Incidental Mutation 'R5850:Wdr45b'
ID 454635
Institutional Source Beutler Lab
Gene Symbol Wdr45b
Ensembl Gene ENSMUSG00000025173
Gene Name WD repeat domain 45B
Synonyms Wdr45l, D16Bwg0193e, 0610008N23Rik
MMRRC Submission 043226-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # R5850 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 121218050-121245271 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 121221923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026173] [ENSMUST00000106110] [ENSMUST00000136797]
AlphaFold Q9CR39
Predicted Effect probably benign
Transcript: ENSMUST00000026173
SMART Domains Protein: ENSMUSP00000026173
Gene: ENSMUSG00000025173

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 unknown
Transcript: ENSMUST00000106110
AA Change: V217A
SMART Domains Protein: ENSMUSP00000101716
Gene: ENSMUSG00000025173
AA Change: V217A

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 probably benign
Transcript: ENSMUST00000136797
SMART Domains Protein: ENSMUSP00000119591
Gene: ENSMUSG00000025173

DomainStartEndE-ValueType
PDB:4EXV|A 3 171 1e-9 PDB
Blast:WD40 9 37 2e-11 BLAST
SCOP:d1tbga_ 18 171 6e-8 SMART
Blast:WD40 55 90 6e-12 BLAST
Blast:WD40 94 136 1e-6 BLAST
Blast:WD40 140 172 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137230
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8b C A 11: 109,868,639 (GRCm39) G175V probably damaging Het
Abhd14a A C 9: 106,317,548 (GRCm39) L225R probably damaging Het
Apbb1 A G 7: 105,216,790 (GRCm39) S39P probably damaging Het
Apc T C 18: 34,451,116 (GRCm39) S2637P possibly damaging Het
Apold1 T C 6: 134,961,058 (GRCm39) F171L probably damaging Het
Ascc3 T C 10: 50,587,049 (GRCm39) M967T probably damaging Het
Atf7ip T C 6: 136,543,785 (GRCm39) probably null Het
Bcl2l15 T A 3: 103,743,432 (GRCm39) V111D possibly damaging Het
Bsn A T 9: 107,992,149 (GRCm39) M1201K probably damaging Het
Ccdc141 T A 2: 76,859,747 (GRCm39) N965Y probably damaging Het
Cnn3 T C 3: 121,245,577 (GRCm39) Y98H probably damaging Het
Cnot1 G A 8: 96,460,775 (GRCm39) R117* probably null Het
Dlgap1 G A 17: 71,094,087 (GRCm39) V803M probably damaging Het
Drd3 A C 16: 43,638,695 (GRCm39) M299L probably benign Het
Ergic2 C A 6: 148,084,605 (GRCm39) M34I possibly damaging Het
Ext2 A T 2: 93,644,004 (GRCm39) D92E possibly damaging Het
Fmnl1 A G 11: 103,086,111 (GRCm39) probably benign Het
Ganab C T 19: 8,889,071 (GRCm39) R591W probably damaging Het
Kdsr A T 1: 106,683,172 (GRCm39) probably null Het
Macf1 T C 4: 123,401,099 (GRCm39) E813G probably damaging Het
Nlrc5 A G 8: 95,247,675 (GRCm39) T1621A probably benign Het
Nmnat1 G A 4: 149,554,124 (GRCm39) Q139* probably null Het
Os9 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 10: 126,934,348 (GRCm39) probably benign Het
Oxa1l T G 14: 54,605,121 (GRCm39) V11G possibly damaging Het
Padi1 A G 4: 140,542,141 (GRCm39) Y594H probably benign Het
Polr1a T A 6: 71,903,667 (GRCm39) F327I probably benign Het
Prf1 G T 10: 61,135,972 (GRCm39) A83S probably benign Het
Ptgs2 A G 1: 149,981,127 (GRCm39) E470G probably benign Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc19a2 A G 1: 164,091,025 (GRCm39) I278V probably benign Het
Smco1 A T 16: 32,092,674 (GRCm39) N115I probably damaging Het
Smyd3 G A 1: 178,871,420 (GRCm39) L320F probably damaging Het
Svil T A 18: 5,098,900 (GRCm39) probably null Het
Syne2 A G 12: 76,144,749 (GRCm39) D1566G probably damaging Het
Tpm2 T C 4: 43,523,296 (GRCm39) D20G probably damaging Het
Ubap1l A G 9: 65,281,045 (GRCm39) Y241C probably damaging Het
Usp15 A G 10: 122,960,417 (GRCm39) probably null Het
Zc3h14 A G 12: 98,745,414 (GRCm39) I468V probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L 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
R1600:Wdr45b UTSW 11 121,221,015 (GRCm39) missense probably damaging 0.99
R4969:Wdr45b UTSW 11 121,219,650 (GRCm39) nonsense probably null
R5133:Wdr45b UTSW 11 121,219,621 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ATAAGCTCATCTCCAGCCCTG -3'
(R):5'- AGTAACTACAAGGGTGGTGTTG -3'

Sequencing Primer
(F):5'- TGCTCCTGGAGATGCAGCAG -3'
(R):5'- GAGCTCACTATATAAACTAGGCTGGC -3'
Posted On 2017-02-10