Incidental Mutation 'R6838:Sept1'
ID537957
Institutional Source Beutler Lab
Gene Symbol Sept1
Ensembl Gene ENSMUSG00000000486
Gene Nameseptin 1
SynonymsPNUTL3, Diff6
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.356) question?
Stock #R6838 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location127214447-127233130 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 127216722 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 176 (M176V)
Ref Sequence ENSEMBL: ENSMUSP00000146307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000106313] [ENSMUST00000106314] [ENSMUST00000127710] [ENSMUST00000133913] [ENSMUST00000142356] [ENSMUST00000152267] [ENSMUST00000206204] [ENSMUST00000206772]
Predicted Effect probably benign
Transcript: ENSMUST00000032910
SMART Domains Protein: ENSMUSP00000032910
Gene: ENSMUSG00000030672

DomainStartEndE-ValueType
EFh 29 57 9.77e-5 SMART
EFh 99 127 4.45e1 SMART
Blast:EFh 135 163 2e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106313
AA Change: M148V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486
AA Change: M148V

DomainStartEndE-ValueType
Pfam:DUF258 1 74 4.2e-8 PFAM
Pfam:MMR_HSR1 1 200 5.7e-8 PFAM
Pfam:Septin 1 274 5.7e-120 PFAM
coiled coil region 297 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106314
AA Change: M176V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486
AA Change: M176V

DomainStartEndE-ValueType
Pfam:Septin 22 302 3.9e-124 PFAM
Pfam:MMR_HSR1 27 171 6.2e-9 PFAM
low complexity region 349 363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127710
SMART Domains Protein: ENSMUSP00000120915
Gene: ENSMUSG00000030672

DomainStartEndE-ValueType
Pfam:EF-hand_8 7 34 9.7e-3 PFAM
Pfam:EF-hand_1 9 37 1.6e-6 PFAM
Pfam:EF-hand_6 9 38 1.6e-6 PFAM
Pfam:EF-hand_8 21 54 5.1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133913
Predicted Effect probably benign
Transcript: ENSMUST00000142356
AA Change: M148V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486
AA Change: M148V

DomainStartEndE-ValueType
Pfam:DUF258 1 74 1.4e-8 PFAM
Pfam:MMR_HSR1 1 172 1.4e-8 PFAM
Pfam:Septin 1 186 3.1e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152267
AA Change: M176V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000206204
Predicted Effect probably benign
Transcript: ENSMUST00000206772
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 97% (64/66)
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 GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 C G 1: 173,463,980 T317R probably damaging Het
Aqp9 T A 9: 71,112,216 M321L probably benign Het
Avil G A 10: 127,013,562 D576N probably benign Het
Bbs1 C T 19: 4,903,852 M94I possibly damaging Het
BC052040 T C 2: 115,776,990 F275L possibly damaging Het
Bms1 A G 6: 118,416,494 V139A probably benign Het
Bscl2 A T 19: 8,841,381 M57L probably damaging Het
C2cd5 A G 6: 143,029,638 I794T possibly damaging Het
C530008M17Rik A T 5: 76,858,209 T806S unknown Het
Cacna1s C T 1: 136,084,437 T539I possibly damaging Het
Cand1 T C 10: 119,210,030 K990R probably benign Het
Capn7 A G 14: 31,354,173 I311V possibly damaging Het
Cd180 A G 13: 102,702,731 N41D probably benign Het
Celsr1 G A 15: 85,939,194 T1671I probably benign Het
Cep135 A T 5: 76,632,215 Q798L probably damaging Het
Cfap65 T C 1: 74,932,021 D46G probably benign Het
Ddx46 G T 13: 55,639,935 probably null Het
Dnah7b T C 1: 46,191,788 L1402P probably damaging Het
Dnah8 A G 17: 30,710,551 E1402G probably damaging Het
Dock9 A G 14: 121,546,596 Y1989H possibly damaging Het
Ereg A G 5: 91,088,464 D50G probably benign Het
Evi5 G T 5: 107,842,161 T64K possibly damaging Het
Frem3 A C 8: 80,612,031 T318P probably damaging Het
Gm8693 T A 7: 22,691,717 M201L probably benign Het
Gpx1 A G 9: 108,339,940 D81G possibly damaging Het
Gramd1a T C 7: 31,134,504 I499V probably benign Het
Herc2 T A 7: 56,108,778 D804E probably damaging Het
Hist1h4k A T 13: 21,750,205 F101I probably damaging Het
Hk1 T C 10: 62,271,658 E846G probably damaging Het
Iars2 G A 1: 185,329,145 A48V probably damaging Het
Invs C T 4: 48,283,278 T10M possibly damaging Het
Ism2 A T 12: 87,280,201 D321E probably benign Het
Itpr1 T C 6: 108,471,191 S231P possibly damaging Het
Kif17 A T 4: 138,278,399 probably null Het
Lvrn A G 18: 46,890,880 I765V possibly damaging Het
Map4k4 T A 1: 39,976,722 C108S probably damaging Het
Mapk13 G T 17: 28,777,561 probably null Het
Mapkapk2 T A 1: 131,058,003 K95* probably null Het
Mau2 A T 8: 70,039,297 probably null Het
Mex3a A G 3: 88,536,777 T387A probably benign Het
Myo5a T C 9: 75,153,883 probably null Het
Ncbp3 A T 11: 73,073,474 M417L possibly damaging Het
Nod2 A C 8: 88,670,458 E810A possibly damaging Het
Nol3 A T 8: 105,279,575 E152V probably damaging Het
Obox6 T C 7: 15,833,739 E261G possibly damaging Het
Olfr875 A C 9: 37,773,052 Y131S possibly damaging Het
Olfr91 A T 17: 37,093,166 L236* probably null Het
P3h2 T C 16: 26,105,284 S134G possibly damaging Het
Plxna2 A T 1: 194,804,914 R1592S possibly damaging Het
Ppp1r12a C T 10: 108,261,276 S250L possibly damaging Het
Rab38 A G 7: 88,450,709 D144G possibly damaging Het
Spata22 C T 11: 73,345,933 T355M probably benign Het
Tango6 A G 8: 106,742,074 N734S probably benign Het
Tbc1d17 C A 7: 44,844,314 R295L probably damaging Het
Thsd7a G T 6: 12,504,075 P360Q probably damaging Het
Tmem161b C A 13: 84,222,418 probably benign Het
Tnnt1 T C 7: 4,507,407 N239S possibly damaging Het
Tpst1 A T 5: 130,102,438 M250L probably benign Het
Urb1 T A 16: 90,782,106 D689V possibly damaging Het
Usp28 T A 9: 49,000,430 probably null Het
Vldlr G A 19: 27,247,970 D816N probably damaging Het
Wdr1 A G 5: 38,530,031 V219A probably damaging Het
Xndc1 T C 7: 102,073,269 V47A possibly damaging Het
Zfp366 C T 13: 99,228,507 P59S possibly damaging Het
Zfp366 A G 13: 99,246,177 E616G possibly damaging Het
Zfp937 T A 2: 150,239,346 I432K probably benign Het
Other mutations in Sept1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0675:Sept1 UTSW 7 127216999 missense probably damaging 0.99
R1375:Sept1 UTSW 7 127218161 missense probably damaging 1.00
R1627:Sept1 UTSW 7 127218058 critical splice acceptor site probably null
R1886:Sept1 UTSW 7 127214765 unclassified probably benign
R2409:Sept1 UTSW 7 127215971 critical splice acceptor site probably null
R3872:Sept1 UTSW 7 127215275 unclassified probably benign
R4320:Sept1 UTSW 7 127217028 missense probably damaging 1.00
R4321:Sept1 UTSW 7 127217028 missense probably damaging 1.00
R4323:Sept1 UTSW 7 127217028 missense probably damaging 1.00
R4864:Sept1 UTSW 7 127216892 unclassified probably benign
R5605:Sept1 UTSW 7 127215426 missense probably damaging 1.00
R6870:Sept1 UTSW 7 127217704 missense probably benign 0.25
R7030:Sept1 UTSW 7 127216985 missense probably benign 0.12
R7494:Sept1 UTSW 7 127214950 missense probably damaging 0.98
R7797:Sept1 UTSW 7 127214765 missense unknown
R8002:Sept1 UTSW 7 127215902 missense probably damaging 1.00
X0021:Sept1 UTSW 7 127215353 missense possibly damaging 0.94
Z1177:Sept1 UTSW 7 127215963 missense possibly damaging 0.93
Z1177:Sept1 UTSW 7 127216902 missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TGTTCTGAGCCTGAGCCCTTAG -3'
(R):5'- TTCCAGAGTCCATTGCTGCC -3'

Sequencing Primer
(F):5'- CCTTAGGGCCATGGTGC -3'
(R):5'- ATCTCACCCTTTGGCCGAGG -3'
Posted On2018-10-18