Incidental Mutation 'R6778:Wdr47'
ID 531362
Institutional Source Beutler Lab
Gene Symbol Wdr47
Ensembl Gene ENSMUSG00000040389
Gene Name WD repeat domain 47
Synonyms nemitin, 1810073M12Rik
MMRRC Submission 044894-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6778 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 108498595-108553035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108540412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 602 (N602K)
Ref Sequence ENSEMBL: ENSMUSP00000057482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051145]
AlphaFold Q8CGF6
Predicted Effect probably benign
Transcript: ENSMUST00000051145
AA Change: N602K

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000057482
Gene: ENSMUSG00000040389
AA Change: N602K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 T A 10: 61,061,231 (GRCm39) N403Y probably damaging Het
Akap6 A G 12: 53,072,599 (GRCm39) E989G probably damaging Het
Aoc2 A G 11: 101,216,187 (GRCm39) N90S probably damaging Het
Apol9a T C 15: 77,288,533 (GRCm39) Y278C probably benign Het
Casq2 T A 3: 102,035,247 (GRCm39) probably null Het
Ccdc7a T A 8: 129,547,601 (GRCm39) T1284S possibly damaging Het
Dlat A G 9: 50,562,157 (GRCm39) L289P probably damaging Het
Dnah8 C T 17: 30,854,640 (GRCm39) P101S probably benign Het
Dzip3 C A 16: 48,802,446 (GRCm39) A28S probably benign Het
Ffar4 A G 19: 38,102,112 (GRCm39) E249G possibly damaging Het
Fubp3 A T 2: 31,488,685 (GRCm39) K180N possibly damaging Het
Gm7489 T A 15: 53,749,348 (GRCm39) probably benign Het
Ifitm6 A T 7: 140,596,056 (GRCm39) M59K possibly damaging Het
Igkv4-80 A T 6: 68,993,545 (GRCm39) Y115* probably null Het
Igsf21 G T 4: 139,761,959 (GRCm39) R240S probably benign Het
Kank4 A T 4: 98,649,742 (GRCm39) N942K probably benign Het
Man2a1 C A 17: 65,021,630 (GRCm39) T35K possibly damaging Het
Mvk T A 5: 114,590,441 (GRCm39) D193E probably benign Het
Npas2 T A 1: 39,364,381 (GRCm39) M241K possibly damaging Het
Npsr1 T A 9: 24,165,914 (GRCm39) I100N possibly damaging Het
Olfml2b A G 1: 170,472,639 (GRCm39) D50G probably damaging Het
Or10d4c T A 9: 39,558,043 (GRCm39) V7E probably damaging Het
Pcnx1 A G 12: 81,965,645 (GRCm39) D604G probably damaging Het
Pitx2 C T 3: 129,012,392 (GRCm39) P254L probably damaging Het
Rdh10 T C 1: 16,176,408 (GRCm39) F56S probably damaging Het
Rin1 T C 19: 5,104,914 (GRCm39) L647P probably damaging Het
Sgk3 T A 1: 9,956,369 (GRCm39) probably null Het
Sgpp1 A G 12: 75,763,068 (GRCm39) I371T probably benign Het
Slc12a9 T C 5: 137,313,343 (GRCm39) Y872C possibly damaging Het
Spata31f3 T C 4: 42,868,522 (GRCm39) K367R possibly damaging Het
Syne1 A G 10: 5,052,406 (GRCm39) F7487L probably damaging Het
Tars1 T C 15: 11,389,785 (GRCm39) N375S probably benign Het
Tbc1d31 A G 15: 57,801,425 (GRCm39) Y320C probably damaging Het
Tbl1xr1 T A 3: 22,243,946 (GRCm39) F73L probably benign Het
Tmem145 G A 7: 25,010,801 (GRCm39) V378I probably benign Het
Tmprss11d T C 5: 86,457,209 (GRCm39) H150R probably benign Het
Tnc T G 4: 63,913,835 (GRCm39) I1326L probably benign Het
Trpc7 T C 13: 56,952,500 (GRCm39) Y502C probably damaging Het
Usp32 T C 11: 84,916,512 (GRCm39) I811V probably benign Het
Vmn1r71 C T 7: 10,482,143 (GRCm39) A182T probably benign 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
R1329:Wdr47 UTSW 3 108,534,615 (GRCm39) missense probably benign 0.14
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
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'- TTCCAGTTAAATGATGCACAGC -3'
(R):5'- GCAGTCAACAGAGCCAACTG -3'

Sequencing Primer
(F):5'- TGAACTTAGGTCCTCTACAAGAGC -3'
(R):5'- GAGCCAACTGCAGAACAAGGC -3'
Posted On 2018-08-29