Incidental Mutation 'IGL02584:Vax2'
ID 299483
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: 0.871) question?
Stock # IGL02584
Quality Score
Status
Chromosome 6
Chromosomal Location 83688246-83715295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83688495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 73 (T73A)
Ref Sequence ENSEMBL: ENSMUSP00000035976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037807]
AlphaFold Q9WTP9
Predicted Effect probably benign
Transcript: ENSMUST00000037807
AA Change: T73A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777
AA Change: T73A

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,744 (GRCm39) Y22F unknown Het
Adgrb3 A G 1: 25,544,065 (GRCm39) L312P probably damaging Het
Anpep T C 7: 79,475,141 (GRCm39) probably benign Het
Arhgef6 T G X: 56,291,738 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,884,146 (GRCm39) D989G probably damaging Het
Ccnj T A 19: 40,833,185 (GRCm39) V121E probably benign Het
Cdyl T C 13: 35,867,769 (GRCm39) L15P probably benign Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Cryga T A 1: 65,142,175 (GRCm39) S73C probably benign Het
Dennd4a A G 9: 64,758,580 (GRCm39) T240A probably damaging Het
Eml6 A G 11: 29,699,387 (GRCm39) S1789P probably damaging Het
Esr2 A T 12: 76,192,036 (GRCm39) W331R probably damaging Het
Fbh1 A T 2: 11,764,769 (GRCm39) L455H probably benign Het
Gm21698 T A 5: 26,192,391 (GRCm39) E65V probably damaging Het
Grm8 G T 6: 27,762,438 (GRCm39) F262L probably benign Het
Haus3 A T 5: 34,323,602 (GRCm39) L336* probably null Het
Hfm1 A C 5: 107,026,528 (GRCm39) probably null Het
Hgfac T C 5: 35,201,305 (GRCm39) probably benign Het
Ighv1-22 T C 12: 114,709,942 (GRCm39) E101G probably benign Het
Impg2 A G 16: 56,085,374 (GRCm39) E1027G probably damaging Het
Lypd5 A T 7: 24,052,993 (GRCm39) T217S possibly damaging Het
Myrf A G 19: 10,189,587 (GRCm39) probably benign Het
Mzf1 A G 7: 12,786,744 (GRCm39) W109R probably damaging Het
Ndufb4 A T 16: 37,469,532 (GRCm39) probably benign Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Oprk1 A G 1: 5,668,827 (GRCm39) K91R probably damaging Het
Or5m11b C T 2: 85,806,219 (GRCm39) L211F probably damaging Het
Pdlim1 A G 19: 40,231,844 (GRCm39) probably null Het
Ppp1r11 G A 17: 37,260,781 (GRCm39) R61C probably damaging Het
Racgap1 T C 15: 99,521,515 (GRCm39) D547G probably benign Het
Sema4b A G 7: 79,874,736 (GRCm39) T709A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Supt5 T C 7: 28,025,592 (GRCm39) H218R probably benign Het
Tmem132c T A 5: 127,582,063 (GRCm39) I426N probably damaging Het
Tpcn1 T C 5: 120,677,097 (GRCm39) N696S probably damaging Het
Ttn T C 2: 76,566,506 (GRCm39) N26383S possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Vax2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Vax2 APN 6 83,688,519 (GRCm39) missense possibly damaging 0.70
IGL02161:Vax2 APN 6 83,714,885 (GRCm39) missense probably damaging 1.00
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 2015-04-16