Incidental Mutation 'IGL00428:Septin8'
ID 4600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Septin8
Ensembl Gene ENSMUSG00000018398
Gene Name septin 8
Synonyms Sept8, Sepl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # IGL00428
Quality Score
Status
Chromosome 11
Chromosomal Location 53410224-53440432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53422823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 11 (N11D)
Ref Sequence ENSEMBL: ENSMUSP00000112920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108987] [ENSMUST00000117061] [ENSMUST00000120878] [ENSMUST00000121334] [ENSMUST00000142800] [ENSMUST00000147912]
AlphaFold Q8CHH9
Predicted Effect probably benign
Transcript: ENSMUST00000108987
AA Change: N11D

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: N11D

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
AA Change: N11D

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: N11D

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: ENSMUST00000120878
AA Change: N11D

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: N11D

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 benign
Transcript: ENSMUST00000121334
AA Change: N11D

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: N11D

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 benign
Transcript: ENSMUST00000147912
AA Change: N11D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: N11D

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
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 G A 10: 14,343,119 (GRCm39) P276L probably benign Het
Asap1 G A 15: 63,991,803 (GRCm39) probably benign Het
Axl T C 7: 25,460,297 (GRCm39) T723A probably damaging Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bltp1 A G 3: 37,065,876 (GRCm39) N3491S probably benign Het
Capn7 A G 14: 31,085,535 (GRCm39) K503E probably benign Het
Cbln4 A G 2: 171,880,970 (GRCm39) V108A probably benign Het
Ccdc71 C T 9: 108,341,354 (GRCm39) T389M probably damaging Het
Ccdc91 A G 6: 147,508,452 (GRCm39) T393A unknown Het
Cdh20 A T 1: 104,881,612 (GRCm39) H359L probably benign Het
Cfap119 A T 7: 127,184,210 (GRCm39) S229T probably damaging Het
Coro7 C T 16: 4,452,500 (GRCm39) V364M possibly damaging Het
Ctsq A T 13: 61,185,528 (GRCm39) N204K probably damaging Het
Dnaja3 C T 16: 4,512,309 (GRCm39) R238C probably damaging Het
Dynlt1a C T 17: 6,362,062 (GRCm39) V39I possibly damaging Het
Gp1ba A G 11: 70,531,478 (GRCm39) probably benign Het
Gtf3c3 T C 1: 54,455,114 (GRCm39) Y583C probably damaging Het
Invs T C 4: 48,402,909 (GRCm39) F514S probably damaging Het
Kif23 A T 9: 61,833,750 (GRCm39) C484S probably benign Het
Masp1 A G 16: 23,295,062 (GRCm39) Y400H probably damaging Het
Olfml3 G A 3: 103,644,298 (GRCm39) probably null Het
Pard3b T C 1: 62,200,357 (GRCm39) S299P probably damaging Het
Pcdhb16 A T 18: 37,611,623 (GRCm39) E194D possibly damaging Het
Pip5k1c A T 10: 81,141,545 (GRCm39) T78S probably benign Het
Septin11 T C 5: 93,304,877 (GRCm39) probably null Het
Slc10a6 G A 5: 103,760,362 (GRCm39) T211I probably benign Het
Smim8 T C 4: 34,769,006 (GRCm39) T93A probably benign Het
Tg A G 15: 66,645,273 (GRCm39) I774M probably benign Het
Tulp4 A G 17: 6,189,351 (GRCm39) T58A probably damaging Het
Virma T C 4: 11,519,424 (GRCm39) probably benign Het
Wdr62 T C 7: 29,970,177 (GRCm39) D210G probably damaging Het
Zfp984 C T 4: 147,839,343 (GRCm39) G503S probably benign Het
Other mutations in Septin8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20