Incidental Mutation 'R1341:Wnt1'
ID 157065
Institutional Source Beutler Lab
Gene Symbol Wnt1
Ensembl Gene ENSMUSG00000022997
Gene Name wingless-type MMTV integration site family, member 1
Synonyms Int-1, Wnt-1
MMRRC Submission 039406-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.942) question?
Stock # R1341 (G1)
Quality Score 198
Status Validated
Chromosome 15
Chromosomal Location 98687738-98691711 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98689764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 184 (F184L)
Ref Sequence ENSEMBL: ENSMUSP00000023734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023734]
AlphaFold P04426
Predicted Effect probably damaging
Transcript: ENSMUST00000023734
AA Change: F184L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023734
Gene: ENSMUSG00000022997
AA Change: F184L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
WNT1 60 370 3.09e-212 SMART
Meta Mutation Damage Score 0.8642 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 96% (53/55)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v0e2 A G 6: 48,517,045 (GRCm39) Y75C probably benign Het
Bltp3a T C 17: 28,096,393 (GRCm39) probably benign Het
Cacna1g A G 11: 94,324,582 (GRCm39) L1190P probably damaging Het
Ccdc190 A G 1: 169,757,586 (GRCm39) D15G probably damaging Het
Cep126 G T 9: 8,099,777 (GRCm39) P919Q possibly damaging Het
Cfhr4 T A 1: 139,660,131 (GRCm39) T665S probably damaging Het
Chchd6 A G 6: 89,361,623 (GRCm39) V260A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cramp1 T C 17: 25,196,514 (GRCm39) K867E probably damaging Het
Dnah6 A T 6: 73,168,602 (GRCm39) N440K probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17421 A T 12: 113,333,334 (GRCm39) noncoding transcript Het
H2bc13 T C 13: 21,900,280 (GRCm39) K12E probably benign Het
Hdac3 A G 18: 38,087,766 (GRCm39) V36A probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Itga10 G A 3: 96,559,811 (GRCm39) E489K probably damaging Het
Mgat5b A C 11: 116,869,223 (GRCm39) I589L probably benign Het
Mindy4 A G 6: 55,232,601 (GRCm39) N348S probably benign Het
Mmp15 A G 8: 96,098,931 (GRCm39) D586G probably benign Het
Mmp9 A G 2: 164,791,247 (GRCm39) D139G probably damaging Het
Morc2a C A 11: 3,630,216 (GRCm39) L471I possibly damaging Het
Mycbp2 T A 14: 103,536,303 (GRCm39) probably benign Het
Mylip T A 13: 45,559,412 (GRCm39) S105T probably damaging Het
Nat8f4 A T 6: 85,878,406 (GRCm39) L39Q probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Obscn T C 11: 58,920,198 (GRCm39) probably benign Het
Or10ak13 T C 4: 118,639,579 (GRCm39) T68A probably benign Het
Or11m3 G A 15: 98,396,135 (GRCm39) V261M possibly damaging Het
Or51k2 T A 7: 103,596,589 (GRCm39) V272D possibly damaging Het
Or5t7 T C 2: 86,507,507 (GRCm39) M57V possibly damaging Het
Or9k2 G T 10: 129,999,185 (GRCm39) D3E probably benign Het
Pramel29 T C 4: 143,934,129 (GRCm39) D326G probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rab11fip1 G T 8: 27,633,388 (GRCm39) A1106E probably damaging Het
Rfc1 A G 5: 65,448,537 (GRCm39) S363P probably damaging Het
Skint10 A G 4: 112,622,228 (GRCm39) probably benign Het
Spen T C 4: 141,196,711 (GRCm39) N3595D possibly damaging Het
Swsap1 A G 9: 21,868,450 (GRCm39) K241E probably benign Het
Tab1 A G 15: 80,044,315 (GRCm39) T448A possibly damaging Het
Tktl1 G T X: 73,241,289 (GRCm39) G302V probably damaging Het
Usp25 A G 16: 76,912,331 (GRCm39) T1017A probably benign Het
Vmn2r78 T A 7: 86,571,477 (GRCm39) M429K possibly damaging Het
Wdr49 A T 3: 75,336,640 (GRCm39) F356I probably damaging Het
Yy1 T C 12: 108,759,445 (GRCm39) I36T unknown Het
Zbtb39 A G 10: 127,579,369 (GRCm39) I648V possibly damaging Het
Other mutations in Wnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Wnt1 APN 15 98,690,404 (GRCm39) missense possibly damaging 0.47
IGL01528:Wnt1 APN 15 98,689,714 (GRCm39) missense probably damaging 1.00
IGL02653:Wnt1 APN 15 98,690,336 (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
Predicted Primers PCR Primer
(F):5'- AAACAGCGTTCATCTTCGCAATCAC -3'
(R):5'- TCCACGCCAGCAAGTCACTTTTATC -3'

Sequencing Primer
(F):5'- ATCTTCGCAATCACCTCCG -3'
(R):5'- ACGTGTTGATAGCCTGCTAATC -3'
Posted On 2014-02-11