Incidental Mutation 'IGL03290:Rax'
ID 415866
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 # IGL03290
Quality Score
Status
Chromosome 18
Chromosomal Location 66067710-66072160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66071231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 135 (K135E)
Ref Sequence ENSEMBL: ENSMUSP00000025396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025396]
AlphaFold O35602
Predicted Effect probably damaging
Transcript: ENSMUST00000025396
AA Change: K135E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025396
Gene: ENSMUSG00000024518
AA Change: K135E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,302,646 (GRCm39) probably benign Het
Asb18 A G 1: 89,942,296 (GRCm39) S2P probably damaging Het
Atp2b2 A G 6: 113,770,715 (GRCm39) F398S probably damaging Het
BC034090 T G 1: 155,101,856 (GRCm39) D136A probably damaging Het
Ces5a A C 8: 94,246,260 (GRCm39) F310V probably damaging Het
Chsy1 T C 7: 65,820,779 (GRCm39) V338A probably benign Het
Dbh A G 2: 27,064,944 (GRCm39) E385G probably damaging Het
Dnah14 T A 1: 181,591,543 (GRCm39) probably benign Het
F2rl1 A G 13: 95,650,097 (GRCm39) S262P possibly damaging Het
Fat2 T C 11: 55,147,045 (GRCm39) N3984D probably benign Het
Fbxo38 A T 18: 62,659,234 (GRCm39) H354Q probably benign Het
Fgf6 T A 6: 127,001,095 (GRCm39) V201D probably damaging Het
Gm16181 A T 17: 35,442,933 (GRCm39) probably benign Het
Gm6811 T C 17: 21,314,311 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,771 (GRCm39) F313S probably damaging Het
Gprc6a C T 10: 51,491,968 (GRCm39) A523T probably damaging Het
Il22 T C 10: 118,041,785 (GRCm39) probably null Het
Insr T C 8: 3,308,574 (GRCm39) Y154C probably damaging Het
Irak4 T A 15: 94,449,780 (GRCm39) D86E probably benign Het
Itk C A 11: 46,225,764 (GRCm39) W529L probably damaging Het
Klhl6 C A 16: 19,765,887 (GRCm39) A572S probably benign Het
Ldhc C T 7: 46,519,112 (GRCm39) R112C probably damaging Het
Lrrc56 T C 7: 140,779,685 (GRCm39) probably benign Het
Mdh2 A G 5: 135,818,567 (GRCm39) E274G probably damaging Het
N4bp1 G T 8: 87,575,161 (GRCm39) D711E probably benign Het
Ngly1 T A 14: 16,281,866 (GRCm38) I248K probably damaging Het
Or2ab1 A G 11: 58,489,149 (GRCm39) N309S probably damaging Het
Or7e176 T C 9: 20,171,556 (GRCm39) I140T probably damaging Het
Pbrm1 A G 14: 30,829,241 (GRCm39) E1421G probably damaging Het
Pcca G A 14: 122,822,518 (GRCm39) R112H possibly damaging Het
Pgrmc2 T C 3: 41,023,061 (GRCm39) probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Pogz A T 3: 94,782,402 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,754,771 (GRCm39) Y159H probably damaging Het
Rbm7 T A 9: 48,401,267 (GRCm39) M154L probably benign Het
Rp1 A G 1: 4,420,264 (GRCm39) S283P probably damaging Het
Rpusd4 T C 9: 35,179,273 (GRCm39) S30P probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Sfxn4 A G 19: 60,848,508 (GRCm39) W22R probably damaging Het
Sh3pxd2a T A 19: 47,412,955 (GRCm39) R43W probably damaging Het
Smc5 A G 19: 23,251,022 (GRCm39) V54A probably benign Het
Snap47 A G 11: 59,319,424 (GRCm39) I238T probably damaging Het
Tecpr2 T G 12: 110,934,267 (GRCm39) I1309S possibly damaging Het
Trappc8 A G 18: 20,953,992 (GRCm39) L1310P probably damaging Het
Vmn2r61 T A 7: 41,915,408 (GRCm39) H118Q probably benign Het
Zbtb17 C T 4: 141,194,244 (GRCm39) T731I probably damaging Het
Zfp287 A G 11: 62,606,062 (GRCm39) F282L probably damaging Het
Other mutations in Rax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02542:Rax APN 18 66,071,701 (GRCm39) missense possibly damaging 0.68
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 2016-08-02