Incidental Mutation 'IGL02653:Wnt1'
ID302226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt1
Ensembl Gene ENSMUSG00000022997
Gene Namewingless-type MMTV integration site family, member 1
SynonymsWnt-1, Int-1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.700) question?
Stock #IGL02653
Quality Score
Status
Chromosome15
Chromosomal Location98789857-98793837 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 98792455 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 222 (G222R)
Ref Sequence ENSEMBL: ENSMUSP00000023734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023734]
Predicted Effect probably damaging
Transcript: ENSMUST00000023734
AA Change: G222R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023734
Gene: ENSMUSG00000022997
AA Change: G222R

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
WNT1 60 370 3.09e-212 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 is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However, further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: In mild form, homozygotes have ataxia and hypertonia, with malformation of anterior cerebellum, deep midline fissure, and impaired fertility. In the severe form, there is virtually no midbrain and cerebellum and mutants die within hours of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,115,767 probably benign Het
Alox5 T A 6: 116,415,477 H361L probably benign Het
Arid2 A G 15: 96,287,702 N3S probably damaging Het
Atp1a4 T A 1: 172,251,406 I182F possibly damaging Het
Ctnna2 A T 6: 76,980,777 D496E probably benign Het
Cyp3a25 G T 5: 146,003,110 S29Y possibly damaging Het
Dglucy G A 12: 100,871,431 G611D probably benign Het
Efcab5 T C 11: 77,132,022 K622E probably damaging Het
Esyt1 T A 10: 128,511,008 I1071L probably benign Het
Fbn2 T C 18: 58,076,705 K1035E probably benign Het
Frem1 T G 4: 82,959,334 E1335D probably benign Het
Gm5900 A G 7: 104,950,133 noncoding transcript Het
Ikbke T A 1: 131,271,835 Q283L possibly damaging Het
Lepr A T 4: 101,764,944 I358F probably benign Het
Lnpk A G 2: 74,548,048 V123A probably damaging Het
Mis12 A G 11: 71,025,531 K130R probably damaging Het
Ncapg2 T A 12: 116,425,906 probably null Het
Npy6r T C 18: 44,276,627 *372Q probably null Het
Polr3d T C 14: 70,440,117 D273G probably damaging Het
Ppp2r3a A G 9: 101,211,693 V477A probably benign Het
Prpf19 T A 19: 10,902,964 probably benign Het
Pwwp2a A G 11: 43,706,035 T676A possibly damaging Het
Ralgapb T A 2: 158,443,309 I242N probably damaging Het
Scn3a A T 2: 65,461,187 S1738R probably damaging Het
Snapc1 C A 12: 73,982,487 P348Q probably benign Het
Spert T C 14: 75,583,157 D385G probably damaging Het
Tbc1d7 T C 13: 43,165,398 I88V probably benign Het
Tnks2 T C 19: 36,872,451 S220P probably damaging Het
Trim56 A T 5: 137,112,906 S585R probably damaging Het
Trpm2 T G 10: 77,912,669 E1389A probably benign Het
Tspear T A 10: 77,706,965 probably benign Het
Vmn1r180 T C 7: 23,953,075 I221T probably damaging Het
Vmn1r204 A C 13: 22,556,630 I144L probably benign Het
Vmn2r20 A T 6: 123,385,365 I820N probably damaging Het
Vwa3b T A 1: 37,175,565 probably benign Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Other mutations in Wnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Wnt1 APN 15 98792523 missense possibly damaging 0.47
IGL01528:Wnt1 APN 15 98791833 missense probably damaging 1.00
R1341:Wnt1 UTSW 15 98791883 missense probably damaging 1.00
R1773:Wnt1 UTSW 15 98791757 missense probably damaging 1.00
Posted On2015-04-16