Incidental Mutation 'R5727:Otx1'
ID 452562
Institutional Source Beutler Lab
Gene Symbol Otx1
Ensembl Gene ENSMUSG00000005917
Gene Name orthodenticle homeobox 1
Synonyms jv, A730044F23Rik
MMRRC Submission 043190-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R5727 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 21944764-21952897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21947037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 91 (A91S)
Ref Sequence ENSEMBL: ENSMUSP00000134704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006071] [ENSMUST00000147486]
AlphaFold P80205
Predicted Effect probably damaging
Transcript: ENSMUST00000006071
AA Change: A91S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006071
Gene: ENSMUSG00000005917
AA Change: A91S

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 damaging
Transcript: ENSMUST00000147486
AA Change: A91S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134704
Gene: ENSMUSG00000005917
AA Change: A91S

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
Meta Mutation Damage Score 0.4867 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 C A 14: 29,712,838 (GRCm39) L494M probably benign Het
Ahnak G T 19: 8,994,111 (GRCm39) A5132S probably damaging Het
Cadps G A 14: 12,486,525 (GRCm38) Q882* probably null Het
Cdhr2 G A 13: 54,872,121 (GRCm39) V662M possibly damaging Het
Cdyl2 T A 8: 117,309,907 (GRCm39) I350F probably damaging Het
Cfap44 T G 16: 44,255,805 (GRCm39) F966V probably damaging Het
Cpxm1 G A 2: 130,232,883 (GRCm39) R704* probably null Het
Dnah11 A T 12: 118,090,841 (GRCm39) F1034L probably damaging Het
Dpep2 A G 8: 106,713,075 (GRCm39) V440A probably benign Het
Ehmt2 A T 17: 35,125,008 (GRCm39) M11L possibly damaging Het
Eml2 C T 7: 18,924,685 (GRCm39) H185Y probably damaging Het
Gm10845 T A 14: 80,100,770 (GRCm39) noncoding transcript Het
Gm8122 T G 14: 43,091,477 (GRCm39) N97T unknown Het
Gnb1 A G 4: 155,639,559 (GRCm39) T263A probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ier5l A G 2: 30,363,171 (GRCm39) C285R possibly damaging Het
Kif21b A G 1: 136,097,747 (GRCm39) N1336D probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lama1 A G 17: 68,122,219 (GRCm39) H2722R possibly damaging Het
Mdm2 A G 10: 117,538,212 (GRCm39) M13T possibly damaging Het
Micall1 T A 15: 79,014,678 (GRCm39) Y685N possibly damaging Het
Mthfd1l T G 10: 4,053,302 (GRCm39) S884A possibly damaging Het
Nkiras2 A G 11: 100,515,853 (GRCm39) Y60C probably damaging Het
Oc90 T G 15: 65,753,388 (GRCm39) R342S possibly damaging Het
Or11h23 C A 14: 50,947,817 (GRCm39) T10K possibly damaging Het
Or1j4 T C 2: 36,740,544 (GRCm39) L162P possibly damaging Het
Or4k35 T A 2: 111,100,197 (GRCm39) R172* probably null Het
Or4p20 T A 2: 88,253,791 (GRCm39) I193F probably benign Het
Or9s13 A G 1: 92,547,900 (GRCm39) N91D probably benign Het
Parp9 G T 16: 35,784,467 (GRCm39) E507* probably null Het
Pex13 A G 11: 23,605,705 (GRCm39) I175T probably benign Het
Phf12 A G 11: 77,914,370 (GRCm39) E604G probably damaging Het
Ppfia4 A T 1: 134,251,815 (GRCm39) probably null Het
Rragc T C 4: 123,813,828 (GRCm39) Y141H possibly damaging Het
Slc35g3 A G 11: 69,651,280 (GRCm39) V257A probably benign Het
Snx5 T C 2: 144,102,674 (GRCm39) T80A probably benign Het
Sorcs2 G A 5: 36,188,630 (GRCm39) A826V possibly damaging Het
Sptb G A 12: 76,669,888 (GRCm39) A480V probably benign Het
Tmem161b T A 13: 84,434,909 (GRCm39) S302R possibly damaging Het
Ube2o A T 11: 116,430,496 (GRCm39) F1081I probably damaging Het
Vmn2r2 T C 3: 64,024,608 (GRCm39) I658V probably benign Het
Vwa3b T G 1: 37,174,600 (GRCm39) L672V probably benign Het
Wscd2 T C 5: 113,715,411 (GRCm39) F417S possibly damaging Het
Other mutations in Otx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00574:Otx1 APN 11 21,946,794 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTCCAGATGGACGAAGCAGTAG -3'
(R):5'- CTTACTAGGGGTTTGCGCAGAAG -3'

Sequencing Primer
(F):5'- TCAGAGAGGACGCTGCTG -3'
(R):5'- TTTGCGCAGAAGGATGGG -3'
Posted On 2017-01-03