Incidental Mutation 'R6272:Otx1'
ID 533167
Institutional Source Beutler Lab
Gene Symbol Otx1
Ensembl Gene ENSMUSG00000005917
Gene Name orthodenticle homeobox 1
Synonyms jv, A730044F23Rik
MMRRC Submission 044442-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R6272 (G1)
Quality Score 54.0072
Status 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: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Adgrg3 A G 8: 95,762,889 (GRCm39) I189V noncoding transcript Het
Ampd1 A G 3: 102,992,699 (GRCm39) K147R possibly damaging Het
Apbb2 T C 5: 66,468,415 (GRCm39) T561A probably damaging Het
Arfgef3 A T 10: 18,522,711 (GRCm39) D438E probably benign Het
Atxn1 T A 13: 45,721,238 (GRCm39) Q219L possibly damaging Het
AW551984 A T 9: 39,509,333 (GRCm39) D269E probably benign Het
Cryab A G 9: 50,665,825 (GRCm39) K72R possibly damaging Het
Dbn1 G A 13: 55,622,917 (GRCm39) A522V probably benign Het
Dip2a A T 10: 76,122,241 (GRCm39) *158R probably null Het
Edrf1 C T 7: 133,239,537 (GRCm39) probably benign Het
Ern2 A T 7: 121,775,869 (GRCm39) D408E probably benign Het
F830016B08Rik T C 18: 60,433,150 (GRCm39) S78P probably damaging Het
Fah C A 7: 84,244,753 (GRCm39) G137C probably damaging Het
Foxd3 A G 4: 99,544,977 (GRCm39) D39G probably damaging Het
Gprin3 G A 6: 59,330,316 (GRCm39) Q664* probably null Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
H3c6 A T 13: 23,746,400 (GRCm39) V47E probably damaging Het
Hmgcll1 G A 9: 76,037,627 (GRCm39) G174R probably damaging Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kynu A T 2: 43,525,001 (GRCm39) N315Y probably benign Het
Map1lc3b G A 8: 122,323,429 (GRCm39) E100K probably benign Het
Matn2 T A 15: 34,355,753 (GRCm39) Q33L possibly damaging Het
Mettl8 T C 2: 70,806,419 (GRCm39) probably null Het
Neto1 A T 18: 86,512,940 (GRCm39) N312Y probably damaging Het
Nhsl1 A G 10: 18,400,253 (GRCm39) D493G probably benign Het
Nup210l A G 3: 90,077,331 (GRCm39) E889G possibly damaging Het
Or13l2 A G 3: 97,318,207 (GRCm39) F97L probably benign Het
Or14c42-ps1 A G 7: 86,211,081 (GRCm39) Y47C unknown Het
Or2y13 C A 11: 49,414,953 (GRCm39) S134R possibly damaging Het
Or5ac25 A C 16: 59,181,948 (GRCm39) M211R possibly damaging Het
Or5w20 G A 2: 87,727,001 (GRCm39) V153I probably benign Het
Or6k2 C T 1: 173,986,741 (GRCm39) T134I probably benign Het
Or8g4 A T 9: 39,661,816 (GRCm39) M45L probably benign Het
Phc2 A G 4: 128,603,440 (GRCm39) Y190C probably damaging Het
Platr25 T C 13: 62,820,811 (GRCm39) T347A possibly damaging Het
Plec T C 15: 76,059,053 (GRCm39) E3655G probably damaging Het
Plekhg3 A T 12: 76,623,619 (GRCm39) Q954L probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prdm4 G A 10: 85,743,694 (GRCm39) T187I possibly damaging Het
Prg4 T C 1: 150,330,517 (GRCm39) probably benign Het
Prpf18 G A 2: 4,638,258 (GRCm39) R312W probably damaging Het
Rnf213 T A 11: 119,305,374 (GRCm39) V535D probably damaging Het
Rtcb A T 10: 85,791,638 (GRCm39) N39K probably damaging Het
Slc4a3 G A 1: 75,531,341 (GRCm39) probably null Het
Szt2 A C 4: 118,231,487 (GRCm39) probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tfap2e A T 4: 126,615,657 (GRCm39) V259D probably damaging Het
Trav19 A G 14: 54,083,255 (GRCm39) D110G probably damaging Het
Ttc17 A C 2: 94,189,100 (GRCm39) C749W probably damaging Het
Ttc8 A G 12: 98,948,753 (GRCm39) K490E possibly damaging Het
Ube4b A G 4: 149,471,590 (GRCm39) S99P probably damaging Het
Ubqln3 C T 7: 103,791,385 (GRCm39) R235H probably damaging Het
Vmn2r61 A T 7: 41,949,242 (GRCm39) D554V probably damaging Het
Vmn2r70 A T 7: 85,208,194 (GRCm39) V761E probably damaging Het
Vmn2r97 T C 17: 19,167,861 (GRCm39) I705T possibly damaging Het
Wwox G A 8: 115,215,692 (GRCm39) C155Y probably damaging Het
Zfp451 T C 1: 33,842,325 (GRCm39) probably benign Het
Zfp582 C T 7: 6,356,844 (GRCm39) P219L probably 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
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
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 2018-09-06