Incidental Mutation 'IGL02026:Vsx1'
ID 184182
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vsx1
Ensembl Gene ENSMUSG00000033080
Gene Name visual system homeobox 1
Synonyms CHX10-like
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # IGL02026
Quality Score
Status
Chromosome 2
Chromosomal Location 150522622-150531057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150530447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 145 (V145D)
Ref Sequence ENSEMBL: ENSMUSP00000039088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046095]
AlphaFold Q91V10
Predicted Effect probably benign
Transcript: ENSMUST00000046095
AA Change: V145D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039088
Gene: ENSMUSG00000033080
AA Change: V145D

DomainStartEndE-ValueType
low complexity region 63 77 N/A INTRINSIC
low complexity region 80 93 N/A INTRINSIC
low complexity region 99 116 N/A INTRINSIC
HOX 171 233 1.63e-26 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this locus impairs cone bipolar cell differentiation and affects retinal electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 A T 14: 68,809,251 (GRCm39) V237E possibly damaging Het
Amh T C 10: 80,641,242 (GRCm39) L54P probably damaging Het
Aoc3 T C 11: 101,228,421 (GRCm39) S743P probably benign Het
Arhgap23 T A 11: 97,342,407 (GRCm39) W19R probably damaging Het
Atm C T 9: 53,353,717 (GRCm39) probably null Het
Ccdc47 T C 11: 106,095,853 (GRCm39) E281G probably damaging Het
Col7a1 A C 9: 108,797,097 (GRCm39) K1650N probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Evi2b T C 11: 79,406,613 (GRCm39) S321G probably damaging Het
Fancm T G 12: 65,152,508 (GRCm39) V988G probably benign Het
Gbp2 A G 3: 142,339,241 (GRCm39) Y431C probably damaging Het
Gclc T C 9: 77,699,342 (GRCm39) V530A probably benign Het
Gm5885 T C 6: 133,508,291 (GRCm39) noncoding transcript Het
Hlcs A T 16: 93,935,564 (GRCm39) I576N probably damaging Het
Hnrnpul1 A T 7: 25,444,587 (GRCm39) F240L probably damaging Het
Itgb6 C A 2: 60,458,410 (GRCm39) V448F possibly damaging Het
Lama1 A G 17: 68,116,287 (GRCm39) T2385A possibly damaging Het
Lamc2 C T 1: 153,020,482 (GRCm39) probably benign Het
Lrrc32 C T 7: 98,148,767 (GRCm39) R516C probably benign Het
Lrrtm3 T C 10: 63,924,231 (GRCm39) N312S probably damaging Het
Ltbp4 G A 7: 27,026,842 (GRCm39) R468* probably null Het
Man1a T C 10: 53,890,569 (GRCm39) E373G probably damaging Het
Myo1h A T 5: 114,461,505 (GRCm39) Q250L probably null Het
Myo9a T C 9: 59,813,245 (GRCm39) V2077A probably damaging Het
Or14j3 A G 17: 37,900,298 (GRCm39) probably benign Het
Otud5 C T X: 7,738,232 (GRCm39) probably benign Het
Pcsk1 A G 13: 75,260,772 (GRCm39) S332G probably benign Het
Pde8b A G 13: 95,170,869 (GRCm39) V549A probably damaging Het
Pgap1 A T 1: 54,533,978 (GRCm39) M645K probably benign Het
Pm20d1 A T 1: 131,729,497 (GRCm39) R175* probably null Het
Polr2b A G 5: 77,480,099 (GRCm39) N585S probably benign Het
Recql T A 6: 142,312,394 (GRCm39) K41* probably null Het
Sccpdh A T 1: 179,505,634 (GRCm39) H138L possibly damaging Het
Sec31a A T 5: 100,517,485 (GRCm39) S951T probably benign Het
Slc44a4 A T 17: 35,140,832 (GRCm39) probably benign Het
Tchhl1 G T 3: 93,377,862 (GRCm39) A189S probably damaging Het
Tdrd12 G A 7: 35,203,658 (GRCm39) probably benign Het
Tesl2 T G X: 23,824,233 (GRCm39) H314P probably damaging Het
Trbv12-1 A G 6: 41,090,928 (GRCm39) D100G probably damaging Het
Ttll13 T A 7: 79,910,127 (GRCm39) S757T probably benign Het
Vipas39 T A 12: 87,298,483 (GRCm39) probably benign Het
Vmn1r64 G A 7: 5,886,649 (GRCm39) P298L possibly damaging Het
Vmn1r81 A G 7: 11,994,432 (GRCm39) S59P probably damaging Het
Wdfy4 T A 14: 32,815,257 (GRCm39) N1586I probably damaging Het
Zan T A 5: 137,403,726 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zzef1 T A 11: 72,772,164 (GRCm39) M1707K probably benign Het
Other mutations in Vsx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Vsx1 APN 2 150,526,495 (GRCm39) missense possibly damaging 0.95
IGL03089:Vsx1 APN 2 150,527,510 (GRCm39) splice site probably benign
R1725:Vsx1 UTSW 2 150,528,120 (GRCm39) missense probably benign 0.41
R4619:Vsx1 UTSW 2 150,530,529 (GRCm39) missense probably benign
R5471:Vsx1 UTSW 2 150,524,986 (GRCm39) missense probably benign 0.06
R5956:Vsx1 UTSW 2 150,530,457 (GRCm39) missense possibly damaging 0.61
R6499:Vsx1 UTSW 2 150,530,441 (GRCm39) missense probably benign 0.13
Z1177:Vsx1 UTSW 2 150,530,662 (GRCm39) nonsense probably null
Posted On 2014-05-07