Incidental Mutation 'R5528:Wnt3a'
ID 433538
Institutional Source Beutler Lab
Gene Symbol Wnt3a
Ensembl Gene ENSMUSG00000009900
Gene Name wingless-type MMTV integration site family, member 3A
Synonyms Wnt-3a
MMRRC Submission 043086-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5528 (G1)
Quality Score 220
Status Not validated
Chromosome 11
Chromosomal Location 59138859-59181578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59166106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 58 (N58S)
Ref Sequence ENSEMBL: ENSMUSP00000010044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010044]
AlphaFold P27467
Predicted Effect probably damaging
Transcript: ENSMUST00000010044
AA Change: N58S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000010044
Gene: ENSMUSG00000009900
AA Change: N58S

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
WNT1 44 352 9.57e-218 SMART
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,772,260 (GRCm39) L483P probably benign Het
4930519G04Rik T G 5: 115,012,415 (GRCm39) probably null Het
Ablim2 C T 5: 36,013,510 (GRCm39) Q148* probably null Het
Ap3s2 A T 7: 79,530,234 (GRCm39) *194R probably null Het
Arpp21 C T 9: 111,978,421 (GRCm39) A235T probably benign Het
C9orf72 T C 4: 35,213,556 (GRCm39) D198G probably benign Het
Ccdc33 T C 9: 57,936,078 (GRCm39) D939G probably benign Het
Celsr2 A T 3: 108,320,610 (GRCm39) I734N probably damaging Het
Clcn1 C A 6: 42,277,275 (GRCm39) N455K probably benign Het
Cpne8 C T 15: 90,503,893 (GRCm39) V91I possibly damaging Het
Cstdc7 A G 18: 42,306,727 (GRCm39) probably null Het
Ddx1 A G 12: 13,279,295 (GRCm39) V448A probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eeig1 G A 2: 32,456,339 (GRCm39) A334T probably damaging Het
Eif2a G T 3: 58,455,933 (GRCm39) D311Y probably damaging Het
Eif2ak4 G A 2: 118,258,419 (GRCm39) E512K probably damaging Het
Esp15 A T 17: 39,955,640 (GRCm39) Y69F probably benign Het
Gucy1a1 A T 3: 82,016,380 (GRCm39) Y203N probably damaging Het
Hook3 T C 8: 26,562,321 (GRCm39) Q248R probably damaging Het
Ifit2 T A 19: 34,550,937 (GRCm39) V159E possibly damaging Het
Il17rd T C 14: 26,810,024 (GRCm39) V20A possibly damaging Het
Kcnq3 T A 15: 65,897,027 (GRCm39) D291V probably damaging Het
Klf11 A T 12: 24,704,929 (GRCm39) M111L probably benign Het
Lama5 T A 2: 179,836,356 (GRCm39) H1165L probably benign Het
Lmo7 A G 14: 102,139,522 (GRCm39) N702S probably damaging Het
Lta4h T C 10: 93,307,736 (GRCm39) V323A probably damaging Het
Mkrn3 T C 7: 62,068,735 (GRCm39) E352G possibly damaging Het
Ms4a19 T C 19: 11,118,999 (GRCm39) S37G possibly damaging Het
Mtf2 T A 5: 108,242,023 (GRCm39) L277Q probably damaging Het
Myo9b A G 8: 71,775,918 (GRCm39) N370D probably benign Het
Nlrp4e A C 7: 23,036,316 (GRCm39) K723T probably benign Het
Nsun3 A G 16: 62,555,689 (GRCm39) V279A possibly damaging Het
Pde6b A G 5: 108,571,424 (GRCm39) D459G probably benign Het
Phgdh T C 3: 98,235,655 (GRCm39) I121V probably benign Het
Pik3r5 T C 11: 68,386,803 (GRCm39) C811R probably damaging Het
Spaca6 A C 17: 18,051,344 (GRCm39) I27L probably benign Het
Trmt1l G A 1: 151,330,746 (GRCm39) V588I probably benign Het
Tshr A G 12: 91,503,967 (GRCm39) N302D probably damaging Het
Vmn2r23 A G 6: 123,689,961 (GRCm39) D279G probably damaging Het
Zkscan8 A G 13: 21,704,895 (GRCm39) V276A 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
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
R8552:Wnt3a UTSW 11 59,166,043 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TTGGAAGGCCTTATGATGTCC -3'
(R):5'- CAGCCATCAACATGCTGTCTC -3'

Sequencing Primer
(F):5'- GGAAGGCCTTATGATGTCCATATAG -3'
(R):5'- ATCAACATGCTGTCTCTAGGTG -3'
Posted On 2016-10-06