Incidental Mutation 'IGL02348:Wnt9b'
ID289361
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 #IGL02348
Quality Score
Status
Chromosome11
Chromosomal Location103727364-103749821 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 103732082 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 165 (G165D)
Ref Sequence ENSEMBL: ENSMUSP00000018630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018630]
Predicted Effect probably damaging
Transcript: ENSMUST00000018630
AA Change: G165D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486
AA Change: G165D

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik T C 2: 85,493,296 I298V possibly damaging Het
Akap12 G A 10: 4,354,722 D511N probably damaging Het
Akt3 T A 1: 177,059,386 D299V probably damaging Het
Arfgef3 G A 10: 18,591,347 P2035L probably benign Het
Atp13a3 C T 16: 30,351,228 probably null Het
Capn9 C A 8: 124,594,677 P151T probably damaging Het
Csrnp1 T A 9: 119,972,643 D450V probably damaging Het
Ctrb1 C T 8: 111,687,130 A201T possibly damaging Het
Erp27 T C 6: 136,911,546 T145A probably damaging Het
Fanca A T 8: 123,305,263 L256Q probably damaging Het
Fars2 G A 13: 36,537,380 V433I probably benign Het
Fbxo9 T A 9: 78,109,007 M1L probably benign Het
Fcnb C A 2: 28,084,830 V10F possibly damaging Het
Gad2 C T 2: 22,629,393 H175Y probably damaging Het
Get4 G A 5: 139,252,499 G12D probably benign Het
Gmpr2 T A 14: 55,678,301 I312N probably damaging Het
Golm1 T A 13: 59,638,377 M334L probably benign Het
Itgam T A 7: 128,116,300 F1054L possibly damaging Het
Kcnk7 C A 19: 5,706,473 probably benign Het
Kif3b G A 2: 153,316,893 A205T probably damaging Het
Macf1 C T 4: 123,512,866 V276M probably damaging Het
Mdga2 T A 12: 66,550,575 N715I probably damaging Het
Mfap5 T A 6: 122,526,787 S103R possibly damaging Het
Nckap1 C T 2: 80,517,982 V876M probably damaging Het
Ncor1 A T 11: 62,333,659 probably benign Het
Nfya G A 17: 48,393,276 Q122* probably null Het
Nup210l G A 3: 90,104,164 probably benign Het
Olfr190 T G 16: 59,074,949 I44L probably damaging Het
Pcdhb19 T A 18: 37,498,808 L552Q probably damaging Het
Psmd2 T A 16: 20,654,647 S153T probably benign Het
Ptpn4 T C 1: 119,682,722 Y685C probably damaging Het
Rad54l2 T C 9: 106,720,376 R144G probably damaging Het
S1pr4 A C 10: 81,499,021 Y206* probably null Het
Slc39a14 A G 14: 70,316,436 probably null Het
Stx2 G A 5: 128,988,830 A254V probably damaging Het
Sumf2 G T 5: 129,859,870 G216C probably damaging Het
Tbc1d32 A G 10: 56,224,619 S88P probably benign Het
Trem1 T A 17: 48,232,796 M1K probably null Het
Trmt1l T C 1: 151,450,006 Y401H probably damaging Het
Ttc22 A T 4: 106,622,938 M130L probably damaging Het
Wnk1 T C 6: 119,963,328 E816G probably damaging Het
Zscan21 A G 5: 138,133,383 T390A probably damaging Het
Zswim7 G T 11: 62,268,755 C85* probably null Het
Other mutations in Wnt9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Wnt9b APN 11 103732010 missense probably damaging 1.00
IGL01517:Wnt9b APN 11 103731081 missense probably benign 0.13
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
Posted On2015-04-16