Incidental Mutation 'R4206:Wnt4'
ID 318908
Institutional Source Beutler Lab
Gene Symbol Wnt4
Ensembl Gene ENSMUSG00000036856
Gene Name wingless-type MMTV integration site family, member 4
Synonyms Wnt-4
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 137277489-137299726 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137296343 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 207 (K207R)
Ref Sequence ENSEMBL: ENSMUSP00000036580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045747]
AlphaFold P22724
Predicted Effect possibly damaging
Transcript: ENSMUST00000045747
AA Change: K207R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036580
Gene: ENSMUSG00000036856
AA Change: K207R

signal peptide 1 21 N/A INTRINSIC
WNT1 45 350 1.7e-211 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
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 which 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, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit impaired development of the kidney, pituitary gland, and female reproductive system. Mutants die within 24 hours of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,515 K81R probably benign Het
Acacb T C 5: 114,213,651 F1150L probably benign Het
Acat3 A G 17: 12,927,386 Y237H possibly damaging Het
Arfgap3 T C 15: 83,322,668 T240A probably benign Het
Cabin1 T C 10: 75,754,841 S23G possibly damaging Het
Clasp1 A G 1: 118,578,906 N949S probably damaging Het
Csrp1 T G 1: 135,745,327 C61G probably damaging Het
Dgka A T 10: 128,721,195 L637Q probably damaging Het
Dst G A 1: 34,212,247 R1801H probably damaging Het
Edil3 T C 13: 89,180,278 S284P probably damaging Het
Eif2d A G 1: 131,154,363 Y64C probably damaging Het
Ell2 A G 13: 75,761,948 D139G probably damaging Het
Fam187a A G 11: 102,886,212 R281G probably damaging Het
Gin1 A G 1: 97,792,420 D380G possibly damaging Het
Gpr149 T G 3: 62,604,503 D25A possibly damaging Het
Gyg A G 3: 20,152,737 S90P probably benign Het
Hpx C T 7: 105,595,147 M190I probably null Het
Irf2bpl C T 12: 86,883,036 V288I probably benign Het
Lyst A G 13: 13,635,989 H748R probably benign Het
Mmrn1 G A 6: 60,958,180 G220D probably damaging Het
Mpdz A T 4: 81,381,762 M333K probably benign Het
Muc5ac C T 7: 141,817,110 S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 84,716,247 probably null Het
Ntsr1 A G 2: 180,500,752 D112G probably damaging Het
Olfr1410 A C 1: 92,608,595 T253P possibly damaging Het
Olfr657 T A 7: 104,636,149 N158K possibly damaging Het
Olfr8 T C 10: 78,955,283 F26S probably benign Het
Parg A G 14: 32,254,536 K178R probably benign Het
Pde8b C A 13: 95,222,545 C90F probably benign Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Rad54l2 A C 9: 106,717,795 V321G probably damaging Het
Rcn2 A G 9: 56,045,207 Y112C possibly damaging Het
Rnf123 A T 9: 108,063,963 D639E probably benign Het
Rufy2 C T 10: 63,004,772 Q441* probably null Het
Scgb2b12 T C 7: 32,326,638 Y43C probably damaging Het
Scrn3 T A 2: 73,319,501 probably null Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc22a8 T C 19: 8,608,233 S321P probably benign Het
Tex11 C A X: 100,933,415 A487S possibly damaging Het
Tex2 A G 11: 106,567,572 probably benign Het
Tmem2 G T 19: 21,842,115 R1090L probably damaging Het
Trip13 A G 13: 73,932,890 I119T probably benign Het
Tsku C T 7: 98,352,998 R42H probably damaging Het
Ttn A G 2: 76,772,567 I16691T possibly damaging Het
Tyr A G 7: 87,429,068 L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 V142A probably damaging Het
Uggt2 C T 14: 119,049,262 D221N probably damaging Het
Zfp608 T C 18: 54,988,195 R107G probably damaging Het
Other mutations in Wnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03037:Wnt4 APN 4 137289161 missense possibly damaging 0.93
R0328:Wnt4 UTSW 4 137295443 missense probably damaging 0.99
R0791:Wnt4 UTSW 4 137289283 missense probably damaging 1.00
R2332:Wnt4 UTSW 4 137296520 missense probably benign 0.04
R5269:Wnt4 UTSW 4 137277750 missense probably benign 0.00
R9664:Wnt4 UTSW 4 137296618 missense probably benign 0.11
X0064:Wnt4 UTSW 4 137277746 missense probably benign 0.11
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-10