Incidental Mutation 'IGL03347:Wnt9a'
ID 419522
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 # IGL03347
Quality Score
Status
Chromosome 11
Chromosomal Location 59197754-59224378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59221740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 213 (T213S)
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: T213S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000128
Gene: ENSMUSG00000000126
AA Change: T213S

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: T213S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104411
Gene: ENSMUSG00000000126
AA Change: T213S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,870,534 (GRCm39) S670T possibly damaging Het
Adamts9 G T 6: 92,864,413 (GRCm39) Y185* probably null Het
Ahcyl A G 16: 45,974,852 (GRCm39) V175A probably benign Het
Arid3a T A 10: 79,787,113 (GRCm39) S512R possibly damaging Het
Atf6b T C 17: 34,872,214 (GRCm39) V524A probably damaging Het
Camk2d A G 3: 126,590,550 (GRCm39) T254A probably damaging Het
Camsap2 G T 1: 136,208,724 (GRCm39) Q923K possibly damaging Het
Car10 G A 11: 92,991,122 (GRCm39) probably benign Het
Ccdc39 A G 3: 33,891,992 (GRCm39) L160P probably damaging Het
Cdh20 A T 1: 110,065,973 (GRCm39) D749V possibly damaging Het
Cox6a2 A T 7: 127,804,900 (GRCm39) probably benign Het
Cpne1 A T 2: 155,921,096 (GRCm39) Y65N probably damaging Het
Dnm1 T C 2: 32,243,199 (GRCm39) D8G probably benign Het
Emsy A G 7: 98,259,892 (GRCm39) S140P probably damaging Het
Fam13b G A 18: 34,595,104 (GRCm39) probably benign Het
Fbn2 T C 18: 58,146,737 (GRCm39) R2720G probably damaging Het
Fkbpl A G 17: 34,865,287 (GRCm39) probably benign Het
Gpr179 A G 11: 97,242,664 (GRCm39) L60P probably damaging Het
Iftap A G 2: 101,413,864 (GRCm39) probably null Het
Igsf10 A T 3: 59,239,321 (GRCm39) S287T possibly damaging Het
Kat2b G A 17: 53,931,379 (GRCm39) probably null Het
Kazald1 A G 19: 45,066,855 (GRCm39) D218G possibly damaging Het
Mbtd1 A G 11: 93,814,005 (GRCm39) E216G probably benign Het
Mtmr9 C A 14: 63,781,016 (GRCm39) V25L probably benign Het
Myo16 A G 8: 10,426,120 (GRCm39) probably null Het
Nfkbil1 A T 17: 35,439,559 (GRCm39) V318E probably damaging Het
Or2ag15 A T 7: 106,340,177 (GRCm39) probably benign Het
Or5g9 T C 2: 85,552,151 (GRCm39) V134A probably benign Het
Pidd1 A G 7: 141,019,081 (GRCm39) V800A probably damaging Het
Ptprs G A 17: 56,742,972 (GRCm39) S390L probably benign Het
Ralgapb G A 2: 158,307,880 (GRCm39) V729I possibly damaging Het
Sfrp5 T A 19: 42,187,207 (GRCm39) M288L probably benign Het
Slc26a1 C A 5: 108,821,676 (GRCm39) G71V probably damaging Het
Srcin1 A T 11: 97,416,170 (GRCm39) S1021T probably damaging Het
Supt6 A T 11: 78,123,011 (GRCm39) M124K possibly damaging Het
Thada A G 17: 84,705,633 (GRCm39) F1157S probably damaging Het
Tmcc2 A G 1: 132,285,390 (GRCm39) S424P probably damaging Het
Trim37 G A 11: 87,092,447 (GRCm39) R752Q possibly damaging Het
Unc80 A T 1: 66,734,625 (GRCm39) Q238L probably damaging Het
Vmn2r23 C A 6: 123,681,333 (GRCm39) H80Q probably benign Het
Zfp953 T A 13: 67,491,490 (GRCm39) Q154L probably benign Het
Other mutations in Wnt9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02526:Wnt9a APN 11 59,219,331 (GRCm39) missense probably damaging 0.99
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
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 2016-08-02