Incidental Mutation 'R1965:Wdr59'
ID 218290
Institutional Source Beutler Lab
Gene Symbol Wdr59
Ensembl Gene ENSMUSG00000031959
Gene Name WD repeat domain 59
Synonyms 5430401O09Rik
MMRRC Submission 039978-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1965 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 112175429-112248724 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112177709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 898 (F898L)
Ref Sequence ENSEMBL: ENSMUSP00000043671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034437
AA Change: F917L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: F917L

DomainStartEndE-ValueType
WD40 41 91 1.37e2 SMART
WD40 94 134 9.52e-6 SMART
WD40 138 176 4.46e-1 SMART
WD40 180 220 2.59e-7 SMART
WD40 271 315 8.59e-1 SMART
RWD 393 494 4.13e-14 SMART
low complexity region 620 632 N/A INTRINSIC
low complexity region 802 813 N/A INTRINSIC
Blast:RING 941 980 3e-10 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000038193
AA Change: F898L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: F898L

DomainStartEndE-ValueType
WD40 41 91 1.37e2 SMART
WD40 94 134 9.52e-6 SMART
WD40 138 176 4.46e-1 SMART
WD40 180 220 2.59e-7 SMART
WD40 271 315 8.59e-1 SMART
RWD 393 494 4.13e-14 SMART
low complexity region 803 814 N/A INTRINSIC
Pfam:Zn_ribbon_17 937 992 2e-14 PFAM
Pfam:zinc_ribbon_16 949 990 1.6e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184608
Predicted Effect probably damaging
Transcript: ENSMUST00000211981
AA Change: F915L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T G 4: 40,175,730 (GRCm39) L157R probably damaging Het
Acot11 A T 4: 106,606,550 (GRCm39) L513Q probably damaging Het
Amd1 A G 10: 40,170,755 (GRCm39) I52T probably benign Het
Ap2b1 T C 11: 83,237,721 (GRCm39) I557T probably benign Het
Arel1 T A 12: 84,987,173 (GRCm39) probably null Het
Arg1 T A 10: 24,792,762 (GRCm39) probably null Het
Atf1 A T 15: 100,152,052 (GRCm39) M135L probably benign Het
Atf2 T C 2: 73,681,242 (GRCm39) E77G possibly damaging Het
Axin1 G T 17: 26,403,199 (GRCm39) A394S probably damaging Het
Axin1 A T 17: 26,409,202 (GRCm39) Q734L probably damaging Het
Brd8 G C 18: 34,735,819 (GRCm39) A886G probably damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Celf3 T C 3: 94,392,634 (GRCm39) V35A probably damaging Het
Cfap299 T A 5: 98,494,093 (GRCm39) D32E probably damaging Het
Ckap2 T C 8: 22,665,803 (GRCm39) T415A possibly damaging Het
Crybg3 T C 16: 59,323,600 (GRCm39) Y1066C probably damaging Het
Csmd3 T C 15: 47,713,144 (GRCm39) H1506R probably benign Het
Dnah10 A G 5: 124,852,267 (GRCm39) D1808G probably damaging Het
Dsc3 C T 18: 20,113,729 (GRCm39) G398R probably damaging Het
Emc2 A G 15: 43,390,863 (GRCm39) Q293R probably damaging Het
Evc2 A G 5: 37,520,876 (GRCm39) N251D possibly damaging Het
Fam151a A T 4: 106,591,112 (GRCm39) probably benign Het
Fbxw16 T A 9: 109,270,289 (GRCm39) I151F probably damaging Het
Fmnl2 A G 2: 53,004,880 (GRCm39) D658G probably damaging Het
Fnip2 G A 3: 79,400,779 (GRCm39) T314I probably benign Het
Foxc2 T A 8: 121,843,413 (GRCm39) S20R probably damaging Het
Fpr-rs6 C T 17: 20,402,918 (GRCm39) G148R probably damaging Het
Fsip2 T C 2: 82,823,124 (GRCm39) S6286P possibly damaging Het
Fyb2 A T 4: 104,770,846 (GRCm39) I54F probably benign Het
Gbf1 T C 19: 46,260,003 (GRCm39) F999L probably damaging Het
Gldc G A 19: 30,114,513 (GRCm39) R466* probably null Het
Gm12695 T A 4: 96,651,082 (GRCm39) S124C probably benign Het
Gm4846 A T 1: 166,314,533 (GRCm39) I370N possibly damaging Het
Gsdmc3 T C 15: 63,730,296 (GRCm39) T423A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnmb3 T C 3: 32,526,492 (GRCm39) Y233C probably damaging Het
Kidins220 A G 12: 25,044,905 (GRCm39) D191G probably damaging Het
Kmt2a A G 9: 44,732,757 (GRCm39) probably benign Het
Krt1 T C 15: 101,757,427 (GRCm39) D261G probably benign Het
Lrba A G 3: 86,513,175 (GRCm39) probably null Het
Myo1f C T 17: 33,817,146 (GRCm39) R730* probably null Het
Ncoa7 C A 10: 30,530,426 (GRCm39) E30* probably null Het
Neurod4 T A 10: 130,106,918 (GRCm39) K119* probably null Het
Npy5r T C 8: 67,133,929 (GRCm39) D288G probably benign Het
Nr3c2 A T 8: 77,636,092 (GRCm39) I398L probably damaging Het
Or10a5 T C 7: 106,635,565 (GRCm39) S68P probably damaging Het
Or12j4 C A 7: 140,046,574 (GRCm39) F153L probably benign Het
Or4b1 T C 2: 89,979,748 (GRCm39) S201G probably damaging Het
Or4k35 T C 2: 111,099,938 (GRCm39) Y258C probably damaging Het
Or51v8 A T 7: 103,320,103 (GRCm39) I45N probably damaging Het
Or5g25 T C 2: 85,478,090 (GRCm39) T192A possibly damaging Het
Or5w8 A G 2: 87,687,759 (GRCm39) K80R probably benign Het
Or9m1b A G 2: 87,836,648 (GRCm39) F149S probably damaging Het
P3r3urf G A 4: 116,031,376 (GRCm39) C82Y probably damaging Het
Pcf11 A T 7: 92,310,809 (GRCm39) M393K probably benign Het
Pck2 T C 14: 55,779,964 (GRCm39) V71A probably benign Het
Pdzd8 G T 19: 59,288,554 (GRCm39) L949I probably benign Het
Pdzrn4 G A 15: 92,644,190 (GRCm39) probably null Het
Phospho1 A G 11: 95,721,705 (GRCm39) N125S probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Ppid A T 3: 79,509,606 (GRCm39) K308* probably null Het
Ppp1r1b A G 11: 98,246,189 (GRCm39) E57G probably damaging Het
Prtg T G 9: 72,755,604 (GRCm39) S269A probably benign Het
Rbbp5 T A 1: 132,422,035 (GRCm39) S312T probably damaging Het
Rbm11 T A 16: 75,395,656 (GRCm39) probably null Het
Retreg1 A G 15: 25,970,250 (GRCm39) T139A probably damaging Het
Riok3 T A 18: 12,270,019 (GRCm39) H120Q probably damaging Het
Rln1 A T 19: 29,311,995 (GRCm39) M1K probably null Het
Rpp30 C T 19: 36,066,549 (GRCm39) S94L probably damaging Het
Sccpdh C T 1: 179,511,879 (GRCm39) P117L probably damaging Het
Serac1 T C 17: 6,099,274 (GRCm39) K506E possibly damaging Het
Serping1 G T 2: 84,596,072 (GRCm39) T454K probably damaging Het
Slc1a2 T A 2: 102,570,245 (GRCm39) N174K probably damaging Het
Slc2a2 A G 3: 28,773,634 (GRCm39) Q313R probably damaging Het
Slc46a2 T A 4: 59,914,249 (GRCm39) S225C probably damaging Het
Smarcc2 G A 10: 128,310,627 (GRCm39) E419K probably damaging Het
Stkld1 T A 2: 26,836,744 (GRCm39) probably null Het
Szt2 A G 4: 118,241,162 (GRCm39) M1704T probably benign Het
Tasor T G 14: 27,164,511 (GRCm39) C272W probably damaging Het
Tfcp2l1 C T 1: 118,580,653 (GRCm39) Q116* probably null Het
Timm44 A G 8: 4,310,603 (GRCm39) M383T possibly damaging Het
Tnpo2 G A 8: 85,771,946 (GRCm39) probably null Het
Tnrc6b A G 15: 80,764,640 (GRCm39) K714R probably damaging Het
Wdfy3 A G 5: 102,099,178 (GRCm39) L290P probably damaging Het
Zfp120 A T 2: 149,959,318 (GRCm39) C335S probably damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp879 A T 11: 50,724,355 (GRCm39) C234S probably damaging Het
Other mutations in Wdr59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr59 APN 8 112,185,368 (GRCm39) missense probably damaging 0.98
IGL01330:Wdr59 APN 8 112,208,565 (GRCm39) missense possibly damaging 0.87
IGL01413:Wdr59 APN 8 112,227,706 (GRCm39) missense probably benign 0.23
IGL02306:Wdr59 APN 8 112,219,365 (GRCm39) missense probably damaging 1.00
IGL03027:Wdr59 APN 8 112,188,824 (GRCm39) missense probably damaging 1.00
IGL03057:Wdr59 APN 8 112,202,750 (GRCm39) missense probably damaging 1.00
IGL03204:Wdr59 APN 8 112,212,002 (GRCm39) missense probably benign 0.05
electron UTSW 8 112,185,270 (GRCm39) missense probably benign 0.00
photon UTSW 8 112,187,445 (GRCm39) missense probably benign 0.00
R0056:Wdr59 UTSW 8 112,207,239 (GRCm39) splice site probably benign
R0096:Wdr59 UTSW 8 112,231,005 (GRCm39) missense probably damaging 1.00
R0096:Wdr59 UTSW 8 112,231,005 (GRCm39) missense probably damaging 1.00
R0440:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R0452:Wdr59 UTSW 8 112,248,604 (GRCm39) missense possibly damaging 0.87
R0472:Wdr59 UTSW 8 112,213,629 (GRCm39) critical splice acceptor site probably null
R0501:Wdr59 UTSW 8 112,185,579 (GRCm39) missense possibly damaging 0.90
R0526:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R0534:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R0601:Wdr59 UTSW 8 112,207,172 (GRCm39) small deletion probably benign
R1144:Wdr59 UTSW 8 112,213,576 (GRCm39) missense probably benign 0.09
R1415:Wdr59 UTSW 8 112,225,228 (GRCm39) missense probably damaging 1.00
R1571:Wdr59 UTSW 8 112,177,682 (GRCm39) missense probably damaging 0.98
R1661:Wdr59 UTSW 8 112,205,994 (GRCm39) missense probably damaging 1.00
R1665:Wdr59 UTSW 8 112,205,994 (GRCm39) missense probably damaging 1.00
R1839:Wdr59 UTSW 8 112,211,972 (GRCm39) missense probably benign
R1856:Wdr59 UTSW 8 112,202,813 (GRCm39) missense probably damaging 1.00
R1872:Wdr59 UTSW 8 112,185,649 (GRCm39) missense probably damaging 1.00
R1921:Wdr59 UTSW 8 112,213,582 (GRCm39) nonsense probably null
R1966:Wdr59 UTSW 8 112,177,535 (GRCm39) missense possibly damaging 0.92
R1977:Wdr59 UTSW 8 112,185,270 (GRCm39) missense probably benign 0.00
R2019:Wdr59 UTSW 8 112,193,425 (GRCm39) missense probably damaging 1.00
R4245:Wdr59 UTSW 8 112,216,996 (GRCm39) missense possibly damaging 0.63
R4471:Wdr59 UTSW 8 112,193,419 (GRCm39) critical splice donor site probably null
R4820:Wdr59 UTSW 8 112,207,446 (GRCm39) missense probably benign 0.19
R5198:Wdr59 UTSW 8 112,208,620 (GRCm39) missense probably benign 0.00
R5540:Wdr59 UTSW 8 112,211,816 (GRCm39) missense possibly damaging 0.84
R5571:Wdr59 UTSW 8 112,192,463 (GRCm39) missense probably damaging 1.00
R6166:Wdr59 UTSW 8 112,199,293 (GRCm39) missense probably damaging 1.00
R6732:Wdr59 UTSW 8 112,227,684 (GRCm39) missense probably damaging 1.00
R6767:Wdr59 UTSW 8 112,202,733 (GRCm39) missense probably damaging 1.00
R6823:Wdr59 UTSW 8 112,185,672 (GRCm39) missense possibly damaging 0.95
R6841:Wdr59 UTSW 8 112,223,512 (GRCm39) missense probably damaging 1.00
R6888:Wdr59 UTSW 8 112,177,675 (GRCm39) missense probably benign 0.00
R6974:Wdr59 UTSW 8 112,187,420 (GRCm39) missense possibly damaging 0.86
R6982:Wdr59 UTSW 8 112,187,445 (GRCm39) missense probably benign 0.00
R7066:Wdr59 UTSW 8 112,192,477 (GRCm39) missense probably benign 0.07
R7154:Wdr59 UTSW 8 112,185,367 (GRCm39) missense
R7176:Wdr59 UTSW 8 112,219,388 (GRCm39) missense
R7286:Wdr59 UTSW 8 112,192,494 (GRCm39) missense
R7332:Wdr59 UTSW 8 112,220,986 (GRCm39) missense
R7537:Wdr59 UTSW 8 112,217,001 (GRCm39) missense
R7614:Wdr59 UTSW 8 112,219,394 (GRCm39) missense
R7758:Wdr59 UTSW 8 112,207,117 (GRCm39) missense
R7800:Wdr59 UTSW 8 112,248,570 (GRCm39) missense
R7861:Wdr59 UTSW 8 112,220,912 (GRCm39) missense
R8137:Wdr59 UTSW 8 112,212,011 (GRCm39) missense
R8726:Wdr59 UTSW 8 112,223,466 (GRCm39) missense
R8942:Wdr59 UTSW 8 112,211,808 (GRCm39) missense probably benign
R9318:Wdr59 UTSW 8 112,177,700 (GRCm39) missense
X0026:Wdr59 UTSW 8 112,205,972 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTTAAGTTCAGAAGGTGCTCTCCA -3'
(R):5'- TTGCGTTACGTGGTTGACCA -3'

Sequencing Primer
(F):5'- TGGGACATACCTCCTGGG -3'
(R):5'- TTGACCAGGGAGAAAGAAAATGCATG -3'
Posted On 2014-08-01