Incidental Mutation 'IGL01941:Wnt7a'
ID 181168
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: 0.689) question?
Stock # IGL01941
Quality Score
Status
Chromosome 6
Chromosomal Location 91340963-91388335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91371645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 106 (F106L)
Ref Sequence ENSEMBL: ENSMUSP00000032180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032180]
AlphaFold P24383
Predicted Effect probably benign
Transcript: ENSMUST00000032180
AA Change: F106L

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: F106L

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,094,802 (GRCm39) L123Q probably benign Het
Abca2 C T 2: 25,333,107 (GRCm39) S1602F probably benign Het
Abcc9 C A 6: 142,551,630 (GRCm39) C1191F probably damaging Het
Adam3 G T 8: 25,171,462 (GRCm39) probably benign Het
Aldh1l1 G T 6: 90,539,677 (GRCm39) G202V probably damaging Het
Ankrd46 T C 15: 36,486,083 (GRCm39) N57D possibly damaging Het
Asic1 A T 15: 99,596,982 (GRCm39) H548L possibly damaging Het
Atpaf2 A G 11: 60,294,724 (GRCm39) I233T probably benign Het
Ccdc185 G T 1: 182,575,769 (GRCm39) Q307K probably benign Het
Cep120 T C 18: 53,856,220 (GRCm39) D399G probably benign Het
Cnn2 G A 10: 79,828,388 (GRCm39) V122M probably benign Het
Dgkd T C 1: 87,852,281 (GRCm39) S472P probably damaging Het
Dock5 A C 14: 68,049,681 (GRCm39) I701S probably damaging Het
Efl1 A G 7: 82,347,184 (GRCm39) E570G probably benign Het
Eln G A 5: 134,747,024 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,831 (GRCm39) V81A probably benign Het
Fbxw21 T G 9: 108,977,224 (GRCm39) I162L probably benign Het
Fhl2 G A 1: 43,170,832 (GRCm39) Q161* probably null Het
Gabrg2 A G 11: 41,862,548 (GRCm39) Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grik5 A T 7: 24,764,607 (GRCm39) I152N probably damaging Het
H2-Ab1 A T 17: 34,486,408 (GRCm39) K156* probably null Het
Hecw1 T C 13: 14,490,895 (GRCm39) Y699C probably benign Het
Ipo9 A C 1: 135,335,811 (GRCm39) V202G possibly damaging Het
Itprid1 A G 6: 55,945,030 (GRCm39) R584G probably benign Het
Jmjd6 A T 11: 116,732,184 (GRCm39) probably null Het
Lama5 A G 2: 179,834,185 (GRCm39) I1416T possibly damaging Het
Matn1 T C 4: 130,679,572 (GRCm39) probably benign Het
Mavs T C 2: 131,088,525 (GRCm39) V443A probably damaging Het
Mpdz A T 4: 81,204,624 (GRCm39) S1798R possibly damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Or4a78 A T 2: 89,497,812 (GRCm39) C139* probably null Het
Otud7b G T 3: 96,062,776 (GRCm39) G672C probably benign Het
Palld T A 8: 61,988,734 (GRCm39) T572S probably benign Het
Pde6b T A 5: 108,570,902 (GRCm39) V379E probably benign Het
Peak1 A G 9: 56,166,059 (GRCm39) V623A probably damaging Het
Prr12 C T 7: 44,698,083 (GRCm39) probably benign Het
Rxra T C 2: 27,644,253 (GRCm39) I315T probably damaging Het
Slc11a1 C T 1: 74,416,338 (GRCm39) A55V probably damaging Het
Slitrk3 T C 3: 72,958,404 (GRCm39) N123D possibly damaging Het
Smr2l A G 5: 88,430,301 (GRCm39) S66G probably benign Het
Spcs1 A G 14: 30,722,829 (GRCm39) M82T probably damaging Het
Sspo A G 6: 48,472,116 (GRCm39) E113G probably benign Het
Syne2 A G 12: 76,013,994 (GRCm39) K3062E probably benign Het
Traf3ip2 T C 10: 39,510,656 (GRCm39) S310P probably benign Het
Ubp1 T C 9: 113,785,826 (GRCm39) L167S probably damaging Het
Vmn1r196 T A 13: 22,477,869 (GRCm39) C169* probably null Het
Vmn1r223 T A 13: 23,434,407 (GRCm39) F334I possibly damaging Het
Vmn2r10 A T 5: 109,143,820 (GRCm39) I710N probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr26 A G 1: 181,038,635 (GRCm39) probably benign Het
Zfp940 C T 7: 29,546,295 (GRCm39) V34M probably damaging Het
Other mutations in Wnt7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Wnt7a APN 6 91,342,973 (GRCm39) missense probably damaging 0.99
IGL01085:Wnt7a APN 6 91,385,771 (GRCm39) missense probably benign 0.05
IGL01784:Wnt7a APN 6 91,342,839 (GRCm39) missense probably damaging 1.00
IGL02415:Wnt7a APN 6 91,371,539 (GRCm39) missense probably damaging 0.99
gimpy UTSW 6 91,342,866 (GRCm39) missense probably damaging 1.00
R1932:Wnt7a UTSW 6 91,371,530 (GRCm39) missense probably benign 0.06
R1993:Wnt7a UTSW 6 91,342,938 (GRCm39) missense possibly damaging 0.74
R1994:Wnt7a UTSW 6 91,342,938 (GRCm39) missense possibly damaging 0.74
R2291:Wnt7a UTSW 6 91,371,468 (GRCm39) missense probably benign 0.04
R4587:Wnt7a UTSW 6 91,343,324 (GRCm39) splice site probably null
R5059:Wnt7a UTSW 6 91,371,482 (GRCm39) missense probably benign 0.07
R5632:Wnt7a UTSW 6 91,371,637 (GRCm39) nonsense probably null
R5712:Wnt7a UTSW 6 91,343,186 (GRCm39) missense probably damaging 1.00
R6636:Wnt7a UTSW 6 91,371,540 (GRCm39) missense probably benign 0.01
R7480:Wnt7a UTSW 6 91,371,395 (GRCm39) missense probably benign 0.39
R8386:Wnt7a UTSW 6 91,343,270 (GRCm39) missense probably damaging 1.00
R9485:Wnt7a UTSW 6 91,343,297 (GRCm39) missense probably benign 0.25
RF015:Wnt7a UTSW 6 91,371,405 (GRCm39) missense possibly damaging 0.81
Posted On 2014-05-07