Incidental Mutation 'R5313:Septin8'
ID 405709
Institutional Source Beutler Lab
Gene Symbol Septin8
Ensembl Gene ENSMUSG00000018398
Gene Name septin 8
Synonyms Sept8, Sepl
MMRRC Submission 042896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R5313 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 53410224-53440432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53426809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 190 (T190I)
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: T190I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: T190I

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: T190I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: T190I

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: T188I

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: T188I

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: T190I

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: T190I

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: T190I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: T190I

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,022,603 (GRCm39) C519R probably damaging Het
Adgra3 A T 5: 50,118,651 (GRCm39) S966T probably benign Het
Adgrl2 A G 3: 148,529,349 (GRCm39) Y1115H probably damaging Het
Adgrl3 A T 5: 81,874,516 (GRCm39) I938F probably damaging Het
Arhgef17 A C 7: 100,578,131 (GRCm39) L939W probably damaging Het
Arhgef18 A G 8: 3,501,629 (GRCm39) probably null Het
Armh3 G A 19: 45,807,414 (GRCm39) R661W probably damaging Het
Cacna1d A C 14: 30,068,798 (GRCm39) I147S probably benign Het
Cdc42bpa T G 1: 179,911,998 (GRCm39) D525E probably benign Het
Cdh6 T A 15: 13,034,723 (GRCm39) I646F probably damaging Het
Col6a5 T G 9: 105,822,743 (GRCm39) I205L unknown Het
Cpox T A 16: 58,498,311 (GRCm39) Y381* probably null Het
Ctsc T C 7: 87,958,761 (GRCm39) V347A probably damaging Het
Dnaaf9 C T 2: 130,551,188 (GRCm39) E1027K probably damaging Het
Ephb6 A T 6: 41,593,727 (GRCm39) T537S possibly damaging Het
Fam135a T C 1: 24,067,666 (GRCm39) I168V possibly damaging Het
Fam234b T A 6: 135,186,185 (GRCm39) D64E possibly damaging Het
Fgfr2 A T 7: 129,842,970 (GRCm39) D157E probably benign Het
Fstl5 A T 3: 76,500,812 (GRCm39) I414F possibly damaging Het
Glp2r T C 11: 67,648,357 (GRCm39) D115G probably damaging Het
Gpr85 A T 6: 13,836,301 (GRCm39) V201D probably damaging Het
Ido1 A C 8: 25,077,794 (GRCm39) I91S probably damaging Het
Ism2 G A 12: 87,326,536 (GRCm39) P468S probably damaging Het
Map2 A G 1: 66,464,538 (GRCm39) K1643E probably damaging Het
Or10ak8 A G 4: 118,773,995 (GRCm39) V223A probably benign Het
Or4c122 C T 2: 89,079,721 (GRCm39) E106K probably benign Het
Or5b112 G A 19: 13,319,429 (GRCm39) M102I probably benign Het
Or6c2 C T 10: 129,362,950 (GRCm39) P285S probably damaging Het
Ppargc1a A G 5: 51,615,581 (GRCm39) probably benign Het
Prpf4b T C 13: 35,078,532 (GRCm39) V714A probably damaging Het
Slc18a2 A G 19: 59,282,275 (GRCm39) K494R probably benign Het
Slc34a2 A T 5: 53,226,681 (GRCm39) K542N probably damaging Het
Snd1 C A 6: 28,668,600 (GRCm39) T429K probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Timm10b T C 7: 105,290,287 (GRCm39) L60P probably damaging Het
Tmprss11a A T 5: 86,559,674 (GRCm39) Y373N probably damaging Het
Usp17la T A 7: 104,510,457 (GRCm39) V354D probably benign Het
Zbtb7b G T 3: 89,288,626 (GRCm39) T64K 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
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
Predicted Primers PCR Primer
(F):5'- AGGGCCTTTAGAAACACTACG -3'
(R):5'- TTCAGATCGGTGTCTCTAAGCC -3'

Sequencing Primer
(F):5'- GAAACACTACGTTGTTACAGTTCCGG -3'
(R):5'- GGTGTCTCTAAGCCCTCTGG -3'
Posted On 2016-07-22