Incidental Mutation 'IGL01085:Wnt7a'
ID 51274
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 # IGL01085
Quality Score
Status
Chromosome 6
Chromosomal Location 91340963-91388335 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 91385771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 61 (V61I)
Ref Sequence ENSEMBL: ENSMUSP00000032180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032180]
AlphaFold P24383
Predicted Effect probably benign
Transcript: ENSMUST00000032180
AA Change: V61I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000032180
Gene: ENSMUSG00000030093
AA Change: V61I

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
WNT1 40 349 1.57e-213 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206086
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,944,763 (GRCm39) probably benign Het
Acp7 T C 7: 28,310,478 (GRCm39) Y453C probably damaging Het
Bop1 T C 15: 76,337,576 (GRCm39) D683G probably damaging Het
Cacna1b G T 2: 24,569,006 (GRCm39) R974S probably damaging Het
Ceacam23 A T 7: 17,649,616 (GRCm39) H729L possibly damaging Het
Cenpt T C 8: 106,573,297 (GRCm39) E350G possibly damaging Het
Cep112 G T 11: 108,377,432 (GRCm39) R270L probably damaging Het
Crem T C 18: 3,299,236 (GRCm39) T26A probably damaging Het
Crot T C 5: 9,023,955 (GRCm39) H387R probably damaging Het
Fdxr A T 11: 115,160,402 (GRCm39) V351E probably benign Het
Fkbpl T C 17: 34,864,718 (GRCm39) L162P probably damaging Het
Fmn2 T A 1: 174,523,220 (GRCm39) N1358K probably damaging Het
Hectd4 G T 5: 121,469,764 (GRCm39) G2553V probably damaging Het
Ifna16 A T 4: 88,594,969 (GRCm39) I42K probably benign Het
Igfals C T 17: 25,100,634 (GRCm39) T575I probably benign Het
Il6 G T 5: 30,218,487 (GRCm39) V28F probably damaging Het
Irx1 A G 13: 72,107,816 (GRCm39) S289P probably benign Het
Ncoa2 T C 1: 13,219,303 (GRCm39) T1245A possibly damaging Het
Nr3c2 G T 8: 77,634,983 (GRCm39) R28L probably benign Het
Nudt5 G A 2: 5,869,238 (GRCm39) V155I probably benign Het
Or9s13 G T 1: 92,547,921 (GRCm39) V98F possibly damaging Het
Pcm1 T C 8: 41,762,640 (GRCm39) S1395P probably damaging Het
Pkhd1l1 G A 15: 44,426,148 (GRCm39) probably null Het
Prodh A T 16: 17,894,208 (GRCm39) V339E probably damaging Het
Rbm48 C T 5: 3,634,762 (GRCm39) V401M probably benign Het
Retreg3 G A 11: 100,991,751 (GRCm39) Q61* probably null Het
Rif1 A G 2: 51,975,152 (GRCm39) M354V possibly damaging Het
Rrn3 G A 16: 13,626,926 (GRCm39) V507M probably damaging Het
Safb2 T A 17: 56,872,242 (GRCm39) R197* probably null Het
Slc22a26 A G 19: 7,767,464 (GRCm39) V314A probably benign Het
Slfnl1 G T 4: 120,390,553 (GRCm39) R68L probably damaging Het
Spata1 G T 3: 146,181,997 (GRCm39) Q10K possibly damaging Het
Swi5 T C 2: 32,170,739 (GRCm39) M95V possibly damaging Het
Thpo T C 16: 20,547,205 (GRCm39) D52G probably damaging Het
Tmem101 A T 11: 102,045,486 (GRCm39) L121Q probably damaging Het
Trim40 T C 17: 37,194,133 (GRCm39) I187V probably benign Het
Usp33 A G 3: 152,074,206 (GRCm39) K351E possibly damaging Het
Uvrag T C 7: 98,767,431 (GRCm39) T67A probably damaging Het
Vcan T C 13: 89,828,077 (GRCm39) D2163G probably damaging Het
Zfp804b A G 5: 6,820,931 (GRCm39) S675P probably damaging Het
Other mutations in Wnt7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Wnt7a APN 6 91,342,973 (GRCm39) missense probably damaging 0.99
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
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 2013-06-21