Incidental Mutation 'R1144:Wdr59'
ID102286
Institutional Source Beutler Lab
Gene Symbol Wdr59
Ensembl Gene ENSMUSG00000031959
Gene NameWD repeat domain 59
Synonyms5430401O09Rik
MMRRC Submission 039217-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1144 (G1)
Quality Score225
Status Validated
Chromosome8
Chromosomal Location111448797-111522092 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 111486944 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 313 (M313K)
Ref Sequence ENSEMBL: ENSMUSP00000043671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034437] [ENSMUST00000038193] [ENSMUST00000211981]
Predicted Effect probably benign
Transcript: ENSMUST00000034437
AA Change: M313K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034437
Gene: ENSMUSG00000031959
AA Change: M313K

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 benign
Transcript: ENSMUST00000038193
AA Change: M313K

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000043671
Gene: ENSMUSG00000031959
AA Change: M313K

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 probably benign
Transcript: ENSMUST00000211981
AA Change: M313K

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212327
Meta Mutation Damage Score 0.3443 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 120,360,860 probably benign Het
Abcc5 A T 16: 20,422,438 probably benign Het
Acsl5 A C 19: 55,291,843 D516A probably damaging Het
Adcy1 G A 11: 7,137,400 A425T probably damaging Het
Aebp1 A G 11: 5,868,475 T107A probably benign Het
Arhgef33 T C 17: 80,355,044 S219P probably benign Het
Atm T G 9: 53,511,698 probably benign Het
C1ql2 A C 1: 120,342,537 Y276S probably damaging Het
Cacna2d1 T C 5: 16,322,597 probably null Het
Cmbl A G 15: 31,581,874 N6D probably benign Het
Cntn3 A G 6: 102,242,126 V511A possibly damaging Het
Coq9 C A 8: 94,842,623 R28S probably benign Het
Creld1 T C 6: 113,483,961 F20S probably benign Het
Dcstamp A G 15: 39,760,368 K404E possibly damaging Het
Dip2b T A 15: 100,154,250 I244K probably benign Het
Dnhd1 G A 7: 105,713,031 E3700K probably damaging Het
Dnmt3l T A 10: 78,051,905 C110S probably damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fgfr1 T G 8: 25,558,143 V172G probably damaging Het
Frem3 C A 8: 80,611,884 Q269K probably benign Het
Frmd6 C A 12: 70,877,168 H67N probably damaging Het
Fry A G 5: 150,418,464 T1532A possibly damaging Het
Git2 G T 5: 114,753,314 S243R probably benign Het
Grid1 A G 14: 35,562,676 probably benign Het
Grp A G 18: 65,879,970 D69G probably damaging Het
Hmbox1 A T 14: 64,825,683 L347Q probably damaging Het
Hrasls5 A G 19: 7,613,330 D74G probably benign Het
Hsh2d C T 8: 72,193,592 probably benign Het
Itpr3 G A 17: 27,114,923 S2018N probably benign Het
Kif13b T A 14: 64,714,117 V69D probably benign Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Lmcd1 T A 6: 112,310,751 probably benign Het
Megf9 C A 4: 70,534,624 A67S probably benign Het
Myo5b G A 18: 74,625,587 R213H probably damaging Het
Myo5c T A 9: 75,286,448 Y1162N probably damaging Het
Nphs1 A G 7: 30,481,678 probably benign Het
Ntrk1 G A 3: 87,781,542 T568I probably damaging Het
Pcmtd1 A G 1: 7,120,481 H58R probably damaging Het
Plxna4 A T 6: 32,197,156 I1168N possibly damaging Het
Ppm1h A G 10: 122,941,278 D483G probably benign Het
Prdm15 G A 16: 97,808,708 R579C probably damaging Het
Prickle1 T A 15: 93,512,461 R41W probably damaging Het
Rbm19 A G 5: 120,123,016 D235G possibly damaging Het
Smco2 A G 6: 146,871,140 probably benign Het
Sned1 G C 1: 93,280,576 G785R probably damaging Het
Stat4 A G 1: 52,084,129 probably benign Het
Syne2 T A 12: 75,966,524 F2830I probably benign Het
Tbc1d9 A G 8: 83,236,571 D304G possibly damaging Het
Thsd7a G A 6: 12,471,027 probably benign Het
Tmem63b T A 17: 45,666,427 K383N probably benign Het
Trp53rka C A 2: 165,493,041 probably benign Het
Trub1 G A 19: 57,485,131 V207M probably benign Het
Ulk2 A T 11: 61,800,060 C551S possibly damaging Het
Urb1 A T 16: 90,776,318 probably null Het
Vmn1r219 C A 13: 23,163,213 Q191K probably damaging Het
Vmn2r1 A T 3: 64,090,120 D399V probably damaging Het
Vmn2r87 A G 10: 130,476,229 probably benign Het
Wars A T 12: 108,888,365 L41* probably null Het
Washc2 G A 6: 116,224,534 E64K probably damaging Het
Washc4 G A 10: 83,580,330 R828Q probably damaging Het
Wscd2 G A 5: 113,561,090 probably null Het
Zdhhc20 A C 14: 57,856,678 L176V probably benign Het
Other mutations in Wdr59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00737:Wdr59 APN 8 111458736 missense probably damaging 0.98
IGL01330:Wdr59 APN 8 111481933 missense possibly damaging 0.87
IGL01413:Wdr59 APN 8 111501074 missense probably benign 0.23
IGL02306:Wdr59 APN 8 111492733 missense probably damaging 1.00
IGL03027:Wdr59 APN 8 111462192 missense probably damaging 1.00
IGL03057:Wdr59 APN 8 111476118 missense probably damaging 1.00
IGL03204:Wdr59 APN 8 111485370 missense probably benign 0.05
electron UTSW 8 111458638 missense probably benign 0.00
photon UTSW 8 111460813 missense probably benign 0.00
R0056:Wdr59 UTSW 8 111480607 splice site probably benign
R0096:Wdr59 UTSW 8 111504373 missense probably damaging 1.00
R0096:Wdr59 UTSW 8 111504373 missense probably damaging 1.00
R0440:Wdr59 UTSW 8 111480540 small deletion probably benign
R0452:Wdr59 UTSW 8 111521972 missense possibly damaging 0.87
R0472:Wdr59 UTSW 8 111486997 critical splice acceptor site probably null
R0501:Wdr59 UTSW 8 111458947 missense possibly damaging 0.90
R0526:Wdr59 UTSW 8 111480540 small deletion probably benign
R0534:Wdr59 UTSW 8 111480540 small deletion probably benign
R0601:Wdr59 UTSW 8 111480540 small deletion probably benign
R1415:Wdr59 UTSW 8 111498596 missense probably damaging 1.00
R1571:Wdr59 UTSW 8 111451050 missense probably damaging 0.98
R1661:Wdr59 UTSW 8 111479362 missense probably damaging 1.00
R1665:Wdr59 UTSW 8 111479362 missense probably damaging 1.00
R1839:Wdr59 UTSW 8 111485340 missense probably benign
R1856:Wdr59 UTSW 8 111476181 missense probably damaging 1.00
R1872:Wdr59 UTSW 8 111459017 missense probably damaging 1.00
R1921:Wdr59 UTSW 8 111486950 nonsense probably null
R1965:Wdr59 UTSW 8 111451077 missense probably damaging 1.00
R1966:Wdr59 UTSW 8 111450903 missense possibly damaging 0.92
R1977:Wdr59 UTSW 8 111458638 missense probably benign 0.00
R2019:Wdr59 UTSW 8 111466793 missense probably damaging 1.00
R4245:Wdr59 UTSW 8 111490364 missense possibly damaging 0.63
R4471:Wdr59 UTSW 8 111466787 critical splice donor site probably null
R4820:Wdr59 UTSW 8 111480814 missense probably benign 0.19
R5198:Wdr59 UTSW 8 111481988 missense probably benign 0.00
R5540:Wdr59 UTSW 8 111485184 missense possibly damaging 0.84
R5571:Wdr59 UTSW 8 111465831 missense probably damaging 1.00
R6166:Wdr59 UTSW 8 111472661 missense probably damaging 1.00
R6732:Wdr59 UTSW 8 111501052 missense probably damaging 1.00
R6767:Wdr59 UTSW 8 111476101 missense probably damaging 1.00
R6823:Wdr59 UTSW 8 111459040 missense possibly damaging 0.95
R6841:Wdr59 UTSW 8 111496880 missense probably damaging 1.00
R6888:Wdr59 UTSW 8 111451043 missense probably benign 0.00
R6974:Wdr59 UTSW 8 111460788 missense possibly damaging 0.86
R6982:Wdr59 UTSW 8 111460813 missense probably benign 0.00
R7066:Wdr59 UTSW 8 111465845 missense probably benign 0.07
R7154:Wdr59 UTSW 8 111458735 missense
R7176:Wdr59 UTSW 8 111492756 missense
R7286:Wdr59 UTSW 8 111465862 missense
R7332:Wdr59 UTSW 8 111494354 missense
R7537:Wdr59 UTSW 8 111490369 missense
R7614:Wdr59 UTSW 8 111492762 missense
R7758:Wdr59 UTSW 8 111480485 missense
R7800:Wdr59 UTSW 8 111521938 missense
R7861:Wdr59 UTSW 8 111494280 missense
R7944:Wdr59 UTSW 8 111494280 missense
R7990:Wdr59 UTSW 8 111460756 splice site probably null
X0026:Wdr59 UTSW 8 111479340 missense possibly damaging 0.95
Predicted Primers
Posted On2014-01-15