Incidental Mutation 'R6271:Otx1'
ID 507345
Institutional Source Beutler Lab
Gene Symbol Otx1
Ensembl Gene ENSMUSG00000005917
Gene Name orthodenticle homeobox 1
Synonyms jv, A730044F23Rik
MMRRC Submission 044379-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R6271 (G1)
Quality Score 124.008
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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
Atp12a A G 14: 56,615,879 (GRCm39) D547G probably benign Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign 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
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'- TTACTAGGGGTTTGCGCAGAAG -3'

Sequencing Primer
(F):5'- TCAGAGAGGACGCTGCTG -3'
(R):5'- TTTGCGCAGAAGGATGGG -3'
Posted On 2018-03-15