Incidental Mutation 'IGL01533:Vangl1'
ID 89850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vangl1
Ensembl Gene ENSMUSG00000027860
Gene Name VANGL planar cell polarity 1
Synonyms stbm, KITENIN, Lpp2, mStbm
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # IGL01533
Quality Score
Status
Chromosome 3
Chromosomal Location 102060899-102112009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102070667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 423 (E423G)
Ref Sequence ENSEMBL: ENSMUSP00000029453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029453] [ENSMUST00000159388] [ENSMUST00000168312]
AlphaFold Q80Z96
Predicted Effect possibly damaging
Transcript: ENSMUST00000029453
AA Change: E423G

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000029453
Gene: ENSMUSG00000027860
AA Change: E423G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 23 360 3.4e-171 PFAM
Predicted Effect silent
Transcript: ENSMUST00000159388
SMART Domains Protein: ENSMUSP00000125043
Gene: ENSMUSG00000027860

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 25 526 8.6e-262 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160226
Predicted Effect unknown
Transcript: ENSMUST00000161021
AA Change: E149G
SMART Domains Protein: ENSMUSP00000125484
Gene: ENSMUSG00000027860
AA Change: E149G

DomainStartEndE-ValueType
Pfam:Strabismus 1 253 3.2e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162361
Predicted Effect possibly damaging
Transcript: ENSMUST00000168312
AA Change: E373G

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126254
Gene: ENSMUSG00000027860
AA Change: E373G

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 23 357 1.2e-170 PFAM
Pfam:Strabismus 354 476 9.5e-67 PFAM
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 encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele display abnormal orientation of cochlear hair cell stereociliary bundles but do not develop neural tube or cardiac outflow tract abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C A 18: 67,538,488 (GRCm39) E757* probably null Het
Arhgap15 T C 2: 44,133,165 (GRCm39) V357A probably damaging Het
Asb13 T C 13: 3,692,164 (GRCm39) V48A probably benign Het
Bbs7 T C 3: 36,664,384 (GRCm39) R74G possibly damaging Het
Capn11 T C 17: 45,943,830 (GRCm39) H568R probably benign Het
Cbx5 T C 15: 103,114,061 (GRCm39) E61G probably damaging Het
Ccdc158 T C 5: 92,757,815 (GRCm39) probably null Het
Col14a1 C A 15: 55,284,236 (GRCm39) N832K unknown Het
Cyp2a4 A T 7: 26,007,969 (GRCm39) K125N probably damaging Het
Dhx16 T C 17: 36,192,939 (GRCm39) L215P probably damaging Het
Dtx4 T C 19: 12,455,579 (GRCm39) M480V possibly damaging Het
Edaradd A G 13: 12,493,463 (GRCm39) probably benign Het
Galnt13 T A 2: 54,770,144 (GRCm39) M312K probably damaging Het
Gcdh T A 8: 85,615,991 (GRCm39) R337W probably damaging Het
Gm28557 A T 13: 67,219,396 (GRCm39) C109* probably null Het
Gpr22 C T 12: 31,758,709 (GRCm39) probably benign Het
Gria4 T G 9: 4,502,395 (GRCm39) L379F probably damaging Het
Gxylt2 T C 6: 100,760,098 (GRCm39) L211P probably damaging Het
Igsf10 T A 3: 59,226,651 (GRCm39) I2341F probably damaging Het
Macf1 T C 4: 123,367,666 (GRCm39) D2365G probably damaging Het
Morc2b A G 17: 33,354,695 (GRCm39) probably benign Het
Ncoa3 T C 2: 165,896,945 (GRCm39) S579P probably benign Het
Nlgn1 T C 3: 25,490,527 (GRCm39) N400S possibly damaging Het
Or5w17 C A 2: 87,583,412 (GRCm39) R308S probably benign Het
Or8g17 C T 9: 38,930,097 (GRCm39) A247T probably damaging Het
Pi4ka A G 16: 17,126,065 (GRCm39) S1102P probably benign Het
Polr1e A G 4: 45,019,328 (GRCm39) Y59C probably damaging Het
Prex2 C T 1: 11,256,965 (GRCm39) Q1226* probably null Het
Rab12 A T 17: 66,804,430 (GRCm39) I176K probably damaging Het
Ryr2 A T 13: 11,736,676 (GRCm39) N2250K probably damaging Het
Sbf1 T C 15: 89,172,919 (GRCm39) T1865A probably damaging Het
Sema6b G A 17: 56,436,499 (GRCm39) probably benign Het
Smarcb1 C T 10: 75,752,602 (GRCm39) probably null Het
Sos1 A G 17: 80,722,511 (GRCm39) L845S probably damaging Het
Stat4 T A 1: 52,137,578 (GRCm39) N456K probably damaging Het
Tex264 A G 9: 106,550,798 (GRCm39) I133T probably benign Het
Thoc1 T C 18: 9,962,376 (GRCm39) V87A probably benign Het
Tmem131 C T 1: 36,857,803 (GRCm39) D778N probably damaging Het
Tspan14 A G 14: 40,638,776 (GRCm39) I88T probably benign Het
Ttn C A 2: 76,562,918 (GRCm39) V28679L possibly damaging Het
Ttn A G 2: 76,782,285 (GRCm39) S984P probably damaging Het
Other mutations in Vangl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Vangl1 APN 3 102,065,545 (GRCm39) utr 3 prime probably benign
IGL00870:Vangl1 APN 3 102,096,756 (GRCm39) missense probably damaging 1.00
IGL01981:Vangl1 APN 3 102,091,607 (GRCm39) missense probably damaging 1.00
IGL02792:Vangl1 APN 3 102,070,739 (GRCm39) missense probably damaging 0.98
IGL02800:Vangl1 APN 3 102,070,611 (GRCm39) splice site probably benign
IGL02942:Vangl1 APN 3 102,091,347 (GRCm39) missense probably damaging 1.00
IGL03029:Vangl1 APN 3 102,091,400 (GRCm39) missense probably damaging 1.00
R0600:Vangl1 UTSW 3 102,074,253 (GRCm39) missense probably damaging 1.00
R0904:Vangl1 UTSW 3 102,091,310 (GRCm39) missense probably damaging 0.99
R1230:Vangl1 UTSW 3 102,065,609 (GRCm39) missense probably benign 0.00
R1829:Vangl1 UTSW 3 102,070,782 (GRCm39) missense probably benign
R2005:Vangl1 UTSW 3 102,070,782 (GRCm39) missense probably benign
R2268:Vangl1 UTSW 3 102,104,160 (GRCm39) missense probably damaging 1.00
R4181:Vangl1 UTSW 3 102,073,097 (GRCm39) intron probably benign
R4662:Vangl1 UTSW 3 102,074,238 (GRCm39) missense probably benign 0.00
R4724:Vangl1 UTSW 3 102,091,870 (GRCm39) missense probably damaging 1.00
R4755:Vangl1 UTSW 3 102,065,608 (GRCm39) missense probably benign 0.19
R5548:Vangl1 UTSW 3 102,091,762 (GRCm39) missense possibly damaging 0.76
R5740:Vangl1 UTSW 3 102,091,450 (GRCm39) missense probably damaging 0.99
R5758:Vangl1 UTSW 3 102,091,408 (GRCm39) missense probably damaging 1.00
R6150:Vangl1 UTSW 3 102,091,835 (GRCm39) missense probably damaging 1.00
R6373:Vangl1 UTSW 3 102,065,764 (GRCm39) missense probably benign
R6943:Vangl1 UTSW 3 102,073,097 (GRCm39) intron probably benign
R7474:Vangl1 UTSW 3 102,091,565 (GRCm39) missense probably benign 0.22
R7616:Vangl1 UTSW 3 102,091,381 (GRCm39) missense probably damaging 1.00
R8120:Vangl1 UTSW 3 102,070,758 (GRCm39) nonsense probably null
R8827:Vangl1 UTSW 3 102,070,736 (GRCm39) missense probably damaging 0.99
R8859:Vangl1 UTSW 3 102,065,758 (GRCm39) missense
R9494:Vangl1 UTSW 3 102,070,665 (GRCm39) missense probably damaging 0.98
R9745:Vangl1 UTSW 3 102,072,669 (GRCm39) critical splice donor site probably null
Posted On 2013-12-03