Incidental Mutation 'IGL01517:Wnt9b'
ID90433
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt9b
Ensembl Gene ENSMUSG00000018486
Gene Namewingless-type MMTV integration site family, member 9B
SynonymsWnt15, Wnt14b, clf, clf1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01517
Quality Score
Status
Chromosome11
Chromosomal Location103727364-103749821 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103731081 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 250 (V250A)
Ref Sequence ENSEMBL: ENSMUSP00000018630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018630]
Predicted Effect probably benign
Transcript: ENSMUST00000018630
AA Change: V250A

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486
AA Change: V250A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Arpc1b A G 5: 145,127,869 probably benign Het
Ccdc54 G A 16: 50,589,917 L329F possibly damaging Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Cylc1 A G X: 111,119,030 T29A possibly damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gjb3 A C 4: 127,326,121 I206S probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Gpr22 C T 12: 31,708,710 probably benign Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nfkbia C T 12: 55,490,645 A220T probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Wnt9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Wnt9b APN 11 103732010 missense probably damaging 1.00
IGL02348:Wnt9b APN 11 103732082 missense probably damaging 1.00
market UTSW 11 103731228 splice site probably null
R1711:Wnt9b UTSW 11 103732128 missense probably damaging 1.00
R1956:Wnt9b UTSW 11 103730812 missense probably damaging 1.00
R4044:Wnt9b UTSW 11 103731998 missense probably damaging 1.00
R4572:Wnt9b UTSW 11 103732155 missense probably damaging 1.00
R4619:Wnt9b UTSW 11 103731123 missense probably benign 0.13
R5239:Wnt9b UTSW 11 103731228 splice site probably null
R5260:Wnt9b UTSW 11 103732049 missense possibly damaging 0.87
R6962:Wnt9b UTSW 11 103733689 missense probably null 0.76
R7428:Wnt9b UTSW 11 103730817 missense probably benign 0.05
Z1177:Wnt9b UTSW 11 103732037 missense probably damaging 1.00
Z1177:Wnt9b UTSW 11 103733650 nonsense probably null
Posted On2013-12-09