Incidental Mutation 'IGL01528:Wnt1'
ID89645
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 #IGL01528
Quality Score
Status
Chromosome15
Chromosomal Location98789857-98793837 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 98791833 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 167 (W167L)
Ref Sequence ENSEMBL: ENSMUSP00000023734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023734]
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: 21,539,894 probably benign Het
Cdc45 A G 16: 18,811,561 F2S probably damaging Het
Cdon A G 9: 35,470,107 R598G possibly damaging Het
Dusp22 C T 13: 30,705,628 T64I probably benign Het
Gfer T A 17: 24,695,929 T47S probably benign Het
Gfra2 T C 14: 70,966,298 S296P possibly damaging Het
Gjb2 G A 14: 57,100,668 L28F probably damaging Het
Gm17782 A G 17: 36,161,790 probably benign Het
Gm2832 T C 14: 41,281,713 V167A unknown Het
Gpr155 A G 2: 73,362,423 probably null Het
Gpr45 A G 1: 43,033,223 H342R probably benign Het
Gsdmd A T 15: 75,863,505 T33S possibly damaging Het
Hal T A 10: 93,497,593 L341Q probably damaging Het
Igfbp7 T G 5: 77,351,332 D273A probably damaging Het
Kdm2a T C 19: 4,343,055 D424G probably benign Het
Kif13a C T 13: 46,864,837 probably benign Het
Krt35 A T 11: 100,094,594 L207Q probably damaging Het
Lrp1b A T 2: 40,919,182 D2572E probably damaging Het
Lrp2 A G 2: 69,492,460 V1848A probably damaging Het
Myo9a T C 9: 59,779,674 Y21H probably damaging Het
Ncan G T 8: 70,110,081 A509E probably benign Het
Olfr450 T C 6: 42,818,274 S268P probably damaging Het
Pde11a G A 2: 76,194,956 probably benign Het
Phf19 G T 2: 34,897,107 D448E probably damaging Het
Ptprj A T 2: 90,452,144 V799D probably damaging Het
Rpgrip1 T A 14: 52,112,177 Y7* probably null Het
Sema3c A G 5: 17,714,415 H483R probably benign Het
Slc4a11 A G 2: 130,685,408 probably benign Het
St3gal1 C A 15: 67,112,617 R103L probably benign Het
Tet2 A T 3: 133,480,298 V1126E possibly damaging Het
Tmem117 A T 15: 95,094,664 I402L probably benign Het
Tmem2 T C 19: 21,835,545 V1038A possibly damaging Het
Ttc28 T A 5: 111,101,960 probably benign Het
Ttn A T 2: 76,871,838 probably benign Het
Vmn1r7 T A 6: 57,024,547 M243L probably benign Het
Zfp553 G T 7: 127,236,215 S314I probably damaging Het
Zranb2 T C 3: 157,544,965 probably benign Het
Other mutations in Wnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Wnt1 APN 15 98792523 missense possibly damaging 0.47
IGL02653:Wnt1 APN 15 98792455 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 On2013-12-03