Incidental Mutation 'IGL01296:Sept10'
ID 73144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept10
Ensembl Gene ENSMUSG00000019917
Gene Name septin 10
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL01296
Quality Score
Status
Chromosome 10
Chromosomal Location 59141627-59221847 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59166600 bp (GRCm38)
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

DomainStartEndE-ValueType
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: 66,841,705 S301P probably damaging Het
Adam34 A G 8: 43,651,141 V489A possibly damaging Het
Adcy8 G A 15: 64,783,779 T617I probably damaging Het
Aggf1 T C 13: 95,353,971 D605G probably damaging Het
Atp10a T A 7: 58,813,625 F969I probably benign Het
Becn1 A T 11: 101,291,451 N97K probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Crtac1 A T 19: 42,284,213 C578S probably damaging Het
Dcp1b A G 6: 119,215,358 K412E probably damaging Het
Dlg2 T A 7: 91,940,059 I327N probably damaging Het
Ehf T A 2: 103,268,155 probably null Het
Elavl4 T C 4: 110,206,612 N264S probably benign Het
Enpp2 A T 15: 54,875,669 I406N probably damaging Het
F10 A T 8: 13,055,383 Y316F possibly damaging Het
Fam20a A G 11: 109,685,351 I194T possibly damaging Het
Fcgbp T C 7: 28,089,647 V546A probably benign Het
Fras1 A T 5: 96,673,698 Q1438L probably null Het
Gm43638 T C 5: 87,460,592 I463V probably benign Het
Gm597 T C 1: 28,777,056 I632V probably benign Het
H2-T10 T C 17: 36,120,710 D84G probably benign Het
Itpr1 T C 6: 108,399,361 F1262L probably damaging Het
Lama1 A G 17: 67,745,051 N335D probably benign Het
Lasp1 T C 11: 97,836,190 V246A probably damaging Het
Lrrk2 A T 15: 91,683,142 I135L probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Mctp2 T C 7: 72,228,526 K268R probably benign Het
Nbea A T 3: 56,031,536 H710Q probably benign Het
Notch3 G A 17: 32,166,757 R13C unknown Het
Ogfod1 A T 8: 94,055,671 probably benign Het
Olfr1465 A G 19: 13,314,126 L53P probably damaging Het
Olfr339 A G 2: 36,421,704 Y102C probably benign Het
Olfr924 T C 9: 38,848,252 I46T probably damaging Het
Pgm3 A G 9: 86,561,879 V324A probably damaging Het
Ppfia2 A T 10: 106,858,207 I681F probably damaging Het
Prss23 T C 7: 89,509,887 K325E possibly damaging Het
Psmd7 T A 8: 107,586,617 probably benign Het
Rfx2 T A 17: 56,808,317 M1L possibly damaging Het
Rpa1 T C 11: 75,312,315 Y418C probably damaging Het
Rps6kc1 C T 1: 190,773,678 R1029H probably damaging Het
Skint6 A G 4: 113,236,440 F169L probably benign Het
Slc44a4 C T 17: 34,921,698 T289I probably benign Het
Srl T C 16: 4,497,682 D32G probably damaging Het
Stxbp3-ps T A 19: 9,557,892 noncoding transcript Het
Sult1b1 T C 5: 87,514,956 D295G probably benign Het
Tmprss7 A G 16: 45,684,574 V151A probably damaging Het
Trmo A G 4: 46,387,589 L84P probably damaging Het
Vmn2r98 T A 17: 19,065,185 I89N probably damaging Het
Zcwpw1 G A 5: 137,796,799 A86T probably benign Het
Zkscan16 A G 4: 58,956,690 H324R possibly damaging Het
Other mutations in Sept10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Sept10 APN 10 59192820 splice site probably benign
IGL02402:Sept10 APN 10 59170936 missense probably benign 0.02
IGL02992:Sept10 APN 10 59192178 missense possibly damaging 0.87
IGL03010:Sept10 APN 10 59170955 splice site probably benign
IGL03164:Sept10 APN 10 59181099 missense probably damaging 1.00
R1542:Sept10 UTSW 10 59166606 missense probably damaging 1.00
R1945:Sept10 UTSW 10 59181019 critical splice donor site probably null
R3772:Sept10 UTSW 10 59176887 missense probably damaging 0.97
R4086:Sept10 UTSW 10 59192223 nonsense probably null
R4560:Sept10 UTSW 10 59183595 missense probably damaging 1.00
R4573:Sept10 UTSW 10 59192329 missense probably damaging 0.99
R4968:Sept10 UTSW 10 59181121 missense probably damaging 1.00
R5001:Sept10 UTSW 10 59176989 missense probably damaging 1.00
R5437:Sept10 UTSW 10 59176959 missense probably damaging 1.00
R6209:Sept10 UTSW 10 59170848 missense probably damaging 1.00
R6475:Sept10 UTSW 10 59192311 missense possibly damaging 0.74
R7895:Sept10 UTSW 10 59181049 missense probably benign 0.08
R8507:Sept10 UTSW 10 59177003 missense possibly damaging 0.93
Posted On 2013-10-07