Incidental Mutation 'R1329:Wdr47'
ID 156109
Institutional Source Beutler Lab
Gene Symbol Wdr47
Ensembl Gene ENSMUSG00000040389
Gene Name WD repeat domain 47
Synonyms nemitin, 1810073M12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1329 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 108498595-108553035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108534615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 511 (N511K)
Ref Sequence ENSEMBL: ENSMUSP00000057482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051145]
AlphaFold Q8CGF6
Predicted Effect probably benign
Transcript: ENSMUST00000051145
AA Change: N511K

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: N511K

DomainStartEndE-ValueType
LisH 10 42 8.87e-4 SMART
CTLH 45 102 1.93e-13 SMART
low complexity region 137 146 N/A INTRINSIC
low complexity region 226 254 N/A INTRINSIC
coiled coil region 414 455 N/A INTRINSIC
low complexity region 506 523 N/A INTRINSIC
WD40 597 635 7e-4 SMART
WD40 648 690 5.18e-7 SMART
WD40 698 742 2.28e2 SMART
WD40 745 783 9.38e-5 SMART
WD40 790 829 1.31e-3 SMART
WD40 832 871 1.28e-6 SMART
WD40 878 917 7.39e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197398
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot7 C T 4: 152,314,241 (GRCm39) Q188* probably null Het
Ano5 T C 7: 51,196,533 (GRCm39) Y141H probably benign Het
Atg101 G A 15: 101,188,171 (GRCm39) G92D probably null Het
Brwd1 A G 16: 95,804,434 (GRCm39) I1912T probably benign Het
Cad G T 5: 31,216,926 (GRCm39) G263W probably damaging Het
Clstn2 T C 9: 97,340,227 (GRCm39) E715G probably damaging Het
Cracd A G 5: 76,805,779 (GRCm39) probably benign Het
Dbp C T 7: 45,357,752 (GRCm39) P70S probably damaging Het
Fem1al T A 11: 29,773,553 (GRCm39) N635Y probably benign Het
Gpr61 T A 3: 108,057,830 (GRCm39) H277L probably benign Het
Gsdma3 G T 11: 98,523,218 (GRCm39) V203F probably damaging Het
Ifih1 G C 2: 62,447,831 (GRCm39) probably null Het
Myo1e T A 9: 70,246,020 (GRCm39) C404S possibly damaging Het
Myrfl A G 10: 116,613,247 (GRCm39) probably null Het
Nfat5 T G 8: 108,095,659 (GRCm39) M1300R probably benign Het
Nfrkb C T 9: 31,325,943 (GRCm39) P1129S possibly damaging Het
Nubp2 A T 17: 25,102,838 (GRCm39) N208K possibly damaging Het
Or8g20 A G 9: 39,395,740 (GRCm39) S270P probably damaging Het
Ovch2 T C 7: 107,384,653 (GRCm39) D488G probably damaging Het
Rfx6 A T 10: 51,569,833 (GRCm39) Y202F probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Usp4 T A 9: 108,249,765 (GRCm39) V431E probably damaging Het
Vil1 A G 1: 74,466,717 (GRCm39) I636V probably benign Het
Vmn2r116 A G 17: 23,606,162 (GRCm39) N358S possibly damaging Het
Wdr5 T A 2: 27,421,683 (GRCm39) F222I probably damaging Het
Other mutations in Wdr47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00576:Wdr47 APN 3 108,526,050 (GRCm39) missense probably benign 0.04
IGL01730:Wdr47 APN 3 108,518,712 (GRCm39) missense probably damaging 1.00
IGL01821:Wdr47 APN 3 108,534,520 (GRCm39) missense probably damaging 1.00
IGL03367:Wdr47 APN 3 108,537,089 (GRCm39) splice site probably benign
R0025:Wdr47 UTSW 3 108,545,307 (GRCm39) missense probably damaging 1.00
R0217:Wdr47 UTSW 3 108,544,336 (GRCm39) missense probably damaging 0.96
R0733:Wdr47 UTSW 3 108,525,939 (GRCm39) missense probably damaging 1.00
R1330:Wdr47 UTSW 3 108,537,069 (GRCm39) missense probably benign 0.30
R1894:Wdr47 UTSW 3 108,530,692 (GRCm39) missense possibly damaging 0.56
R2004:Wdr47 UTSW 3 108,534,758 (GRCm39) nonsense probably null
R2040:Wdr47 UTSW 3 108,530,688 (GRCm39) missense probably benign 0.01
R2242:Wdr47 UTSW 3 108,526,431 (GRCm39) missense probably damaging 1.00
R3795:Wdr47 UTSW 3 108,532,053 (GRCm39) critical splice donor site probably null
R5026:Wdr47 UTSW 3 108,525,838 (GRCm39) nonsense probably null
R5732:Wdr47 UTSW 3 108,540,472 (GRCm39) nonsense probably null
R5823:Wdr47 UTSW 3 108,550,401 (GRCm39) missense probably damaging 1.00
R5838:Wdr47 UTSW 3 108,532,052 (GRCm39) critical splice donor site probably null
R5890:Wdr47 UTSW 3 108,517,328 (GRCm39) missense probably damaging 1.00
R5896:Wdr47 UTSW 3 108,526,322 (GRCm39) missense probably damaging 1.00
R5898:Wdr47 UTSW 3 108,545,201 (GRCm39) splice site probably null
R6778:Wdr47 UTSW 3 108,540,412 (GRCm39) missense probably benign 0.16
R7019:Wdr47 UTSW 3 108,521,671 (GRCm39) nonsense probably null
R7051:Wdr47 UTSW 3 108,525,840 (GRCm39) missense probably damaging 1.00
R7535:Wdr47 UTSW 3 108,537,027 (GRCm39) missense probably benign 0.01
R7642:Wdr47 UTSW 3 108,550,480 (GRCm39) missense possibly damaging 0.47
R7709:Wdr47 UTSW 3 108,525,837 (GRCm39) missense probably damaging 1.00
R8048:Wdr47 UTSW 3 108,526,284 (GRCm39) missense probably damaging 0.99
R8868:Wdr47 UTSW 3 108,498,841 (GRCm39) start gained probably benign
R8944:Wdr47 UTSW 3 108,550,480 (GRCm39) missense possibly damaging 0.47
R9123:Wdr47 UTSW 3 108,526,106 (GRCm39) missense probably damaging 1.00
R9125:Wdr47 UTSW 3 108,526,106 (GRCm39) missense probably damaging 1.00
R9217:Wdr47 UTSW 3 108,525,890 (GRCm39) missense probably damaging 1.00
R9268:Wdr47 UTSW 3 108,525,812 (GRCm39) missense probably benign
R9485:Wdr47 UTSW 3 108,544,371 (GRCm39) missense probably damaging 1.00
R9611:Wdr47 UTSW 3 108,518,729 (GRCm39) missense probably damaging 1.00
X0062:Wdr47 UTSW 3 108,526,374 (GRCm39) missense probably benign 0.01
Z1177:Wdr47 UTSW 3 108,526,430 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCCGTGAGAGTGGCAAATGATAG -3'
(R):5'- CTGGCTTCCACAAGGTGAGTCTTC -3'

Sequencing Primer
(F):5'- AAACCTGTCTCCTTTACAGTGTG -3'
(R):5'- CATGAAAAGGGATGTGATTCGTTG -3'
Posted On 2014-02-11