Incidental Mutation 'R6263:Septin8'
ID 506832
Institutional Source Beutler Lab
Gene Symbol Septin8
Ensembl Gene ENSMUSG00000018398
Gene Name septin 8
Synonyms Sept8, Sepl
MMRRC Submission 044437-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R6263 (G1)
Quality Score 142.008
Status Validated
Chromosome 11
Chromosomal Location 53410224-53440432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53439210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 460 (C460Y)
Ref Sequence ENSEMBL: ENSMUSP00000113038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108987] [ENSMUST00000117061] [ENSMUST00000121334]
AlphaFold Q8CHH9
Predicted Effect probably benign
Transcript: ENSMUST00000108987
SMART Domains Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398

DomainStartEndE-ValueType
Pfam:Septin 41 314 1.9e-101 PFAM
Pfam:MMR_HSR1 46 191 5.7e-7 PFAM
low complexity region 351 374 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117061
SMART Domains Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398

DomainStartEndE-ValueType
Pfam:Septin 41 314 6.5e-101 PFAM
Pfam:MMR_HSR1 46 191 1.3e-6 PFAM
low complexity region 351 374 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121334
AA Change: C460Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: C460Y

DomainStartEndE-ValueType
Pfam:Septin 41 314 1.9e-100 PFAM
Pfam:MMR_HSR1 46 187 2.6e-7 PFAM
low complexity region 351 374 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 97% (66/68)
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 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. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit myelin outfoldings and reduced nerve conduction velocity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,995,641 (GRCm39) I5642V probably benign Het
Atp5f1a A G 18: 77,866,930 (GRCm39) probably null Het
Bltp1 T A 3: 36,985,260 (GRCm39) N863K probably benign Het
Bsn A T 9: 107,990,453 (GRCm39) F1766L probably damaging Het
Ccdc141 T C 2: 76,938,807 (GRCm39) Q266R probably damaging Het
Cdh10 T A 15: 18,964,154 (GRCm39) D105E possibly damaging Het
Clca3a1 T A 3: 144,455,539 (GRCm39) D418V probably damaging Het
Cnnm2 C A 19: 46,845,344 (GRCm39) T612K probably benign Het
Col3a1 T C 1: 45,360,735 (GRCm39) V55A unknown Het
Cpd A C 11: 76,737,097 (GRCm39) D232E probably benign Het
Csde1 A G 3: 102,947,333 (GRCm39) H95R probably benign Het
Ctcfl T A 2: 172,937,130 (GRCm39) H596L probably benign Het
Cwc22 T C 2: 77,726,515 (GRCm39) R855G possibly damaging Het
Cwc25 A G 11: 97,644,053 (GRCm39) Y227H probably damaging Het
Cyp2c38 G A 19: 39,380,659 (GRCm39) P409S probably damaging Het
Ddx5 A G 11: 106,679,139 (GRCm39) S2P possibly damaging Het
Dnah2 C A 11: 69,348,238 (GRCm39) G2570W probably damaging Het
Dnajc10 T A 2: 80,174,292 (GRCm39) V528E probably damaging Het
Efcab3 G A 11: 104,810,312 (GRCm39) D3150N unknown Het
Fmo1 A G 1: 162,677,629 (GRCm39) probably null Het
Gpatch1 C A 7: 35,002,848 (GRCm39) D221Y probably damaging Het
Ino80 T C 2: 119,213,895 (GRCm39) Y1225C probably damaging Het
Itga7 T A 10: 128,779,955 (GRCm39) D501E probably benign Het
Lgr4 T C 2: 109,842,243 (GRCm39) S743P possibly damaging Het
Lilra5 A T 7: 4,241,360 (GRCm39) Y99F probably damaging Het
Lmna A G 3: 88,410,265 (GRCm39) V49A probably damaging Het
Lrrc72 G A 12: 36,258,603 (GRCm39) R267* probably null Het
Mapkbp1 T C 2: 119,853,772 (GRCm39) S1199P probably damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Myh10 A T 11: 68,701,058 (GRCm39) N1756Y probably damaging Het
Nfe2 A G 15: 103,159,378 (GRCm39) I31T probably damaging Het
Nfe2l1 A T 11: 96,708,570 (GRCm39) F732I probably benign Het
Or4a39 C G 2: 89,237,074 (GRCm39) M116I possibly damaging Het
Or4c12b T A 2: 89,647,104 (GRCm39) C145S probably damaging Het
Or52e19b C A 7: 103,032,403 (GRCm39) V269F possibly damaging Het
Pax6 T C 2: 105,523,199 (GRCm39) probably null Het
Phb1 A G 11: 95,568,941 (GRCm39) E192G probably damaging Het
Plekhn1 A T 4: 156,309,650 (GRCm39) probably null Het
Plxnb2 A T 15: 89,046,189 (GRCm39) V942E probably damaging Het
Potegl T A 2: 23,156,745 (GRCm39) probably benign Het
Rsrc2 G A 5: 123,877,751 (GRCm39) probably benign Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc16a7 A G 10: 125,130,508 (GRCm39) I59T probably benign Het
Slc35d1 A T 4: 103,065,365 (GRCm39) I172N possibly damaging Het
Smg5 A T 3: 88,249,208 (GRCm39) N40Y possibly damaging Het
Smurf1 A G 5: 144,818,541 (GRCm39) V633A probably damaging Het
Snx9 T C 17: 5,937,324 (GRCm39) V22A probably damaging Het
Sox6 A T 7: 115,076,295 (GRCm39) M741K probably damaging Het
Spata31d1d T C 13: 59,873,797 (GRCm39) Q1246R probably benign Het
Sval1 A G 6: 41,928,660 (GRCm39) E24G probably damaging Het
Tas2r124 A G 6: 132,731,867 (GRCm39) I59V probably benign Het
Tmem151b T A 17: 45,857,992 (GRCm39) T85S probably benign Het
Tpr T A 1: 150,317,996 (GRCm39) probably null Het
Trpm6 A C 19: 18,831,472 (GRCm39) T1446P possibly damaging Het
Tsc22d4 A T 5: 137,766,441 (GRCm39) K502N possibly damaging Het
Tssk3 C T 4: 129,383,051 (GRCm39) S207N probably benign Het
Ttbk1 G T 17: 46,778,188 (GRCm39) P618Q probably damaging Het
Ttll6 A T 11: 96,047,371 (GRCm39) M657L probably benign Het
Ubash3a T A 17: 31,434,069 (GRCm39) I138N probably benign Het
Ush2a A G 1: 188,090,839 (GRCm39) Y490C probably damaging Het
Vmn1r82 G T 7: 12,039,461 (GRCm39) V127F probably damaging Het
Vmn2r32 A T 7: 7,479,691 (GRCm39) S161T possibly damaging Het
Wdr49 T C 3: 75,388,824 (GRCm39) I58M possibly damaging Het
Wiz A T 17: 32,579,417 (GRCm39) probably null Het
Wrap53 A T 11: 69,453,619 (GRCm39) Y324* probably null Het
Zfp747 A C 7: 126,975,138 (GRCm39) probably benign Het
Zfp827 A G 8: 79,905,702 (GRCm39) Y33C probably damaging Het
Other mutations in Septin8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Septin8 APN 11 53,422,823 (GRCm39) missense probably benign 0.08
IGL01649:Septin8 APN 11 53,425,855 (GRCm39) missense possibly damaging 0.79
IGL02131:Septin8 APN 11 53,428,684 (GRCm39) missense possibly damaging 0.79
IGL02547:Septin8 APN 11 53,428,092 (GRCm39) missense probably damaging 1.00
R0856:Septin8 UTSW 11 53,428,697 (GRCm39) missense probably benign 0.01
R0908:Septin8 UTSW 11 53,428,697 (GRCm39) missense probably benign 0.01
R1799:Septin8 UTSW 11 53,425,310 (GRCm39) missense probably benign 0.32
R3774:Septin8 UTSW 11 53,428,406 (GRCm39) missense probably damaging 1.00
R4747:Septin8 UTSW 11 53,427,545 (GRCm39) missense probably damaging 1.00
R4810:Septin8 UTSW 11 53,425,416 (GRCm39) missense probably damaging 0.97
R5034:Septin8 UTSW 11 53,425,265 (GRCm39) missense probably damaging 1.00
R5313:Septin8 UTSW 11 53,426,809 (GRCm39) missense probably damaging 1.00
R5652:Septin8 UTSW 11 53,428,044 (GRCm39) missense probably damaging 1.00
R6285:Septin8 UTSW 11 53,425,594 (GRCm39) splice site probably null
R6289:Septin8 UTSW 11 53,425,305 (GRCm39) missense probably damaging 0.99
R6571:Septin8 UTSW 11 53,427,990 (GRCm39) missense probably damaging 1.00
R7238:Septin8 UTSW 11 53,427,519 (GRCm39) missense possibly damaging 0.68
R7249:Septin8 UTSW 11 53,425,949 (GRCm39) missense probably damaging 0.97
R7646:Septin8 UTSW 11 53,428,744 (GRCm39) critical splice donor site probably null
R7691:Septin8 UTSW 11 53,428,414 (GRCm39) missense probably benign 0.00
R8170:Septin8 UTSW 11 53,428,684 (GRCm39) missense possibly damaging 0.79
R8776:Septin8 UTSW 11 53,428,343 (GRCm39) missense probably benign 0.00
R8776-TAIL:Septin8 UTSW 11 53,428,343 (GRCm39) missense probably benign 0.00
R8829:Septin8 UTSW 11 53,422,865 (GRCm39) missense probably damaging 1.00
R8899:Septin8 UTSW 11 53,426,862 (GRCm39) missense probably damaging 0.98
R9048:Septin8 UTSW 11 53,427,530 (GRCm39) missense probably damaging 1.00
R9781:Septin8 UTSW 11 53,422,889 (GRCm39) missense probably damaging 1.00
X0024:Septin8 UTSW 11 53,427,551 (GRCm39) nonsense probably null
X0058:Septin8 UTSW 11 53,425,912 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- ACAAGAAGGGTCACGGTACC -3'
(R):5'- CTTCCCTGATGAAAATCGGAAACC -3'

Sequencing Primer
(F):5'- CCCCCGCAGCCCAGAAC -3'
(R):5'- CGGAAACCGTTTGCACTTTTG -3'
Posted On 2018-03-15