Incidental Mutation 'R7725:Wdr43'
ID 595468
Institutional Source Beutler Lab
Gene Symbol Wdr43
Ensembl Gene ENSMUSG00000041057
Gene Name WD repeat domain 43
Synonyms 2610318G08Rik
MMRRC Submission 045781-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R7725 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 71923175-71966026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71923338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 28 (Y28C)
Ref Sequence ENSEMBL: ENSMUSP00000048337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047086]
AlphaFold Q6ZQL4
Predicted Effect probably benign
Transcript: ENSMUST00000047086
AA Change: Y28C

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000048337
Gene: ENSMUSG00000041057
AA Change: Y28C

DomainStartEndE-ValueType
WD40 8 42 4.42e1 SMART
WD40 45 110 2.2e2 SMART
WD40 113 154 7.85e-7 SMART
WD40 157 194 1.24e-4 SMART
WD40 197 249 5.52e0 SMART
Blast:WD40 256 299 1e-18 BLAST
low complexity region 320 334 N/A INTRINSIC
Pfam:Utp12 472 575 2.3e-23 PFAM
coiled coil region 635 663 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency 100% (41/41)
Allele List at MGI

All alleles(36) : Gene trapped(36)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa2 A T 9: 69,387,410 (GRCm39) K6N unknown Het
Arhgap20 T A 9: 51,743,050 (GRCm39) M296K possibly damaging Het
Bdh1 G A 16: 31,256,910 (GRCm39) V20I not run Het
Bop1 A G 15: 76,339,583 (GRCm39) I254T probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Cct4 A G 11: 22,940,814 (GRCm39) K21E probably benign Het
Cercam G A 2: 29,762,574 (GRCm39) probably null Het
Clip2 A T 5: 134,546,853 (GRCm39) Y238* probably null Het
Col19a1 A T 1: 24,309,525 (GRCm39) S1043T possibly damaging Het
Ctcf A G 8: 106,390,468 (GRCm39) Y25C probably damaging Het
Dennd4c C T 4: 86,704,330 (GRCm39) R282C probably benign Het
Eef1g T A 19: 8,955,427 (GRCm39) H425Q probably benign Het
Fam131b C T 6: 42,295,476 (GRCm39) A234T probably benign Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam187b A G 7: 30,677,139 (GRCm39) D216G possibly damaging Het
Gabra1 A T 11: 42,026,270 (GRCm39) Y341N possibly damaging Het
Glb1l3 T A 9: 26,739,659 (GRCm39) probably null Het
Gm3667 T A 14: 18,271,599 (GRCm39) Q52L probably damaging Het
Gpr179 C T 11: 97,242,118 (GRCm39) R242H probably damaging Het
Gulo T C 14: 66,245,522 (GRCm39) Y24C probably damaging Het
Hectd4 A T 5: 121,358,680 (GRCm39) E49V unknown Het
Htra4 A G 8: 25,527,169 (GRCm39) S209P possibly damaging Het
Lmntd1 A G 6: 145,489,196 (GRCm39) S22P probably benign Het
Lypd8l A T 11: 58,499,325 (GRCm39) N164K probably benign Het
Med12l A G 3: 59,163,413 (GRCm39) K1347E probably damaging Het
Mrc1 C A 2: 14,284,788 (GRCm39) D592E probably benign Het
Muc15 A G 2: 110,562,143 (GRCm39) D193G probably damaging Het
Ncor2 A G 5: 125,100,630 (GRCm39) V1316A Het
Odad1 T A 7: 45,597,835 (GRCm39) S582T probably damaging Het
Or2t43 A G 11: 58,457,593 (GRCm39) Y193H probably damaging Het
Or2y10 A T 11: 49,455,359 (GRCm39) I204L probably benign Het
Or5t16 T C 2: 86,819,323 (GRCm39) I66V probably benign Het
Serpina6 A T 12: 103,614,936 (GRCm39) Y303* probably null Het
Shld2 T G 14: 33,990,661 (GRCm39) T82P possibly damaging Het
Shroom3 T C 5: 93,089,512 (GRCm39) L754P probably benign Het
Skint5 C A 4: 113,685,099 (GRCm39) L539F unknown Het
St3gal4 C A 9: 34,964,375 (GRCm39) R209L possibly damaging Het
Tex14 A C 11: 87,385,868 (GRCm39) T243P probably damaging Het
Ttc12 T A 9: 49,351,602 (GRCm39) M632L probably benign Het
Ttn T C 2: 76,738,116 (GRCm39) E4187G unknown Het
Txk G A 5: 72,864,900 (GRCm39) A379V probably damaging Het
Zfp1005 A G 2: 150,110,468 (GRCm39) Y386C unknown Het
Zfp40 A G 17: 23,397,251 (GRCm39) V82A probably benign Het
Zfp994 A T 17: 22,419,091 (GRCm39) N619K probably benign Het
Other mutations in Wdr43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Wdr43 APN 17 71,959,809 (GRCm39) missense probably damaging 1.00
IGL02077:Wdr43 APN 17 71,947,286 (GRCm39) missense probably benign 0.00
IGL02114:Wdr43 APN 17 71,959,843 (GRCm39) missense probably benign 0.00
IGL02252:Wdr43 APN 17 71,933,845 (GRCm39) missense probably damaging 1.00
IGL02352:Wdr43 APN 17 71,939,043 (GRCm39) missense possibly damaging 0.90
IGL02359:Wdr43 APN 17 71,939,043 (GRCm39) missense possibly damaging 0.90
IGL03082:Wdr43 APN 17 71,945,336 (GRCm39) missense probably damaging 0.99
IGL03095:Wdr43 APN 17 71,948,282 (GRCm39) missense probably benign 0.28
IGL02837:Wdr43 UTSW 17 71,949,731 (GRCm39) missense probably benign 0.00
R0039:Wdr43 UTSW 17 71,960,487 (GRCm39) nonsense probably null
R0164:Wdr43 UTSW 17 71,938,992 (GRCm39) splice site probably benign
R0271:Wdr43 UTSW 17 71,933,820 (GRCm39) missense probably benign 0.00
R1117:Wdr43 UTSW 17 71,923,382 (GRCm39) missense probably benign 0.35
R1873:Wdr43 UTSW 17 71,940,647 (GRCm39) missense probably benign 0.05
R1973:Wdr43 UTSW 17 71,947,235 (GRCm39) missense probably benign 0.00
R3620:Wdr43 UTSW 17 71,957,601 (GRCm39) missense probably benign 0.13
R3922:Wdr43 UTSW 17 71,945,296 (GRCm39) splice site probably benign
R4097:Wdr43 UTSW 17 71,964,532 (GRCm39) missense probably benign
R5067:Wdr43 UTSW 17 71,933,849 (GRCm39) missense probably benign
R5282:Wdr43 UTSW 17 71,955,772 (GRCm39) missense probably damaging 1.00
R6251:Wdr43 UTSW 17 71,957,048 (GRCm39) splice site probably null
R6364:Wdr43 UTSW 17 71,964,649 (GRCm39) missense probably damaging 0.96
R7086:Wdr43 UTSW 17 71,923,434 (GRCm39) missense probably benign 0.02
R8104:Wdr43 UTSW 17 71,923,350 (GRCm39) missense probably benign 0.01
R8901:Wdr43 UTSW 17 71,932,461 (GRCm39) missense probably benign 0.00
R9648:Wdr43 UTSW 17 71,960,494 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCACGACCAGCCACTTCTTG -3'
(R):5'- GAGGCTTCGATGAACATGGC -3'

Sequencing Primer
(F):5'- ACTTCTTGGGCTCTCAGCG -3'
(R):5'- ATGAACATGGCGGCCCAG -3'
Posted On 2019-11-12