Incidental Mutation 'R0544:Septin11'
ID 44671
Institutional Source Beutler Lab
Gene Symbol Septin11
Ensembl Gene ENSMUSG00000058013
Gene Name septin 11
Synonyms D5Ertd606e, 6230410I01Rik, Sept11
MMRRC Submission 038736-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.288) question?
Stock # R0544 (G1)
Quality Score 107
Status Validated
Chromosome 5
Chromosomal Location 93241296-93324306 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93313227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 358 (E358G)
Ref Sequence ENSEMBL: ENSMUSP00000144136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074733] [ENSMUST00000201421] [ENSMUST00000201700] [ENSMUST00000202196] [ENSMUST00000202217] [ENSMUST00000202308]
AlphaFold Q8C1B7
Predicted Effect possibly damaging
Transcript: ENSMUST00000074733
AA Change: E358G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: E358G

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 possibly damaging
Transcript: ENSMUST00000201421
AA Change: E358G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: E358G

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 possibly damaging
Transcript: ENSMUST00000201700
AA Change: E358G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: E358G

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 possibly damaging
Transcript: ENSMUST00000202217
AA Change: E358G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: E358G

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 possibly damaging
Transcript: ENSMUST00000202308
AA Change: E358G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: E358G

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
Meta Mutation Damage Score 0.2279 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (97/99)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,763 (GRCm39) F130L probably benign Het
Aatf C T 11: 84,313,831 (GRCm39) R511Q probably benign Het
Acot12 A T 13: 91,932,775 (GRCm39) D516V probably benign Het
Adgrb2 T C 4: 129,911,335 (GRCm39) V1207A probably damaging Het
Akap9 A G 5: 4,119,185 (GRCm39) D3564G probably benign Het
Arl8b C T 6: 108,760,189 (GRCm39) probably benign Het
Atf6b T C 17: 34,867,273 (GRCm39) probably null Het
Atrn G A 2: 130,828,746 (GRCm39) G1097D probably damaging Het
Btbd6 A G 12: 112,940,702 (GRCm39) E61G probably damaging Het
Car15 A G 16: 17,653,680 (GRCm39) probably benign Het
Car5b G A X: 162,762,297 (GRCm39) R282C probably damaging Het
Carmil2 C T 8: 106,417,867 (GRCm39) A654V probably damaging Het
Ccdc88b A G 19: 6,834,634 (GRCm39) L124P probably damaging Het
Ccnd1 A G 7: 144,491,023 (GRCm39) probably benign Het
Cenph A G 13: 100,909,249 (GRCm39) S53P probably damaging Het
Chrm3 T A 13: 9,927,615 (GRCm39) I474F probably damaging Het
Cln8 T A 8: 14,946,769 (GRCm39) V261E probably benign Het
Coa6 A G 8: 127,149,499 (GRCm39) D25G probably benign Het
Col4a1 T G 8: 11,276,487 (GRCm39) probably benign Het
Cpxm1 T C 2: 130,235,055 (GRCm39) H588R probably damaging Het
Cul7 T C 17: 46,974,470 (GRCm39) L1516P possibly damaging Het
Dcdc5 A G 2: 106,181,909 (GRCm39) noncoding transcript Het
Ddx5 T C 11: 106,673,288 (GRCm39) probably benign Het
Dhx16 C A 17: 36,192,551 (GRCm39) P161Q probably benign Het
Dpy19l1 A T 9: 24,396,406 (GRCm39) probably benign Het
Fastkd5 A G 2: 130,457,216 (GRCm39) V458A probably damaging Het
Fhit A G 14: 9,870,172 (GRCm38) V99A probably damaging Het
Fndc3a A T 14: 72,795,062 (GRCm39) probably benign Het
Foxd4 A T 19: 24,877,182 (GRCm39) S339R possibly damaging Het
Gm10842 T A 11: 105,037,880 (GRCm39) D54E unknown Het
Gns T A 10: 121,212,172 (GRCm39) Y94* probably null Het
Gp2 A G 7: 119,053,719 (GRCm39) W81R probably benign Het
Hdac5 T G 11: 102,086,922 (GRCm39) Q46P probably damaging Het
Homer2 A C 7: 81,299,426 (GRCm39) V13G probably damaging Het
Irs3 A G 5: 137,642,101 (GRCm39) S446P probably benign Het
Ism2 G T 12: 87,332,113 (GRCm39) D141E probably damaging Het
Jak1 T A 4: 101,048,822 (GRCm39) M19L probably benign Het
Kcnd3 C A 3: 105,566,075 (GRCm39) R419S probably damaging Het
Lamb1 T C 12: 31,332,694 (GRCm39) F272S probably damaging Het
Ldlrad2 T G 4: 137,299,579 (GRCm39) T82P possibly damaging Het
Lrp2 T C 2: 69,322,275 (GRCm39) K1885E probably benign Het
Mbd5 T C 2: 49,147,221 (GRCm39) V477A possibly damaging Het
Mrps33 A T 6: 39,782,488 (GRCm39) M11K possibly damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Myom2 T A 8: 15,119,796 (GRCm39) V184E probably damaging Het
Ncor1 C A 11: 62,224,602 (GRCm39) G1210V probably damaging Het
Ncor1 C T 11: 62,224,603 (GRCm39) G1210R probably damaging Het
Nlrp4a A G 7: 26,156,555 (GRCm39) D760G probably benign Het
Noc4l A G 5: 110,798,989 (GRCm39) V231A possibly damaging Het
Or2at1 T C 7: 99,416,867 (GRCm39) I166T probably benign Het
Or4c112 T C 2: 88,854,170 (GRCm39) Y59C probably damaging Het
Or4f14 A T 2: 111,742,905 (GRCm39) Y123* probably null Het
Or4n4b A T 14: 50,536,139 (GRCm39) V209E probably benign Het
Or52ab7 T A 7: 102,977,858 (GRCm39) I55N probably damaging Het
Or5b98 A G 19: 12,931,066 (GRCm39) T38A possibly damaging Het
Or5h25 T A 16: 58,930,588 (GRCm39) K128N probably benign Het
Or8k23 T C 2: 86,186,007 (GRCm39) T240A probably damaging Het
Padi4 GCTGCGTACCTCCAC GC 4: 140,475,760 (GRCm39) probably benign Het
Patj T A 4: 98,457,347 (GRCm39) M1283K probably damaging Het
Pkd1 C T 17: 24,804,657 (GRCm39) T790I probably damaging Het
Plod3 C A 5: 137,020,465 (GRCm39) T526K probably benign Het
Plxnb2 C A 15: 89,042,816 (GRCm39) probably benign Het
Polr1g G T 7: 19,093,066 (GRCm39) P38Q probably damaging Het
Pramel1 T A 4: 143,124,175 (GRCm39) D283E possibly damaging Het
Prpf40a T C 2: 53,031,663 (GRCm39) probably benign Het
Psg23 A T 7: 18,348,607 (GRCm39) Y67N probably damaging Het
Rftn1 T A 17: 50,301,289 (GRCm39) Q242L possibly damaging Het
Rp1l1 A T 14: 64,269,515 (GRCm39) E1700D probably benign Het
Scube3 T C 17: 28,383,127 (GRCm39) F435S probably damaging Het
Sdk2 T C 11: 113,671,836 (GRCm39) Y2104C probably damaging Het
Sh3bp1 T C 15: 78,789,975 (GRCm39) L246P probably damaging Het
Sis T C 3: 72,858,975 (GRCm39) Y352C probably damaging Het
Skint1 T C 4: 111,878,562 (GRCm39) S165P probably damaging Het
Skint10 C T 4: 112,586,008 (GRCm39) probably benign Het
Slc1a2 A T 2: 102,586,417 (GRCm39) R340S probably damaging Het
Slc26a3 C A 12: 31,497,739 (GRCm39) Q48K probably benign Het
Slc5a2 A T 7: 127,869,171 (GRCm39) Y317F probably damaging Het
Sorbs3 T A 14: 70,431,375 (GRCm39) T262S probably benign Het
Tas2r118 G T 6: 23,969,400 (GRCm39) S220R probably damaging Het
Terf2ip C A 8: 112,741,974 (GRCm39) Q223K possibly damaging Het
Tespa1 A G 10: 130,196,680 (GRCm39) Q206R probably damaging Het
Tex10 T C 4: 48,462,766 (GRCm39) probably null Het
Tle1 T A 4: 72,043,227 (GRCm39) K547N probably damaging Het
Tmem131l T A 3: 83,805,853 (GRCm39) Q1530L probably damaging Het
Tomm20l A G 12: 71,169,851 (GRCm39) E145G possibly damaging Het
Tra2a C T 6: 49,227,885 (GRCm39) probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim37 T A 11: 87,036,328 (GRCm39) Y121* probably null Het
Tube1 C T 10: 39,016,941 (GRCm39) probably null Het
Usp6nl T A 2: 6,425,820 (GRCm39) V187D probably damaging Het
Vmn1r13 T C 6: 57,187,248 (GRCm39) F136L probably benign Het
Vmn1r201 A T 13: 22,659,316 (GRCm39) I177F probably benign Het
Vmn1r203 A T 13: 22,708,443 (GRCm39) T75S possibly damaging Het
Vmn1r225 C T 17: 20,722,718 (GRCm39) S53L probably benign Het
Xab2 A T 8: 3,660,994 (GRCm39) W707R probably damaging Het
Zfp808 T C 13: 62,317,248 (GRCm39) probably benign Het
Zng1 A G 19: 24,926,575 (GRCm39) Y159H 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
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
R5826:Septin11 UTSW 5 93,287,309 (GRCm39) missense possibly damaging 0.79
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'- ATGTACGATGCTGTCTTATGCCCTG -3'
(R):5'- GCAAAGCCTCCACTGGTTAGCTTG -3'

Sequencing Primer
(F):5'- GTCTTGCTTTGCGGACTCTTAATAG -3'
(R):5'- accatctgctaaatggggac -3'
Posted On 2013-06-11