Incidental Mutation 'IGL02117:Wnt5a'
ID280450
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt5a
Ensembl Gene ENSMUSG00000021994
Gene Namewingless-type MMTV integration site family, member 5A
Synonyms8030457G12Rik, Wnt-5a
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02117
Quality Score
Status
Chromosome14
Chromosomal Location28504750-28527448 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 28506120 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000064878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063465]
Predicted Effect probably benign
Transcript: ENSMUST00000063465
SMART Domains Protein: ENSMUSP00000064878
Gene: ENSMUSG00000021994

DomainStartEndE-ValueType
Blast:WNT1 1 46 7e-6 BLAST
WNT1 71 380 6.71e-222 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151929
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180668
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 encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous mutants exhibit caudal truncation with shortened anterior-posterior axis, truncation of the snout, tongue and mandible, short fore- and hindlimbs, which lack digits, absent genital tubercle and lung abnormalities. Mutants die perinatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,473,546 M71L probably benign Het
Abcb11 A G 2: 69,323,825 probably benign Het
Ago4 T C 4: 126,516,852 T249A probably benign Het
Ahr A T 12: 35,512,923 C92* probably null Het
Arhgap17 G A 7: 123,286,773 probably benign Het
Arid1a G T 4: 133,692,815 T992K unknown Het
Camk2a A G 18: 60,977,989 I83M probably damaging Het
Ccdc154 T C 17: 25,167,818 probably null Het
Chtf18 T C 17: 25,722,203 H607R possibly damaging Het
Col25a1 T C 3: 130,519,773 probably benign Het
Col9a1 C T 1: 24,237,493 Q530* probably null Het
Cryl1 G T 14: 57,286,447 D219E probably damaging Het
Cul3 A T 1: 80,323,064 probably benign Het
Cul9 C A 17: 46,540,375 R373L probably benign Het
Exo1 A G 1: 175,893,743 Y316C possibly damaging Het
Fam114a1 G A 5: 65,030,122 V408M probably benign Het
Hmcn2 A T 2: 31,457,173 S4792C possibly damaging Het
Hps5 A G 7: 46,783,516 F260S probably damaging Het
Hrh4 T C 18: 13,022,420 S339P probably benign Het
Ist1 A T 8: 109,678,952 L152Q probably damaging Het
Marco A G 1: 120,490,954 V190A probably benign Het
Mdn1 T C 4: 32,709,364 V1711A probably benign Het
Mmp9 A G 2: 164,949,724 Y179C probably damaging Het
Mrgprb5 A G 7: 48,168,994 probably benign Het
Mrgprx1 G T 7: 48,021,623 C125* probably null Het
Msh6 A G 17: 87,990,806 probably benign Het
Myot C A 18: 44,355,110 R441S probably benign Het
Olfr740 A G 14: 50,453,942 R297G possibly damaging Het
Paf1 A G 7: 28,398,690 probably benign Het
Pde11a A G 2: 75,991,262 L891P probably damaging Het
Prkar2a T A 9: 108,719,261 I135N probably damaging Het
Rap1gap C T 4: 137,727,044 T646M probably damaging Het
Rgs7bp T C 13: 104,951,579 D229G possibly damaging Het
Rhobtb3 C T 13: 75,877,428 S523N probably damaging Het
Setd7 A T 3: 51,521,405 Y335N probably damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Socs4 T C 14: 47,290,807 Y400H probably damaging Het
Spag16 A T 1: 69,870,320 H192L probably damaging Het
Ssh1 A T 5: 113,946,480 C566* probably null Het
Stap1 T G 5: 86,086,693 I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 H238Y probably damaging Het
Tifab T C 13: 56,176,462 Y56C probably benign Het
Tssk2 A G 16: 17,899,789 E352G probably benign Het
Vmn2r57 A T 7: 41,400,450 V625D probably benign Het
Wbp1l T C 19: 46,644,437 Y75H probably benign Het
Other mutations in Wnt5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Wnt5a APN 14 28522909 missense probably damaging 1.00
IGL01945:Wnt5a APN 14 28518562 missense probably damaging 1.00
IGL02995:Wnt5a APN 14 28522914 missense probably benign 0.02
IGL03123:Wnt5a APN 14 28522925 missense probably damaging 1.00
Thrush UTSW 14 28518463 missense possibly damaging 0.78
R0254:Wnt5a UTSW 14 28522854 missense probably damaging 1.00
R0277:Wnt5a UTSW 14 28513268 missense possibly damaging 0.74
R0365:Wnt5a UTSW 14 28518504 nonsense probably null
R1472:Wnt5a UTSW 14 28518504 nonsense probably null
R1661:Wnt5a UTSW 14 28518343 missense probably benign 0.02
R1662:Wnt5a UTSW 14 28518343 missense probably benign 0.02
R1762:Wnt5a UTSW 14 28522891 missense probably damaging 1.00
R1791:Wnt5a UTSW 14 28511878 start codon destroyed probably null 0.00
R1933:Wnt5a UTSW 14 28511845 missense probably benign 0.00
R2147:Wnt5a UTSW 14 28513317 missense probably damaging 1.00
R2149:Wnt5a UTSW 14 28513317 missense probably damaging 1.00
R3078:Wnt5a UTSW 14 28513183 nonsense probably null
R3162:Wnt5a UTSW 14 28522488 missense probably benign 0.00
R3162:Wnt5a UTSW 14 28522488 missense probably benign 0.00
R4237:Wnt5a UTSW 14 28522866 missense probably damaging 1.00
R5396:Wnt5a UTSW 14 28522770 missense probably damaging 1.00
R6329:Wnt5a UTSW 14 28518492 nonsense probably null
R6698:Wnt5a UTSW 14 28518463 missense possibly damaging 0.78
R6974:Wnt5a UTSW 14 28522570 missense possibly damaging 0.89
R7114:Wnt5a UTSW 14 28522756 missense probably damaging 1.00
R7232:Wnt5a UTSW 14 28518372 missense probably benign 0.03
R7457:Wnt5a UTSW 14 28518279 splice site probably null
R7666:Wnt5a UTSW 14 28518372 missense possibly damaging 0.88
R8273:Wnt5a UTSW 14 28522605 missense probably damaging 1.00
T0722:Wnt5a UTSW 14 28511925 missense probably benign 0.01
Z1088:Wnt5a UTSW 14 28522728 missense probably damaging 0.99
Z1176:Wnt5a UTSW 14 28511907 missense probably benign
Posted On2015-04-16