Incidental Mutation 'IGL00574:Otx1'
ID 4626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otx1
Ensembl Gene ENSMUSG00000005917
Gene Name orthodenticle homeobox 1
Synonyms jv, A730044F23Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # IGL00574
Quality Score
Status
Chromosome 11
Chromosomal Location 21944764-21952897 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 21946794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006071] [ENSMUST00000147486]
AlphaFold P80205
Predicted Effect unknown
Transcript: ENSMUST00000006071
AA Change: T172A
SMART Domains Protein: ENSMUSP00000006071
Gene: ENSMUSG00000005917
AA Change: T172A

DomainStartEndE-ValueType
HOX 38 100 1.21e-25 SMART
low complexity region 117 125 N/A INTRINSIC
Pfam:TF_Otx 178 279 2.5e-39 PFAM
internal_repeat_1 310 322 1.39e-7 PROSPERO
low complexity region 324 331 N/A INTRINSIC
internal_repeat_1 334 346 1.39e-7 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000147486
SMART Domains Protein: ENSMUSP00000134704
Gene: ENSMUSG00000005917

DomainStartEndE-ValueType
HOX 38 100 1.21e-25 SMART
low complexity region 117 125 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172395
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the bicoid subfamily of the paired homeobox transcription factor family. The encoded protein is critical to the maintenance and regionalization of the forebrain and midbrain during development. It may also have important functions in sense organ development, pituitary function, and in the regulation of blood cell production. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inner ear abnormalities and circling/head-shaking behavior are seen in mild mutants; null mutants also have spontaneous seizures and defects in dorsal telencephalic cortex, mesencephalon, cerebellum and eye; and show delayed growth and sexual maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 T C 1: 125,339,011 (GRCm39) Y109C probably damaging Het
Agap3 T A 5: 24,703,107 (GRCm39) L568Q probably damaging Het
Baiap2 T C 11: 119,897,234 (GRCm39) S530P probably damaging Het
Bmpr1a T C 14: 34,156,376 (GRCm39) I164V probably benign Het
Btaf1 A G 19: 36,947,330 (GRCm39) N473S probably benign Het
Egr4 T C 6: 85,489,487 (GRCm39) D191G probably damaging Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Grk4 T A 5: 34,852,162 (GRCm39) N135K probably benign Het
Hectd1 T C 12: 51,820,787 (GRCm39) N1134S probably benign Het
Macrod2 T G 2: 140,242,797 (GRCm39) M21R probably damaging Het
Mtx3 G T 13: 92,984,384 (GRCm39) Q188H possibly damaging Het
Pcdhb8 T G 18: 37,489,423 (GRCm39) F26C probably damaging Het
Pdgfra T A 5: 75,341,708 (GRCm39) I647K probably damaging Het
Psapl1 C A 5: 36,362,975 (GRCm39) N522K probably benign Het
Rbm10 T A X: 20,516,931 (GRCm39) probably benign Het
Rbm10 G A X: 20,516,932 (GRCm39) probably benign Het
Ric1 A G 19: 29,572,762 (GRCm39) E734G probably damaging Het
Sec24c T C 14: 20,742,463 (GRCm39) V837A probably damaging Het
Shoc1 T A 4: 59,094,201 (GRCm39) R174S possibly damaging Het
Sohlh2 C T 3: 55,111,747 (GRCm39) probably benign Het
Tex10 G A 4: 48,469,937 (GRCm39) Q43* probably null Het
Tmem147 G A 7: 30,427,858 (GRCm39) R66* probably null Het
Tmem150c G T 5: 100,240,810 (GRCm39) H51N probably benign Het
Usp47 A T 7: 111,662,542 (GRCm39) K228M probably damaging Het
Other mutations in Otx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Embarrassed UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R1946:Otx1 UTSW 11 21,948,482 (GRCm39) missense probably damaging 1.00
R2291:Otx1 UTSW 11 21,946,634 (GRCm39) unclassified probably benign
R2870:Otx1 UTSW 11 21,948,681 (GRCm39) intron probably benign
R4164:Otx1 UTSW 11 21,946,638 (GRCm39) unclassified probably benign
R4845:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R4925:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R4934:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R4993:Otx1 UTSW 11 21,948,532 (GRCm39) splice site probably null
R5061:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5062:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5063:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5068:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5069:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5070:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5097:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5169:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5170:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5171:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5172:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5198:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5199:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5200:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5201:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5202:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5203:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5204:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5205:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5256:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5267:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5360:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5361:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5363:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5372:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5375:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5380:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5381:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5382:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5383:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5415:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5416:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5534:Otx1 UTSW 11 21,946,296 (GRCm39) unclassified probably benign
R5592:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5594:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5725:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5727:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5735:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5736:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5841:Otx1 UTSW 11 21,948,594 (GRCm39) intron probably benign
R5940:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R5941:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6080:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6081:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6093:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6126:Otx1 UTSW 11 21,946,457 (GRCm39) unclassified probably benign
R6131:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6132:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6134:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6187:Otx1 UTSW 11 21,949,406 (GRCm39) missense probably damaging 1.00
R6220:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6269:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6270:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6271:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6272:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6396:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6619:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6624:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6680:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6681:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6718:Otx1 UTSW 11 21,946,412 (GRCm39) unclassified probably benign
R6831:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6834:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
R6985:Otx1 UTSW 11 21,946,615 (GRCm39) nonsense probably null
R7631:Otx1 UTSW 11 21,949,458 (GRCm39) nonsense probably null
R8100:Otx1 UTSW 11 21,949,392 (GRCm39) missense probably benign 0.16
R9125:Otx1 UTSW 11 21,949,458 (GRCm39) nonsense probably null
R9541:Otx1 UTSW 11 21,947,052 (GRCm39) missense probably damaging 1.00
X0054:Otx1 UTSW 11 21,946,331 (GRCm39) unclassified probably benign
Z1187:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
Z1192:Otx1 UTSW 11 21,947,037 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20