Incidental Mutation 'IGL02542:Rax'
ID 297722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rax
Ensembl Gene ENSMUSG00000024518
Gene Name retina and anterior neural fold homeobox
Synonyms ey1, Rx, E130303K03Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.676) question?
Stock # IGL02542
Quality Score
Status
Chromosome 18
Chromosomal Location 66067710-66072160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66071701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 62 (E62G)
Ref Sequence ENSEMBL: ENSMUSP00000025396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025396]
AlphaFold O35602
Predicted Effect possibly damaging
Transcript: ENSMUST00000025396
AA Change: E62G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025396
Gene: ENSMUSG00000024518
AA Change: E62G

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
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsa2 T A 11: 23,440,559 (GRCm39) T231S possibly damaging Het
Arfgef1 A G 1: 10,243,067 (GRCm39) L1091P probably benign Het
Arhgap32 A T 9: 32,166,944 (GRCm39) K527M probably damaging Het
Caap1 T C 4: 94,438,742 (GRCm39) N149S probably benign Het
Cc2d2a A G 5: 43,846,252 (GRCm39) probably benign Het
Cdk13 A T 13: 17,902,763 (GRCm39) I929K probably damaging Het
Fan1 A G 7: 64,014,408 (GRCm39) Y608H probably damaging Het
Foxj3 A G 4: 119,477,540 (GRCm39) N416S unknown Het
Gm20547 T C 17: 35,076,236 (GRCm39) S1151G possibly damaging Het
Ighv1-80 A T 12: 115,876,199 (GRCm39) I39N probably damaging Het
Igkv11-125 A C 6: 67,890,991 (GRCm39) E102A probably damaging Het
Mdc1 C A 17: 36,164,048 (GRCm39) P1199T probably damaging Het
Negr1 T C 3: 156,267,862 (GRCm39) S11P probably damaging Het
Oxsr1 T C 9: 119,071,801 (GRCm39) R477G possibly damaging Het
Pappa T A 4: 65,094,518 (GRCm39) F514L probably damaging Het
Pde6c G T 19: 38,166,578 (GRCm39) D707Y probably damaging Het
Phtf1 T C 3: 103,901,222 (GRCm39) probably benign Het
Piezo2 T A 18: 63,165,995 (GRCm39) I2079F probably damaging Het
Ptprm T C 17: 67,227,145 (GRCm39) D668G probably benign Het
Ptprq T C 10: 107,498,416 (GRCm39) Y887C probably damaging Het
Rnf25 T C 1: 74,633,260 (GRCm39) E364G probably benign Het
Sipa1l3 A T 7: 29,087,490 (GRCm39) D578E probably damaging Het
Slc14a2 T G 18: 78,252,302 (GRCm39) D3A probably benign Het
Slc28a3 A G 13: 58,721,284 (GRCm39) Y294H probably damaging Het
Slit1 T C 19: 41,615,687 (GRCm39) T811A probably damaging Het
Sorcs2 T C 5: 36,183,286 (GRCm39) T996A probably damaging Het
Tmem132b A C 5: 125,699,558 (GRCm39) Q73P probably damaging Het
Tnrc6b T A 15: 80,786,553 (GRCm39) I1275N possibly damaging Het
Vasp A T 7: 18,998,705 (GRCm39) D17E probably damaging Het
Wdr19 A G 5: 65,388,414 (GRCm39) T700A probably benign Het
Ythdc2 T G 18: 44,973,308 (GRCm39) L315W probably damaging Het
Zfp385c A G 11: 100,520,742 (GRCm39) V306A probably damaging Het
Other mutations in Rax
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16