Incidental Mutation 'R5941:Otx1'
ID 460281
Institutional Source Beutler Lab
Gene Symbol Otx1
Ensembl Gene ENSMUSG00000005917
Gene Name orthodenticle homeobox 1
Synonyms jv, A730044F23Rik
MMRRC Submission 044133-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.800) question?
Stock # R5941 (G1)
Quality Score 156
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: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 97% (95/98)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,190,321 (GRCm39) D70E probably damaging Het
Adamts14 C T 10: 61,057,674 (GRCm39) G561R probably damaging Het
Alpk3 A T 7: 80,728,401 (GRCm39) K510N probably damaging Het
Ap3b1 A G 13: 94,576,781 (GRCm39) N269D probably benign Het
Ap3b1 T C 13: 94,619,773 (GRCm39) S144P probably damaging Het
Apba2 C A 7: 64,395,464 (GRCm39) Q635K probably benign Het
Aspg C T 12: 112,079,519 (GRCm39) T99I probably benign Het
Atp7b A G 8: 22,487,512 (GRCm39) V1179A probably damaging Het
Bbs12 T C 3: 37,374,197 (GRCm39) V215A probably damaging Het
Bcl2l11 C A 2: 127,969,703 (GRCm39) probably benign Het
Bglap3 T G 3: 88,283,653 (GRCm39) probably benign Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cdh26 C T 2: 178,123,443 (GRCm39) Q662* probably null Het
Cftr T A 6: 18,313,645 (GRCm39) F1290I probably damaging Het
Clip3 G A 7: 29,991,731 (GRCm39) E36K probably damaging Het
Cog2 A G 8: 125,272,825 (GRCm39) I541V probably benign Het
Cpt1b A T 15: 89,309,417 (GRCm39) W39R probably damaging Het
Csmd1 A G 8: 15,982,471 (GRCm39) V2732A probably damaging Het
Dlec1 A G 9: 118,955,380 (GRCm39) D688G probably damaging Het
Dnah12 A G 14: 26,428,022 (GRCm39) E216G probably benign Het
Dnah7b C A 1: 46,226,450 (GRCm39) L1294I probably damaging Het
Duox1 T A 2: 122,174,637 (GRCm39) L1265Q probably damaging Het
Fam91a1 T A 15: 58,303,166 (GRCm39) D358E probably benign Het
Fat3 A C 9: 15,910,797 (GRCm39) I1735S probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gabrr1 T A 4: 33,162,676 (GRCm39) M414K probably benign Het
Gm21915 A C 9: 40,581,995 (GRCm39) E29D possibly damaging Het
Gm9955 G A 18: 24,842,320 (GRCm39) probably benign Het
Gpat2 C A 2: 127,270,195 (GRCm39) D69E possibly damaging Het
Grin2b T G 6: 135,713,371 (GRCm39) I837L probably damaging Het
Gucy2g T C 19: 55,203,563 (GRCm39) D745G probably damaging Het
H2-Q1 A G 17: 35,540,332 (GRCm39) Y139C probably damaging Het
Ints2 G C 11: 86,141,798 (GRCm39) N216K probably benign Het
Jmy G A 13: 93,635,333 (GRCm39) P161L probably benign Het
Kctd11 G A 11: 69,770,799 (GRCm39) R80W possibly damaging Het
Kif7 A G 7: 79,360,880 (GRCm39) probably benign Het
Kifc1 C T 17: 34,102,059 (GRCm39) probably benign Het
Lcor G A 19: 41,574,839 (GRCm39) R1198Q probably damaging Het
Mir412 C A 12: 109,709,733 (GRCm39) noncoding transcript Het
Mknk1 T A 4: 115,733,834 (GRCm39) probably benign Het
Mmp16 A G 4: 18,054,354 (GRCm39) probably benign Het
Mmp7 A G 9: 7,697,646 (GRCm39) H227R probably damaging Het
Myh4 A C 11: 67,150,126 (GRCm39) D1861A probably damaging Het
Nup205 T C 6: 35,209,343 (GRCm39) L1550P probably damaging Het
Or10g1 C T 14: 52,647,525 (GRCm39) G268D probably benign Het
Or2a56 G T 6: 42,932,650 (GRCm39) A73S possibly damaging Het
Or4c113 T A 2: 88,884,963 (GRCm39) H269L probably benign Het
Or4c58 T A 2: 89,674,859 (GRCm39) I153F probably benign Het
Or51af1 A G 7: 103,141,927 (GRCm39) S53P possibly damaging Het
Pafah1b2 A T 9: 45,887,405 (GRCm39) C35* probably null Het
Pappa T A 4: 65,232,830 (GRCm39) F1323Y possibly damaging Het
Phtf2 A T 5: 20,979,071 (GRCm39) F519Y probably damaging Het
Pigk T C 3: 152,472,150 (GRCm39) I354T possibly damaging Het
Plekha7 T C 7: 115,724,040 (GRCm39) D1265G possibly damaging Het
Prss12 A G 3: 123,299,150 (GRCm39) R641G probably benign Het
Prss28 A G 17: 25,528,717 (GRCm39) Y53C probably damaging Het
Rabgap1 G T 2: 37,451,908 (GRCm39) C936F possibly damaging Het
Rap1a T C 3: 105,639,385 (GRCm39) I91M possibly damaging Het
Rap1gap2 A T 11: 74,283,063 (GRCm39) M679K probably damaging Het
Rapgef5 T A 12: 117,692,473 (GRCm39) L352I probably damaging Het
Rhbdl3 G A 11: 80,222,715 (GRCm39) V255M probably benign Het
Rhot1 T C 11: 80,141,996 (GRCm39) probably benign Het
Rita1 A C 5: 120,747,626 (GRCm39) V224G probably benign Het
Ryr2 T A 13: 11,702,788 (GRCm39) Y2900F probably damaging Het
Scaf11 A C 15: 96,318,189 (GRCm39) H458Q probably damaging Het
Scamp4 T A 10: 80,448,255 (GRCm39) S159T probably benign Het
Setd5 T A 6: 113,105,451 (GRCm39) Y828N probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Sipa1l2 A G 8: 126,200,275 (GRCm39) S684P probably damaging Het
Stard9 A T 2: 120,544,039 (GRCm39) I4446F probably damaging Het
Sult1c2 T C 17: 54,138,926 (GRCm39) D217G probably benign Het
Supt16 C A 14: 52,419,653 (GRCm39) K148N probably benign Het
Syne3 G A 12: 104,913,251 (GRCm39) S570L probably benign Het
Tcf3 G T 10: 80,248,878 (GRCm39) D534E probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trbv3 T C 6: 41,025,335 (GRCm39) I3T probably benign Het
Trbv4 T A 6: 41,036,563 (GRCm39) Y29* probably null Het
Ttl A G 2: 128,917,904 (GRCm39) N122S probably benign Het
Txndc11 T C 16: 10,892,935 (GRCm39) T932A probably benign Het
Ube2e2 G A 14: 18,586,910 (GRCm38) A150V probably damaging Het
Ube2ql1 T C 13: 69,887,459 (GRCm39) M1V probably null Het
Uqcrc1 A G 9: 108,776,554 (GRCm39) probably benign Het
Utrn T C 10: 12,362,227 (GRCm39) D2702G probably damaging Het
Vcan T A 13: 89,840,810 (GRCm39) D618V probably damaging Het
Vdac3-ps1 A G 13: 18,205,787 (GRCm39) noncoding transcript Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zap70 G A 1: 36,810,030 (GRCm39) V47M probably damaging Het
Zfp770 A G 2: 114,028,027 (GRCm39) M14T possibly damaging Het
Zup1 C T 10: 33,825,458 (GRCm39) G8D 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
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 2017-02-28