Incidental Mutation 'IGL02394:Wdr5b'
ID 293925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdr5b
Ensembl Gene ENSMUSG00000034379
Gene Name WD repeat domain 5B
Synonyms 2310009C03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL02394
Quality Score
Status
Chromosome 16
Chromosomal Location 35861560-35863344 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35862633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 251 (N251D)
Ref Sequence ENSEMBL: ENSMUSP00000040852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004057] [ENSMUST00000042203] [ENSMUST00000231351]
AlphaFold Q9D7H2
Predicted Effect probably benign
Transcript: ENSMUST00000004057
SMART Domains Protein: ENSMUSP00000004057
Gene: ENSMUSG00000003955

DomainStartEndE-ValueType
Pfam:DUF1075 10 155 1.8e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000042203
AA Change: N251D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040852
Gene: ENSMUSG00000034379
AA Change: N251D

DomainStartEndE-ValueType
WD40 28 67 5.95e-7 SMART
WD40 70 109 1.28e-11 SMART
WD40 112 151 4.87e-12 SMART
WD40 154 193 5.22e-12 SMART
WD40 196 236 1.21e-7 SMART
WD40 239 281 5.47e-6 SMART
WD40 284 325 1.01e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231379
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232390
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein containing several WD40 repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, including a trp-asp at the C-terminal end. The encoded protein may mediate protein-protein interactions. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 G A 1: 176,886,985 (GRCm39) T288M probably damaging Het
Baat A T 4: 49,489,812 (GRCm39) probably benign Het
Bclaf3 A G X: 158,338,485 (GRCm39) Y444C probably damaging Het
Bcs1l A G 1: 74,629,459 (GRCm39) T166A probably damaging Het
Cep135 C T 5: 76,779,318 (GRCm39) T776I probably benign Het
Clasrp A G 7: 19,337,179 (GRCm39) L12P probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp4f15 A G 17: 32,911,609 (GRCm39) I164V possibly damaging Het
Eps15 T A 4: 109,170,162 (GRCm39) L155M probably damaging Het
Fbxl20 G A 11: 98,004,082 (GRCm39) R69W probably damaging Het
Galnt9 A G 5: 110,763,365 (GRCm39) M457V probably damaging Het
Gemin2 T A 12: 59,060,842 (GRCm39) probably null Het
Gm20521 T A 14: 55,135,499 (GRCm39) Y175N probably damaging Het
Gm3298 T A 14: 5,018,778 (GRCm38) C178S probably benign Het
Gpr37l1 T C 1: 135,094,746 (GRCm39) N166S probably damaging Het
Gpr45 A G 1: 43,069,272 (GRCm39) probably benign Het
Gpr75 T C 11: 30,842,190 (GRCm39) I365T possibly damaging Het
Gsdmc2 T C 15: 63,707,729 (GRCm39) R22G probably damaging Het
Il23r T C 6: 67,443,256 (GRCm39) probably benign Het
Itgam A T 7: 127,684,114 (GRCm39) T340S probably benign Het
Klk1b24 A G 7: 43,841,294 (GRCm39) D209G possibly damaging Het
Med13l A C 5: 118,886,898 (GRCm39) T1600P probably benign Het
Muc16 G T 9: 18,409,996 (GRCm39) H137Q probably damaging Het
Nin T C 12: 70,090,805 (GRCm39) E870G probably damaging Het
Or12k7 A G 2: 36,958,497 (GRCm39) Y60C probably damaging Het
Or5b120 A G 19: 13,480,228 (GRCm39) N174D probably damaging Het
Or6c215 A T 10: 129,638,182 (GRCm39) F71I possibly damaging Het
Pkhd1 T C 1: 20,269,710 (GRCm39) K3278R possibly damaging Het
Prlr A G 15: 10,328,664 (GRCm39) N380D probably benign Het
Rpgr A C X: 10,032,456 (GRCm39) S582R probably benign Het
Rph3a T C 5: 121,084,411 (GRCm39) probably null Het
Setd5 A G 6: 113,087,859 (GRCm39) H140R probably benign Het
Stoml3 C A 3: 53,405,540 (GRCm39) probably benign Het
Teddm1a A C 1: 153,767,545 (GRCm39) D3A probably benign Het
Tmem207 A G 16: 26,335,586 (GRCm39) probably benign Het
Triml1 T A 8: 43,591,629 (GRCm39) Q243L possibly damaging Het
Usp5 G A 6: 124,799,672 (GRCm39) T274M probably damaging Het
Vav2 A G 2: 27,187,671 (GRCm39) probably benign Het
Wnk2 C A 13: 49,235,375 (GRCm39) probably null Het
Other mutations in Wdr5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0605:Wdr5b UTSW 16 35,862,366 (GRCm39) missense probably benign 0.00
R0627:Wdr5b UTSW 16 35,862,840 (GRCm39) missense probably benign 0.07
R5280:Wdr5b UTSW 16 35,862,202 (GRCm39) missense probably benign 0.16
R5977:Wdr5b UTSW 16 35,862,374 (GRCm39) missense probably damaging 1.00
R6899:Wdr5b UTSW 16 35,862,150 (GRCm39) missense probably damaging 1.00
R7236:Wdr5b UTSW 16 35,862,208 (GRCm39) missense possibly damaging 0.88
R7246:Wdr5b UTSW 16 35,862,306 (GRCm39) missense probably damaging 1.00
R7641:Wdr5b UTSW 16 35,862,712 (GRCm39) missense probably damaging 1.00
R7918:Wdr5b UTSW 16 35,862,192 (GRCm39) missense probably damaging 0.99
R8063:Wdr5b UTSW 16 35,862,158 (GRCm39) missense possibly damaging 0.78
R8971:Wdr5b UTSW 16 35,861,926 (GRCm39) missense probably benign
Z1088:Wdr5b UTSW 16 35,862,813 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16