Incidental Mutation 'IGL01296:Septin10'
ID 73144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Septin10
Ensembl Gene ENSMUSG00000019917
Gene Name septin 10
Synonyms 9430099J10Rik, 4921515A04Rik, Sept10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL01296
Quality Score
Chromosome 10
Chromosomal Location 58977446-59057322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59002422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 391 (V391A)
Ref Sequence ENSEMBL: ENSMUSP00000151293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165971] [ENSMUST00000218171] [ENSMUST00000220156]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000165971
AA Change: V391A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
AA Change: V391A

Pfam:Septin 36 307 1.1e-100 PFAM
Pfam:MMR_HSR1 41 182 2.2e-7 PFAM
low complexity region 374 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218171
AA Change: V164A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220156
AA Change: V391A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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 encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,880,864 (GRCm39) S301P probably damaging Het
Adam34 A G 8: 44,104,178 (GRCm39) V489A possibly damaging Het
Adcy8 G A 15: 64,655,628 (GRCm39) T617I probably damaging Het
Aggf1 T C 13: 95,490,479 (GRCm39) D605G probably damaging Het
Atp10a T A 7: 58,463,373 (GRCm39) F969I probably benign Het
Becn1 A T 11: 101,182,277 (GRCm39) N97K probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Crtac1 A T 19: 42,272,652 (GRCm39) C578S probably damaging Het
Dcp1b A G 6: 119,192,319 (GRCm39) K412E probably damaging Het
Dlg2 T A 7: 91,589,267 (GRCm39) I327N probably damaging Het
Ehf T A 2: 103,098,500 (GRCm39) probably null Het
Elavl4 T C 4: 110,063,809 (GRCm39) N264S probably benign Het
Enpp2 A T 15: 54,739,065 (GRCm39) I406N probably damaging Het
F10 A T 8: 13,105,383 (GRCm39) Y316F possibly damaging Het
Fam20a A G 11: 109,576,177 (GRCm39) I194T possibly damaging Het
Fcgbp T C 7: 27,789,072 (GRCm39) V546A probably benign Het
Fras1 A T 5: 96,821,557 (GRCm39) Q1438L probably null Het
Gm43638 T C 5: 87,608,451 (GRCm39) I463V probably benign Het
H2-T10 T C 17: 36,431,602 (GRCm39) D84G probably benign Het
Itpr1 T C 6: 108,376,322 (GRCm39) F1262L probably damaging Het
Lama1 A G 17: 68,052,046 (GRCm39) N335D probably benign Het
Lasp1 T C 11: 97,727,016 (GRCm39) V246A probably damaging Het
Lrrk2 A T 15: 91,567,345 (GRCm39) I135L probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Mctp2 T C 7: 71,878,274 (GRCm39) K268R probably benign Het
Nbea A T 3: 55,938,957 (GRCm39) H710Q probably benign Het
Notch3 G A 17: 32,385,731 (GRCm39) R13C unknown Het
Ogfod1 A T 8: 94,782,299 (GRCm39) probably benign Het
Or1j11 A G 2: 36,311,716 (GRCm39) Y102C probably benign Het
Or5b111 A G 19: 13,291,490 (GRCm39) L53P probably damaging Het
Or8d2 T C 9: 38,759,548 (GRCm39) I46T probably damaging Het
Pgm3 A G 9: 86,443,932 (GRCm39) V324A probably damaging Het
Ppfia2 A T 10: 106,694,068 (GRCm39) I681F probably damaging Het
Prss23 T C 7: 89,159,095 (GRCm39) K325E possibly damaging Het
Psmd7 T A 8: 108,313,249 (GRCm39) probably benign Het
Rfx2 T A 17: 57,115,317 (GRCm39) M1L possibly damaging Het
Rpa1 T C 11: 75,203,141 (GRCm39) Y418C probably damaging Het
Rps6kc1 C T 1: 190,505,875 (GRCm39) R1029H probably damaging Het
Skint6 A G 4: 113,093,637 (GRCm39) F169L probably benign Het
Slc44a4 C T 17: 35,140,674 (GRCm39) T289I probably benign Het
Spata31e5 T C 1: 28,816,137 (GRCm39) I632V probably benign Het
Srl T C 16: 4,315,546 (GRCm39) D32G probably damaging Het
Stxbp3-ps T A 19: 9,535,256 (GRCm39) noncoding transcript Het
Sult1b1 T C 5: 87,662,815 (GRCm39) D295G probably benign Het
Tmprss7 A G 16: 45,504,937 (GRCm39) V151A probably damaging Het
Trmo A G 4: 46,387,589 (GRCm39) L84P probably damaging Het
Vmn2r98 T A 17: 19,285,447 (GRCm39) I89N probably damaging Het
Zcwpw1 G A 5: 137,795,061 (GRCm39) A86T probably benign Het
Zkscan16 A G 4: 58,956,690 (GRCm39) H324R possibly damaging Het
Other mutations in Septin10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Septin10 APN 10 59,028,642 (GRCm39) splice site probably benign
IGL02402:Septin10 APN 10 59,006,758 (GRCm39) missense probably benign 0.02
IGL02992:Septin10 APN 10 59,028,000 (GRCm39) missense possibly damaging 0.87
IGL03010:Septin10 APN 10 59,006,777 (GRCm39) splice site probably benign
IGL03164:Septin10 APN 10 59,016,921 (GRCm39) missense probably damaging 1.00
R1542:Septin10 UTSW 10 59,002,428 (GRCm39) missense probably damaging 1.00
R1945:Septin10 UTSW 10 59,016,841 (GRCm39) critical splice donor site probably null
R3772:Septin10 UTSW 10 59,012,709 (GRCm39) missense probably damaging 0.97
R4086:Septin10 UTSW 10 59,028,045 (GRCm39) nonsense probably null
R4560:Septin10 UTSW 10 59,019,417 (GRCm39) missense probably damaging 1.00
R4573:Septin10 UTSW 10 59,028,151 (GRCm39) missense probably damaging 0.99
R4968:Septin10 UTSW 10 59,016,943 (GRCm39) missense probably damaging 1.00
R5001:Septin10 UTSW 10 59,012,811 (GRCm39) missense probably damaging 1.00
R5437:Septin10 UTSW 10 59,012,781 (GRCm39) missense probably damaging 1.00
R6209:Septin10 UTSW 10 59,006,670 (GRCm39) missense probably damaging 1.00
R6475:Septin10 UTSW 10 59,028,133 (GRCm39) missense possibly damaging 0.74
R7895:Septin10 UTSW 10 59,016,871 (GRCm39) missense probably benign 0.08
R8507:Septin10 UTSW 10 59,012,825 (GRCm39) missense possibly damaging 0.93
Posted On 2013-10-07