Incidental Mutation 'IGL03118:Septin3'
ID 409887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Septin3
Ensembl Gene ENSMUSG00000022456
Gene Name septin 3
Synonyms Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # IGL03118
Quality Score
Status
Chromosome 15
Chromosomal Location 82153003-82178775 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 82168715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023095] [ENSMUST00000116423] [ENSMUST00000230365] [ENSMUST00000230418] [ENSMUST00000230507]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000023095
SMART Domains Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456

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 null
Transcript: ENSMUST00000116423
SMART Domains Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456

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 probably null
Transcript: ENSMUST00000230365
Predicted Effect probably null
Transcript: ENSMUST00000230418
Predicted Effect probably null
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in Septin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Septin3 APN 15 82,163,814 (GRCm39) unclassified probably benign
IGL01979:Septin3 APN 15 82,168,593 (GRCm39) missense probably damaging 0.99
R0478:Septin3 UTSW 15 82,175,007 (GRCm39) missense probably damaging 1.00
R0556:Septin3 UTSW 15 82,167,966 (GRCm39) unclassified probably benign
R3804:Septin3 UTSW 15 82,170,630 (GRCm39) splice site probably benign
R3876:Septin3 UTSW 15 82,170,002 (GRCm39) missense probably damaging 1.00
R4589:Septin3 UTSW 15 82,170,092 (GRCm39) missense probably damaging 0.99
R4744:Septin3 UTSW 15 82,174,658 (GRCm39) critical splice donor site probably null
R5954:Septin3 UTSW 15 82,174,628 (GRCm39) missense probably damaging 1.00
R6434:Septin3 UTSW 15 82,163,804 (GRCm39) missense possibly damaging 0.92
R7257:Septin3 UTSW 15 82,173,414 (GRCm39) missense probably damaging 0.99
R7475:Septin3 UTSW 15 82,170,657 (GRCm39) missense probably benign 0.00
R7641:Septin3 UTSW 15 82,174,983 (GRCm39) missense probably damaging 1.00
R7754:Septin3 UTSW 15 82,174,974 (GRCm39) missense probably benign 0.03
R7895:Septin3 UTSW 15 82,170,020 (GRCm39) missense probably benign 0.00
R7991:Septin3 UTSW 15 82,170,654 (GRCm39) missense probably benign 0.39
R9328:Septin3 UTSW 15 82,173,439 (GRCm39) missense probably damaging 0.99
R9347:Septin3 UTSW 15 82,167,914 (GRCm39) missense probably damaging 0.99
R9368:Septin3 UTSW 15 82,163,739 (GRCm39) missense probably damaging 0.98
R9456:Septin3 UTSW 15 82,167,352 (GRCm39) missense probably benign 0.19
R9646:Septin3 UTSW 15 82,170,088 (GRCm39) missense probably benign 0.01
RF020:Septin3 UTSW 15 82,168,662 (GRCm39) missense probably damaging 1.00
X0065:Septin3 UTSW 15 82,163,705 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02