Incidental Mutation 'R5437:Septin10'
ID 428429
Institutional Source Beutler Lab
Gene Symbol Septin10
Ensembl Gene ENSMUSG00000019917
Gene Name septin 10
Synonyms 9430099J10Rik, 4921515A04Rik, Sept10
MMRRC Submission 043002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R5437 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58977446-59057322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59012781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 279 (N279I)
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 damaging
Transcript: ENSMUST00000165971
AA Change: N279I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
AA Change: N279I

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 damaging
Transcript: ENSMUST00000218171
AA Change: N52I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000220156
AA Change: N279I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9556 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (63/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 G A 11: 110,210,622 (GRCm39) Q186* probably null Het
Acaca G A 11: 84,237,646 (GRCm39) probably null Het
Acsm3 C A 7: 119,377,720 (GRCm39) probably benign Het
Aoc1 C A 6: 48,884,684 (GRCm39) Q576K probably benign Het
Atp6v0a4 T A 6: 38,053,668 (GRCm39) N378I probably damaging Het
Cacna1i A T 15: 80,255,730 (GRCm39) H871L probably damaging Het
Clic4 C G 4: 134,944,557 (GRCm39) R206P probably damaging Het
Commd9 G A 2: 101,731,373 (GRCm39) G186D probably damaging Het
Cpne9 C T 6: 113,281,591 (GRCm39) probably benign Het
Crhr2 C T 6: 55,077,718 (GRCm39) V196I probably damaging Het
Dctn5 T A 7: 121,732,552 (GRCm39) probably benign Het
Dhtkd1 C T 2: 5,928,930 (GRCm39) R247Q probably benign Het
Dmrta1 G A 4: 89,579,993 (GRCm39) G318R possibly damaging Het
Dpp6 T A 5: 27,868,499 (GRCm39) Y487* probably null Het
Eef1akmt3 A T 10: 126,869,116 (GRCm39) N119K probably damaging Het
Eloa A T 4: 135,740,196 (GRCm39) L75Q probably damaging Het
Fat3 G A 9: 15,996,604 (GRCm39) T1202M probably damaging Het
Fcho2 A G 13: 98,913,982 (GRCm39) I205T possibly damaging Het
Fkbp10 A C 11: 100,311,849 (GRCm39) D174A probably damaging Het
Gcnt2 T A 13: 41,014,652 (GRCm39) F274L probably damaging Het
Gtf3c1 A T 7: 125,266,540 (GRCm39) C969S probably damaging Het
Hook3 T C 8: 26,551,450 (GRCm39) E130G probably benign Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Itsn1 T A 16: 91,615,479 (GRCm39) probably benign Het
Kif13b C T 14: 65,043,563 (GRCm39) R1788C probably damaging Het
Kif3a C T 11: 53,489,553 (GRCm39) S135F probably damaging Het
Klf5 C T 14: 99,538,895 (GRCm39) R23* probably null Het
Lcn5 A G 2: 25,548,023 (GRCm39) I11V probably benign Het
Mpp7 A T 18: 7,458,930 (GRCm39) probably null Het
Mroh5 T C 15: 73,659,818 (GRCm39) I338V probably benign Het
Mthfd2l A G 5: 91,096,757 (GRCm39) N126S possibly damaging Het
Myo18b G T 5: 112,905,439 (GRCm39) A2053E possibly damaging Het
Naip6 A T 13: 100,439,812 (GRCm39) C318* probably null Het
Ndufs7 C T 10: 80,090,758 (GRCm39) R116C possibly damaging Het
Odr4 T G 1: 150,239,269 (GRCm39) I385L probably benign Het
Or1ad6 T C 11: 50,859,935 (GRCm39) M30T probably benign Het
Pnkd T C 1: 74,388,896 (GRCm39) V214A possibly damaging Het
Popdc2 T G 16: 38,183,263 (GRCm39) V82G probably benign Het
Prkdc A T 16: 15,587,739 (GRCm39) L2541F possibly damaging Het
Ptpn9 A T 9: 56,927,321 (GRCm39) H66L possibly damaging Het
Pygm T A 19: 6,440,412 (GRCm39) N397K probably damaging Het
Rabgap1l T A 1: 160,549,717 (GRCm39) E324D probably damaging Het
Rnf6 G A 5: 146,147,090 (GRCm39) R643C probably damaging Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scn7a A G 2: 66,506,690 (GRCm39) Y1400H probably damaging Het
Sh3rf2 A T 18: 42,274,079 (GRCm39) Y415F probably benign Het
Sorcs1 T C 19: 50,241,040 (GRCm39) T449A probably benign Het
Tcam1 C T 11: 106,176,249 (GRCm39) T325M probably damaging Het
Tctn1 A G 5: 122,396,942 (GRCm39) I147T probably benign Het
Tet1 G T 10: 62,650,230 (GRCm39) H30Q probably benign Het
Tmem109 A G 19: 10,849,378 (GRCm39) I159T probably damaging Het
Tmem40 C T 6: 115,735,992 (GRCm39) probably benign Het
Tnfrsf21 C T 17: 43,348,753 (GRCm39) P122S possibly damaging Het
Uaca A G 9: 60,778,733 (GRCm39) D1038G probably benign Het
Ubr2 C G 17: 47,274,623 (GRCm39) E852D probably benign Het
Ubr3 A T 2: 69,774,734 (GRCm39) N518I probably damaging Het
Unc80 T G 1: 66,693,737 (GRCm39) L2596R possibly damaging Het
Zcchc3 G A 2: 152,256,652 (GRCm39) P16S probably benign Het
Other mutations in Septin10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00852:Septin10 APN 10 59,028,642 (GRCm39) splice site probably benign
IGL01296:Septin10 APN 10 59,002,422 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- TAACAATACATCCTCCTCACTCTGG -3'
(R):5'- AGTAGCCATTGATCAGAAGTGAC -3'

Sequencing Primer
(F):5'- TCCTCACTCTGGAGCTTAAGAAAG -3'
(R):5'- GCCATTGATCAGAAGTGACATCTTGC -3'
Posted On 2016-09-01