Incidental Mutation 'R4179:Wdr18'
ID 319642
Institutional Source Beutler Lab
Gene Symbol Wdr18
Ensembl Gene ENSMUSG00000035754
Gene Name WD repeat domain 18
Synonyms 2310012I10Rik
MMRRC Submission 041015-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4179 (G1)
Quality Score 186
Status Not validated
Chromosome 10
Chromosomal Location 79795989-79805081 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79800875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 146 (L146P)
Ref Sequence ENSEMBL: ENSMUSP00000041049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045247]
AlphaFold Q4VBE8
Predicted Effect probably damaging
Transcript: ENSMUST00000045247
AA Change: L146P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041049
Gene: ENSMUSG00000035754
AA Change: L146P

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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
Adam34 T C 8: 44,104,128 (GRCm39) M506V probably benign Het
Ano1 A T 7: 144,204,242 (GRCm39) M290K probably damaging Het
Arrdc2 A T 8: 71,289,821 (GRCm39) L34Q probably damaging Het
Cdadc1 G T 14: 59,829,935 (GRCm39) T77N probably benign Het
Cmtr2 C G 8: 110,947,669 (GRCm39) probably null Het
Cnot2 A T 10: 116,334,048 (GRCm39) V374E possibly damaging Het
Crnn T C 3: 93,054,120 (GRCm39) M1T probably null Het
Ctsb A G 14: 63,370,901 (GRCm39) N38D probably benign Het
Dock10 A C 1: 80,488,134 (GRCm39) S2010A probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Eci1 T C 17: 24,655,251 (GRCm39) W119R probably damaging Het
Foxo1 C A 3: 52,252,840 (GRCm39) D334E probably benign Het
Gck T C 11: 5,860,295 (GRCm39) T116A probably benign Het
Gcn1 T C 5: 115,726,109 (GRCm39) V588A probably benign Het
Gm7168 A G 17: 14,169,265 (GRCm39) I211V probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Jag1 A G 2: 136,943,578 (GRCm39) F206S probably damaging Het
Loxl3 G A 6: 83,014,565 (GRCm39) V158I probably benign Het
Ly6g A G 15: 75,027,567 (GRCm39) probably null Het
Myo1b A G 1: 51,817,685 (GRCm39) F532L probably damaging Het
Naip1 T A 13: 100,562,684 (GRCm39) N827I probably damaging Het
Nlrp9c G A 7: 26,084,086 (GRCm39) H498Y possibly damaging Het
Or10d1b A G 9: 39,613,387 (GRCm39) I226T probably benign Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pcdha2 T A 18: 37,074,529 (GRCm39) L720Q probably damaging Het
Pcdhb9 T A 18: 37,534,168 (GRCm39) M54K probably benign Het
Pde2a A G 7: 101,130,590 (GRCm39) *71W probably null Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Pkhd1l1 A C 15: 44,387,045 (GRCm39) Y1306S probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkd1 C A 12: 50,413,231 (GRCm39) G647C probably damaging Het
Ptch1 C T 13: 63,682,143 (GRCm39) R537H probably damaging Het
Qser1 A G 2: 104,606,729 (GRCm39) I1510T probably benign Het
Ranbp3l T C 15: 9,057,279 (GRCm39) I314T possibly damaging Het
Rgs9 C A 11: 109,172,274 (GRCm39) probably null Het
Riok1 T C 13: 38,232,931 (GRCm39) F216L probably damaging Het
Rrm1 T A 7: 102,106,405 (GRCm39) I308N probably damaging Het
Serpina1f A T 12: 103,658,179 (GRCm39) M242K probably benign Het
Smox G A 2: 131,366,770 (GRCm39) M576I possibly damaging Het
Spaca7 A T 8: 12,636,435 (GRCm39) N87I probably damaging Het
Spink5 A T 18: 44,120,934 (GRCm39) Q296L probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Sult2b1 T A 7: 45,384,735 (GRCm39) I114F probably damaging Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsen54 T C 11: 115,711,678 (GRCm39) V365A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Usp47 T C 7: 111,687,091 (GRCm39) L683P probably damaging Het
Zfp709 A G 8: 72,643,750 (GRCm39) Y392C probably damaging Het
Zranb3 A T 1: 127,888,601 (GRCm39) I828N possibly 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
R4674:Wdr18 UTSW 10 79,801,069 (GRCm39) missense probably benign
R5573:Wdr18 UTSW 10 79,800,872 (GRCm39) missense probably benign
R6007:Wdr18 UTSW 10 79,801,177 (GRCm39) missense possibly damaging 0.94
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'- TCCTGGTTCCATATGCCAATG -3'
(R):5'- ACATGTCTTGGGGCAAGGATC -3'

Sequencing Primer
(F):5'- CAATGGCCCTGGAGCAG -3'
(R):5'- ATCCTGGATGGGTCTGCC -3'
Posted On 2015-06-10