Incidental Mutation 'IGL02526:Wnt9a'
ID297087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt9a
Ensembl Gene ENSMUSG00000000126
Gene Namewingless-type MMTV integration site family, member 9A
SynonymsWnt14
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02526
Quality Score
Status
Chromosome11
Chromosomal Location59306928-59333552 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59328505 bp
ZygosityHeterozygous
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]
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: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnb2 A G 1: 15,710,755 E617G probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pi4k2b T C 5: 52,767,739 F442L probably damaging Het
Pla2g12b T A 10: 59,416,453 C49S probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Prmt8 A C 6: 127,711,823 S195A probably damaging Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Them6 A T 15: 74,721,655 T121S possibly damaging Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usf3 C A 16: 44,220,311 A1718D possibly damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S probably benign Het
Other mutations in Wnt9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02550:Wnt9a APN 11 59330918 missense probably damaging 1.00
IGL03131:Wnt9a APN 11 59331029 missense probably damaging 0.97
IGL03347:Wnt9a APN 11 59330914 missense probably damaging 1.00
R1764:Wnt9a UTSW 11 59330902 missense probably benign 0.13
R2073:Wnt9a UTSW 11 59331229 missense probably damaging 1.00
R4502:Wnt9a UTSW 11 59328537 missense probably damaging 1.00
R4571:Wnt9a UTSW 11 59331337 missense probably damaging 1.00
R4845:Wnt9a UTSW 11 59331241 missense probably benign 0.24
R5268:Wnt9a UTSW 11 59328570 missense probably damaging 1.00
R7501:Wnt9a UTSW 11 59328757 missense probably damaging 0.99
Z1177:Wnt9a UTSW 11 59331163 missense probably damaging 1.00
Posted On2015-04-16