Incidental Mutation 'R7797:Septin1'
ID 600287
Institutional Source Beutler Lab
Gene Symbol Septin1
Ensembl Gene ENSMUSG00000000486
Gene Name septin 1
Synonyms Sept1, Diff6, PNUTL3
MMRRC Submission 045853-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R7797 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126813619-126832302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126813937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 365 (V365E)
Ref Sequence ENSEMBL: ENSMUSP00000101921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000106313] [ENSMUST00000106314] [ENSMUST00000127710] [ENSMUST00000133913] [ENSMUST00000142356] [ENSMUST00000152267] [ENSMUST00000206204] [ENSMUST00000206772]
AlphaFold P42209
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 unknown
Transcript: ENSMUST00000106313
AA Change: V337E
SMART Domains Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486
AA Change: V337E

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 unknown
Transcript: ENSMUST00000106314
AA Change: V365E
SMART Domains Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486
AA Change: V365E

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
SMART Domains Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486

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
Predicted Effect probably benign
Transcript: ENSMUST00000206204
Predicted Effect probably benign
Transcript: ENSMUST00000206772
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (68/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,862,509 (GRCm39) probably null Het
Adam3 T G 8: 25,184,660 (GRCm39) N535T probably damaging Het
Adam34l T A 8: 44,079,411 (GRCm39) E271V probably benign Het
Adamts4 A G 1: 171,085,387 (GRCm39) K679E probably damaging Het
Arnt G A 3: 95,387,572 (GRCm39) probably null Het
Asah2 A G 19: 31,999,761 (GRCm39) F321L probably damaging Het
Asb15 T C 6: 24,562,505 (GRCm39) S156P probably damaging Het
Baiap2l1 A C 5: 144,255,760 (GRCm39) S65A probably damaging Het
Bend7 T G 2: 4,754,455 (GRCm39) M186R probably damaging Het
Blnk T C 19: 40,948,232 (GRCm39) K146E possibly damaging Het
Cd19 A G 7: 126,012,680 (GRCm39) W238R probably damaging Het
Cd44 T A 2: 102,679,079 (GRCm39) N241I probably benign Het
Cdh23 T C 10: 60,220,973 (GRCm39) E1257G probably benign Het
Cfap300 G T 9: 8,027,130 (GRCm39) P136Q possibly damaging Het
Cntnap5c T C 17: 58,666,270 (GRCm39) V1100A probably benign Het
Cul7 T C 17: 46,969,568 (GRCm39) V945A possibly damaging Het
Dock2 C T 11: 34,232,652 (GRCm39) C1116Y probably damaging Het
Ehbp1 T C 11: 22,046,109 (GRCm39) M547V possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Grhl3 C G 4: 135,286,416 (GRCm39) K88N possibly damaging Het
Hbb-y T A 7: 103,501,088 (GRCm39) Y146F probably damaging Het
Hivep2 T C 10: 14,005,847 (GRCm39) V815A probably benign Het
Hoxa7 T A 6: 52,192,870 (GRCm39) I173F probably damaging Het
Igkv1-110 T G 6: 68,247,977 (GRCm39) S29A probably benign Het
Jade2 A G 11: 51,708,126 (GRCm39) S696P probably benign Het
Kif1b T A 4: 149,321,844 (GRCm39) Q1025L probably benign Het
Kif2c A T 4: 117,028,940 (GRCm39) C241S probably benign Het
Kmt2d G T 15: 98,762,287 (GRCm39) H400N probably benign Het
Krt35 T A 11: 99,985,713 (GRCm39) N174Y probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Magi3 A G 3: 103,958,618 (GRCm39) V489A probably damaging Het
Mapk7 T C 11: 61,380,241 (GRCm39) E739G possibly damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdga1 C T 17: 30,061,814 (GRCm39) probably null Het
Megf8 G A 7: 25,034,022 (GRCm39) R607H probably damaging Het
Met T A 6: 17,533,952 (GRCm39) N634K probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mmp11 G T 10: 75,759,314 (GRCm39) T107K Het
Mroh2b A C 15: 4,978,587 (GRCm39) N1378H probably benign Het
Naa15 G A 3: 51,356,031 (GRCm39) C322Y probably damaging Het
Naip1 T A 13: 100,580,986 (GRCm39) Y87F probably damaging Het
Ngrn A G 7: 79,914,185 (GRCm39) D112G probably benign Het
Osbpl1a C A 18: 13,015,321 (GRCm39) C369F probably damaging Het
Pcnx2 G C 8: 126,512,087 (GRCm39) D1406E possibly damaging Het
Phf8-ps T C 17: 33,286,664 (GRCm39) D46G probably damaging Het
Pold1 G A 7: 44,191,213 (GRCm39) P206L probably benign Het
Psen1 A G 12: 83,746,396 (GRCm39) S20G probably benign Het
Ptpn23 C T 9: 110,222,875 (GRCm39) D61N possibly damaging Het
Rbfox3 A T 11: 118,387,310 (GRCm39) L268Q possibly damaging Het
Rbm22 A G 18: 60,694,344 (GRCm39) T26A probably damaging Het
Rpgrip1 G A 14: 52,371,277 (GRCm39) R332Q possibly damaging Het
Rrm2b A T 15: 37,927,505 (GRCm39) L347* probably null Het
Rsf1 A T 7: 97,310,692 (GRCm39) D474V Het
Ryr2 C T 13: 11,816,066 (GRCm39) R640Q probably damaging Het
Sec16b A G 1: 157,389,245 (GRCm39) E691G unknown Het
Tlk2 A G 11: 105,101,444 (GRCm39) H114R probably benign Het
Tmem200a A G 10: 25,869,864 (GRCm39) I135T possibly damaging Het
Tpst2 T A 5: 112,455,782 (GRCm39) V107E probably damaging Het
Trim30a A T 7: 104,060,407 (GRCm39) D456E possibly damaging Het
Ttll3 T C 6: 113,371,738 (GRCm39) V45A possibly damaging Het
Ulk2 A G 11: 61,672,928 (GRCm39) Y889H probably benign Het
Umodl1 A G 17: 31,178,125 (GRCm39) S34G probably benign Het
Vmn1r67 A G 7: 10,180,903 (GRCm39) I56V probably benign Het
Vmn2r120 C T 17: 57,815,874 (GRCm39) G827E probably damaging Het
Zc3h6 T C 2: 128,857,555 (GRCm39) probably null Het
Other mutations in Septin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0675:Septin1 UTSW 7 126,816,171 (GRCm39) missense probably damaging 0.99
R1375:Septin1 UTSW 7 126,817,333 (GRCm39) missense probably damaging 1.00
R1627:Septin1 UTSW 7 126,817,230 (GRCm39) critical splice acceptor site probably null
R1886:Septin1 UTSW 7 126,813,937 (GRCm39) unclassified probably benign
R2409:Septin1 UTSW 7 126,815,143 (GRCm39) critical splice acceptor site probably null
R3872:Septin1 UTSW 7 126,814,447 (GRCm39) unclassified probably benign
R4320:Septin1 UTSW 7 126,816,200 (GRCm39) missense probably damaging 1.00
R4321:Septin1 UTSW 7 126,816,200 (GRCm39) missense probably damaging 1.00
R4323:Septin1 UTSW 7 126,816,200 (GRCm39) missense probably damaging 1.00
R4864:Septin1 UTSW 7 126,816,064 (GRCm39) unclassified probably benign
R5605:Septin1 UTSW 7 126,814,598 (GRCm39) missense probably damaging 1.00
R6838:Septin1 UTSW 7 126,815,894 (GRCm39) missense probably benign 0.01
R6870:Septin1 UTSW 7 126,816,876 (GRCm39) missense probably benign 0.25
R7030:Septin1 UTSW 7 126,816,157 (GRCm39) missense probably benign 0.12
R7494:Septin1 UTSW 7 126,814,122 (GRCm39) missense probably damaging 0.98
R8002:Septin1 UTSW 7 126,815,074 (GRCm39) missense probably damaging 1.00
R9190:Septin1 UTSW 7 126,816,092 (GRCm39) missense probably benign 0.11
X0021:Septin1 UTSW 7 126,814,525 (GRCm39) missense possibly damaging 0.94
Z1177:Septin1 UTSW 7 126,816,074 (GRCm39) missense possibly damaging 0.84
Z1177:Septin1 UTSW 7 126,815,135 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCGGATGGGCCTTAAACTTC -3'
(R):5'- AAAGTGCCACAGAGATCCCG -3'

Sequencing Primer
(F):5'- ATGGGCCTTAAACTTCCGGATTG -3'
(R):5'- CCTCTGGCTGACACTGAAAAGTTG -3'
Posted On 2019-11-26