Incidental Mutation 'R6815:Wdr41'
ID 537297
Institutional Source Beutler Lab
Gene Symbol Wdr41
Ensembl Gene ENSMUSG00000042015
Gene Name WD repeat domain 41
Synonyms MSTP048, B830029I03Rik
MMRRC Submission 044927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6815 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 95112852-95159822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95154682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 354 (K354N)
Ref Sequence ENSEMBL: ENSMUSP00000124033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056512] [ENSMUST00000159647] [ENSMUST00000160115] [ENSMUST00000160801] [ENSMUST00000167155]
AlphaFold Q3UDP0
Predicted Effect probably damaging
Transcript: ENSMUST00000056512
AA Change: K354N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
AA Change: K354N

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
WD40 211 249 2.86e0 SMART
WD40 308 350 7.92e-3 SMART
WD40 394 432 1.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159647
SMART Domains Protein: ENSMUSP00000138501
Gene: ENSMUSG00000042015

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
Blast:WD40 162 199 9e-6 BLAST
internal_repeat_1 233 260 6.23e-8 PROSPERO
internal_repeat_1 269 309 6.23e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000160115
SMART Domains Protein: ENSMUSP00000138543
Gene: ENSMUSG00000042015

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
Blast:WD40 162 199 1e-5 BLAST
internal_repeat_2 224 281 1.46e-11 PROSPERO
internal_repeat_1 233 315 2.35e-20 PROSPERO
internal_repeat_2 306 365 1.46e-11 PROSPERO
internal_repeat_1 353 435 2.35e-20 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000160801
AA Change: K354N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
AA Change: K354N

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
WD40 211 249 2.86e0 SMART
WD40 308 350 7.92e-3 SMART
WD40 394 432 1.67e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167155
SMART Domains Protein: ENSMUSP00000129595
Gene: ENSMUSG00000042015

DomainStartEndE-ValueType
WD40 32 70 4.48e-2 SMART
WD40 73 119 1.24e-4 SMART
WD40 122 159 1.28e1 SMART
Blast:WD40 162 199 9e-6 BLAST
internal_repeat_1 233 260 6.23e-8 PROSPERO
internal_repeat_1 269 309 6.23e-8 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein of unknown function, but which contains a WD40 domain consisting of six WD40 repeats. The WD40 domain is one of the most abundant protein domains in eukaryotes, and is found in proteins with widely varying cellular functions. However, proteins with this domain often provide a rigid scaffold for protein-protein interactions. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T G 14: 54,828,610 (GRCm39) N297T probably damaging Het
6820408C15Rik A G 2: 152,282,975 (GRCm39) N251S probably benign Het
Abcc5 T C 16: 20,152,380 (GRCm39) T1389A probably damaging Het
Acad11 A G 9: 103,958,526 (GRCm39) T265A probably benign Het
Ace3 C T 11: 105,888,084 (GRCm39) Q302* probably null Het
Aip A T 19: 4,166,066 (GRCm39) H128Q probably benign Het
Akr1b7 A T 6: 34,389,269 (GRCm39) probably null Het
Arid4a T A 12: 71,063,856 (GRCm39) probably null Het
Armh1 T A 4: 117,087,134 (GRCm39) H177L probably damaging Het
Aspm A G 1: 139,407,880 (GRCm39) T2256A probably benign Het
Bco1 A T 8: 117,840,261 (GRCm39) M260L probably benign Het
Ccdc110 A G 8: 46,395,024 (GRCm39) N305S probably benign Het
Ccdc158 T A 5: 92,760,345 (GRCm39) Y1035F probably damaging Het
Cd180 C T 13: 102,841,937 (GRCm39) L328F probably damaging Het
Cntrl T C 2: 35,039,503 (GRCm39) L1121P probably damaging Het
Cyp2u1 A C 3: 131,091,659 (GRCm39) I287S probably damaging Het
Dnah3 C T 7: 119,570,950 (GRCm39) M2195I probably benign Het
Dnajc21 C T 15: 10,447,777 (GRCm39) probably null Het
Dock10 C T 1: 80,516,576 (GRCm39) V1398M possibly damaging Het
Dpy19l3 T A 7: 35,449,272 (GRCm39) I44F possibly damaging Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc4 T C 16: 12,941,299 (GRCm39) I139T probably damaging Het
Gpr4 T A 7: 18,956,560 (GRCm39) F161I probably damaging Het
Gucy2e A C 11: 69,122,827 (GRCm39) L516R possibly damaging Het
Hdhd5 A G 6: 120,498,170 (GRCm39) V143A probably benign Het
Heatr4 T A 12: 84,026,501 (GRCm39) Q252L probably damaging Het
Heatr5a T G 12: 52,002,291 (GRCm39) D215A possibly damaging Het
Hipk2 G T 6: 38,795,777 (GRCm39) A164D probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Iqgap1 C T 7: 80,416,632 (GRCm39) probably null Het
Lrig1 A G 6: 94,602,010 (GRCm39) L281P probably damaging Het
Or10p22 A G 10: 128,826,191 (GRCm39) S137G probably benign Het
Or7g32 G T 9: 19,389,061 (GRCm39) H159N probably benign Het
Pcdha7 A G 18: 37,108,174 (GRCm39) T400A probably damaging Het
Pde5a A G 3: 122,618,573 (GRCm39) T629A probably benign Het
Pkhd1l1 A G 15: 44,426,051 (GRCm39) D3204G probably damaging Het
Prkd2 T C 7: 16,577,718 (GRCm39) F57S probably benign Het
Prr15l T C 11: 96,825,433 (GRCm39) V21A probably damaging Het
Rag2 T A 2: 101,460,900 (GRCm39) N403K probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rtl1 C A 12: 109,560,937 (GRCm39) D301Y probably damaging Het
Septin14 T C 5: 129,770,051 (GRCm39) N215S probably benign Het
Sin3a T A 9: 57,024,824 (GRCm39) D1061E probably benign Het
Skint5 T A 4: 113,574,324 (GRCm39) probably null Het
Stox2 A T 8: 47,646,136 (GRCm39) D441E probably damaging Het
Tmem52b G A 6: 129,493,705 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,292 (GRCm39) E62G probably benign Het
Trim54 G T 5: 31,291,424 (GRCm39) V182L probably damaging Het
Trmt6 A C 2: 132,651,778 (GRCm39) V214G probably damaging Het
Ttc21b T C 2: 66,057,134 (GRCm39) S613G probably benign Het
Ttll4 C A 1: 74,718,508 (GRCm39) R120S possibly damaging Het
Zfp652 A T 11: 95,640,230 (GRCm39) K52* probably null Het
Other mutations in Wdr41
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02096:Wdr41 APN 13 95,153,964 (GRCm39) unclassified probably benign
IGL02813:Wdr41 APN 13 95,131,753 (GRCm39) splice site probably null
gogi UTSW 13 95,151,725 (GRCm39) critical splice donor site probably null
metallica UTSW 13 95,151,682 (GRCm39) nonsense probably null
R0047:Wdr41 UTSW 13 95,146,795 (GRCm39) missense probably damaging 1.00
R0110:Wdr41 UTSW 13 95,154,619 (GRCm39) unclassified probably benign
R0243:Wdr41 UTSW 13 95,153,914 (GRCm39) missense probably damaging 1.00
R0537:Wdr41 UTSW 13 95,131,813 (GRCm39) splice site probably benign
R2025:Wdr41 UTSW 13 95,155,456 (GRCm39) missense probably damaging 1.00
R2116:Wdr41 UTSW 13 95,151,537 (GRCm39) critical splice acceptor site probably null
R3953:Wdr41 UTSW 13 95,133,571 (GRCm39) missense probably damaging 1.00
R4886:Wdr41 UTSW 13 95,151,682 (GRCm39) nonsense probably null
R5055:Wdr41 UTSW 13 95,151,725 (GRCm39) critical splice donor site probably null
R5266:Wdr41 UTSW 13 95,131,759 (GRCm39) missense probably damaging 1.00
R5276:Wdr41 UTSW 13 95,153,958 (GRCm39) critical splice donor site probably null
R5738:Wdr41 UTSW 13 95,114,996 (GRCm39) missense possibly damaging 0.55
R5957:Wdr41 UTSW 13 95,133,695 (GRCm39) critical splice donor site probably null
R6682:Wdr41 UTSW 13 95,149,639 (GRCm39) missense probably damaging 1.00
R6817:Wdr41 UTSW 13 95,133,812 (GRCm39) splice site probably null
R7582:Wdr41 UTSW 13 95,142,275 (GRCm39) missense probably damaging 0.97
R7832:Wdr41 UTSW 13 95,151,701 (GRCm39) missense probably benign 0.06
R8003:Wdr41 UTSW 13 95,149,654 (GRCm39) missense possibly damaging 0.93
R8076:Wdr41 UTSW 13 95,153,838 (GRCm39) missense probably benign
R8796:Wdr41 UTSW 13 95,151,575 (GRCm39) missense possibly damaging 0.94
R8919:Wdr41 UTSW 13 95,151,620 (GRCm39) missense probably benign 0.00
R9715:Wdr41 UTSW 13 95,145,373 (GRCm39) missense probably damaging 1.00
R9723:Wdr41 UTSW 13 95,151,671 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTAACCTGTGACGGTCGG -3'
(R):5'- TGTCTGATTCCTACGCAGAGC -3'

Sequencing Primer
(F):5'- CTGTGACGGTCGGCCTTG -3'
(R):5'- CCTACGCAGAGCATATTCTATATGG -3'
Posted On 2018-10-18