Incidental Mutation 'R6578:Rax'
ID 543468
Institutional Source Beutler Lab
Gene Symbol Rax
Ensembl Gene ENSMUSG00000024518
Gene Name retina and anterior neural fold homeobox
Synonyms ey1, Rx, E130303K03Rik
MMRRC Submission 044702-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.734) question?
Stock # R6578 (G1)
Quality Score 59.0073
Status Validated
Chromosome 18
Chromosomal Location 66067710-66072160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66071738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 50 (T50A)
Ref Sequence ENSEMBL: ENSMUSP00000025396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025396]
AlphaFold O35602
Predicted Effect probably benign
Transcript: ENSMUST00000025396
AA Change: T50A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000025396
Gene: ENSMUSG00000024518
AA Change: T50A

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
Meta Mutation Damage Score 0.0679 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.4%
Validation Efficiency 97% (37/38)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik G A 6: 146,854,812 (GRCm39) R77* probably null Het
Aldh9a1 A G 1: 167,183,328 (GRCm39) Y182C probably damaging Het
Alpk3 T A 7: 80,728,432 (GRCm39) S521T probably benign Het
Ankzf1 A G 1: 75,174,401 (GRCm39) R464G possibly damaging Het
Baz2b T C 2: 59,799,623 (GRCm39) E232G possibly damaging Het
Bbs2 T C 8: 94,803,669 (GRCm39) S524G probably null Het
Casp1 A G 9: 5,304,280 (GRCm39) K318R probably benign Het
Clock T A 5: 76,364,556 (GRCm39) Q853L unknown Het
Clstn3 A G 6: 124,427,663 (GRCm39) probably null Het
Ebpl A C 14: 61,597,769 (GRCm39) V24G probably benign Het
Erbb2 T C 11: 98,319,014 (GRCm39) C568R probably damaging Het
Gcm2 A G 13: 41,259,154 (GRCm39) I105T probably damaging Het
Gm7145 C T 1: 117,913,525 (GRCm39) P136S probably damaging Het
Helb G T 10: 119,947,086 (GRCm39) R76S probably damaging Het
Hipk4 T C 7: 27,227,812 (GRCm39) I186T probably damaging Het
Igdcc3 A G 9: 65,089,301 (GRCm39) D499G probably damaging Het
Krt26 T A 11: 99,225,628 (GRCm39) Q284H probably damaging Het
Lama4 T C 10: 38,893,361 (GRCm39) I156T probably benign Het
Mical2 T A 7: 111,910,652 (GRCm39) F274Y probably damaging Het
Mug1 A T 6: 121,864,411 (GRCm39) Q1436L probably benign Het
Nin A G 12: 70,107,968 (GRCm39) V208A probably damaging Het
Or4p20 T C 2: 88,253,488 (GRCm39) S294G probably benign Het
Pappa T A 4: 65,074,374 (GRCm39) N309K possibly damaging Het
Pdcd11 T C 19: 47,099,520 (GRCm39) V873A probably benign Het
Phf14 G A 6: 11,991,996 (GRCm39) C724Y probably damaging Het
Pik3r2 T G 8: 71,225,283 (GRCm39) I127L probably benign Het
Polr1a T A 6: 71,953,025 (GRCm39) M1531K possibly damaging Het
Pwwp2b T C 7: 138,836,028 (GRCm39) C490R probably damaging Het
Rbm28 A T 6: 29,137,639 (GRCm39) I438N probably damaging Het
Sema4c C T 1: 36,589,834 (GRCm39) V507I probably benign Het
Skint8 C T 4: 111,794,159 (GRCm39) T183I probably benign Het
Spata16 C T 3: 26,721,697 (GRCm39) Q73* probably null Het
Sync T C 4: 129,188,060 (GRCm39) L364P probably damaging Het
Syne1 T A 10: 5,355,454 (GRCm39) K376* probably null Het
Tanc1 C T 2: 59,626,298 (GRCm39) R552C probably damaging Het
Tdrd6 T C 17: 43,939,852 (GRCm39) I399V possibly damaging Het
Vps13b T C 15: 35,446,247 (GRCm39) C455R probably damaging 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
R6039:Rax UTSW 18 66,068,418 (GRCm39) missense unknown
R6235:Rax UTSW 18 66,068,232 (GRCm39) missense unknown
R7870:Rax UTSW 18 66,071,284 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- TAACCTCAAGTCGGGCAAAC -3'
(R):5'- CGAGCTCCAGTTTGCAAAG -3'

Sequencing Primer
(F):5'- AGAAGCTCCGGTCTTGCAGAG -3'
(R):5'- GCAAAGTGCACTCCCTCCTC -3'
Posted On 2019-01-10