Incidental Mutation 'IGL03096:Six3'
ID418582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Six3
Ensembl Gene ENSMUSG00000038805
Gene Namesine oculis-related homeobox 3
SynonymsE130112M24Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03096
Quality Score
Status
Chromosome17
Chromosomal Location85613608-85629302 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85621937 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 233 (N233S)
Ref Sequence ENSEMBL: ENSMUSP00000125169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162695] [ENSMUST00000175898] [ENSMUST00000176081]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159030
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161688
Predicted Effect possibly damaging
Transcript: ENSMUST00000162695
AA Change: N233S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125169
Gene: ENSMUSG00000038805
AA Change: N233S

DomainStartEndE-ValueType
low complexity region 30 71 N/A INTRINSIC
HOX 208 269 1.26e-14 SMART
low complexity region 294 310 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175898
AA Change: N233S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135677
Gene: ENSMUSG00000038805
AA Change: N233S

DomainStartEndE-ValueType
low complexity region 30 71 N/A INTRINSIC
HOX 208 269 1.26e-14 SMART
low complexity region 294 310 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175913
Predicted Effect possibly damaging
Transcript: ENSMUST00000176081
AA Change: N233S

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135312
Gene: ENSMUSG00000038805
AA Change: N233S

DomainStartEndE-ValueType
low complexity region 51 92 N/A INTRINSIC
Pfam:SIX1_SD 109 223 6e-47 PFAM
HOX 229 290 6.5e-17 SMART
low complexity region 315 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177220
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183495
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188560
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions of this gene die at birth with anterior structures of the head and brain undeveloped. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,374,179 F149S probably damaging Het
Ablim2 A T 5: 35,883,399 K103* probably null Het
Anapc4 C T 5: 52,865,929 T704I possibly damaging Het
Ccar1 A T 10: 62,764,333 D606E probably benign Het
Ces1d T C 8: 93,178,042 I357V probably benign Het
Col7a1 C A 9: 108,955,788 P228H unknown Het
Dock4 A G 12: 40,748,001 I875V probably benign Het
Fndc3a A T 14: 72,599,119 S67T probably damaging Het
Fras1 A G 5: 96,764,901 T3355A probably damaging Het
Gm13103 A G 4: 143,850,915 D89G probably benign Het
Gtf3a G A 5: 146,953,953 R248Q probably damaging Het
Hcrtr2 T A 9: 76,254,626 M161L probably benign Het
Il27ra G T 8: 84,031,532 L530M probably damaging Het
Kcnj15 A G 16: 95,296,434 E305G probably damaging Het
Map3k6 A T 4: 133,251,345 K1086* probably null Het
Neb T C 2: 52,249,472 I3044V possibly damaging Het
Ntng1 A T 3: 110,135,349 S54T probably benign Het
Olfr784 T C 10: 129,388,449 V272A probably damaging Het
Pah T C 10: 87,538,242 probably null Het
Pex3 A T 10: 13,534,663 probably benign Het
Plcg1 T C 2: 160,757,206 probably benign Het
Prl7c1 A T 13: 27,773,706 D250E probably damaging Het
Prrc2c C T 1: 162,702,359 G144S unknown Het
Rad51c A G 11: 87,388,646 L304P probably damaging Het
Rnf20 A C 4: 49,638,615 probably benign Het
Slc2a9 T A 5: 38,351,229 I476F probably damaging Het
Trps1 A C 15: 50,846,479 H154Q probably benign Het
Uvssa T C 5: 33,410,924 V552A probably benign Het
Vmn2r118 T G 17: 55,607,996 N550T probably damaging Het
Vmn2r16 T A 5: 109,339,885 I208K probably damaging Het
Other mutations in Six3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03397:Six3 APN 17 85621646 missense probably damaging 1.00
FR4304:Six3 UTSW 17 85621368 small insertion probably benign
FR4340:Six3 UTSW 17 85621356 small insertion probably benign
FR4449:Six3 UTSW 17 85621362 small insertion probably benign
FR4548:Six3 UTSW 17 85621363 small insertion probably benign
FR4589:Six3 UTSW 17 85621365 small insertion probably benign
FR4737:Six3 UTSW 17 85621357 small insertion probably benign
FR4737:Six3 UTSW 17 85621358 small insertion probably benign
FR4737:Six3 UTSW 17 85621362 small insertion probably benign
FR4737:Six3 UTSW 17 85621363 small insertion probably benign
FR4737:Six3 UTSW 17 85621365 small insertion probably benign
FR4737:Six3 UTSW 17 85621368 small insertion probably benign
FR4976:Six3 UTSW 17 85621358 small insertion probably benign
FR4976:Six3 UTSW 17 85621371 small insertion probably benign
R0238:Six3 UTSW 17 85621390 missense probably damaging 1.00
R1264:Six3 UTSW 17 85621857 missense probably damaging 0.96
R2903:Six3 UTSW 17 85623855 missense probably damaging 0.96
R2916:Six3 UTSW 17 85621633 missense probably benign 0.25
R4994:Six3 UTSW 17 85621292 missense possibly damaging 0.91
R5393:Six3 UTSW 17 85623842 missense possibly damaging 0.93
R6524:Six3 UTSW 17 85621970 missense probably damaging 1.00
RF003:Six3 UTSW 17 85621370 small insertion probably benign
RF010:Six3 UTSW 17 85621355 small insertion probably benign
RF011:Six3 UTSW 17 85621368 small insertion probably benign
RF012:Six3 UTSW 17 85621368 small insertion probably benign
RF014:Six3 UTSW 17 85621356 small insertion probably benign
RF015:Six3 UTSW 17 85621370 small insertion probably benign
RF022:Six3 UTSW 17 85621356 small insertion probably benign
RF054:Six3 UTSW 17 85621355 small insertion probably benign
Posted On2016-08-02