Incidental Mutation 'BB013:Six1'
ID 642770
Institutional Source Beutler Lab
Gene Symbol Six1
Ensembl Gene ENSMUSG00000051367
Gene Name sine oculis-related homeobox 1
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # BB013
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 73088601-73093486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73090583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 194 (N194S)
Ref Sequence ENSEMBL: ENSMUSP00000059026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050029]
AlphaFold Q62231
Predicted Effect probably benign
Transcript: ENSMUST00000050029
AA Change: N194S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059026
Gene: ENSMUSG00000051367
AA Change: N194S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
BC016579 C A 16: 45,449,825 (GRCm39) D198Y probably damaging Het
Cep170 A G 1: 176,588,979 (GRCm39) S549P probably damaging Het
Cnih3 T C 1: 181,277,566 (GRCm39) L96P probably damaging Het
Cnn2 T A 10: 79,829,160 (GRCm39) L168Q probably damaging Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Cnot10 A G 9: 114,446,883 (GRCm39) C398R probably damaging Het
Dcaf4 C A 12: 83,580,703 (GRCm39) Y212* probably null Het
Dmxl2 T C 9: 54,335,326 (GRCm39) T665A probably benign Het
Dnmt1 C A 9: 20,818,855 (GRCm39) A1609S unknown Het
Dzip1 T C 14: 119,120,911 (GRCm39) D682G probably benign Het
Fam76a A G 4: 132,629,405 (GRCm39) L249P probably damaging Het
Fgf10 T C 13: 118,925,752 (GRCm39) M177T probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Itln1 G A 1: 171,359,261 (GRCm39) T73I probably benign Het
Jkamp T C 12: 72,141,590 (GRCm39) Y197H probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lcor T C 19: 41,571,008 (GRCm39) F67S probably benign Het
Lmf2 G A 15: 89,236,624 (GRCm39) P514L probably damaging Het
Lmntd2 G T 7: 140,790,258 (GRCm39) P610Q probably damaging Het
Map3k3 T C 11: 106,036,548 (GRCm39) S225P probably damaging Het
Mbd5 T C 2: 49,146,335 (GRCm39) Y182H probably damaging Het
Mki67 A G 7: 135,298,869 (GRCm39) V2055A possibly damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh8 C T 11: 67,169,732 (GRCm39) P17L possibly damaging Het
Myt1l T A 12: 29,861,651 (GRCm39) D144E unknown Het
Nfatc1 T C 18: 80,740,881 (GRCm39) Y373C probably damaging Het
Pacs2 C T 12: 113,024,372 (GRCm39) L418F probably damaging Het
Paxip1 A G 5: 27,996,207 (GRCm39) I24T unknown Het
Pdcl C T 2: 37,242,249 (GRCm39) G167E probably damaging Het
Pdcl A C 2: 37,242,251 (GRCm39) S166R probably damaging Het
Qsox1 C T 1: 155,688,533 (GRCm39) G5S unknown Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sass6 T A 3: 116,422,419 (GRCm39) S641T possibly damaging Het
Tagap T C 17: 8,145,770 (GRCm39) probably null Het
Tiparp T C 3: 65,460,946 (GRCm39) V645A possibly damaging Het
Tm2d2 T C 8: 25,510,480 (GRCm39) V113A probably damaging Het
Tmprss6 C A 15: 78,337,050 (GRCm39) R352L probably benign Het
Tslp A G 18: 32,950,246 (GRCm39) E105G possibly damaging Het
Ttc41 A G 10: 86,611,911 (GRCm39) E1093G probably benign Het
Ush2a G A 1: 188,460,797 (GRCm39) R2686H probably benign Het
Usp54 A T 14: 20,627,036 (GRCm39) Y541N probably damaging Het
Vmn2r125 A G 4: 156,702,988 (GRCm39) D122G probably damaging Het
Other mutations in Six1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03177:Six1 APN 12 73,090,514 (GRCm39) missense possibly damaging 0.68
BB003:Six1 UTSW 12 73,090,583 (GRCm39) missense probably benign
R0387:Six1 UTSW 12 73,092,815 (GRCm39) missense probably damaging 1.00
R4581:Six1 UTSW 12 73,092,708 (GRCm39) missense probably benign 0.04
R5677:Six1 UTSW 12 73,093,058 (GRCm39) missense possibly damaging 0.84
R7926:Six1 UTSW 12 73,090,583 (GRCm39) missense probably benign
R8097:Six1 UTSW 12 73,090,524 (GRCm39) missense possibly damaging 0.94
R9405:Six1 UTSW 12 73,093,095 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTGTCCCCTAGATTGCTGC -3'
(R):5'- AGGAACTATCTCCCAGCAGC -3'

Sequencing Primer
(F):5'- CCCCTAGATTGCTGCGGTTG -3'
(R):5'- TCCCCCATGACCCTTGGG -3'
Posted On 2020-08-01