Incidental Mutation 'R1600:Wdr45b'
ID 176102
Institutional Source Beutler Lab
Gene Symbol Wdr45b
Ensembl Gene ENSMUSG00000025173
Gene Name WD repeat domain 45B
Synonyms Wdr45l, D16Bwg0193e, 0610008N23Rik
MMRRC Submission 039637-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R1600 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 121218050-121245271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121221015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 221 (I221N)
Ref Sequence ENSEMBL: ENSMUSP00000026173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026173] [ENSMUST00000106110]
AlphaFold Q9CR39
Predicted Effect probably damaging
Transcript: ENSMUST00000026173
AA Change: I221N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026173
Gene: ENSMUSG00000025173
AA Change: I221N

DomainStartEndE-ValueType
Blast:WD40 11 37 2e-9 BLAST
low complexity region 70 79 N/A INTRINSIC
Blast:WD40 89 124 6e-11 BLAST
Blast:WD40 128 170 1e-5 BLAST
WD40 174 214 1.38e-2 SMART
WD40 217 258 3.71e-1 SMART
low complexity region 278 289 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106110
SMART Domains Protein: ENSMUSP00000101716
Gene: ENSMUSG00000025173

DomainStartEndE-ValueType
PDB:4EXV|A 3 205 9e-16 PDB
Blast:WD40 9 37 7e-11 BLAST
SCOP:d1tbga_ 9 205 6e-10 SMART
Blast:WD40 89 124 2e-11 BLAST
Blast:WD40 128 170 2e-6 BLAST
Blast:WD40 174 210 2e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137230
Meta Mutation Damage Score 0.7403 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 85% (41/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 T C 14: 54,881,174 (GRCm39) probably benign Het
Acot3 C T 12: 84,105,484 (GRCm39) A317V probably benign Het
Ahrr T C 13: 74,362,497 (GRCm39) D334G probably benign Het
Alpk2 C T 18: 65,511,108 (GRCm39) V30M probably damaging Het
Arhgef25 G T 10: 127,021,158 (GRCm39) H281N probably damaging Het
B3gntl1 A G 11: 121,521,662 (GRCm39) M175T probably damaging Het
Brca2 T A 5: 150,484,295 (GRCm39) probably benign Het
Ccnj A T 19: 40,833,101 (GRCm39) probably benign Het
Cebpzos A G 17: 79,225,817 (GRCm39) K11E probably damaging Het
Col6a6 A G 9: 105,655,274 (GRCm39) S816P probably damaging Het
Cul4a A G 8: 13,173,954 (GRCm39) R64G probably damaging Het
Cul7 C A 17: 46,962,748 (GRCm39) C126* probably null Het
Ercc2 T C 7: 19,119,866 (GRCm39) Y176H probably benign Het
Frem2 T G 3: 53,455,144 (GRCm39) D2144A probably damaging Het
Gabrg3 A T 7: 56,384,822 (GRCm39) Y246* probably null Het
Gpatch2l T C 12: 86,303,708 (GRCm39) probably null Het
Grk1 A G 8: 13,455,406 (GRCm39) T97A probably benign Het
Hmcn2 A G 2: 31,320,799 (GRCm39) E4004G probably damaging Het
Kcnu1 A T 8: 26,339,821 (GRCm39) R46S probably damaging Het
Lrrfip1 T C 1: 91,042,389 (GRCm39) S265P probably damaging Het
Lyve1 A G 7: 110,452,902 (GRCm39) probably null Het
Mme A G 3: 63,272,479 (GRCm39) Y659C probably damaging Het
Mrs2 G T 13: 25,179,393 (GRCm39) N299K possibly damaging Het
Mtnr1b T C 9: 15,774,615 (GRCm39) Y148C probably damaging Het
Myo5b T A 18: 74,846,611 (GRCm39) probably benign Het
Neb A G 2: 52,161,616 (GRCm39) Y2059H probably damaging Het
Nkain3 T C 4: 20,469,528 (GRCm39) probably benign Het
Peg10 A T 6: 4,757,080 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,537 (GRCm39) E160G possibly damaging Het
Rufy2 A G 10: 62,842,450 (GRCm39) T458A probably benign Het
Sec14l1 G A 11: 117,041,430 (GRCm39) V448I probably benign Het
Tbx19 C T 1: 164,970,136 (GRCm39) G251D possibly damaging Het
Tcstv7b T C 13: 120,702,369 (GRCm39) V55A probably benign Het
Trappc9 G A 15: 72,808,958 (GRCm39) Q711* probably null Het
Trpm3 A G 19: 22,116,519 (GRCm39) R13G probably benign Het
Usp33 G T 3: 152,085,247 (GRCm39) A628S probably damaging Het
Vps13a T C 19: 16,643,636 (GRCm39) N2080S probably benign Het
Zfp119a A T 17: 56,175,355 (GRCm39) W47R possibly damaging Het
Zswim9 A G 7: 13,003,497 (GRCm39) C118R probably damaging Het
Other mutations in Wdr45b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02532:Wdr45b APN 11 121,219,639 (GRCm39) missense probably benign 0.00
R0930:Wdr45b UTSW 11 121,221,040 (GRCm39) missense probably damaging 1.00
R1354:Wdr45b UTSW 11 121,226,256 (GRCm39) missense probably damaging 0.98
R4969:Wdr45b UTSW 11 121,219,650 (GRCm39) nonsense probably null
R5133:Wdr45b UTSW 11 121,219,621 (GRCm39) missense probably benign 0.06
R5850:Wdr45b UTSW 11 121,221,923 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ACATCCATGCTGCAACAGGAAAGG -3'
(R):5'- TGCTGTACCTGAGGTAGCAGACAAG -3'

Sequencing Primer
(F):5'- AGAGCCCACGGTGTTCC -3'
(R):5'- GGGGCCAGTGGGTTATAATATAAAT -3'
Posted On 2014-04-24