Incidental Mutation 'R6289:Septin8'
ID 508308
Institutional Source Beutler Lab
Gene Symbol Septin8
Ensembl Gene ENSMUSG00000018398
Gene Name septin 8
Synonyms Sept8, Sepl
MMRRC Submission 044459-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R6289 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 53410224-53440432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53425305 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 66 (N66S)
Ref Sequence ENSEMBL: ENSMUSP00000113038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108987] [ENSMUST00000117061] [ENSMUST00000120878] [ENSMUST00000121334] [ENSMUST00000142800] [ENSMUST00000147912]
AlphaFold Q8CHH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000108987
AA Change: N66S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: N66S

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 possibly damaging
Transcript: ENSMUST00000117061
AA Change: N66S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: N66S

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 possibly damaging
Transcript: ENSMUST00000120878
AA Change: N66S

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: N66S

DomainStartEndE-ValueType
Pfam:Septin 41 312 6.4e-98 PFAM
Pfam:MMR_HSR1 46 190 6.3e-7 PFAM
low complexity region 349 372 N/A INTRINSIC
low complexity region 377 392 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121334
AA Change: N66S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: N66S

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
Predicted Effect unknown
Transcript: ENSMUST00000142800
AA Change: N6S
SMART Domains Protein: ENSMUSP00000124057
Gene: ENSMUSG00000018398
AA Change: N6S

DomainStartEndE-ValueType
Pfam:Septin 1 51 5.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145927
Predicted Effect probably damaging
Transcript: ENSMUST00000147912
AA Change: N66S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: N66S

DomainStartEndE-ValueType
Pfam:Septin 41 314 2.1e-101 PFAM
Pfam:MMR_HSR1 46 190 6e-7 PFAM
low complexity region 351 374 N/A INTRINSIC
low complexity region 379 394 N/A INTRINSIC
Meta Mutation Damage Score 0.6442 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,480 (GRCm39) V94A probably damaging Het
Ankrd36 T C 11: 5,578,837 (GRCm39) S34P probably damaging Het
Arid3c G A 4: 41,724,285 (GRCm39) probably benign Het
Atg16l1 C T 1: 87,683,937 (GRCm39) R6C probably damaging Het
Bex6 A G 16: 32,005,530 (GRCm39) I113V probably benign Het
Blk T C 14: 63,613,341 (GRCm39) probably null Het
C1s1 A G 6: 124,508,135 (GRCm39) F618S probably damaging Het
Casp8ap2 C T 4: 32,639,590 (GRCm39) H215Y probably damaging Het
Casp9 T A 4: 141,534,496 (GRCm39) V302E probably damaging Het
Ccl2 A C 11: 81,927,795 (GRCm39) K80Q probably benign Het
Cit T G 5: 116,144,385 (GRCm39) *2014E probably null Het
Dclk2 A T 3: 86,739,124 (GRCm39) S292T probably benign Het
Ddx23 T C 15: 98,547,765 (GRCm39) E463G probably benign Het
Dennd1b T C 1: 139,096,683 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fgf10 C A 13: 118,852,028 (GRCm39) Q37K probably benign Het
Fgf22 A G 10: 79,591,041 (GRCm39) D24G probably damaging Het
Gabra1 A G 11: 42,045,846 (GRCm39) I88T probably damaging Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
H1f5 G T 13: 21,964,609 (GRCm39) P39Q probably damaging Het
Hpse2 T A 19: 42,777,418 (GRCm39) N583Y probably null Het
Katnal2 A G 18: 77,105,151 (GRCm39) probably null Het
Keg1 T G 19: 12,691,937 (GRCm39) C85G probably damaging Het
Kidins220 T A 12: 25,106,615 (GRCm39) L1356H probably damaging Het
Lifr A G 15: 7,196,391 (GRCm39) K192E probably benign Het
Mks1 T C 11: 87,750,485 (GRCm39) probably null Het
Or5b110-ps1 T C 19: 13,260,158 (GRCm39) K88R possibly damaging Het
Rars1 C T 11: 35,716,894 (GRCm39) M207I probably damaging Het
Rbm6 T C 9: 107,655,147 (GRCm39) Y896C probably damaging Het
Scarf1 T A 11: 75,416,242 (GRCm39) W472R possibly damaging Het
Smcr8 T C 11: 60,669,424 (GRCm39) F191L probably damaging Het
Tdrd6 A G 17: 43,935,411 (GRCm39) M1879T probably benign Het
Tlr3 C T 8: 45,849,966 (GRCm39) R901Q probably benign Het
Trpc4ap T C 2: 155,505,627 (GRCm39) T203A possibly damaging Het
Tubgcp5 A G 7: 55,445,671 (GRCm39) S58G probably benign Het
Ubtd2 A G 11: 32,466,177 (GRCm39) E132G probably damaging Het
Uggt2 T A 14: 119,279,014 (GRCm39) E831V probably damaging Het
Umodl1 A G 17: 31,201,325 (GRCm39) N418S probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Wdhd1 A C 14: 47,495,953 (GRCm39) I637S possibly 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
R6263:Septin8 UTSW 11 53,439,210 (GRCm39) missense probably benign 0.00
R6285:Septin8 UTSW 11 53,425,594 (GRCm39) splice site probably null
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'- GGGATAGAGGCTTCCTTCTCTC -3'
(R):5'- AGCGCTTGAGCAGTGTTAGG -3'

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