Incidental Mutation 'IGL01320:Wnt1'
ID74009
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 #IGL01320
Quality Score
Status
Chromosome15
Chromosomal Location98789857-98793837 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 98792523 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 244 (D244E)
Ref Sequence ENSEMBL: ENSMUSP00000023734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023734]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023734
AA Change: D244E

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023734
Gene: ENSMUSG00000022997
AA Change: D244E

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Other mutations in Wnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Wnt1 APN 15 98791833 missense probably damaging 1.00
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 On2013-10-07