Incidental Mutation 'R5826:Septin11'
ID 501608
Institutional Source Beutler Lab
Gene Symbol Septin11
Ensembl Gene ENSMUSG00000058013
Gene Name septin 11
Synonyms D5Ertd606e, 6230410I01Rik, Sept11
MMRRC Submission 043217-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R5826 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 93241296-93324306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93287309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 8 (N8I)
Ref Sequence ENSEMBL: ENSMUSP00000144360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074733] [ENSMUST00000201421] [ENSMUST00000201700] [ENSMUST00000202196] [ENSMUST00000202217] [ENSMUST00000202308] [ENSMUST00000202415]
AlphaFold Q8C1B7
Predicted Effect probably benign
Transcript: ENSMUST00000074733
AA Change: N10I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: N10I

DomainStartEndE-ValueType
Pfam:Septin 38 311 5.3e-101 PFAM
Pfam:MMR_HSR1 43 185 3.8e-8 PFAM
low complexity region 350 366 N/A INTRINSIC
low complexity region 376 391 N/A INTRINSIC
low complexity region 396 419 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201421
AA Change: N10I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: N10I

DomainStartEndE-ValueType
Pfam:Septin 38 311 5.3e-101 PFAM
Pfam:MMR_HSR1 43 185 3.8e-8 PFAM
low complexity region 350 366 N/A INTRINSIC
low complexity region 376 391 N/A INTRINSIC
low complexity region 396 419 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201700
AA Change: N10I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: N10I

DomainStartEndE-ValueType
Pfam:Septin 38 311 7.9e-99 PFAM
Pfam:MMR_HSR1 43 185 7e-7 PFAM
coiled coil region 333 409 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202196
SMART Domains Protein: ENSMUSP00000144573
Gene: ENSMUSG00000058013

DomainStartEndE-ValueType
Pfam:Septin 1 204 5.9e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000202217
AA Change: N10I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: N10I

DomainStartEndE-ValueType
Pfam:Septin 38 311 7.7e-101 PFAM
Pfam:MMR_HSR1 43 185 4.1e-8 PFAM
low complexity region 350 366 N/A INTRINSIC
low complexity region 376 391 N/A INTRINSIC
low complexity region 396 419 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202308
AA Change: N10I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: N10I

DomainStartEndE-ValueType
Pfam:Septin 38 311 5.1e-101 PFAM
Pfam:MMR_HSR1 43 185 3.7e-8 PFAM
low complexity region 350 366 N/A INTRINSIC
low complexity region 376 391 N/A INTRINSIC
low complexity region 396 419 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202415
AA Change: N8I

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144360
Gene: ENSMUSG00000058013
AA Change: N8I

DomainStartEndE-ValueType
Pfam:Septin 36 97 9.3e-11 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,632,056 (GRCm39) H4992R probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Akr1c20 T C 13: 4,560,222 (GRCm39) E152G probably damaging Het
Ano4 T A 10: 88,788,189 (GRCm39) D877V probably damaging Het
Asb18 A C 1: 89,942,260 (GRCm39) S14A probably damaging Het
Atrnl1 T A 19: 57,618,724 (GRCm39) Y147* probably null Het
Cbfa2t2 A G 2: 154,342,375 (GRCm39) I30M possibly damaging Het
Cpd A T 11: 76,675,242 (GRCm39) L1293* probably null Het
Csmd2 T C 4: 128,412,992 (GRCm39) probably null Het
Cst9 G A 2: 148,680,393 (GRCm39) V120I possibly damaging Het
Ddah2 A G 17: 35,279,664 (GRCm39) D128G probably damaging Het
Defb11 T C 8: 22,395,510 (GRCm39) I56V probably benign Het
Dnah17 A T 11: 117,925,193 (GRCm39) L3880Q probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dop1a A G 9: 86,389,623 (GRCm39) T508A possibly damaging Het
Ephb2 T A 4: 136,388,048 (GRCm39) H685L probably damaging Het
Glrb T C 3: 80,752,449 (GRCm39) Y387C probably damaging Het
Gucy2e A G 11: 69,126,859 (GRCm39) S205P possibly damaging Het
Has2 T A 15: 56,531,498 (GRCm39) I406F probably damaging Het
Hcrtr2 A C 9: 76,230,569 (GRCm39) V73G probably benign Het
Hsd17b4 A T 18: 50,316,239 (GRCm39) Q622L probably benign Het
Nlrp1b A T 11: 71,072,022 (GRCm39) M607K probably benign Het
Nol6 T A 4: 41,122,158 (GRCm39) D184V probably benign Het
Noxa1 T A 2: 24,976,253 (GRCm39) Q345L probably damaging Het
Nudt6 T C 3: 37,473,617 (GRCm39) T35A probably benign Het
Phf8-ps C A 17: 33,284,288 (GRCm39) R838I possibly damaging Het
Plcg2 T C 8: 118,337,583 (GRCm39) V985A probably benign Het
Plxnc1 C T 10: 94,635,335 (GRCm39) probably null Het
Prkdc G A 16: 15,551,962 (GRCm39) R2056H probably benign Het
Ptpn4 A T 1: 119,612,246 (GRCm39) I49N probably benign Het
Ralgapa1 T G 12: 55,723,898 (GRCm39) S1543R probably damaging Het
Rnf135 A T 11: 80,089,912 (GRCm39) N416I probably damaging Het
Scn5a A G 9: 119,350,399 (GRCm39) L825P probably damaging Het
Slc13a3 T C 2: 165,250,876 (GRCm39) I456V probably benign Het
Slc16a3 A G 11: 120,847,756 (GRCm39) T315A probably benign Het
Sun1 T G 5: 139,231,171 (GRCm39) F657C probably damaging Het
Tmco3 T C 8: 13,360,314 (GRCm39) S34P probably damaging Het
Tnrc18 G A 5: 142,759,502 (GRCm39) P778L unknown Het
Ubxn4 A C 1: 128,194,058 (GRCm39) K284T possibly damaging Het
Usp37 A T 1: 74,509,785 (GRCm39) N461K probably damaging Het
Vmn2r106 A T 17: 20,499,133 (GRCm39) F259L probably benign Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Other mutations in Septin11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Septin11 APN 5 93,304,877 (GRCm39) splice site probably null
IGL00984:Septin11 APN 5 93,310,043 (GRCm39) missense possibly damaging 0.90
IGL01452:Septin11 APN 5 93,309,063 (GRCm39) missense possibly damaging 0.82
IGL01677:Septin11 APN 5 93,296,392 (GRCm39) missense probably damaging 0.98
IGL01732:Septin11 APN 5 93,309,085 (GRCm39) missense probably damaging 1.00
IGL02476:Septin11 APN 5 93,296,443 (GRCm39) critical splice donor site probably null
I0000:Septin11 UTSW 5 93,313,118 (GRCm39) missense probably benign 0.05
R0544:Septin11 UTSW 5 93,313,227 (GRCm39) missense possibly damaging 0.80
R0611:Septin11 UTSW 5 93,315,393 (GRCm39) missense probably damaging 0.99
R1438:Septin11 UTSW 5 93,296,287 (GRCm39) missense probably damaging 1.00
R1702:Septin11 UTSW 5 93,304,783 (GRCm39) missense probably damaging 1.00
R1727:Septin11 UTSW 5 93,304,783 (GRCm39) missense probably damaging 1.00
R3838:Septin11 UTSW 5 93,296,258 (GRCm39) missense probably damaging 1.00
R3847:Septin11 UTSW 5 93,310,026 (GRCm39) missense probably damaging 1.00
R4609:Septin11 UTSW 5 93,310,113 (GRCm39) missense possibly damaging 0.89
R4717:Septin11 UTSW 5 93,304,815 (GRCm39) missense possibly damaging 0.89
R4852:Septin11 UTSW 5 93,310,112 (GRCm39) missense possibly damaging 0.52
R4986:Septin11 UTSW 5 93,309,100 (GRCm39) missense probably damaging 1.00
R5806:Septin11 UTSW 5 93,315,437 (GRCm39) missense probably benign 0.18
R5896:Septin11 UTSW 5 93,304,824 (GRCm39) missense probably damaging 1.00
R6641:Septin11 UTSW 5 93,287,411 (GRCm39) missense probably damaging 1.00
R7144:Septin11 UTSW 5 93,304,725 (GRCm39) missense probably benign 0.00
R7479:Septin11 UTSW 5 93,304,804 (GRCm39) missense probably damaging 0.99
R7757:Septin11 UTSW 5 93,319,323 (GRCm39) splice site probably null
R8056:Septin11 UTSW 5 93,315,435 (GRCm39) missense unknown
R8103:Septin11 UTSW 5 93,309,007 (GRCm39) critical splice acceptor site probably null
R9152:Septin11 UTSW 5 93,287,329 (GRCm39) missense probably benign 0.00
R9429:Septin11 UTSW 5 93,321,397 (GRCm39) critical splice donor site probably null
R9717:Septin11 UTSW 5 93,296,266 (GRCm39) missense possibly damaging 0.95
Z1177:Septin11 UTSW 5 93,310,142 (GRCm39) missense probably damaging 0.96
Z1177:Septin11 UTSW 5 93,304,822 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTAGTCTGCTTTTGGAGGGAAGC -3'
(R):5'- CTCTTCACAGGGGTGCCT -3'

Sequencing Primer
(F):5'- CTTTTGGAGGGAAGCTGTAAGAG -3'
(R):5'- GGACAGCCATGATTATTAGCTTGCTC -3'
Posted On 2017-12-01