Incidental Mutation 'R5712:Wnt7a'
ID 450944
Institutional Source Beutler Lab
Gene Symbol Wnt7a
Ensembl Gene ENSMUSG00000030093
Gene Name wingless-type MMTV integration site family, member 7A
Synonyms tw, Wnt-7a
MMRRC Submission 043334-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.661) question?
Stock # R5712 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 91340963-91388335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91343186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 232 (Y232C)
Ref Sequence ENSEMBL: ENSMUSP00000032180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032180]
AlphaFold P24383
Predicted Effect probably damaging
Transcript: ENSMUST00000032180
AA Change: Y232C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: Y232C

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
WNT1 40 349 1.57e-213 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133092
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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
1700018F24Rik A G 5: 144,981,563 (GRCm39) T133A probably benign Het
Adcy8 C T 15: 64,626,715 (GRCm39) E708K probably damaging Het
Alkbh1 A G 12: 87,475,883 (GRCm39) C300R probably benign Het
Arhgap11a T C 2: 113,675,646 (GRCm39) N52D probably benign Het
Ash1l T A 3: 88,959,297 (GRCm39) S2225T probably damaging Het
Aspn A T 13: 49,716,995 (GRCm39) Y257F probably damaging Het
Atp2b4 A C 1: 133,658,278 (GRCm39) V544G probably damaging Het
Bclaf1 T G 10: 20,209,277 (GRCm39) Y498D probably damaging Het
Cacna1d A G 14: 29,796,954 (GRCm39) I1520T probably damaging Het
Castor1 T C 11: 4,168,378 (GRCm39) L22P probably damaging Het
Cfap57 G T 4: 118,471,992 (GRCm39) P129Q probably damaging Het
Clcn3 A G 8: 61,390,332 (GRCm39) probably null Het
Epx A T 11: 87,765,679 (GRCm39) Y93* probably null Het
Erich6b T A 14: 75,896,340 (GRCm39) D75E possibly damaging Het
Exoc3l4 T A 12: 111,390,476 (GRCm39) Y350* probably null Het
Fam13a T A 6: 58,933,684 (GRCm39) D302V probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fga C T 3: 82,940,440 (GRCm39) T698I possibly damaging Het
Fsip2 T C 2: 82,839,192 (GRCm39) S6987P possibly damaging Het
Gbp9 T A 5: 105,242,421 (GRCm39) N106I possibly damaging Het
Gls T A 1: 52,235,911 (GRCm39) K401N probably damaging Het
Gpatch2l A G 12: 86,291,254 (GRCm39) K146E probably damaging Het
Gpr3 A G 4: 132,937,719 (GRCm39) S318P probably benign Het
Kbtbd7 T C 14: 79,666,205 (GRCm39) V679A possibly damaging Het
Kcnu1 T A 8: 26,409,678 (GRCm39) L127H probably damaging Het
Lck G T 4: 129,450,103 (GRCm39) H214Q probably benign Het
Lrch4 A C 5: 137,636,188 (GRCm39) S380R possibly damaging Het
Lrrk2 A T 15: 91,586,425 (GRCm39) K414* probably null Het
Maco1 A T 4: 134,555,369 (GRCm39) M368K probably benign Het
Med11 A G 11: 70,344,058 (GRCm39) E126G probably damaging Het
Mknk1 A G 4: 115,712,203 (GRCm39) probably null Het
Mst1 T C 9: 107,960,107 (GRCm39) C355R probably damaging Het
Mtcl2 T A 2: 156,872,841 (GRCm39) E890V probably damaging Het
Myl10 T C 5: 136,723,092 (GRCm39) F14L probably damaging Het
Nfrkb C T 9: 31,325,932 (GRCm39) T1125M probably benign Het
Nin T C 12: 70,089,543 (GRCm39) T1291A probably damaging Het
Pcnt T C 10: 76,265,105 (GRCm39) Q335R probably damaging Het
Phc2 A G 4: 128,638,888 (GRCm39) T83A probably damaging Het
Rdh19 T A 10: 127,692,756 (GRCm39) M141K probably benign Het
Rnf17 G A 14: 56,708,856 (GRCm39) V759I probably benign Het
Sirt7 A T 11: 120,511,677 (GRCm39) Y18* probably null Het
Slc27a5 T C 7: 12,732,010 (GRCm39) probably benign Het
Synpo2 T A 3: 122,914,859 (GRCm39) I56F probably damaging Het
Tdrd6 C A 17: 43,937,299 (GRCm39) G1250C probably damaging Het
Tmem190 G A 7: 4,787,288 (GRCm39) G164D probably damaging Het
Tmigd1 T C 11: 76,797,858 (GRCm39) Y67H probably damaging Het
Trim3 T A 7: 105,268,743 (GRCm39) E70D probably damaging Het
Uap1 A G 1: 169,994,414 (GRCm39) F21L possibly damaging Het
Vmn1r176 A T 7: 23,534,925 (GRCm39) V76D probably benign Het
Vps13d A C 4: 144,813,743 (GRCm39) S3245A probably benign Het
Zan A G 5: 137,398,360 (GRCm39) V4224A unknown 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
IGL01941:Wnt7a APN 6 91,371,645 (GRCm39) missense probably benign 0.05
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
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
Predicted Primers PCR Primer
(F):5'- CACAGCACATGAGGTCACAG -3'
(R):5'- GAGCTACGGTGACAATTTCTG -3'

Sequencing Primer
(F):5'- ACATGAGGTCACAGCCACTGG -3'
(R):5'- ACGGTGACAATTTCTGTGCCTTTC -3'
Posted On 2017-01-03