Incidental Mutation 'IGL01568:Vax2'
ID 91068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vax2
Ensembl Gene ENSMUSG00000034777
Gene Name ventral anterior homeobox 2
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.806) question?
Stock # IGL01568
Quality Score
Status
Chromosome 6
Chromosomal Location 83688246-83715295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 83688519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 81 (V81L)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
AlphaFold Q9WTP9
Predicted Effect possibly damaging
Transcript: ENSMUST00000037807
AA Change: V81L

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: V81L

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
HOX 102 164 3.54e-27 SMART
low complexity region 169 180 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 233 247 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184408
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 homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null mutants for one allele show incomplete closure of optic fissure leading to coloboma, the frequency of which is strongly influenced by genetic background. Homozygous null mutants for 2 different alleles have abnormal projections of ventralretinal ganglion cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,258,270 (GRCm39) L298* probably null Het
Capn15 G T 17: 26,184,419 (GRCm39) R21S probably damaging Het
Cbs A G 17: 31,840,488 (GRCm39) L290P possibly damaging Het
Dnah5 T C 15: 28,229,798 (GRCm39) I144T probably benign Het
Dok4 T A 8: 95,593,430 (GRCm39) I119F probably benign Het
Dpp9 T C 17: 56,498,159 (GRCm39) N599S probably benign Het
Ep400 T C 5: 110,867,361 (GRCm39) T984A unknown Het
Fcrl2 T C 3: 87,163,986 (GRCm39) N381S probably damaging Het
Fhod3 A G 18: 25,253,219 (GRCm39) I1390V probably benign Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gimap9 A G 6: 48,654,550 (GRCm39) T46A probably benign Het
Gm3696 T C 14: 18,435,020 (GRCm39) N88S probably benign Het
Gm5277 A G 3: 78,799,743 (GRCm39) noncoding transcript Het
Gpr153 C A 4: 152,366,825 (GRCm39) probably null Het
Hgf A T 5: 16,769,812 (GRCm39) K95N probably damaging Het
Igf2r A G 17: 12,902,872 (GRCm39) S2393P possibly damaging Het
Ikbke C A 1: 131,185,633 (GRCm39) probably null Het
Il17re G T 6: 113,447,013 (GRCm39) R588L probably damaging Het
Itch T C 2: 155,054,382 (GRCm39) probably benign Het
Krt1c T A 15: 101,721,646 (GRCm39) D465V probably damaging Het
Krt28 G T 11: 99,262,243 (GRCm39) P249Q probably damaging Het
Lax1 A T 1: 133,608,038 (GRCm39) D234E probably benign Het
Mtmr3 A G 11: 4,477,861 (GRCm39) I61T probably damaging Het
Naip5 G T 13: 100,353,609 (GRCm39) Q1217K probably benign Het
Nt5dc3 A G 10: 86,669,802 (GRCm39) T466A probably benign Het
Or5bw2 A T 7: 6,573,569 (GRCm39) H193L possibly damaging Het
Or8s2 T C 15: 98,276,787 (GRCm39) D68G probably damaging Het
Pcdhb3 T C 18: 37,435,054 (GRCm39) V340A possibly damaging Het
Pclo C T 5: 14,728,443 (GRCm39) probably benign Het
Piezo2 C T 18: 63,163,463 (GRCm39) V2152I probably benign Het
Pip4k2b A T 11: 97,620,378 (GRCm39) probably null Het
Ptprs G A 17: 56,720,958 (GRCm39) H1432Y probably damaging Het
Rars1 A G 11: 35,716,808 (GRCm39) probably benign Het
Scrn1 A G 6: 54,499,739 (GRCm39) probably benign Het
Sdr42e1 T C 8: 118,390,182 (GRCm39) Y153C probably damaging Het
Slc18a1 A T 8: 69,518,278 (GRCm39) S245R probably damaging Het
Spmip4 A G 6: 50,550,678 (GRCm39) probably benign Het
Tns1 T G 1: 73,992,668 (GRCm39) D670A probably damaging Het
Trim16 T A 11: 62,711,684 (GRCm39) D118E probably benign Het
Trpv1 A G 11: 73,129,269 (GRCm39) D62G probably benign Het
Tyr A G 7: 87,087,156 (GRCm39) L452P probably damaging Het
Ubr4 T C 4: 139,148,684 (GRCm39) C1723R probably damaging Het
Uqcrb G A 13: 67,049,459 (GRCm39) probably benign Het
Zan A G 5: 137,463,106 (GRCm39) V691A unknown Het
Zfp335 A G 2: 164,736,708 (GRCm39) S976P possibly damaging Het
Zfp384 C T 6: 125,001,095 (GRCm39) P56S probably damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02161:Vax2 APN 6 83,714,885 (GRCm39) missense probably damaging 1.00
IGL02584:Vax2 APN 6 83,688,495 (GRCm39) missense probably benign
R0316:Vax2 UTSW 6 83,688,426 (GRCm39) missense possibly damaging 0.79
R0456:Vax2 UTSW 6 83,688,388 (GRCm39) missense probably benign 0.00
R1006:Vax2 UTSW 6 83,714,759 (GRCm39) missense probably damaging 1.00
R2045:Vax2 UTSW 6 83,688,252 (GRCm39) start gained probably benign
R2217:Vax2 UTSW 6 83,714,871 (GRCm39) missense probably damaging 0.98
R2324:Vax2 UTSW 6 83,688,307 (GRCm39) missense possibly damaging 0.53
R3979:Vax2 UTSW 6 83,714,529 (GRCm39) missense probably damaging 0.98
R4755:Vax2 UTSW 6 83,688,379 (GRCm39) missense probably damaging 0.99
R7203:Vax2 UTSW 6 83,714,882 (GRCm39) missense probably damaging 0.99
R7242:Vax2 UTSW 6 83,688,298 (GRCm39) missense possibly damaging 0.72
Posted On 2013-12-09