Incidental Mutation 'R6007:Wdr18'
ID 479537
Institutional Source Beutler Lab
Gene Symbol Wdr18
Ensembl Gene ENSMUSG00000035754
Gene Name WD repeat domain 18
Synonyms 2310012I10Rik
MMRRC Submission 044184-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6007 (G1)
Quality Score 189.009
Status Validated
Chromosome 10
Chromosomal Location 79795989-79805081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79801177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 197 (T197A)
Ref Sequence ENSEMBL: ENSMUSP00000041049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045247]
AlphaFold Q4VBE8
Predicted Effect possibly damaging
Transcript: ENSMUST00000045247
AA Change: T197A

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754
AA Change: T197A

DomainStartEndE-ValueType
Blast:WD40 27 66 3e-17 BLAST
WD40 70 107 1.48e1 SMART
WD40 110 149 1.24e-4 SMART
WD40 161 202 2.49e-1 SMART
WD40 205 243 2.05e1 SMART
WD40 258 297 2.32e-9 SMART
low complexity region 353 367 N/A INTRINSIC
Pfam:WD40_alt 383 429 4.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220272
Meta Mutation Damage Score 0.7925 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.6%
Validation Efficiency 100% (54/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(8) : Targeted(1) Gene trapped(7)
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik G T 6: 83,137,900 (GRCm39) A9S possibly damaging Het
4930407I10Rik C G 15: 81,946,940 (GRCm39) T279S probably benign Het
A830018L16Rik A G 1: 11,582,140 (GRCm39) probably null Het
Abcg5 T G 17: 84,976,392 (GRCm39) I482L probably benign Het
Adgrf5 T A 17: 43,748,462 (GRCm39) D44E probably damaging Het
Amh A G 10: 80,641,305 (GRCm39) N75S probably benign Het
Arl8a T C 1: 135,080,606 (GRCm39) probably null Het
Bpifb4 T C 2: 153,784,480 (GRCm39) Y63H possibly damaging Het
Chd5 A T 4: 152,463,878 (GRCm39) E1449V probably null Het
Chml A G 1: 175,515,594 (GRCm39) V109A probably benign Het
Crybg3 G T 16: 59,374,837 (GRCm39) S2139* probably null Het
Cyp2c68 T C 19: 39,722,780 (GRCm39) D256G probably damaging Het
Dchs2 G T 3: 83,253,534 (GRCm39) V2315L probably damaging Het
Ddx20 T C 3: 105,590,736 (GRCm39) I227V possibly damaging Het
Drg2 T C 11: 60,353,451 (GRCm39) V266A possibly damaging Het
Flcn C A 11: 59,683,448 (GRCm39) E576D probably benign Het
Fstl5 T A 3: 76,317,899 (GRCm39) D188E probably damaging Het
Gm14496 A G 2: 181,639,323 (GRCm39) Q471R probably benign Het
Gm43772 T C 5: 66,332,334 (GRCm39) probably benign Het
Gpc6 C T 14: 118,188,673 (GRCm39) H436Y probably damaging Het
Gpr179 A T 11: 97,226,628 (GRCm39) C1842* probably null Het
Ints8 G A 4: 11,208,845 (GRCm39) T934I possibly damaging Het
Iqsec1 G T 6: 90,637,969 (GRCm39) C1050* probably null Het
Larp4b T C 13: 9,218,793 (GRCm39) V510A probably benign Het
Map3k13 A T 16: 21,723,933 (GRCm39) D305V possibly damaging Het
Mc5r A T 18: 68,472,318 (GRCm39) I226F possibly damaging Het
Mme G A 3: 63,250,929 (GRCm39) W323* probably null Het
Mrpl24 A G 3: 87,829,705 (GRCm39) Y97C probably benign Het
Mslnl G A 17: 25,965,749 (GRCm39) S541N probably benign Het
Npepl1 T C 2: 173,962,850 (GRCm39) V412A probably benign Het
Nrg3 T A 14: 39,194,409 (GRCm39) K117* probably null Het
Or11j4 G T 14: 50,630,948 (GRCm39) C245F probably damaging Het
Or4f52 T C 2: 111,061,275 (GRCm39) T288A probably benign Het
Orc2 A T 1: 58,506,851 (GRCm39) M447K probably benign Het
Phf3 A T 1: 30,843,426 (GRCm39) H1844Q probably damaging Het
Plxnc1 T C 10: 94,629,152 (GRCm39) I1541V possibly damaging Het
Rapgef4 T C 2: 72,010,293 (GRCm39) Y284H possibly damaging Het
Rnf180 C A 13: 105,317,957 (GRCm39) probably null Het
Secisbp2 T C 13: 51,819,395 (GRCm39) I325T probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Slc4a10 A G 2: 62,099,216 (GRCm39) M625V probably benign Het
Synpo T A 18: 60,736,687 (GRCm39) M420L probably benign Het
Tmem116 A C 5: 121,655,955 (GRCm39) *147C probably null Het
Top2b G A 14: 16,423,779 (GRCm38) probably null Het
Trp53bp2 T A 1: 182,283,305 (GRCm39) C1014S probably damaging Het
Unc5b A G 10: 60,601,139 (GRCm39) F896L probably damaging Het
Vil1 T C 1: 74,459,026 (GRCm39) W177R probably damaging Het
Vmn2r107 A T 17: 20,595,316 (GRCm39) Y623F probably benign Het
Vmn2r86 T C 10: 130,289,535 (GRCm39) Y120C probably damaging Het
Ylpm1 A G 12: 85,076,064 (GRCm39) M472V probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp677 A G 17: 21,617,918 (GRCm39) Y325C probably damaging Het
Zfyve1 A G 12: 83,605,478 (GRCm39) F407S probably damaging Het
Other mutations in Wdr18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Wdr18 APN 10 79,801,106 (GRCm39) missense probably damaging 1.00
IGL02812:Wdr18 APN 10 79,796,898 (GRCm39) missense possibly damaging 0.68
IGL02949:Wdr18 APN 10 79,800,889 (GRCm39) missense probably benign 0.00
R0066:Wdr18 UTSW 10 79,796,937 (GRCm39) nonsense probably null
R0066:Wdr18 UTSW 10 79,796,937 (GRCm39) nonsense probably null
R0244:Wdr18 UTSW 10 79,802,242 (GRCm39) missense probably damaging 1.00
R0257:Wdr18 UTSW 10 79,796,953 (GRCm39) splice site probably benign
R0377:Wdr18 UTSW 10 79,803,336 (GRCm39) missense probably benign 0.40
R1844:Wdr18 UTSW 10 79,802,561 (GRCm39) critical splice donor site probably null
R4179:Wdr18 UTSW 10 79,800,875 (GRCm39) missense probably damaging 1.00
R4674:Wdr18 UTSW 10 79,801,069 (GRCm39) missense probably benign
R5573:Wdr18 UTSW 10 79,800,872 (GRCm39) missense probably benign
R6455:Wdr18 UTSW 10 79,801,115 (GRCm39) missense probably damaging 1.00
R7042:Wdr18 UTSW 10 79,801,944 (GRCm39) missense probably benign 0.22
R7223:Wdr18 UTSW 10 79,796,202 (GRCm39) missense probably damaging 1.00
R7316:Wdr18 UTSW 10 79,801,059 (GRCm39) missense probably benign 0.00
R7777:Wdr18 UTSW 10 79,801,884 (GRCm39) missense probably benign 0.06
R9117:Wdr18 UTSW 10 79,801,154 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTACTGAGGTATCCCATTCTTGG -3'
(R):5'- TGGGAATTTCCAGCAGACAGG -3'

Sequencing Primer
(F):5'- TTGGGGAGGCAGGCCAG -3'
(R):5'- AGACAGGCTGGACAGTCC -3'
Posted On 2017-06-26