Incidental Mutation 'IGL02526:Wnt9a'
ID 297087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt9a
Ensembl Gene ENSMUSG00000000126
Gene Name wingless-type MMTV integration site family, member 9A
Synonyms Wnt14
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02526
Quality Score
Status
Chromosome 11
Chromosomal Location 59197754-59224378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59219331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 119 (F119S)
Ref Sequence ENSEMBL: ENSMUSP00000104411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000128] [ENSMUST00000108783]
AlphaFold Q8R5M2
Predicted Effect probably damaging
Transcript: ENSMUST00000000128
AA Change: F119S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000128
Gene: ENSMUSG00000000126
AA Change: F119S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 37 52 N/A INTRINSIC
WNT1 59 364 5.57e-82 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108783
AA Change: F119S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104411
Gene: ENSMUSG00000000126
AA Change: F119S

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 37 52 N/A INTRINSIC
WNT1 59 364 8.97e-86 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 that 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 expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in neonatal lethality, altered chondrocyte maturation, cranial defects, and skeletal abnormalities including shortened appendicular long bones, partial joint fusions of carpal and tarsal elements, and chondroid metaplasia in synovial and fibrous joints. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,784,923 (GRCm39) V231A probably damaging Het
Aff4 T C 11: 53,297,509 (GRCm39) probably benign Het
Ano2 G A 6: 125,849,714 (GRCm39) probably null Het
Aspm A G 1: 139,417,457 (GRCm39) E2818G probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Caprin1 T C 2: 103,605,948 (GRCm39) probably benign Het
Clca3a2 T C 3: 144,793,779 (GRCm39) H292R probably benign Het
Dnah11 G A 12: 118,143,353 (GRCm39) T430M possibly damaging Het
Fgd6 A G 10: 93,936,373 (GRCm39) N902S probably benign Het
Grm3 A G 5: 9,639,847 (GRCm39) I66T probably damaging Het
H13 T A 2: 152,530,602 (GRCm39) F158L probably damaging Het
Kcnb2 A G 1: 15,780,979 (GRCm39) E617G probably damaging Het
Kcnh7 T C 2: 62,680,781 (GRCm39) S269G possibly damaging Het
Krit1 T A 5: 3,872,103 (GRCm39) I376N probably damaging Het
Lonrf2 T A 1: 38,839,791 (GRCm39) M435L probably benign Het
Map2 A T 1: 66,419,876 (GRCm39) D69V possibly damaging Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Myh3 C T 11: 66,978,371 (GRCm39) P453S probably benign Het
Or51d1 T A 7: 102,348,291 (GRCm39) V282D possibly damaging Het
Pi4k2b T C 5: 52,925,081 (GRCm39) F442L probably damaging Het
Pla2g12b T A 10: 59,252,275 (GRCm39) C49S probably damaging Het
Polr2a C T 11: 69,630,293 (GRCm39) R1258Q probably benign Het
Prmt8 A C 6: 127,688,786 (GRCm39) S195A probably damaging Het
Pwp1 T A 10: 85,717,967 (GRCm39) probably null Het
Rxfp1 C A 3: 79,578,153 (GRCm39) probably null Het
Skor1 A T 9: 63,053,159 (GRCm39) M270K probably damaging Het
Slc12a4 T C 8: 106,676,438 (GRCm39) N495D possibly damaging Het
Slc26a3 T C 12: 31,507,095 (GRCm39) V350A probably damaging Het
Slc44a4 T A 17: 35,147,463 (GRCm39) V430D probably damaging Het
Slit2 C A 5: 48,461,565 (GRCm39) C1537* probably null Het
Tas2r135 A T 6: 42,383,214 (GRCm39) H251L probably damaging Het
Tbr1 T C 2: 61,642,042 (GRCm39) F436L probably benign Het
Them6 A T 15: 74,593,504 (GRCm39) T121S possibly damaging Het
Tmem145 G A 7: 25,007,657 (GRCm39) M221I probably benign Het
Trrap T C 5: 144,761,360 (GRCm39) V2300A probably benign Het
Usf3 C A 16: 44,040,674 (GRCm39) A1718D possibly damaging Het
Usp10 C A 8: 120,675,514 (GRCm39) S511Y probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zc3h7b G A 15: 81,677,338 (GRCm39) G880S probably benign Het
Other mutations in Wnt9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02550:Wnt9a APN 11 59,221,744 (GRCm39) missense probably damaging 1.00
IGL03131:Wnt9a APN 11 59,221,855 (GRCm39) missense probably damaging 0.97
IGL03347:Wnt9a APN 11 59,221,740 (GRCm39) missense probably damaging 1.00
R1764:Wnt9a UTSW 11 59,221,728 (GRCm39) missense probably benign 0.13
R2073:Wnt9a UTSW 11 59,222,055 (GRCm39) missense probably damaging 1.00
R4502:Wnt9a UTSW 11 59,219,363 (GRCm39) missense probably damaging 1.00
R4571:Wnt9a UTSW 11 59,222,163 (GRCm39) missense probably damaging 1.00
R4845:Wnt9a UTSW 11 59,222,067 (GRCm39) missense probably benign 0.24
R5268:Wnt9a UTSW 11 59,219,396 (GRCm39) missense probably damaging 1.00
R7501:Wnt9a UTSW 11 59,219,583 (GRCm39) missense probably damaging 0.99
R9390:Wnt9a UTSW 11 59,218,592 (GRCm39) missense possibly damaging 0.75
Z1177:Wnt9a UTSW 11 59,221,989 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16