Incidental Mutation 'IGL02468:Six2'
ID294638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Six2
Ensembl Gene ENSMUSG00000024134
Gene Namesine oculis-related homeobox 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02468
Quality Score
Status
Chromosome17
Chromosomal Location85684277-85688274 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 85685503 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 191 (E191K)
Ref Sequence ENSEMBL: ENSMUSP00000125871 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024947] [ENSMUST00000163568]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024947
AA Change: E191K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024947
Gene: ENSMUSG00000024134
AA Change: E191K

DomainStartEndE-ValueType
HOX 125 186 8.72e-18 SMART
low complexity region 228 269 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163568
AA Change: E191K

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125871
Gene: ENSMUSG00000024134
AA Change: E191K

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
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik G T 10: 81,365,729 L20I possibly damaging Het
Adgrl2 A T 3: 148,890,480 D73E probably damaging Het
Aspm A G 1: 139,480,950 Y2525C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep89 T G 7: 35,403,152 S97A probably benign Het
Clec16a T A 16: 10,741,878 I1005N probably benign Het
Cog5 T C 12: 31,837,358 probably null Het
Crybg2 T C 4: 134,082,587 S1217P probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cytip A T 2: 58,134,013 M265K probably benign Het
Ddx60 T G 8: 61,958,642 S509R probably damaging Het
Fat4 T C 3: 38,983,046 S3616P probably benign Het
Galnt9 T C 5: 110,614,223 F409S possibly damaging Het
Hrh2 T C 13: 54,214,809 V268A probably benign Het
Ifi47 T A 11: 49,095,983 S192R probably damaging Het
Igdcc4 T C 9: 65,126,832 Y596H probably damaging Het
Lamb2 T C 9: 108,487,149 C1096R probably damaging Het
March1 A G 8: 66,418,911 Q109R probably damaging Het
Olfr1389 A T 11: 49,431,114 I213F probably damaging Het
Olfr39 T C 9: 20,286,278 L201P probably damaging Het
Olfr851 G T 9: 19,497,177 C143F probably benign Het
Patl1 T A 19: 11,932,210 V500D probably damaging Het
Pbx3 A T 2: 34,224,577 L57H probably damaging Het
Pcdhb1 T C 18: 37,266,178 V394A probably benign Het
Pogz A G 3: 94,879,083 N994S probably damaging Het
Prom1 T A 5: 44,029,698 M406L probably benign Het
Psg26 T C 7: 18,478,462 S323G probably damaging Het
Ptprm T C 17: 66,814,509 T854A probably benign Het
Puf60 A C 15: 76,075,836 probably benign Het
Tbc1d17 A G 7: 44,848,329 F40L probably benign Het
Thsd7a A G 6: 12,318,171 V1600A probably damaging Het
Tm4sf19 C A 16: 32,407,715 probably benign Het
Tnfrsf1a A G 6: 125,357,861 T33A probably benign Het
Troap A T 15: 99,075,361 T3S possibly damaging Het
Wdfy4 T A 14: 32,966,432 I3074L probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Six2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Six2 APN 17 85687891 missense probably damaging 1.00
IGL02452:Six2 APN 17 85685378 missense possibly damaging 0.91
PIT4449001:Six2 UTSW 17 85685478 missense probably benign 0.00
PIT4812001:Six2 UTSW 17 85685301 missense possibly damaging 0.92
R2073:Six2 UTSW 17 85687505 missense probably damaging 1.00
R2075:Six2 UTSW 17 85687505 missense probably damaging 1.00
R2915:Six2 UTSW 17 85685188 missense probably damaging 1.00
R3830:Six2 UTSW 17 85685187 missense probably damaging 1.00
R5834:Six2 UTSW 17 85687664 missense probably damaging 0.96
R7555:Six2 UTSW 17 85687707 missense probably damaging 1.00
R7723:Six2 UTSW 17 85687675 missense probably benign 0.06
Posted On2015-04-16