Incidental Mutation 'IGL01081:Wnt9b'
ID 52244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt9b
Ensembl Gene ENSMUSG00000018486
Gene Name wingless-type MMTV integration site family, member 9B
Synonyms clf1, Wnt15, clf, Wnt14b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01081
Quality Score
Status
Chromosome 11
Chromosomal Location 103618190-103640647 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103622836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 189 (R189K)
Ref Sequence ENSEMBL: ENSMUSP00000018630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018630]
AlphaFold O35468
Predicted Effect probably damaging
Transcript: ENSMUST00000018630
AA Change: R189K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486
AA Change: R189K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 44 52 N/A INTRINSIC
WNT1 58 358 5.38e-98 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. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice display neonatal lethality, disrupted ureteric bud branching, impaired Mullerian duct formation, and incompletely penetrant cleft lip and palate. In mice with alleles that decrease expression kidneys are smaller with fewer mature nephrons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or4e2 A G 14: 52,688,484 (GRCm39) T205A probably benign Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Wnt9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Wnt9b APN 11 103,621,907 (GRCm39) missense probably benign 0.13
IGL02348:Wnt9b APN 11 103,622,908 (GRCm39) missense probably damaging 1.00
market UTSW 11 103,622,054 (GRCm39) splice site probably null
R1711:Wnt9b UTSW 11 103,622,954 (GRCm39) missense probably damaging 1.00
R1956:Wnt9b UTSW 11 103,621,638 (GRCm39) missense probably damaging 1.00
R4044:Wnt9b UTSW 11 103,622,824 (GRCm39) missense probably damaging 1.00
R4572:Wnt9b UTSW 11 103,622,981 (GRCm39) missense probably damaging 1.00
R4619:Wnt9b UTSW 11 103,621,949 (GRCm39) missense probably benign 0.13
R5239:Wnt9b UTSW 11 103,622,054 (GRCm39) splice site probably null
R5260:Wnt9b UTSW 11 103,622,875 (GRCm39) missense possibly damaging 0.87
R6962:Wnt9b UTSW 11 103,624,515 (GRCm39) missense probably null 0.76
R7428:Wnt9b UTSW 11 103,621,643 (GRCm39) missense probably benign 0.05
R8186:Wnt9b UTSW 11 103,621,601 (GRCm39) missense probably damaging 0.99
R8693:Wnt9b UTSW 11 103,624,487 (GRCm39) missense probably damaging 0.98
Z1177:Wnt9b UTSW 11 103,624,476 (GRCm39) nonsense probably null
Z1177:Wnt9b UTSW 11 103,622,863 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21