Incidental Mutation 'R8003:Wnt8b'
ID 616485
Institutional Source Beutler Lab
Gene Symbol Wnt8b
Ensembl Gene ENSMUSG00000036961
Gene Name wingless-type MMTV integration site family, member 8B
Synonyms
MMRRC Submission 046043-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8003 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44481912-44502712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44500396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 328 (C328S)
Ref Sequence ENSEMBL: ENSMUSP00000042867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041163] [ENSMUST00000063632]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041163
AA Change: C328S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042867
Gene: ENSMUSG00000036961
AA Change: C328S

DomainStartEndE-ValueType
WNT1 38 351 1.02e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063632
SMART Domains Protein: ENSMUSP00000064900
Gene: ENSMUSG00000051984

DomainStartEndE-ValueType
Blast:WD40 56 101 5e-18 BLAST
WD40 110 150 4.76e-6 SMART
WD40 159 197 1.53e1 SMART
WD40 200 245 1.85e0 SMART
WD40 249 289 2.15e-4 SMART
WD40 292 332 6.19e-1 SMART
low complexity region 551 561 N/A INTRINSIC
low complexity region 822 841 N/A INTRINSIC
low complexity region 909 929 N/A INTRINSIC
low complexity region 1009 1018 N/A INTRINSIC
Meta Mutation Damage Score 0.8434 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele are viable and healthy with no evidence of hippocampal or hypothalamic defects and normal cell proliferation in the neurogenic region of the adult dentate gyrus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A G 14: 56,019,092 (GRCm39) V155A probably benign Het
Arfgef2 A G 2: 166,695,208 (GRCm39) Y527C probably damaging Het
Brca1 C T 11: 101,415,303 (GRCm39) G944R probably benign Het
C2cd2 A G 16: 97,687,286 (GRCm39) probably null Het
Cass4 T C 2: 172,269,879 (GRCm39) F654L unknown Het
Ccdc178 A T 18: 21,977,944 (GRCm39) probably null Het
Cct4 T C 11: 22,946,040 (GRCm39) probably null Het
Cish T C 9: 107,174,227 (GRCm39) V5A possibly damaging Het
Col5a1 G A 2: 27,848,340 (GRCm39) probably benign Het
Col6a3 G T 1: 90,703,455 (GRCm39) N3037K unknown Het
Csmd2 T A 4: 128,432,980 (GRCm39) C3012* probably null Het
Dclk2 T C 3: 86,700,608 (GRCm39) probably null Het
Dhx38 A T 8: 110,282,772 (GRCm39) D631E probably damaging Het
Eif2ak2 C A 17: 79,183,652 (GRCm39) A66S probably damaging Het
Ephx2 A G 14: 66,361,782 (GRCm39) probably null Het
Fbxw10 T G 11: 62,748,587 (GRCm39) C405G possibly damaging Het
Galnt13 G T 2: 54,950,497 (GRCm39) G393* probably null Het
Gm5591 G T 7: 38,219,183 (GRCm39) H563Q probably damaging Het
Gtf3c5 A G 2: 28,459,373 (GRCm39) I394T probably benign Het
Hectd4 G A 5: 121,477,581 (GRCm39) A2835T possibly damaging Het
Herc2 A G 7: 55,818,652 (GRCm39) D2781G possibly damaging Het
Kmt2b G T 7: 30,268,802 (GRCm39) H2642Q probably damaging Het
Lars1 A T 18: 42,354,684 (GRCm39) D754E probably damaging Het
Lrpprc A C 17: 85,059,745 (GRCm39) S690A probably benign Het
Map3k6 A G 4: 132,976,193 (GRCm39) T805A probably benign Het
Mthfd1l T G 10: 3,934,147 (GRCm39) S160A probably benign Het
Mtmr6 G A 14: 60,519,544 (GRCm39) probably null Het
Mybpc2 A T 7: 44,158,488 (GRCm39) M698K probably damaging Het
Myh8 T A 11: 67,190,586 (GRCm39) L1304M probably damaging Het
Mylip T A 13: 45,557,947 (GRCm39) V117E probably benign Het
Npc1l1 T C 11: 6,165,129 (GRCm39) Q1061R probably benign Het
Or12e13 A G 2: 87,664,081 (GRCm39) R233G probably benign Het
Or5d37 A T 2: 87,923,589 (GRCm39) Y230* probably null Het
Pkd2l2 G A 18: 34,561,232 (GRCm39) M413I probably damaging Het
Plch2 C T 4: 155,138,980 (GRCm39) G19D unknown Het
Pramel17 T C 4: 101,693,130 (GRCm39) K290R probably benign Het
Psg22 A C 7: 18,458,350 (GRCm39) Y347S probably damaging Het
Ptpre C A 7: 135,270,765 (GRCm39) Q314K probably damaging Het
Rgs6 T C 12: 83,032,144 (GRCm39) S54P probably damaging Het
Sbds C A 5: 130,279,726 (GRCm39) V130F possibly damaging Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Slc24a2 A T 4: 87,094,552 (GRCm39) D322E probably benign Het
Slc45a4 G T 15: 73,457,162 (GRCm39) Y585* probably null Het
Slc7a4 A C 16: 17,392,315 (GRCm39) V373G possibly damaging Het
Sulf1 G A 1: 12,908,825 (GRCm39) V613M probably damaging Het
Syt1 T C 10: 108,472,434 (GRCm39) D150G probably damaging Het
Tnpo3 C A 6: 29,551,900 (GRCm39) V888F probably benign Het
Trim9 T C 12: 70,393,608 (GRCm39) H112R probably benign Het
Vmn2r80 T C 10: 78,984,711 (GRCm39) I21T probably benign Het
Wdr41 C A 13: 95,149,654 (GRCm39) A286E possibly damaging Het
Ybx3 A T 6: 131,345,400 (GRCm39) Y324* probably null Het
Zmynd15 T A 11: 70,351,767 (GRCm39) H124Q probably benign Het
Other mutations in Wnt8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Wnt8b APN 19 44,499,704 (GRCm39) missense probably damaging 1.00
Manorborne UTSW 19 44,500,396 (GRCm39) missense probably damaging 1.00
Prospero UTSW 19 44,500,280 (GRCm39) missense probably damaging 1.00
R0601:Wnt8b UTSW 19 44,482,106 (GRCm39) missense probably benign 0.01
R0948:Wnt8b UTSW 19 44,498,968 (GRCm39) missense possibly damaging 0.69
R1315:Wnt8b UTSW 19 44,500,462 (GRCm39) missense probably damaging 1.00
R1672:Wnt8b UTSW 19 44,499,715 (GRCm39) missense probably damaging 1.00
R1864:Wnt8b UTSW 19 44,482,029 (GRCm39) missense probably benign 0.08
R5728:Wnt8b UTSW 19 44,499,757 (GRCm39) missense possibly damaging 0.69
R6180:Wnt8b UTSW 19 44,500,082 (GRCm39) missense probably benign 0.01
R6997:Wnt8b UTSW 19 44,500,280 (GRCm39) missense probably damaging 1.00
R7187:Wnt8b UTSW 19 44,500,121 (GRCm39) missense probably benign 0.04
R7216:Wnt8b UTSW 19 44,500,511 (GRCm39) missense probably benign
R7469:Wnt8b UTSW 19 44,500,001 (GRCm39) missense possibly damaging 0.83
R7673:Wnt8b UTSW 19 44,500,127 (GRCm39) missense possibly damaging 0.73
R8055:Wnt8b UTSW 19 44,481,952 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GACTACTGCCTGGAGAACAAG -3'
(R):5'- AGAATCTCTGGGCTAGGGAGTG -3'

Sequencing Primer
(F):5'- TGCCTGGAGAACAAGACCCTG -3'
(R):5'- CTCTATTTCCGGGGGTCTCTAAAG -3'
Posted On 2020-01-23