Incidental Mutation 'IGL01979:Sept3'
ID181797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept3
Ensembl Gene ENSMUSG00000022456
Gene Nameseptin 3
SynonymsB530002E20Rik, Sep3, 3110018K01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL01979
Quality Score
Status
Chromosome15
Chromosomal Location82274893-82294574 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82284392 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 132 (Y132C)
Ref Sequence ENSEMBL: ENSMUSP00000112124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023095] [ENSMUST00000116423] [ENSMUST00000230365] [ENSMUST00000230418] [ENSMUST00000230507]
Predicted Effect probably damaging
Transcript: ENSMUST00000023095
AA Change: Y132C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: Y132C

DomainStartEndE-ValueType
Pfam:DUF258 27 143 9.1e-9 PFAM
Pfam:Septin 45 322 8.9e-117 PFAM
Pfam:AIG1 49 145 2.6e-7 PFAM
Pfam:MMR_HSR1 50 220 2.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116423
AA Change: Y132C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: Y132C

DomainStartEndE-ValueType
Pfam:Septin 45 322 1.2e-116 PFAM
Pfam:MMR_HSR1 50 195 3.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229067
Predicted Effect possibly damaging
Transcript: ENSMUST00000230365
AA Change: Y132C

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000230418
AA Change: Y27C

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000230507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230799
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 belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930435E12Rik A C 16: 38,827,893 S285A possibly damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Ap3b1 T A 13: 94,448,463 L394* probably null Het
Cdk2ap1 C T 5: 124,348,709 V57M probably damaging Het
Csnk2b T A 17: 35,118,016 N65I possibly damaging Het
Dennd4a G A 9: 64,894,409 E945K probably benign Het
Eif2b2 A G 12: 85,219,834 D59G probably benign Het
Ero1l A T 14: 45,287,744 N441K probably damaging Het
Fam91a1 A G 15: 58,432,584 D383G probably damaging Het
Fbxl7 C A 15: 26,789,563 S26I probably damaging Het
Il20 A T 1: 130,911,102 I42K probably damaging Het
Nav3 A G 10: 109,704,929 F1947L probably benign Het
Ncapd3 T A 9: 27,071,965 probably null Het
Numb G T 12: 83,842,277 H23N probably damaging Het
Olfr1419 G A 19: 11,871,223 probably benign Het
Olfr507 A G 7: 108,622,441 I210V probably benign Het
Ppp1r1b C T 11: 98,356,840 T111I probably damaging Het
Rad50 G A 11: 53,686,178 Q528* probably null Het
Scara3 A T 14: 65,930,963 S402T probably benign Het
Sim2 C A 16: 94,123,482 N495K possibly damaging Het
Slc9b1 A G 3: 135,371,982 probably null Het
Tanc2 A G 11: 105,776,920 D109G probably benign Het
Traf1 T C 2: 34,943,893 I404V probably benign Het
Vmn2r68 C A 7: 85,222,117 V653L probably benign Het
Wdr93 A T 7: 79,776,652 Q555L probably benign Het
Other mutations in Sept3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Sept3 APN 15 82279613 unclassified probably benign
IGL03118:Sept3 APN 15 82284514 splice site probably null
R0478:Sept3 UTSW 15 82290806 missense probably damaging 1.00
R0556:Sept3 UTSW 15 82283765 unclassified probably benign
R3804:Sept3 UTSW 15 82286429 splice site probably benign
R3876:Sept3 UTSW 15 82285801 missense probably damaging 1.00
R4589:Sept3 UTSW 15 82285891 missense probably damaging 0.99
R4744:Sept3 UTSW 15 82290457 critical splice donor site probably null
R5954:Sept3 UTSW 15 82290427 missense probably damaging 1.00
R6434:Sept3 UTSW 15 82279603 missense possibly damaging 0.92
R7257:Sept3 UTSW 15 82289213 missense probably damaging 0.99
R7475:Sept3 UTSW 15 82286456 missense probably benign 0.00
R7641:Sept3 UTSW 15 82290782 missense probably damaging 1.00
R7754:Sept3 UTSW 15 82290773 missense probably benign 0.03
R7895:Sept3 UTSW 15 82285819 missense probably benign 0.00
R7991:Sept3 UTSW 15 82286453 missense probably benign 0.39
RF020:Sept3 UTSW 15 82284461 missense probably damaging 1.00
X0065:Sept3 UTSW 15 82279504 missense probably benign 0.03
Posted On2014-05-07