Incidental Mutation 'R5239:Wnt9b'
ID 400630
Institutional Source Beutler Lab
Gene Symbol Wnt9b
Ensembl Gene ENSMUSG00000018486
Gene Name wingless-type MMTV integration site family, member 9B
Synonyms clf1, Wnt15, clf, Wnt14b
MMRRC Submission 042810-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5239 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103618190-103640647 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 103622054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000018630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018630]
AlphaFold O35468
Predicted Effect probably null
Transcript: ENSMUST00000018630
SMART Domains Protein: ENSMUSP00000018630
Gene: ENSMUSG00000018486

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 44 52 N/A INTRINSIC
WNT1 58 358 5.38e-98 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (60/64)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T C 2: 35,244,848 (GRCm39) N168S probably benign Het
Adam3 T A 8: 25,184,207 (GRCm39) T598S possibly damaging Het
Ago1 G T 4: 126,335,008 (GRCm39) H405N probably damaging Het
Atp8b4 T C 2: 126,234,781 (GRCm39) probably null Het
Baz1a A G 12: 54,945,129 (GRCm39) S1409P probably damaging Het
Brinp2 T C 1: 158,078,908 (GRCm39) E305G probably benign Het
Bub1 T A 2: 127,663,616 (GRCm39) R262W probably damaging Het
Cish T A 9: 107,177,111 (GRCm39) probably null Het
Clip4 T A 17: 72,106,072 (GRCm39) I85K probably damaging Het
Cpsf2 T A 12: 101,953,532 (GRCm39) C187* probably null Het
Ddx51 C A 5: 110,801,514 (GRCm39) T54K probably benign Het
Drc1 A T 5: 30,520,467 (GRCm39) T603S probably benign Het
Eif3l T A 15: 78,973,995 (GRCm39) M470K possibly damaging Het
Entpd2 A G 2: 25,290,830 (GRCm39) T445A probably damaging Het
Epha1 C A 6: 42,341,944 (GRCm39) V369L possibly damaging Het
Galnt9 T A 5: 110,692,635 (GRCm39) L23H probably damaging Het
Gm1110 A G 9: 26,804,866 (GRCm39) F399S probably benign Het
Gm43972 G A 5: 25,866,119 (GRCm39) noncoding transcript Het
Gm6489 T A 1: 31,326,351 (GRCm39) noncoding transcript Het
Grik5 A T 7: 24,764,895 (GRCm39) M82K probably damaging Het
Hibch T C 1: 52,904,767 (GRCm39) Y121H probably damaging Het
Hyou1 T A 9: 44,296,560 (GRCm39) I495N possibly damaging Het
Il1rl2 T C 1: 40,404,255 (GRCm39) S459P probably benign Het
Kel A T 6: 41,665,048 (GRCm39) L254* probably null Het
Lasp1 A G 11: 97,690,686 (GRCm39) K23E probably damaging Het
Lemd2 C A 17: 27,422,773 (GRCm39) R207L possibly damaging Het
Myh1 A T 11: 67,106,051 (GRCm39) Q1222L probably benign Het
Myh2 G A 11: 67,083,269 (GRCm39) V1411I probably benign Het
Myo1f T C 17: 33,820,709 (GRCm39) F851L probably benign Het
Myom3 G A 4: 135,528,303 (GRCm39) probably benign Het
Nbas C A 12: 13,491,519 (GRCm39) L1464I probably benign Het
Nr2e3 G T 9: 59,857,059 (GRCm39) probably benign Het
Nrxn1 T C 17: 91,011,537 (GRCm39) D364G probably damaging Het
Or2y1 A G 11: 49,385,555 (GRCm39) H65R possibly damaging Het
Or5p68 T A 7: 107,945,853 (GRCm39) T112S probably benign Het
Or8g54 T A 9: 39,707,492 (GRCm39) S274T probably damaging Het
Or9g4b T G 2: 85,616,002 (GRCm39) I49S probably damaging Het
Otog T A 7: 45,936,859 (GRCm39) S1523T probably benign Het
Pcnx2 A T 8: 126,587,821 (GRCm39) probably null Het
Pkdcc C A 17: 83,523,413 (GRCm39) H173Q probably damaging Het
Pkn1 A G 8: 84,410,811 (GRCm39) L267P probably damaging Het
Polr1a A G 6: 71,890,021 (GRCm39) H80R probably damaging Het
Pwwp3a C T 10: 80,064,255 (GRCm39) R14* probably null Het
Rag1 G T 2: 101,473,300 (GRCm39) A614E possibly damaging Het
Ryr1 T C 7: 28,735,553 (GRCm39) D4075G probably damaging Het
Sdk2 C A 11: 113,758,859 (GRCm39) R455L probably damaging Het
Smoc2 A G 17: 14,589,227 (GRCm39) N232S probably benign Het
Snd1 T C 6: 28,545,524 (GRCm39) L360P probably damaging Het
Tmem26 T A 10: 68,587,096 (GRCm39) F181L probably damaging Het
Tnrc6a A G 7: 122,785,842 (GRCm39) M1512V probably benign Het
Tsc22d1 T A 14: 76,655,852 (GRCm39) I20N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r122 T C 7: 20,868,023 (GRCm39) T11A possibly damaging Het
Vpreb1a A T 16: 16,686,592 (GRCm39) Y99* probably null Het
Zfp143 A G 7: 109,693,559 (GRCm39) E604G probably damaging Het
Other mutations in Wnt9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Wnt9b APN 11 103,622,836 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCCATGTAGACCAGGTCCC -3'
(R):5'- AAGGGTCGGAGTTCCAATTC -3'

Sequencing Primer
(F):5'- TTAGCGGGGGCCCATAG -3'
(R):5'- AGTTGTGCAGGCTGAACACTC -3'
Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.
 

PCR Primers

R52390049_PCR_F: 5’- TTCCATGTAGACCAGGTCCC-3’

R52390049_PCR_R: 5’- AAGGGTCGGAGTTCCAATTC-3’

Sequencing Primers

R52390049_SEQ_F: 5’- TTAGCGGGGGCCCATAG-3’
 

R52390049_SEQ_R: 5’- AGTTGTGCAGGCTGAACACTC-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 597 nucleotides is amplified:

ttccatgtag accaggtccc cgggacgagg ggctaggccc ttggcgggac cacctggctt        
agcgggggcc catagctcca gacgacccaa ggcctcgttg gtggcactgg acaccttgac       
agccgtgtca tagcgtagct tcagcacctg gccggtctcg cgaaacgggg agagctgctt       
ccaacaggta cgaacagcac aggagcctga cacaccatgg cacttgcagg ttgttctcag       
gccgctcttc acagcctgca gggagagcca gagtaggggt ctgtcagtgg gtctaagcaa       
gccgggtttg ctgtgacagt tctgccaagg agtgtcaaca gaataaagag gcaggaagac       
ccacgtgaag gtgacagcgc cagggtcaca atgacccggg atcctcaaag tatctttgtg       
taaagttgga aaaattttcc cttcctctaa gcagtgcaca cctaggcaag ggtagtgtgg       
gccctatctc aaccaacaac agctcttccc cttggcccag agttcttctg gagtgttcag       
cctgcacaac tgaacacggc agcctgattt cctaaaagaa ttggaactcc gaccctt

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>A).
Posted On 2016-07-06