Incidental Mutation 'R6039:Rax'
ID 501767
Institutional Source Beutler Lab
Gene Symbol Rax
Ensembl Gene ENSMUSG00000024518
Gene Name retina and anterior neural fold homeobox
Synonyms ey1, Rx, E130303K03Rik
MMRRC Submission 043259-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # R6039 (G1)
Quality Score 126.008
Status Not validated
Chromosome 18
Chromosomal Location 66067710-66072160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66068418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 229 (G229D)
Ref Sequence ENSEMBL: ENSMUSP00000025396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025396]
AlphaFold O35602
Predicted Effect unknown
Transcript: ENSMUST00000025396
AA Change: G229D
SMART Domains Protein: ENSMUSP00000025396
Gene: ENSMUSG00000024518
AA Change: G229D

DomainStartEndE-ValueType
low complexity region 128 135 N/A INTRINSIC
HOX 136 198 1.25e-27 SMART
low complexity region 207 253 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
Pfam:OAR 314 334 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181100
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 98.9%
  • 10x: 92.2%
  • 20x: 71.8%
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-containing transcription factor that functions in eye development. The gene is expressed early in the eye primordia, and is required for retinal cell fate determination and also regulates stem cell proliferation. Mutations in this gene have been reported in patients with defects in ocular development, including microphthalmia, anophthalmia, and coloboma.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mutants die neonatally with severe brain defects including absence of forebrain/midbrain structures and fail to form eye structures. Homozygous hypomorph mutants are viable, but lack eyes and optic tracts and have hypothalamic defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 C T 6: 92,885,527 (GRCm39) R416Q possibly damaging Het
Adgre1 C A 17: 57,713,859 (GRCm39) D181E probably benign Het
Arhgap24 T C 5: 103,028,652 (GRCm39) S183P probably damaging Het
Asb1 T C 1: 91,474,748 (GRCm39) L90P probably damaging Het
Bmp3 T C 5: 99,020,209 (GRCm39) F211L probably benign Het
C8a A G 4: 104,703,139 (GRCm39) I306T probably benign Het
Cdkn3 G A 14: 47,007,373 (GRCm39) G177R probably damaging Het
Chat A G 14: 32,170,984 (GRCm39) S172P probably damaging Het
Chd5 CAAGAAGAAGAAGAAGAA CAAGAAGAAGAAGAA 4: 152,438,078 (GRCm39) probably benign Het
Cyp4a12a T C 4: 115,184,420 (GRCm39) I265T probably damaging Het
Dlst T A 12: 85,165,664 (GRCm39) probably null Het
Dnmt1 A T 9: 20,837,716 (GRCm39) probably benign Het
Fbn1 C T 2: 125,205,800 (GRCm39) E1066K probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fstl1 T A 16: 37,641,538 (GRCm39) S105T probably benign Het
Gm19410 C G 8: 36,276,518 (GRCm39) A1725G probably benign Het
Hspb7 A G 4: 141,151,215 (GRCm39) N119S probably damaging Het
Il20 T A 1: 130,838,478 (GRCm39) D73V possibly damaging Het
Insrr T C 3: 87,716,608 (GRCm39) I612T possibly damaging Het
Kcnma1 T C 14: 23,359,105 (GRCm39) Y1107C probably benign Het
Klhl32 A G 4: 24,792,615 (GRCm39) probably null Het
Krt77 C A 15: 101,769,351 (GRCm39) R470L possibly damaging Het
Muc1 T C 3: 89,139,336 (GRCm39) Y579H probably damaging Het
Myof T C 19: 37,966,132 (GRCm39) D396G probably damaging Het
Myom1 T G 17: 71,417,746 (GRCm39) D1316E probably damaging Het
Nbea T C 3: 55,912,538 (GRCm39) E1083G probably benign Het
Nek9 G A 12: 85,359,859 (GRCm39) A531V probably benign Het
Nlrp12 A T 7: 3,290,002 (GRCm39) I170N possibly damaging Het
Nup98 A G 7: 101,784,002 (GRCm39) I1093T probably benign Het
Ovch2 G A 7: 107,388,318 (GRCm39) L421F probably damaging Het
Paqr4 T C 17: 23,958,968 (GRCm39) D11G probably damaging Het
Parp8 A G 13: 117,014,134 (GRCm39) S561P probably damaging Het
Pcgf5 T A 19: 36,420,306 (GRCm39) F179L probably damaging Het
Pde4d A T 13: 110,084,876 (GRCm39) Q422L probably damaging Het
Pigs T A 11: 78,232,651 (GRCm39) V495E probably damaging Het
Polh C T 17: 46,498,959 (GRCm39) R252H probably benign Het
Psg28 T C 7: 18,160,107 (GRCm39) D363G possibly damaging Het
Ptgir A T 7: 16,640,815 (GRCm39) I36F possibly damaging Het
Ptprr G A 10: 116,072,668 (GRCm39) probably null Het
Secisbp2l T A 2: 125,615,136 (GRCm39) H163L probably benign Het
Sf3a2 A G 10: 80,637,297 (GRCm39) Y45C probably damaging Het
Sgo2a C T 1: 58,055,775 (GRCm39) T653I possibly damaging Het
Slc38a9 A T 13: 112,806,231 (GRCm39) I26F probably damaging Het
Slc5a8 A G 10: 88,722,436 (GRCm39) I90V probably benign Het
Slx4 G A 16: 3,803,911 (GRCm39) H968Y possibly damaging Het
Stam2 T C 2: 52,599,611 (GRCm39) T233A probably benign Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Trav4-2 G A 14: 53,655,866 (GRCm39) V8M possibly damaging Het
Ttll5 T A 12: 85,878,729 (GRCm39) H45Q probably damaging Het
Ttn C T 2: 76,714,762 (GRCm39) probably benign Het
Ush2a T A 1: 188,051,217 (GRCm39) F234L possibly damaging Het
Vmn2r74 T A 7: 85,607,526 (GRCm39) probably null Het
Wdr6 CTG C 9: 108,450,994 (GRCm39) probably null Het
Zfp644 A G 5: 106,783,291 (GRCm39) S997P possibly damaging Het
Zfp853 G A 5: 143,274,529 (GRCm39) Q364* probably null Het
Other mutations in Rax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02542:Rax APN 18 66,071,701 (GRCm39) missense possibly damaging 0.68
IGL03290:Rax APN 18 66,071,231 (GRCm39) missense probably damaging 1.00
R4210:Rax UTSW 18 66,068,152 (GRCm39) missense unknown
R4211:Rax UTSW 18 66,068,152 (GRCm39) missense unknown
R5138:Rax UTSW 18 66,071,389 (GRCm39) intron probably benign
R6039:Rax UTSW 18 66,068,418 (GRCm39) missense unknown
R6235:Rax UTSW 18 66,068,232 (GRCm39) missense unknown
R6578:Rax UTSW 18 66,071,738 (GRCm39) missense probably benign 0.02
R7870:Rax UTSW 18 66,071,284 (GRCm39) missense probably benign 0.09
Predicted Primers
Posted On 2017-12-01