Incidental Mutation 'IGL02934:Sept5'
ID 364237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept5
Ensembl Gene ENSMUSG00000072214
Gene Name septin 5
Synonyms Cdcrel1, Pnutl1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.298) question?
Stock # IGL02934
Quality Score
Status
Chromosome 16
Chromosomal Location 18620502-18629954 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18629831 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 7 (Y7C)
Ref Sequence ENSEMBL: ENSMUSP00000156209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096987] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231622] [ENSMUST00000231956] [ENSMUST00000232653]
AlphaFold Q9Z2Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000096987
AA Change: Y7C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: Y7C

DomainStartEndE-ValueType
Pfam:Septin 41 321 1.2e-127 PFAM
Pfam:MMR_HSR1 46 190 5.1e-7 PFAM
low complexity region 355 369 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000231244
AA Change: Y7C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231246
Predicted Effect probably benign
Transcript: ENSMUST00000231335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231400
Predicted Effect probably benign
Transcript: ENSMUST00000231622
Predicted Effect probably benign
Transcript: ENSMUST00000231956
AA Change: Y7C

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232152
Predicted Effect probably benign
Transcript: ENSMUST00000232653
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 septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene show no gross phenotypic changes. Partial defects in synaptic transmission is reported for one allele, and platelet secretion and modest behavioral defects reported for a different allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 122,162,359 (GRCm38) R716* probably null Het
Abca8a A T 11: 110,040,588 (GRCm38) N1246K probably damaging Het
Acadl A G 1: 66,836,975 (GRCm38) Y396H probably benign Het
Apol7c A T 15: 77,526,118 (GRCm38) S209R possibly damaging Het
Atp1a1 A T 3: 101,576,992 (GRCm38) C990* probably null Het
Cachd1 C T 4: 100,968,098 (GRCm38) S583L probably damaging Het
Cbfa2t3 T C 8: 122,647,758 (GRCm38) T48A probably benign Het
Ccdc138 G T 10: 58,573,580 (GRCm38) probably benign Het
Cenpe A G 3: 135,264,351 (GRCm38) E2231G probably damaging Het
Cog3 T C 14: 75,741,689 (GRCm38) I206V probably damaging Het
Cr2 A G 1: 195,154,325 (GRCm38) probably benign Het
Ctdspl2 T C 2: 121,979,009 (GRCm38) V147A probably damaging Het
Cyp4f13 A G 17: 32,929,871 (GRCm38) V300A probably damaging Het
Dkk3 A T 7: 112,150,747 (GRCm38) M72K probably damaging Het
Dock3 A T 9: 107,023,745 (GRCm38) F340L probably benign Het
Fut1 A G 7: 45,618,703 (GRCm38) H27R possibly damaging Het
Igkv4-80 A G 6: 69,016,856 (GRCm38) V17A probably benign Het
Igkv9-123 G A 6: 67,954,396 (GRCm38) P62L possibly damaging Het
Kmt2e T C 5: 23,497,884 (GRCm38) S1021P probably damaging Het
Krt13 A C 11: 100,119,084 (GRCm38) L320R probably damaging Het
Ldhal6b T C 17: 5,417,544 (GRCm38) T372A probably benign Het
Manba T C 3: 135,544,749 (GRCm38) V379A probably benign Het
Map1b C T 13: 99,435,131 (GRCm38) V361I probably benign Het
Map4k1 A G 7: 28,994,106 (GRCm38) S399G probably benign Het
Mff G A 1: 82,747,094 (GRCm38) R229H probably damaging Het
Naga T C 15: 82,330,200 (GRCm38) N370S possibly damaging Het
Ncor2 A T 5: 125,025,557 (GRCm38) M2045K probably benign Het
Nipal1 T C 5: 72,647,907 (GRCm38) L7P probably damaging Het
Olfr9 T A 10: 128,990,089 (GRCm38) M59K probably damaging Het
Pcmt1 A T 10: 7,640,727 (GRCm38) M187K probably benign Het
Perp A T 10: 18,855,772 (GRCm38) T160S probably damaging Het
Rapgef6 G A 11: 54,625,864 (GRCm38) D169N probably damaging Het
Sel1l G A 12: 91,809,936 (GRCm38) Q711* probably null Het
Spdya A T 17: 71,556,400 (GRCm38) N48I probably benign Het
Stard6 T A 18: 70,496,104 (GRCm38) probably benign Het
Sytl2 T C 7: 90,375,992 (GRCm38) V396A probably benign Het
Tcaf3 T G 6: 42,593,898 (GRCm38) M307L probably benign Het
Tdrd6 T C 17: 43,627,887 (GRCm38) N757D probably benign Het
Tgm1 T A 14: 55,709,989 (GRCm38) D305V probably damaging Het
Themis2 T A 4: 132,789,551 (GRCm38) M213L probably damaging Het
Tmem184c A G 8: 77,597,820 (GRCm38) V347A probably damaging Het
Tmem214 A G 5: 30,871,544 (GRCm38) E159G probably benign Het
Trim58 C T 11: 58,640,466 (GRCm38) probably benign Het
Tshz1 A T 18: 84,013,090 (GRCm38) S1064R probably damaging Het
Ubr2 C T 17: 46,957,340 (GRCm38) E983K possibly damaging Het
Vmn1r23 A T 6: 57,925,929 (GRCm38) I288N probably benign Het
Vmn2r97 T C 17: 18,929,685 (GRCm38) V445A probably benign Het
Whrn G A 4: 63,416,105 (GRCm38) T813M probably damaging Het
Xirp2 C T 2: 67,515,676 (GRCm38) H2754Y probably benign Het
Other mutations in Sept5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Sept5 APN 16 18,624,930 (GRCm38) missense probably damaging 1.00
IGL02124:Sept5 APN 16 18,624,829 (GRCm38) missense probably damaging 0.98
IGL02211:Sept5 APN 16 18,624,879 (GRCm38) missense probably damaging 1.00
R0518:Sept5 UTSW 16 18,624,897 (GRCm38) missense probably benign 0.02
R0521:Sept5 UTSW 16 18,624,897 (GRCm38) missense probably benign 0.02
R0627:Sept5 UTSW 16 18,625,365 (GRCm38) missense possibly damaging 0.90
R0746:Sept5 UTSW 16 18,623,225 (GRCm38) missense probably damaging 1.00
R0891:Sept5 UTSW 16 18,624,845 (GRCm38) missense probably damaging 1.00
R1037:Sept5 UTSW 16 18,623,094 (GRCm38) splice site probably benign
R1850:Sept5 UTSW 16 18,625,210 (GRCm38) missense probably damaging 1.00
R2044:Sept5 UTSW 16 18,623,012 (GRCm38) missense probably benign 0.10
R3872:Sept5 UTSW 16 18,622,973 (GRCm38) missense probably damaging 0.98
R4498:Sept5 UTSW 16 18,623,392 (GRCm38) missense probably damaging 1.00
R5503:Sept5 UTSW 16 18,623,368 (GRCm38) missense probably benign 0.00
R5963:Sept5 UTSW 16 18,624,212 (GRCm38) splice site probably null
R6286:Sept5 UTSW 16 18,623,377 (GRCm38) missense probably damaging 0.99
R7014:Sept5 UTSW 16 18,624,909 (GRCm38) missense probably damaging 1.00
R7909:Sept5 UTSW 16 18,624,622 (GRCm38) missense probably damaging 1.00
R8708:Sept5 UTSW 16 18,624,872 (GRCm38) missense probably benign 0.01
R8888:Sept5 UTSW 16 18,623,111 (GRCm38) missense possibly damaging 0.81
R8895:Sept5 UTSW 16 18,623,111 (GRCm38) missense possibly damaging 0.81
R9210:Sept5 UTSW 16 18,624,211 (GRCm38) missense possibly damaging 0.89
Posted On 2015-12-18