Incidental Mutation 'R5391:Six6'
ID 425867
Institutional Source Beutler Lab
Gene Symbol Six6
Ensembl Gene ENSMUSG00000021099
Gene Name sine oculis-related homeobox 6
Synonyms Six9, Optx2
MMRRC Submission 042963-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5391 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 72986666-72991673 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 72988475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 216 (L216*)
Ref Sequence ENSEMBL: ENSMUSP00000021519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021519] [ENSMUST00000130635] [ENSMUST00000132067] [ENSMUST00000136075]
AlphaFold Q9QZ28
Predicted Effect probably null
Transcript: ENSMUST00000021519
AA Change: L216*
SMART Domains Protein: ENSMUSP00000021519
Gene: ENSMUSG00000021099
AA Change: L216*

DomainStartEndE-ValueType
Pfam:SIX1_SD 9 123 4.3e-50 PFAM
HOX 129 190 5.5e-15 SMART
low complexity region 219 242 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130635
Predicted Effect probably benign
Transcript: ENSMUST00000132067
Predicted Effect probably benign
Transcript: ENSMUST00000136075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223260
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 12 and is thought to be involved in eye development. The encoded transcription factor regulates early progenitor cell proliferation during mammalian retinogenesis and pituitary development. Mice lacking this gene exhibit abnormal development of the suprachiasmatic nucleus and circadian rhythms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display retinal and pituitary hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,855,481 (GRCm39) M38I probably null Het
Actl7a A G 4: 56,743,661 (GRCm39) T63A probably benign Het
Amfr G A 8: 94,702,676 (GRCm39) P497S probably damaging Het
Ankrd33b T C 15: 31,325,352 (GRCm39) I122V probably damaging Het
Asap1 G T 15: 63,965,901 (GRCm39) T1011K possibly damaging Het
Cbfa2t3 G A 8: 123,360,134 (GRCm39) R506* probably null Het
Ccs C G 19: 4,883,510 (GRCm39) C96S probably benign Het
Cpt1a A G 19: 3,399,260 (GRCm39) D20G probably damaging Het
Ctdspl2 G A 2: 121,834,629 (GRCm39) probably null Het
Dhx57 T C 17: 80,582,510 (GRCm39) Y365C probably damaging Het
Dnah3 C T 7: 119,689,299 (GRCm39) M38I probably benign Het
Dnajc6 T C 4: 101,485,355 (GRCm39) probably null Het
Elac2 A G 11: 64,885,120 (GRCm39) S450G probably benign Het
Gdf9 T C 11: 53,324,624 (GRCm39) V131A probably benign Het
Il12rb2 T C 6: 67,269,404 (GRCm39) N803S probably benign Het
Itgb4 T A 11: 115,875,894 (GRCm39) M477K probably benign Het
Itgb8 A C 12: 119,134,476 (GRCm39) C530W probably damaging Het
Krt78 C A 15: 101,860,263 (GRCm39) E218* probably null Het
Lpar1 A G 4: 58,486,902 (GRCm39) L105P probably damaging Het
Megf8 G A 7: 25,039,714 (GRCm39) G936D possibly damaging Het
Mov10 G A 3: 104,709,849 (GRCm39) H346Y probably benign Het
Nfia A G 4: 97,671,538 (GRCm39) I83V probably damaging Het
Or5b101 G T 19: 13,005,150 (GRCm39) A181E probably damaging Het
Or6d15 T C 6: 116,559,808 (GRCm39) Y33C probably damaging Het
Pcdhgb6 T G 18: 37,875,640 (GRCm39) I116S probably damaging Het
Pdcd6ip G T 9: 113,520,586 (GRCm39) Q133K probably damaging Het
Phkb A G 8: 86,744,097 (GRCm39) D582G probably damaging Het
Pik3cd A T 4: 149,743,588 (GRCm39) V207E probably damaging Het
Ptov1 T C 7: 44,513,008 (GRCm39) Q397R probably damaging Het
Rangap1 A G 15: 81,590,647 (GRCm39) F482L probably benign Het
Rapgef1 T A 2: 29,627,977 (GRCm39) N1052K probably damaging Het
Rasl12 G T 9: 65,305,949 (GRCm39) A35S probably damaging Het
Rnf169 A T 7: 99,584,367 (GRCm39) probably null Het
Sec16a A G 2: 26,330,044 (GRCm39) V657A possibly damaging Het
Sin3a G A 9: 57,012,957 (GRCm39) R612H probably damaging Het
Tbce T C 13: 14,180,550 (GRCm39) I293M probably damaging Het
Tektl1 G A 10: 78,588,688 (GRCm39) Q41* probably null Het
Tmem176a T C 6: 48,821,630 (GRCm39) L204P probably damaging Het
Tmem87a A G 2: 120,193,358 (GRCm39) probably null Het
Tns1 A T 1: 74,029,568 (GRCm39) probably null Het
Usf3 T A 16: 44,037,826 (GRCm39) S769T probably benign Het
Vmn2r82 A G 10: 79,192,491 (GRCm39) T23A probably null Het
Vps26a A G 10: 62,292,526 (GRCm39) *328Q probably null Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wwc2 A T 8: 48,316,906 (GRCm39) I729K unknown Het
Zbtb44 A G 9: 30,964,601 (GRCm39) probably null Het
Zfp800 A T 6: 28,242,992 (GRCm39) S658T probably damaging Het
Zfp825 T C 13: 74,628,665 (GRCm39) T284A possibly damaging Het
Zfp935 G T 13: 62,602,632 (GRCm39) Y189* probably null Het
Zkscan1 T A 5: 138,095,363 (GRCm39) H203Q probably benign Het
Zkscan14 T C 5: 145,132,604 (GRCm39) D309G probably benign Het
Other mutations in Six6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01560:Six6 APN 12 72,986,831 (GRCm39) start codon destroyed probably null 0.86
R1686:Six6 UTSW 12 72,988,451 (GRCm39) missense probably benign
R1920:Six6 UTSW 12 72,988,538 (GRCm39) missense probably damaging 0.99
R5395:Six6 UTSW 12 72,988,475 (GRCm39) nonsense probably null
R6879:Six6 UTSW 12 72,987,298 (GRCm39) missense probably benign 0.05
R7890:Six6 UTSW 12 72,987,317 (GRCm39) missense probably benign 0.08
R8077:Six6 UTSW 12 72,987,100 (GRCm39) missense probably damaging 1.00
R8081:Six6 UTSW 12 72,986,875 (GRCm39) missense probably damaging 0.98
R8181:Six6 UTSW 12 72,986,906 (GRCm39) missense probably damaging 0.99
R9027:Six6 UTSW 12 72,986,935 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCTTGTCAAGGTCTGAATAAGAGTC -3'
(R):5'- TTCTGCCAGCGCCGTATTTG -3'

Sequencing Primer
(F):5'- TCTGAATAAGAGTCTTAACAAGGAGC -3'
(R):5'- AGCGCCGTATTTGCTGGTC -3'
Posted On 2016-08-04