (GRCm39) S451P possibly damaging Het
Smap1 G T 1: 23,888,347 (GRCm39) probably benign Het
Smc2 T A 4: 52,462,927 (GRCm39) V639E probably damaging Het
Synpo2l T A 14: 20,711,765 (GRCm39) Q511L possibly damaging Het
Taok2 G A 7: 126,467,304 (GRCm39) S167L possibly damaging Het
Tbc1d17 G A 7: 44,492,488 (GRCm39) P392S probably benign Het
Tef T A 15: 81,707,758 (GRCm39) I261N probably damaging Het
Tmbim1 T C 1: 74,334,519 (GRCm39) N14D possibly damaging Het
Tmprss11c T C 5: 86,404,312 (GRCm39) K121R probably benign Het
Trim36 C A 18: 46,305,599 (GRCm39) M461I probably benign Het
Trpc1 T A 9: 95,603,468 (GRCm39) M355L probably benign Het
Tspyl4 A C 10: 34,173,760 (GRCm39) D84A probably benign Het
Twf1 G T 15: 94,482,315 (GRCm39) P144T probably damaging Het
Ugt1a7c T C 1: 88,023,392 (GRCm39) C184R probably damaging Het
Unc79 C T 12: 103,013,257 (GRCm39) P283S probably damaging Het
Usp45 T C 4: 21,796,860 (GRCm39) C49R probably benign Het
Wdr11 T A 7: 129,210,658 (GRCm39) probably benign 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
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
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'- ACCCAGTCTTCTCCATGGTAG -3'
(R):5'- TGATCAGCAGTGTCTTCAAGG -3'

Sequencing Primer
(F):5'- CTTGTAGGTCACCATCCAGGAAG -3'
(R):5'- CAGCAGTGTCTTCAAGGATTATAATG -3'
Posted On 2015-12-29