Incidental Mutation 'R5956:Vsx1'
ID 471165
Institutional Source Beutler Lab
Gene Symbol Vsx1
Ensembl Gene ENSMUSG00000033080
Gene Name visual system homeobox 1
Synonyms CHX10-like
MMRRC Submission 044144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R5956 (G1)
Quality Score 173
Status Validated
Chromosome 2
Chromosomal Location 150522622-150531057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 150530457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 142 (S142G)
Ref Sequence ENSEMBL: ENSMUSP00000039088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046095]
AlphaFold Q91V10
Predicted Effect possibly damaging
Transcript: ENSMUST00000046095
AA Change: S142G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039088
Gene: ENSMUSG00000033080
AA Change: S142G

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
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (63/64)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,203,893 (GRCm39) I398K possibly damaging Het
Acad9 A G 3: 36,129,323 (GRCm39) probably benign Het
Acsm2 T C 7: 119,153,704 (GRCm39) S5P unknown Het
Akp3 T C 1: 87,054,667 (GRCm39) I334T probably damaging Het
Amy1 C T 3: 113,357,311 (GRCm39) R176H probably benign Het
Ank2 A T 3: 126,736,337 (GRCm39) probably benign Het
Cav1 C A 6: 17,307,918 (GRCm39) N23K probably damaging Het
Cep126 A G 9: 8,112,120 (GRCm39) V151A probably benign Het
Cnot1 A G 8: 96,481,606 (GRCm39) probably null Het
Crim1 T A 17: 78,623,146 (GRCm39) V448E probably damaging Het
Csmd3 T C 15: 48,655,278 (GRCm39) E8G possibly damaging Het
Ddx31 A T 2: 28,764,185 (GRCm39) I464F probably damaging Het
Ddx54 A G 5: 120,764,432 (GRCm39) probably benign Het
Dhx16 A G 17: 36,193,762 (GRCm39) E319G probably damaging Het
Efl1 A G 7: 82,301,107 (GRCm39) D37G probably damaging Het
Epha5 T C 5: 84,298,228 (GRCm39) R444G probably damaging Het
Exoc2 C A 13: 31,004,606 (GRCm39) C859F probably benign Het
Gbx2 T C 1: 89,860,908 (GRCm39) probably benign Het
Gm12258 G A 11: 58,750,285 (GRCm39) A9T probably benign Het
Gpr141b T G 13: 19,913,300 (GRCm39) noncoding transcript Het
Grm4 A G 17: 27,654,129 (GRCm39) V607A probably benign Het
Gvin3 T C 7: 106,200,677 (GRCm39) noncoding transcript Het
Ighv1-74 C A 12: 115,766,455 (GRCm39) W55L probably damaging Het
Irx4 C A 13: 73,415,626 (GRCm39) Y138* probably null Het
Itpr1 C A 6: 108,482,988 (GRCm39) T2352K probably benign Het
Kcnk3 T G 5: 30,745,854 (GRCm39) V65G probably damaging Het
Mctp2 T C 7: 71,908,923 (GRCm39) E130G probably benign Het
Mgat5 C A 1: 127,310,676 (GRCm39) R197S probably benign Het
Mpg T C 11: 32,177,951 (GRCm39) probably null Het
Muc5b T C 7: 141,417,910 (GRCm39) C3619R probably damaging Het
Myo15b G A 11: 115,764,583 (GRCm39) V1321I probably benign Het
Myo1b T C 1: 51,815,391 (GRCm39) T658A probably damaging Het
Nomo1 T C 7: 45,692,037 (GRCm39) S154P possibly damaging Het
Nsd1 T A 13: 55,411,217 (GRCm39) F1423I probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or9g3 A G 2: 85,584,183 (GRCm39) probably benign Het
Osbpl6 A G 2: 76,379,856 (GRCm39) R149G probably damaging Het
Pacc1 A G 1: 191,080,568 (GRCm39) S263G probably damaging Het
Papola T A 12: 105,777,300 (GRCm39) W281R probably damaging Het
Pole C T 5: 110,485,153 (GRCm39) probably benign Het
Rptn A G 3: 93,305,334 (GRCm39) N889S possibly damaging Het
Scn10a A G 9: 119,460,626 (GRCm39) S1084P probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Siglece T C 7: 43,308,760 (GRCm39) T198A probably damaging Het
Sptb T A 12: 76,650,942 (GRCm39) M1678L probably benign Het
Taf8 A T 17: 47,809,467 (GRCm39) M98K probably damaging Het
Tead2 T A 7: 44,870,138 (GRCm39) probably benign Het
Trrap C T 5: 144,744,201 (GRCm39) silent Het
Ttn G T 2: 76,775,914 (GRCm39) N1709K probably damaging Het
Ube3a T C 7: 58,926,768 (GRCm39) probably benign Het
Ube3c T C 5: 29,804,054 (GRCm39) probably benign Het
Unc80 T C 1: 66,567,123 (GRCm39) S910P probably damaging Het
Usp30 G A 5: 114,257,682 (GRCm39) R280Q possibly damaging Het
Wdr95 T G 5: 149,517,947 (GRCm39) C360G probably benign Het
Zbtb4 A G 11: 69,669,040 (GRCm39) I588V probably benign Het
Zdhhc4 A T 5: 143,310,604 (GRCm39) probably benign Het
Zfp568 C A 7: 29,697,288 (GRCm39) N69K probably damaging Het
Other mutations in Vsx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02026:Vsx1 APN 2 150,530,447 (GRCm39) missense probably benign
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
R6499:Vsx1 UTSW 2 150,530,441 (GRCm39) missense probably benign 0.13
Z1177:Vsx1 UTSW 2 150,530,662 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTTCCCACCTGCGGTAATG -3'
(R):5'- AGATCCAACAGCGGAGATCC -3'

Sequencing Primer
(F):5'- ACCTGCGGTAATGGGGCTTG -3'
(R):5'- CCAGCGGAGGCAATAGGGTC -3'
Posted On 2017-03-31