Incidental Mutation 'IGL03177:Six1'
ID412029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Six1
Ensembl Gene ENSMUSG00000051367
Gene Namesine oculis-related homeobox 1
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.850) question?
Stock #IGL03177
Quality Score
Status
Chromosome12
Chromosomal Location73040015-73053887 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73043740 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 217 (E217G)
Ref Sequence ENSEMBL: ENSMUSP00000059026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050029]
Predicted Effect possibly damaging
Transcript: ENSMUST00000050029
AA Change: E217G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059026
Gene: ENSMUSG00000051367
AA Change: E217G

DomainStartEndE-ValueType
Pfam:SIX1_SD 9 119 5e-52 PFAM
HOX 125 186 1.32e-17 SMART
low complexity region 214 226 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176310
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is 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 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene causes perinatal lethality associated with severe muscle hypoplasia, rib defects, absence of kidneys and thymus, craniofacial anomalies, as well as defects in neurogenesis and ear, nasal, and gland development. Heterozygotes may show variable hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Parva T A 7: 112,572,933 probably benign Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Six1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB003:Six1 UTSW 12 73043809 missense probably benign
BB013:Six1 UTSW 12 73043809 missense probably benign
R0387:Six1 UTSW 12 73046041 missense probably damaging 1.00
R4581:Six1 UTSW 12 73045934 missense probably benign 0.04
R5677:Six1 UTSW 12 73046284 missense possibly damaging 0.84
R7926:Six1 UTSW 12 73043809 missense probably benign
R8089:Six1 UTSW 12 73046439 start gained probably benign
R8097:Six1 UTSW 12 73043750 missense possibly damaging 0.94
Posted On2016-08-02