Incidental Mutation 'R9745:Vangl1'
ID 732021
Institutional Source Beutler Lab
Gene Symbol Vangl1
Ensembl Gene ENSMUSG00000027860
Gene Name VANGL planar cell polarity 1
Synonyms stbm, KITENIN, Lpp2, mStbm
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.304) question?
Stock # R9745 (G1)
Quality Score 188.009
Status Not validated
Chromosome 3
Chromosomal Location 102060899-102112009 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 102072669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029453] [ENSMUST00000159388] [ENSMUST00000168312]
AlphaFold Q80Z96
Predicted Effect probably null
Transcript: ENSMUST00000029453
SMART Domains Protein: ENSMUSP00000029453
Gene: ENSMUSG00000027860

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

low complexity region 5 21 N/A INTRINSIC
Pfam:Strabismus 25 526 8.6e-262 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161021
SMART Domains Protein: ENSMUSP00000125484
Gene: ENSMUSG00000027860

Pfam:Strabismus 1 253 3.2e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168312
SMART Domains Protein: ENSMUSP00000126254
Gene: ENSMUSG00000027860

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
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 99.1%
  • 20x: 97.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 T A 10: 126,919,380 (GRCm39) H488Q unknown Het
Ces1b T C 8: 93,790,625 (GRCm39) D388G probably benign Het
Ces1f T C 8: 93,989,740 (GRCm39) D392G probably benign Het
Ces5a A G 8: 94,228,814 (GRCm39) V472A probably damaging Het
Chst1 A G 2: 92,444,047 (GRCm39) D173G possibly damaging Het
Cngb1 T G 8: 95,967,919 (GRCm39) E1294A unknown Het
Cnmd T C 14: 79,887,850 (GRCm39) I124V possibly damaging Het
Cntnap2 A T 6: 46,211,100 (GRCm39) M505L probably benign Het
Cntnap4 T A 8: 113,391,808 (GRCm39) M91K possibly damaging Het
Cstad A G 2: 30,498,197 (GRCm39) T11A unknown Het
Cyp2j6 A T 4: 96,441,621 (GRCm39) V23E possibly damaging Het
Dapk3 C A 10: 81,028,594 (GRCm39) T388K unknown Het
Dennd6a G A 14: 26,320,818 (GRCm39) G120R possibly damaging Het
Disp1 A C 1: 182,869,310 (GRCm39) S1037A probably damaging Het
Dpcd A T 19: 45,560,881 (GRCm39) Q103L probably benign Het
Egfem1 A T 3: 29,716,532 (GRCm39) D334V probably damaging Het
Egflam C T 15: 7,333,419 (GRCm39) V178M probably benign Het
Ehbp1 T C 11: 22,096,692 (GRCm39) T291A probably benign Het
Eif5b G T 1: 38,084,729 (GRCm39) V859F probably damaging Het
Fam161a A T 11: 22,973,495 (GRCm39) Q459L possibly damaging Het
Fcgrt A C 7: 44,742,754 (GRCm39) D342E probably damaging Het
Fchsd1 A C 18: 38,102,425 (GRCm39) D34E probably benign Het
Foxo4 G A X: 100,301,955 (GRCm39) S209N probably benign Het
Galt A T 4: 41,758,185 (GRCm39) M317L possibly damaging Het
Gfm1 A G 3: 67,358,657 (GRCm39) D416G possibly damaging Het
Glcci1 A T 6: 8,573,278 (GRCm39) I256L probably benign Het
Ibtk C T 9: 85,613,280 (GRCm39) G228S probably benign Het
Ift70b T C 2: 75,768,261 (GRCm39) Y164C probably benign Het
Il2rb T A 15: 78,372,399 (GRCm39) D106V probably benign Het
Map3k6 A T 4: 132,979,783 (GRCm39) I1261F probably damaging Het
Mast2 A G 4: 116,167,815 (GRCm39) L1014P probably benign Het
Mcm2 G A 6: 88,868,729 (GRCm39) Q343* probably null Het
Megf8 A G 7: 25,058,133 (GRCm39) T2136A possibly damaging Het
Mmp28 G A 11: 83,342,283 (GRCm39) T103I probably benign Het
Mtif2 G A 11: 29,476,587 (GRCm39) probably benign Het
Mtus2 A T 5: 148,013,311 (GRCm39) T35S possibly damaging Het
Ncoa2 A T 1: 13,245,192 (GRCm39) I502N probably benign Het
Nek5 A C 8: 22,573,479 (GRCm39) D492E probably benign Het
Nin T C 12: 70,089,899 (GRCm39) E1172G Het
Nsmaf T A 4: 6,416,662 (GRCm39) I544F possibly damaging Het
Oas3 T C 5: 120,899,284 (GRCm39) D763G unknown Het
Or2a20 G A 6: 43,194,258 (GRCm39) W137* probably null Het
Or4s2 T A 2: 88,473,310 (GRCm39) F66L probably benign Het
Or51r1 A T 7: 102,227,861 (GRCm39) D53V probably damaging Het
Or5al6 C T 2: 85,976,251 (GRCm39) V276M probably damaging Het
Or5aq1 T A 2: 86,965,783 (GRCm39) N294I probably damaging Het
Or5k15 A T 16: 58,710,265 (GRCm39) L106Q probably damaging Het
Or5t17 T C 2: 86,832,487 (GRCm39) V58A probably benign Het
Pcdh7 T C 5: 57,879,622 (GRCm39) probably null Het
Pitx3 A G 19: 46,124,660 (GRCm39) S236P possibly damaging Het
Plscr5 T A 9: 92,087,502 (GRCm39) I157N probably damaging Het
Potefam1 T C 2: 111,000,008 (GRCm39) M201V unknown Het
Preb T C 5: 31,116,732 (GRCm39) N54D probably benign Het
Pskh1 C T 8: 106,656,404 (GRCm39) A360V possibly damaging Het
Ptprk T C 10: 28,139,608 (GRCm39) L111S possibly damaging Het
Reln T A 5: 22,152,525 (GRCm39) I2314F probably damaging Het
Siglecg A G 7: 43,067,476 (GRCm39) D681G probably damaging Het
Snx5 A G 2: 144,096,716 (GRCm39) V283A probably benign Het
Srpk2 C A 5: 23,880,874 (GRCm39) probably benign Het
Tacr1 T C 6: 82,469,619 (GRCm39) Y168H possibly damaging Het
Tal1 G T 4: 114,920,557 (GRCm39) R77L probably benign Het
Tdrd12 T C 7: 35,185,964 (GRCm39) probably null Het
Tdrd7 A T 4: 45,994,310 (GRCm39) N236I possibly damaging Het
Tdrd9 T C 12: 112,009,130 (GRCm39) F1012S probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tert T A 13: 73,784,609 (GRCm39) L685Q probably damaging Het
Th T G 7: 142,448,851 (GRCm39) D342A probably damaging Het
Tpsg1 G T 17: 25,591,492 (GRCm39) V31L probably damaging Het
Traf3ip1 C G 1: 91,439,095 (GRCm39) S337* probably null Het
Trpv6 A G 6: 41,600,003 (GRCm39) F551S probably damaging Het
Urah A G 7: 140,415,531 (GRCm39) N23D probably benign Het
Zc3h6 A G 2: 128,859,155 (GRCm39) E1062G probably benign Het
Zfp37 A T 4: 62,110,644 (GRCm39) V181E possibly damaging Het
Zfp638 T A 6: 83,921,795 (GRCm39) S641T probably benign Het
Zkscan16 A T 4: 58,957,473 (GRCm39) H585L possibly 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
IGL01533:Vangl1 APN 3 102,070,667 (GRCm39) missense possibly damaging 0.88
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-11-14