Incidental Mutation 'IGL01108:Wnt3a'
ID 52308
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01108
Quality Score
Status
Chromosome 11
Chromosomal Location 59138859-59181578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59147135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 184 (N184D)
Ref Sequence ENSEMBL: ENSMUSP00000010044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010044]
AlphaFold P27467
Predicted Effect probably benign
Transcript: ENSMUST00000010044
AA Change: N184D

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000010044
Gene: ENSMUSG00000009900
AA Change: N184D

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
WNT1 44 352 9.57e-218 SMART
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah2 A G 19: 31,986,081 (GRCm39) probably benign Het
Baz1a A G 12: 54,963,516 (GRCm39) I856T probably benign Het
Cblb T A 16: 51,867,814 (GRCm39) probably null Het
Cpq A G 15: 33,497,433 (GRCm39) Q391R probably benign Het
Dnah9 T A 11: 65,740,806 (GRCm39) T4127S possibly damaging Het
Dync2h1 A G 9: 7,176,771 (GRCm39) S63P possibly damaging Het
Ercc3 T C 18: 32,397,638 (GRCm39) V623A probably damaging Het
Fbxw9 A G 8: 85,792,606 (GRCm39) probably benign Het
Gorasp2 T A 2: 70,508,922 (GRCm39) S133R probably damaging Het
Gtf2h1 G A 7: 46,461,922 (GRCm39) A307T probably damaging Het
Hk1 T C 10: 62,132,487 (GRCm39) K186R probably benign Het
Itga11 A G 9: 62,664,903 (GRCm39) E596G probably benign Het
Kcnj13 T C 1: 87,314,659 (GRCm39) I188V probably benign Het
Klhl18 A T 9: 110,257,754 (GRCm39) M492K probably damaging Het
Mctp2 T C 7: 71,835,563 (GRCm39) T545A probably damaging Het
Mgrn1 G T 16: 4,734,019 (GRCm39) probably null Het
Mideas T C 12: 84,220,465 (GRCm39) E163G probably damaging Het
Olfm4 T C 14: 80,259,339 (GRCm39) V529A probably benign Het
Or13f5 C T 4: 52,825,727 (GRCm39) T110I probably damaging Het
Parp4 T G 14: 56,844,897 (GRCm39) I596S probably benign Het
Plppr3 T A 10: 79,703,355 (GRCm39) D43V probably damaging Het
Prss51 A T 14: 64,333,433 (GRCm39) K14I probably damaging Het
Prss58 A G 6: 40,874,278 (GRCm39) C133R probably damaging Het
Recql5 A T 11: 115,788,007 (GRCm39) N437K probably benign Het
Samd10 A G 2: 181,239,007 (GRCm39) Y135H probably damaging Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Serpina7 C T X: 137,983,886 (GRCm39) V58I probably benign Het
Slf1 A T 13: 77,273,594 (GRCm39) probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Urb1 C T 16: 90,589,702 (GRCm39) A360T probably damaging Het
Ush2a G T 1: 188,595,022 (GRCm39) R3818L probably benign Het
Vmn2r57 C T 7: 41,077,008 (GRCm39) R386K probably benign Het
Xpc G A 6: 91,469,987 (GRCm39) R746W probably damaging Het
Other mutations in Wnt3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8552:Wnt3a UTSW 11 59,166,043 (GRCm39) missense probably damaging 0.96
Posted On 2013-06-21