Incidental Mutation 'R0328:Wnt4'
ID 25834
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 038537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0328 (G1)
Quality Score 205
Status Validated
Chromosome 4
Chromosomal Location 137004946-137026812 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137022754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 106 (T106A)
Ref Sequence ENSEMBL: ENSMUSP00000036580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045747]
AlphaFold P22724
Predicted Effect probably damaging
Transcript: ENSMUST00000045747
AA Change: T106A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000036580
Gene: ENSMUSG00000036856
AA Change: T106A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
WNT1 45 350 1.7e-211 SMART
Meta Mutation Damage Score 0.9262 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.5%
  • 20x: 90.8%
Validation Efficiency 96% (46/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A T 2: 68,574,624 (GRCm39) H618L possibly damaging Het
Aacs T C 5: 125,593,323 (GRCm39) V642A probably benign Het
Alms1 A G 6: 85,587,796 (GRCm39) probably null Het
Arhgap39 A G 15: 76,636,152 (GRCm39) probably benign Het
Bard1 C T 1: 71,085,921 (GRCm39) V595I probably benign Het
Bptf T C 11: 106,937,953 (GRCm39) K2713E probably damaging Het
Calhm1 C T 19: 47,129,742 (GRCm39) G260D possibly damaging Het
Ccdc154 A C 17: 25,390,779 (GRCm39) K643T probably benign Het
Ccl4 T A 11: 83,554,383 (GRCm39) S59T probably damaging Het
Cntd1 T C 11: 101,174,259 (GRCm39) S73P probably benign Het
Colgalt2 A T 1: 152,348,859 (GRCm39) D168V probably damaging Het
Fam117a T C 11: 95,266,452 (GRCm39) probably benign Het
Fat1 A G 8: 45,476,827 (GRCm39) T1935A probably benign Het
Fbxw21 T A 9: 108,975,653 (GRCm39) I248F possibly damaging Het
Fhod3 A T 18: 25,246,657 (GRCm39) M1288L probably benign Het
Gm5114 T G 7: 39,057,885 (GRCm39) K578T probably damaging Het
Gxylt2 A T 6: 100,727,496 (GRCm39) probably benign Het
Helz G T 11: 107,495,174 (GRCm39) A383S probably benign Het
Ift172 C A 5: 31,421,195 (GRCm39) E968* probably null Het
Itpripl1 T C 2: 126,983,924 (GRCm39) N66S possibly damaging Het
Kcnma1 A G 14: 23,423,265 (GRCm39) Y686H probably damaging Het
Ndrg1 C A 15: 66,815,008 (GRCm39) probably benign Het
Ogdh T C 11: 6,297,216 (GRCm39) V545A probably benign Het
Or10al5 A G 17: 38,063,284 (GRCm39) I180V possibly damaging Het
P3h3 G A 6: 124,831,269 (GRCm39) probably benign Het
Ppme1 A T 7: 99,983,182 (GRCm39) probably null Het
Prkag1 T G 15: 98,713,563 (GRCm39) D44A probably damaging Het
Prpf39 T C 12: 65,090,145 (GRCm39) probably benign Het
Rabep1 C A 11: 70,810,033 (GRCm39) R489S probably damaging Het
Scn10a A G 9: 119,523,168 (GRCm39) V75A possibly damaging Het
Sema3d T C 5: 12,498,042 (GRCm39) L16P possibly damaging Het
Skida1 T C 2: 18,051,997 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,063,595 (GRCm39) Y2277C probably damaging Het
Syne1 A G 10: 5,298,945 (GRCm39) I1047T possibly damaging Het
Syt17 A G 7: 117,981,216 (GRCm39) Y369H probably benign Het
Tmem131l C T 3: 83,829,238 (GRCm39) probably benign Het
Traf3ip2 A T 10: 39,510,669 (GRCm39) D314V probably damaging Het
Ttc28 T G 5: 111,431,933 (GRCm39) probably benign Het
Ush1c A C 7: 45,874,872 (GRCm39) probably benign Het
Utp20 A T 10: 88,602,969 (GRCm39) Y1884N possibly damaging Het
Vmn2r112 T A 17: 22,824,251 (GRCm39) I502K probably benign Het
Vmn2r60 T C 7: 41,791,744 (GRCm39) probably benign Het
Vmn2r63 T C 7: 42,552,699 (GRCm39) I852M probably benign Het
Vmn2r9 T A 5: 108,995,405 (GRCm39) E414D probably benign Het
Zbtb26 A T 2: 37,326,807 (GRCm39) N76K possibly damaging Het
Zfhx2 T C 14: 55,309,445 (GRCm39) T885A probably benign Het
Other mutations in Wnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03037:Wnt4 APN 4 137,016,472 (GRCm39) missense possibly damaging 0.93
R0791:Wnt4 UTSW 4 137,016,594 (GRCm39) missense probably damaging 1.00
R2332:Wnt4 UTSW 4 137,023,831 (GRCm39) missense probably benign 0.04
R4206:Wnt4 UTSW 4 137,023,654 (GRCm39) missense possibly damaging 0.91
R5269:Wnt4 UTSW 4 137,005,061 (GRCm39) missense probably benign 0.00
R9664:Wnt4 UTSW 4 137,023,929 (GRCm39) missense probably benign 0.11
X0064:Wnt4 UTSW 4 137,005,057 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- AGAACCAGGACCTACTGTGTGCTC -3'
(R):5'- TGCCAGCCTCGTTGTTGTGAAG -3'

Sequencing Primer
(F):5'- CTACTGTGTGCTCGGCAGG -3'
(R):5'- GAGCATCCTGACCACTGGAAG -3'
Posted On 2013-04-16