Incidental Mutation 'IGL02415:Wnt7a'
ID 292393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wnt7a
Ensembl Gene ENSMUSG00000030093
Gene Name wingless-type MMTV integration site family, member 7A
Synonyms tw, Wnt-7a
Accession Numbers
Essential gene? Possibly essential (E-score: 0.664) question?
Stock # IGL02415
Quality Score
Status
Chromosome 6
Chromosomal Location 91363981-91411363 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91394557 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 141 (Y141C)
Ref Sequence ENSEMBL: ENSMUSP00000032180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032180]
AlphaFold P24383
Predicted Effect probably damaging
Transcript: ENSMUST00000032180
AA Change: Y141C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: Y141C

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
WNT1 40 349 1.57e-213 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family, which 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 involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have skeletal abnormalities including absence of digits, especially of the forelimb, and sometimes absence of the ulna. Occasionally, there is an extra set of ribs. Both sexes are sterile due to abnormalities of the Mullerian duct. [provided by MGI curators]
Allele List at MGI

Wnt7apx-r, Wnt7apx, Wnt7atm1Amc (Allele List at MGI)
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Fam102b A G 3: 108,980,292 Y219H probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in Wnt7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Wnt7a APN 6 91365991 missense probably damaging 0.99
IGL01085:Wnt7a APN 6 91408789 missense probably benign 0.05
IGL01784:Wnt7a APN 6 91365857 missense probably damaging 1.00
IGL01941:Wnt7a APN 6 91394663 missense probably benign 0.05
gimpy UTSW 6 91365884 missense probably damaging 1.00
R1932:Wnt7a UTSW 6 91394548 missense probably benign 0.06
R1993:Wnt7a UTSW 6 91365956 missense possibly damaging 0.74
R1994:Wnt7a UTSW 6 91365956 missense possibly damaging 0.74
R2291:Wnt7a UTSW 6 91394486 missense probably benign 0.04
R4587:Wnt7a UTSW 6 91366342 splice site probably null
R5059:Wnt7a UTSW 6 91394500 missense probably benign 0.07
R5632:Wnt7a UTSW 6 91394655 nonsense probably null
R5712:Wnt7a UTSW 6 91366204 missense probably damaging 1.00
R6636:Wnt7a UTSW 6 91394558 missense probably benign 0.01
R7480:Wnt7a UTSW 6 91394413 missense probably benign 0.39
R8386:Wnt7a UTSW 6 91366288 missense probably damaging 1.00
R9485:Wnt7a UTSW 6 91366315 missense probably benign 0.25
RF015:Wnt7a UTSW 6 91394423 missense possibly damaging 0.81
Posted On 2015-04-16