Incidental Mutation 'R4845:Wnt9a'
ID 372119
Institutional Source Beutler Lab
Gene Symbol Wnt9a
Ensembl Gene ENSMUSG00000000126
Gene Name wingless-type MMTV integration site family, member 9A
Synonyms Wnt14
MMRRC Submission 042458-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4845 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 59197754-59224378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59222067 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 322 (I322V)
Ref Sequence ENSEMBL: ENSMUSP00000104411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000128] [ENSMUST00000108783]
AlphaFold Q8R5M2
Predicted Effect probably benign
Transcript: ENSMUST00000000128
AA Change: I322V

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000128
Gene: ENSMUSG00000000126
AA Change: I322V

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 benign
Transcript: ENSMUST00000108783
AA Change: I322V

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104411
Gene: ENSMUSG00000000126
AA Change: I322V

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,333,057 (GRCm39) S600F possibly damaging Het
Arhgap21 T A 2: 20,885,998 (GRCm39) N393I probably damaging Het
Atp5pf T A 16: 84,628,365 (GRCm39) I6F possibly damaging Het
B4galt6 A G 18: 20,821,517 (GRCm39) L337S probably benign Het
C8b G T 4: 104,649,009 (GRCm39) V308F possibly damaging Het
Cables1 A G 18: 12,077,545 (GRCm39) R558G probably damaging Het
Chmp2b T A 16: 65,347,862 (GRCm39) Q38L probably damaging Het
Clca3b A T 3: 144,531,031 (GRCm39) I773K probably benign Het
Cnmd T C 14: 79,899,448 (GRCm39) T2A probably benign Het
Crb1 C T 1: 139,170,772 (GRCm39) D812N probably benign Het
Dnah7c T A 1: 46,832,692 (GRCm39) D3901E probably damaging Het
Dst T C 1: 34,232,208 (GRCm39) V3445A probably benign Het
Epn1 T A 7: 5,096,908 (GRCm39) I230N possibly damaging Het
Exoc6b G T 6: 84,812,119 (GRCm39) D627E probably benign Het
Exosc1 T C 19: 41,919,797 (GRCm39) K74E possibly damaging Het
Extl3 T C 14: 65,315,024 (GRCm39) T53A probably benign Het
Fam227a C T 15: 79,533,912 (GRCm39) R17H probably damaging Het
Faxc G T 4: 21,993,358 (GRCm39) W334L probably damaging Het
Gabrr3 T C 16: 59,246,833 (GRCm39) I94T probably damaging Het
Ifi203 A T 1: 173,754,595 (GRCm39) M298K probably benign Het
Igkv4-78 A T 6: 69,037,207 (GRCm39) M1K probably null Het
Iqcm G T 8: 76,472,980 (GRCm39) R273I probably damaging Het
Itga1 G T 13: 115,110,708 (GRCm39) S961* probably null Het
Jmy T A 13: 93,576,246 (GRCm39) M886L possibly damaging Het
Lrp2 T C 2: 69,339,585 (GRCm39) T1109A possibly damaging Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Mettl14 T A 3: 123,165,004 (GRCm39) E112V probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Musk A G 4: 58,296,679 (GRCm39) D93G probably damaging Het
Myoc C T 1: 162,475,034 (GRCm39) T195M possibly damaging Het
Ncapg2 A G 12: 116,404,208 (GRCm39) D893G probably damaging Het
Nrap C T 19: 56,339,902 (GRCm39) V908M probably benign Het
Or4a79 T C 2: 89,552,120 (GRCm39) I112V probably benign Het
Or52n5 T C 7: 104,588,570 (GRCm39) V279A possibly damaging Het
Or5g9 T A 2: 85,551,836 (GRCm39) L29* probably null Het
Orc4 T C 2: 48,799,478 (GRCm39) N333S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 G A 18: 37,489,771 (GRCm39) G483D probably benign Het
Pclo A T 5: 14,729,132 (GRCm39) probably benign Het
Ppm1k A T 6: 57,499,753 (GRCm39) Y174* probably null Het
Ptprq A T 10: 107,489,393 (GRCm39) S911T probably benign Het
Rp1 C A 1: 4,419,451 (GRCm39) A554S probably benign Het
Sema3f T C 9: 107,562,700 (GRCm39) Y427C probably damaging Het
Slc12a1 A T 2: 125,030,146 (GRCm39) I573F probably damaging Het
Slc17a1 A T 13: 24,060,601 (GRCm39) Y201F probably damaging Het
Slc4a7 A T 14: 14,733,803 (GRCm38) H71L probably damaging Het
Spata6l G T 19: 28,905,148 (GRCm39) D305E probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tab1 C T 15: 80,036,964 (GRCm39) R217W probably damaging Het
Taf6 T A 5: 138,180,909 (GRCm39) Y224F possibly damaging Het
Tmc5 C G 7: 118,241,604 (GRCm39) F432L probably damaging Het
Trbc1 A T 6: 41,516,169 (GRCm39) probably benign Het
Trbv21 A G 6: 41,179,879 (GRCm39) N65S probably benign Het
Trim15 G A 17: 37,177,875 (GRCm39) P40L probably benign Het
Txnip T C 3: 96,466,916 (GRCm39) S197P probably benign Het
Vmn1r167 T A 7: 23,204,158 (GRCm39) Q286L probably benign Het
Zfp879 T C 11: 50,724,672 (GRCm39) E128G probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- AATATGAGACCTCGCTCAAGG -3'
(R):5'- TGCAAAGTCCACACCGCTTG -3'

Sequencing Primer
(F):5'- TGGGCAGCACTACCAATG -3'
(R):5'- CGCTTGCGGTGGAGCTG -3'
Posted On 2016-03-01