Incidental Mutation 'R8011:Six2'
ID 616927
Institutional Source Beutler Lab
Gene Symbol Six2
Ensembl Gene ENSMUSG00000024134
Gene Name sine oculis-related homeobox 2
Synonyms
MMRRC Submission 046051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8011 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 85991705-85995702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85995100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 94 (E94G)
Ref Sequence ENSEMBL: ENSMUSP00000024947 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024947] [ENSMUST00000163568]
AlphaFold Q62232
Predicted Effect probably damaging
Transcript: ENSMUST00000024947
AA Change: E94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024947
Gene: ENSMUSG00000024134
AA Change: E94G

DomainStartEndE-ValueType
HOX 125 186 8.72e-18 SMART
low complexity region 228 269 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163568
AA Change: E94G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125871
Gene: ENSMUSG00000024134
AA Change: E94G

DomainStartEndE-ValueType
Pfam:SIX1_SD 9 119 1.5e-52 PFAM
HOX 125 186 8.72e-18 SMART
low complexity region 228 269 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die shortly after birth and exhibit abnormal kidney development. Abnormalities include small kidney, lack of ureteric bud branches throughout the kidney, increased apoptosis and premature and arrested nephron development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C T 9: 124,056,529 (GRCm39) E132K Het
Acss2 T C 2: 155,397,877 (GRCm39) I313T possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Ankrd27 T C 7: 35,316,306 (GRCm39) V524A probably benign Het
Cacna1e T C 1: 154,341,568 (GRCm39) I1209V probably benign Het
Cntn3 A T 6: 102,414,860 (GRCm39) I29N possibly damaging Het
Col5a1 G A 2: 27,870,533 (GRCm39) probably benign Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Edc3 C A 9: 57,620,659 (GRCm39) probably benign Het
Egflam A T 15: 7,276,525 (GRCm39) M547K possibly damaging Het
Fgr T C 4: 132,725,790 (GRCm39) Y400H probably damaging Het
Gaa C T 11: 119,163,762 (GRCm39) P205S probably benign Het
Gpr6 T A 10: 40,946,911 (GRCm39) T224S probably benign Het
Hes3 T C 4: 152,371,938 (GRCm39) probably benign Het
Hydin T C 8: 111,310,541 (GRCm39) F4079S probably damaging Het
Igf2bp2 A T 16: 21,894,849 (GRCm39) I366N probably damaging Het
Kmt2c A G 5: 25,556,232 (GRCm39) V1171A probably damaging Het
Kndc1 T A 7: 139,490,536 (GRCm39) F346Y possibly damaging Het
Lpin2 G A 17: 71,537,370 (GRCm39) G306R probably benign Het
Mok T C 12: 110,781,351 (GRCm39) probably benign Het
Nolc1 T C 19: 46,070,023 (GRCm39) V265A unknown Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or2ah1 T G 2: 85,653,957 (GRCm39) L214R possibly damaging Het
Or4c103 G A 2: 88,513,537 (GRCm39) Q180* probably null Het
Or5j1 A C 2: 86,879,190 (GRCm39) L130R probably damaging Het
Or6b2b A G 1: 92,418,997 (GRCm39) V160A possibly damaging Het
Parp14 G A 16: 35,677,004 (GRCm39) T988I probably benign Het
Pdk1 A T 2: 71,705,796 (GRCm39) Q81H probably benign Het
Plekha6 A G 1: 133,191,544 (GRCm39) T38A probably benign Het
Pou2f1 A G 1: 165,722,472 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,066 (GRCm39) D424G probably null Het
Rnf13 T G 3: 57,714,491 (GRCm39) Y183* probably null Het
Ryr2 A T 13: 11,603,026 (GRCm39) probably null Het
Serpinb7 T A 1: 107,362,487 (GRCm39) S64T possibly damaging Het
Slc44a5 A G 3: 153,953,447 (GRCm39) I276M possibly damaging Het
Smco2 A G 6: 146,769,633 (GRCm39) Y239C probably damaging Het
Ssx2ip T C 3: 146,128,666 (GRCm39) S148P probably damaging Het
Tiam2 T C 17: 3,498,671 (GRCm39) Y816H possibly damaging Het
Tnk2 C T 16: 32,487,183 (GRCm39) R127C probably benign Het
Tpd52l1 T C 10: 31,208,913 (GRCm39) N185S probably benign Het
Try5 T C 6: 41,290,421 (GRCm39) D21G probably benign Het
Vmn2r20 A G 6: 123,373,369 (GRCm39) V491A possibly damaging Het
Vps54 G T 11: 21,225,095 (GRCm39) R197L probably damaging Het
Xkr5 G T 8: 18,998,736 (GRCm39) Y27* probably null Het
Zfp1004 A G 2: 150,034,266 (GRCm39) S196G possibly damaging Het
Zfp626 T A 7: 27,518,140 (GRCm39) C374S possibly damaging Het
Other mutations in Six2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Six2 APN 17 85,995,319 (GRCm39) missense probably damaging 1.00
IGL02452:Six2 APN 17 85,992,806 (GRCm39) missense possibly damaging 0.91
IGL02468:Six2 APN 17 85,992,931 (GRCm39) missense possibly damaging 0.80
PIT4449001:Six2 UTSW 17 85,992,906 (GRCm39) missense probably benign 0.00
PIT4812001:Six2 UTSW 17 85,992,729 (GRCm39) missense possibly damaging 0.92
R2073:Six2 UTSW 17 85,994,933 (GRCm39) missense probably damaging 1.00
R2075:Six2 UTSW 17 85,994,933 (GRCm39) missense probably damaging 1.00
R2915:Six2 UTSW 17 85,992,616 (GRCm39) missense probably damaging 1.00
R3830:Six2 UTSW 17 85,992,615 (GRCm39) missense probably damaging 1.00
R5834:Six2 UTSW 17 85,995,092 (GRCm39) missense probably damaging 0.96
R7555:Six2 UTSW 17 85,995,135 (GRCm39) missense probably damaging 1.00
R7723:Six2 UTSW 17 85,995,103 (GRCm39) missense probably benign 0.06
R9150:Six2 UTSW 17 85,992,763 (GRCm39) missense probably benign
R9328:Six2 UTSW 17 85,995,196 (GRCm39) missense possibly damaging 0.66
R9700:Six2 UTSW 17 85,994,867 (GRCm39) missense probably damaging 1.00
Z1176:Six2 UTSW 17 85,992,884 (GRCm39) missense probably benign 0.26
Z1177:Six2 UTSW 17 85,995,053 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTTGAACCAGTTGCTGACTTGC -3'
(R):5'- GGATCGTTGTGACTCAGGAG -3'

Sequencing Primer
(F):5'- GCTTCTCTCGTGGCGAC -3'
(R):5'- CTTCACGCAGGAGCAAGTG -3'
Posted On 2020-01-23