Incidental Mutation 'R6997:Wnt8b'
ID 544317
Institutional Source Beutler Lab
Gene Symbol Wnt8b
Ensembl Gene ENSMUSG00000036961
Gene Name wingless-type MMTV integration site family, member 8B
Synonyms
MMRRC Submission 045103-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6997 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 44481912-44502712 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44500280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 289 (C289Y)
Ref Sequence ENSEMBL: ENSMUSP00000042867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041163]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000041163
AA Change: C289Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042867
Gene: ENSMUSG00000036961
AA Change: C289Y

DomainStartEndE-ValueType
WNT1 38 351 1.02e-185 SMART
Meta Mutation Damage Score 0.9588 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (58/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,171,539 (GRCm39) Y764C probably benign Het
Atxn1 C T 13: 45,721,095 (GRCm39) V267M probably benign Het
Cadps T A 14: 12,505,793 (GRCm38) H759L possibly damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,474 (GRCm39) L111P probably damaging Het
Ccl8 A T 11: 82,006,865 (GRCm39) D26V possibly damaging Het
Cdh19 T C 1: 110,882,596 (GRCm39) probably benign Het
Cnga3 C A 1: 37,283,965 (GRCm39) H89Q probably benign Het
Cnga4 A T 7: 105,056,190 (GRCm39) Q264L probably damaging Het
Coil A G 11: 88,872,673 (GRCm39) T345A probably benign Het
Cyp11b2 A G 15: 74,723,281 (GRCm39) L461P probably damaging Het
Dock2 T C 11: 34,414,922 (GRCm39) E151G probably damaging Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Dync2h1 A T 9: 7,168,743 (GRCm39) C357S probably null Het
Ebf3 A C 7: 136,826,994 (GRCm39) I306R probably damaging Het
Eprs1 A G 1: 185,128,360 (GRCm39) H580R possibly damaging Het
Ermap A T 4: 119,035,810 (GRCm39) F393I probably damaging Het
Flii T C 11: 60,613,151 (GRCm39) T217A probably benign Het
Fras1 C T 5: 96,762,732 (GRCm39) Q745* probably null Het
Gja8 A G 3: 96,826,657 (GRCm39) V335A probably benign Het
Gm21560 A T 14: 6,218,333 (GRCm38) N48K probably damaging Het
Gpr158 C T 2: 21,653,802 (GRCm39) T457I possibly damaging Het
Kcnv1 A T 15: 44,977,997 (GRCm39) S14T unknown Het
Lamb2 T C 9: 108,358,496 (GRCm39) Y178H probably damaging Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Map1b T C 13: 99,567,142 (GRCm39) T1860A unknown Het
Map2k7 T C 8: 4,294,035 (GRCm39) Y194H possibly damaging Het
Map4 T A 9: 109,881,982 (GRCm39) M282K probably benign Het
Mmp10 A G 9: 7,503,531 (GRCm39) I134V probably benign Het
Mrtfa G T 15: 80,902,649 (GRCm39) S220* probably null Het
Msh5 A T 17: 35,248,978 (GRCm39) L685Q probably damaging Het
Myh1 T A 11: 67,111,463 (GRCm39) I1634N possibly damaging Het
Myh13 C T 11: 67,217,980 (GRCm39) R18* probably null Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Ninl G T 2: 150,808,145 (GRCm39) H294Q probably benign Het
Or4a79 G A 2: 89,552,269 (GRCm39) A62V possibly damaging Het
Or51b17 A T 7: 103,542,238 (GRCm39) S235T probably benign Het
Or8b44 T C 9: 38,410,607 (GRCm39) I214T possibly damaging Het
Orm3 T A 4: 63,275,180 (GRCm39) L97Q probably damaging Het
Osbpl1a T C 18: 12,889,281 (GRCm39) N432S probably benign Het
Pikfyve T A 1: 65,285,822 (GRCm39) D1020E probably damaging Het
Pxk T A 14: 8,122,371 (GRCm38) D60E probably benign Het
Rack1 T A 11: 48,694,752 (GRCm39) V198E probably damaging Het
Ripk1 C T 13: 34,201,100 (GRCm39) A271V probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 G T 13: 11,669,266 (GRCm39) H3513N possibly damaging Het
Scn7a A T 2: 66,534,147 (GRCm39) D509E probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sfxn5 A G 6: 85,233,414 (GRCm39) V181A probably benign Het
Slc5a4b C T 10: 75,925,812 (GRCm39) A198T probably damaging Het
Sp2 C T 11: 96,848,552 (GRCm39) R357H possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tnfrsf11b G A 15: 54,115,770 (GRCm39) L276F probably damaging Het
Usp37 A G 1: 74,493,118 (GRCm39) V723A probably benign Het
Usp45 G T 4: 21,781,844 (GRCm39) R36I probably damaging Het
Vcan T C 13: 89,838,737 (GRCm39) D2269G probably damaging Het
Vmn2r18 T A 5: 151,485,338 (GRCm39) M719L possibly damaging Het
Vmn2r52 C T 7: 9,902,998 (GRCm39) G477R probably benign Het
Vmn2r60 C A 7: 41,791,716 (GRCm39) N546K probably benign Het
Zdbf2 T G 1: 63,329,925 (GRCm39) M10R probably benign Het
Zfp945 T A 17: 23,071,543 (GRCm39) K140* probably null 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
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
R8003:Wnt8b UTSW 19 44,500,396 (GRCm39) missense probably damaging 1.00
R8055:Wnt8b UTSW 19 44,481,952 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GTTGCAACTGCCAGAGTTCC -3'
(R):5'- TGCAGAAGTACTTGGTGACCC -3'

Sequencing Primer
(F):5'- AGAAGTATCATGCGGCGCTC -3'
(R):5'- TACTTGGTGACCCGCCGG -3'
Posted On 2019-05-13