Incidental Mutation 'IGL01528:Wnt1'
ID 89645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt1
Ensembl Gene ENSMUSG00000022997
Gene Name wingless-type MMTV integration site family, member 1
Synonyms Int-1, Wnt-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # IGL01528
Quality Score
Status
Chromosome 15
Chromosomal Location 98687738-98691711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98689714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 167 (W167L)
Ref Sequence ENSEMBL: ENSMUSP00000023734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023734]
AlphaFold P04426
Predicted Effect probably damaging
Transcript: ENSMUST00000023734
AA Change: W167L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023734
Gene: ENSMUSG00000022997
AA Change: W167L

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,451,190 (GRCm39) probably benign Het
Cdc45 A G 16: 18,630,311 (GRCm39) F2S probably damaging Het
Cdon A G 9: 35,381,403 (GRCm39) R598G possibly damaging Het
Cemip2 T C 19: 21,812,909 (GRCm39) V1038A possibly damaging Het
Dusp22 C T 13: 30,889,611 (GRCm39) T64I probably benign Het
Gfer T A 17: 24,914,903 (GRCm39) T47S probably benign Het
Gfra2 T C 14: 71,203,738 (GRCm39) S296P possibly damaging Het
Gjb2 G A 14: 57,338,125 (GRCm39) L28F probably damaging Het
Gm17782 A G 17: 36,472,682 (GRCm39) probably benign Het
Gm2832 T C 14: 41,003,670 (GRCm39) V167A unknown Het
Gpr155 A G 2: 73,192,767 (GRCm39) probably null Het
Gpr45 A G 1: 43,072,383 (GRCm39) H342R probably benign Het
Gsdmd A T 15: 75,735,354 (GRCm39) T33S possibly damaging Het
Hal T A 10: 93,333,455 (GRCm39) L341Q probably damaging Het
Igfbp7 T G 5: 77,499,179 (GRCm39) D273A probably damaging Het
Kdm2a T C 19: 4,393,083 (GRCm39) D424G probably benign Het
Kif13a C T 13: 47,018,313 (GRCm39) probably benign Het
Krt35 A T 11: 99,985,420 (GRCm39) L207Q probably damaging Het
Lrp1b A T 2: 40,809,194 (GRCm39) D2572E probably damaging Het
Lrp2 A G 2: 69,322,804 (GRCm39) V1848A probably damaging Het
Myo9a T C 9: 59,686,957 (GRCm39) Y21H probably damaging Het
Ncan G T 8: 70,562,731 (GRCm39) A509E probably benign Het
Or2q1 T C 6: 42,795,208 (GRCm39) S268P probably damaging Het
Pde11a G A 2: 76,025,300 (GRCm39) probably benign Het
Phf19 G T 2: 34,787,119 (GRCm39) D448E probably damaging Het
Ptprj A T 2: 90,282,488 (GRCm39) V799D probably damaging Het
Rpgrip1 T A 14: 52,349,634 (GRCm39) Y7* probably null Het
Sema3c A G 5: 17,919,413 (GRCm39) H483R probably benign Het
Slc4a11 A G 2: 130,527,328 (GRCm39) probably benign Het
St3gal1 C A 15: 66,984,466 (GRCm39) R103L probably benign Het
Tet2 A T 3: 133,186,059 (GRCm39) V1126E possibly damaging Het
Tmem117 A T 15: 94,992,545 (GRCm39) I402L probably benign Het
Ttc28 T A 5: 111,249,826 (GRCm39) probably benign Het
Ttn A T 2: 76,702,182 (GRCm39) probably benign Het
Vmn1r7 T A 6: 57,001,532 (GRCm39) M243L probably benign Het
Zfp553 G T 7: 126,835,387 (GRCm39) S314I probably damaging Het
Zranb2 T C 3: 157,250,602 (GRCm39) probably benign Het
Other mutations in Wnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Wnt1 APN 15 98,690,404 (GRCm39) missense possibly damaging 0.47
IGL02653:Wnt1 APN 15 98,690,336 (GRCm39) missense probably damaging 1.00
R1341:Wnt1 UTSW 15 98,689,764 (GRCm39) missense probably damaging 1.00
R1773:Wnt1 UTSW 15 98,689,638 (GRCm39) missense probably damaging 1.00
R8807:Wnt1 UTSW 15 98,690,645 (GRCm39) missense probably damaging 1.00
R8987:Wnt1 UTSW 15 98,689,624 (GRCm39) missense probably damaging 1.00
R9785:Wnt1 UTSW 15 98,688,752 (GRCm39) missense probably benign 0.04
Posted On 2013-12-03