Incidental Mutation 'R8552:Wnt3a'
ID 659920
Institutional Source Beutler Lab
Gene Symbol Wnt3a
Ensembl Gene ENSMUSG00000009900
Gene Name wingless-type MMTV integration site family, member 3A
Synonyms Wnt-3a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8552 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 59138859-59181578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59166043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 79 (H79L)
Ref Sequence ENSEMBL: ENSMUSP00000010044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010044]
AlphaFold P27467
Predicted Effect probably damaging
Transcript: ENSMUST00000010044
AA Change: H79L

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000010044
Gene: ENSMUSG00000009900
AA Change: H79L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
WNT1 44 352 9.57e-218 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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 96% amino acid identity to mouse Wnt3A protein, and 84% to human WNT3 protein, another WNT gene product. This gene is clustered with WNT14 gene, another family member, in chromosome 1q42 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die at embryonic day 10.5-12.5 with failed development of caudal somites, notochord and structures rostral to hindlimbs. Homozygotes for a hypomorphic allele have vertebral defects and a short tail due to loss of caudal vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg2 A G 6: 58,646,210 (GRCm39) H242R possibly damaging Het
Adam1b G T 5: 121,639,504 (GRCm39) R514S probably benign Het
Adprs A G 4: 126,210,368 (GRCm39) *371Q probably null Het
Arid4a T C 12: 71,106,849 (GRCm39) L307P probably benign Het
Armc12 C T 17: 28,757,675 (GRCm39) A269V probably benign Het
Asb1 T A 1: 91,480,078 (GRCm39) V259E probably damaging Het
Atm T C 9: 53,435,797 (GRCm39) Y171C probably damaging Het
Atp8a2 A T 14: 60,011,431 (GRCm39) F959L probably benign Het
B4galt3 G T 1: 171,101,917 (GRCm39) E34D possibly damaging Het
Cacna1i A G 15: 80,204,598 (GRCm39) N90S possibly damaging Het
Cdc42ep2 T A 19: 5,968,060 (GRCm39) *215L probably null Het
Cep162 C T 9: 87,126,361 (GRCm39) E184K probably benign Het
Cnga3 C T 1: 37,284,060 (GRCm39) P121L probably benign Het
Cpt1b G A 15: 89,306,524 (GRCm39) R285C probably damaging Het
Defb18 T C 1: 18,306,791 (GRCm39) Y55C probably damaging Het
Depdc1b C T 13: 108,493,959 (GRCm39) P116S probably damaging Het
Dhx16 C T 17: 36,192,183 (GRCm39) A74V possibly damaging Het
Dnajc21 A T 15: 10,464,005 (GRCm39) Y53* probably null Het
Dse T C 10: 34,028,316 (GRCm39) R925G possibly damaging Het
Dsp C T 13: 38,369,117 (GRCm39) L738F probably damaging Het
Erv3 T C 2: 131,698,261 (GRCm39) K33E possibly damaging Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gdf9 T C 11: 53,324,378 (GRCm39) L49S possibly damaging Het
Gigyf1 G T 5: 137,521,401 (GRCm39) probably benign Het
Gm4792 T A 10: 94,131,061 (GRCm39) I83L unknown Het
Ighv9-3 A G 12: 114,104,349 (GRCm39) L105P probably damaging Het
Krtap5-1 C A 7: 141,850,160 (GRCm39) W189L probably null Het
Krtap5-3 T A 7: 141,756,089 (GRCm39) probably benign Het
Lrp1b T A 2: 41,298,993 (GRCm39) E108D probably benign Het
Lrrc66 G A 5: 73,768,228 (GRCm39) P238S probably benign Het
Ms4a4c C T 19: 11,392,196 (GRCm39) Q6* probably null Het
Or5b97 A G 19: 12,879,096 (GRCm39) L16P probably damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pinx1 A G 14: 64,156,972 (GRCm39) R300G probably benign Het
Pkd1 T A 17: 24,810,443 (GRCm39) H92Q probably damaging Het
Rad54l2 T A 9: 106,570,777 (GRCm39) Q1181L possibly damaging Het
Rbl1 A T 2: 157,038,174 (GRCm39) V131E probably damaging Het
Rbp3 A G 14: 33,677,621 (GRCm39) E523G probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Slc22a20 C A 19: 6,035,698 (GRCm39) C130F probably damaging Het
Smcr8 T C 11: 60,670,979 (GRCm39) L709S probably damaging Het
Spef2 A G 15: 9,600,765 (GRCm39) probably benign Het
Teddm1b T A 1: 153,750,194 (GRCm39) M1K probably null Het
Tes A G 6: 17,097,327 (GRCm39) Y60C probably damaging Het
Tmem104 T C 11: 115,088,144 (GRCm39) L43P probably damaging Het
Tnfaip3 T C 10: 18,880,213 (GRCm39) E618G probably damaging Het
Tnfaip3 T C 10: 18,880,414 (GRCm39) D551G probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trim30b T A 7: 104,015,236 (GRCm39) T51S probably benign Het
Trmt44 G T 5: 35,722,744 (GRCm39) H441Q probably benign Het
Tshr C A 12: 91,504,059 (GRCm39) D332E probably benign Het
Usp10 C T 8: 120,683,367 (GRCm39) T746M possibly damaging Het
Vmn1r8 A T 6: 57,013,138 (GRCm39) D63V possibly damaging Het
Vps13a A C 19: 16,731,684 (GRCm39) L143V probably damaging Het
Zbtb7a C T 10: 80,980,141 (GRCm39) R112W probably damaging Het
Other mutations in Wnt3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Wnt3a APN 11 59,147,135 (GRCm39) missense probably benign 0.03
R0334:Wnt3a UTSW 11 59,147,144 (GRCm39) missense probably damaging 0.97
R3912:Wnt3a UTSW 11 59,140,828 (GRCm39) missense possibly damaging 0.91
R4041:Wnt3a UTSW 11 59,140,470 (GRCm39) missense probably damaging 1.00
R4980:Wnt3a UTSW 11 59,140,626 (GRCm39) missense probably damaging 1.00
R5413:Wnt3a UTSW 11 59,166,182 (GRCm39) missense probably benign 0.04
R5528:Wnt3a UTSW 11 59,166,106 (GRCm39) missense probably damaging 0.99
R5626:Wnt3a UTSW 11 59,181,409 (GRCm39) missense probably benign 0.17
R6355:Wnt3a UTSW 11 59,166,058 (GRCm39) missense probably damaging 1.00
R6700:Wnt3a UTSW 11 59,140,587 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCTCTTTGCCAGCAGCTAAC -3'
(R):5'- TTCTACCAGGTCCTTGGCTG -3'

Sequencing Primer
(F):5'- TTTCCAAACCAGCCCAGGGG -3'
(R):5'- TCCTTGGCTGTGGGACC -3'
Posted On 2021-01-18