Incidental Mutation 'R6571:Septin8'
ID 526240
Institutional Source Beutler Lab
Gene Symbol Septin8
Ensembl Gene ENSMUSG00000018398
Gene Name septin 8
Synonyms Sept8, Sepl
MMRRC Submission 044695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R6571 (G1)
Quality Score 155.008
Status Validated
Chromosome 11
Chromosomal Location 53410224-53440432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53427990 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 268 (E268G)
Ref Sequence ENSEMBL: ENSMUSP00000120427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108987] [ENSMUST00000117061] [ENSMUST00000120878] [ENSMUST00000121334] [ENSMUST00000142800] [ENSMUST00000147912]
AlphaFold Q8CHH9
Predicted Effect probably damaging
Transcript: ENSMUST00000108987
AA Change: E268G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: E268G

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 damaging
Transcript: ENSMUST00000117061
AA Change: E268G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: E268G

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 damaging
Transcript: ENSMUST00000120878
AA Change: E266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: E266G

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: E268G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: E268G

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 probably benign
Transcript: ENSMUST00000142800
SMART Domains Protein: ENSMUSP00000124057
Gene: ENSMUSG00000018398

DomainStartEndE-ValueType
Pfam:Septin 1 51 5.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145927
Predicted Effect probably damaging
Transcript: ENSMUST00000147912
AA Change: E268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: E268G

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 0.4099 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 94% (31/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,216,390 (GRCm39) I161V possibly damaging Het
Adamts12 T C 15: 11,065,187 (GRCm39) F24S probably benign Het
Bche G T 3: 73,608,824 (GRCm39) Q201K probably benign Het
Camsap1 A T 2: 25,829,512 (GRCm39) D757E possibly damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dab2ip T C 2: 35,602,902 (GRCm39) S399P probably damaging Het
Fbxo40 A T 16: 36,789,668 (GRCm39) C481S probably damaging Het
Fn1 T A 1: 71,665,349 (GRCm39) T923S probably damaging Het
Gm11437 T C 11: 84,047,038 (GRCm39) D147G probably benign Het
Gm5592 A G 7: 40,937,999 (GRCm39) E427G probably damaging Het
Gm6401 T A 14: 41,787,452 (GRCm39) I125F probably damaging Het
Hmcn1 A T 1: 150,491,189 (GRCm39) probably null Het
Inpp4a T C 1: 37,426,839 (GRCm39) M600T probably damaging Het
Itgb6 T C 2: 60,458,800 (GRCm39) E374G probably damaging Het
Lrba A C 3: 86,267,367 (GRCm39) S1686R probably damaging Het
Map3k4 T C 17: 12,461,579 (GRCm39) D1200G possibly damaging Het
Mmp25 T C 17: 23,858,870 (GRCm39) H227R probably benign Het
Or6c38 A C 10: 128,928,990 (GRCm39) N284K probably damaging Het
Papss2 G A 19: 32,629,342 (GRCm39) probably null Het
Rasal2 T A 1: 156,988,749 (GRCm39) R718S possibly damaging Het
Relch A G 1: 105,620,707 (GRCm39) D394G probably benign Het
Rngtt T A 4: 33,379,413 (GRCm39) D438E probably damaging Het
S1pr1 A G 3: 115,505,452 (GRCm39) S381P possibly damaging Het
Slc6a21 A G 7: 44,930,303 (GRCm39) K234R probably damaging Het
Smg1 A G 7: 117,783,737 (GRCm39) probably benign Het
Sntg1 T C 1: 8,433,752 (GRCm39) probably benign Het
Spag5 G T 11: 78,212,095 (GRCm39) R1041I probably damaging Het
Spata31d1b A T 13: 59,865,269 (GRCm39) M806L probably benign Het
Tnfrsf18 T A 4: 156,112,776 (GRCm39) L154* probably null Het
Trib2 T C 12: 15,844,060 (GRCm39) E194G probably damaging Het
Vmn2r33 A G 7: 7,566,668 (GRCm39) V148A probably benign Het
Wiz G A 17: 32,578,298 (GRCm39) R405W probably damaging Het
Zfp747l1 T C 7: 126,984,310 (GRCm39) probably benign 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
R6289:Septin8 UTSW 11 53,425,305 (GRCm39) missense probably damaging 0.99
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'- CACCATCTGAATGTTTGCTCTG -3'
(R):5'- CAGGCCTGAGATAGCAAGTG -3'

Sequencing Primer
(F):5'- TCTGCTCTGTGGGACCAC -3'
(R):5'- GCAAGTGCTGGTGTGACAAG -3'
Posted On 2018-06-22