Incidental Mutation 'R6879:Six6'
ID 536569
Institutional Source Beutler Lab
Gene Symbol Six6
Ensembl Gene ENSMUSG00000021099
Gene Name sine oculis-related homeobox 6
Synonyms Six9, Optx2
MMRRC Submission 044975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6879 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 72986666-72991673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72987298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 157 (K157E)
Ref Sequence ENSEMBL: ENSMUSP00000021519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021519] [ENSMUST00000130635] [ENSMUST00000132067] [ENSMUST00000136075]
AlphaFold Q9QZ28
Predicted Effect probably benign
Transcript: ENSMUST00000021519
AA Change: K157E

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021519
Gene: ENSMUSG00000021099
AA Change: K157E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (42/42)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat3 A G 10: 80,442,621 (GRCm39) D153G probably damaging Het
Agap1 A T 1: 89,694,177 (GRCm39) I492F probably benign Het
Arhgap31 G A 16: 38,422,676 (GRCm39) T1130I probably benign Het
Atg2a T A 19: 6,301,882 (GRCm39) C923S possibly damaging Het
B3gnt8 C A 7: 25,328,277 (GRCm39) Q236K probably benign Het
Bptf T G 11: 106,933,516 (GRCm39) I261L probably benign Het
Cacna1s T C 1: 136,043,697 (GRCm39) F1592S probably benign Het
Catspere2 A T 1: 177,926,338 (GRCm39) T335S possibly damaging Het
Cops7a A T 6: 124,935,748 (GRCm39) probably null Het
Defb10 A G 8: 22,351,898 (GRCm39) I48V probably benign Het
Gabrg3 A C 7: 57,031,387 (GRCm39) L51R probably damaging Het
Gins2 G A 8: 121,312,850 (GRCm39) T96M probably damaging Het
Gm11568 A G 11: 99,749,053 (GRCm39) Q86R unknown Het
Il33 T C 19: 29,936,362 (GRCm39) V224A probably damaging Het
Kcnh3 C A 15: 99,136,048 (GRCm39) Q682K probably damaging Het
Kif19a A G 11: 114,672,159 (GRCm39) I249V probably benign Het
Kif26a T C 12: 112,144,087 (GRCm39) V1447A probably benign Het
Klhdc10 T A 6: 30,449,589 (GRCm39) M217K probably damaging Het
Mcc T C 18: 44,945,179 (GRCm39) S18G unknown Het
Mical1 A T 10: 41,360,515 (GRCm39) Q651H probably damaging Het
Mpdz G A 4: 81,266,893 (GRCm39) T340I possibly damaging Het
Or5b95 T C 19: 12,658,135 (GRCm39) I221T probably benign Het
Or6c202 T G 10: 128,996,848 (GRCm39) K2Q probably benign Het
Pira12 A T 7: 3,899,961 (GRCm39) S214T probably benign Het
Plekha6 A T 1: 133,187,793 (GRCm39) M105L possibly damaging Het
Ppp4r4 T A 12: 103,518,179 (GRCm39) probably null Het
Samd12 T C 15: 53,521,826 (GRCm39) N128S probably benign Het
Slc13a3 C A 2: 165,272,221 (GRCm39) G274V probably damaging Het
Slc25a54 T A 3: 109,020,150 (GRCm39) V388E possibly damaging Het
Smad2 A G 18: 76,395,725 (GRCm39) T55A possibly damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spats2 T C 15: 99,071,293 (GRCm39) V39A probably damaging Het
Stk32b A G 5: 37,647,867 (GRCm39) I167T possibly damaging Het
Taf1b T A 12: 24,550,516 (GRCm39) C34S possibly damaging Het
Tex2 T C 11: 106,424,836 (GRCm39) E812G unknown Het
Tlcd2 T A 11: 75,360,514 (GRCm39) W186R probably damaging Het
Txn2 G A 15: 77,803,922 (GRCm39) probably benign Het
Uggt2 T C 14: 119,239,271 (GRCm39) K1387R probably benign Het
Unc79 T A 12: 103,115,046 (GRCm39) probably null Het
Usp21 T C 1: 171,110,077 (GRCm39) D538G probably damaging Het
Zfp109 C T 7: 23,928,615 (GRCm39) E265K probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging 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
R5391:Six6 UTSW 12 72,988,475 (GRCm39) nonsense probably null
R5395:Six6 UTSW 12 72,988,475 (GRCm39) nonsense probably null
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'- TCGAAGCGCATTACCAGGAG -3'
(R):5'- AGCTCCCTTTGAATTTGGGTCC -3'

Sequencing Primer
(F):5'- CGCATTACCAGGAGGCAGAG -3'
(R):5'- CCTTTGAATTTGGGTCCCTGGAC -3'
Posted On 2018-10-18