Incidental Mutation 'R0675:Septin1'
ID 218607
Institutional Source Beutler Lab
Gene Symbol Septin1
Ensembl Gene ENSMUSG00000000486
Gene Name septin 1
Synonyms Sept1, Diff6, PNUTL3
MMRRC Submission 038860-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.251) question?
Stock # R0675 (G1)
Quality Score 59
Status Validated
Chromosome 7
Chromosomal Location 126813619-126832302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126816171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 86 (F86L)
Ref Sequence ENSEMBL: ENSMUSP00000145906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032910] [ENSMUST00000106313] [ENSMUST00000106314] [ENSMUST00000127710] [ENSMUST00000142356] [ENSMUST00000133913] [ENSMUST00000152267] [ENSMUST00000206772] [ENSMUST00000206204]
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 possibly damaging
Transcript: ENSMUST00000106313
AA Change: F86L

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101920
Gene: ENSMUSG00000000486
AA Change: F86L

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 possibly damaging
Transcript: ENSMUST00000106314
AA Change: F114L

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101921
Gene: ENSMUSG00000000486
AA Change: F114L

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 noncoding transcript
Transcript: ENSMUST00000131208
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133733
Predicted Effect probably damaging
Transcript: ENSMUST00000142356
AA Change: F86L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114468
Gene: ENSMUSG00000000486
AA Change: F86L

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 damaging
Transcript: ENSMUST00000133913
AA Change: F86L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000152267
AA Change: F114L

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143222
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138541
Predicted Effect probably benign
Transcript: ENSMUST00000206772
Predicted Effect probably benign
Transcript: ENSMUST00000206204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139613
Meta Mutation Damage Score 0.0924 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (88/91)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C T 5: 36,024,124 (GRCm39) probably benign Het
Aire T C 10: 77,870,327 (GRCm39) probably benign Het
Akap12 T C 10: 4,303,315 (GRCm39) S42P probably benign Het
Amigo1 T C 3: 108,098,985 (GRCm39) probably benign Het
Angptl3 A G 4: 98,921,499 (GRCm39) T206A probably benign Het
Ank1 T A 8: 23,600,400 (GRCm39) probably benign Het
Ano5 A T 7: 51,224,558 (GRCm39) T472S probably damaging Het
Arid3c T C 4: 41,725,958 (GRCm39) D215G probably damaging Het
Cd200 T C 16: 45,217,473 (GRCm39) I73V probably benign Het
Cd47 T C 16: 49,727,162 (GRCm39) I318T possibly damaging Het
Cep290 A G 10: 100,404,675 (GRCm39) probably null Het
Cep350 A G 1: 155,835,499 (GRCm39) S66P possibly damaging Het
Cfap46 C T 7: 139,255,950 (GRCm39) C300Y probably damaging Het
Chd1 T A 17: 15,978,523 (GRCm39) probably benign Het
Chd5 C A 4: 152,470,407 (GRCm39) T1913K probably benign Het
Cimip3 T C 17: 47,724,701 (GRCm39) E140G probably benign Het
Clec4b1 A G 6: 123,048,405 (GRCm39) Y180C probably damaging Het
Cntnap5c A T 17: 58,341,990 (GRCm39) D227V probably damaging Het
Col19a1 C G 1: 24,614,536 (GRCm39) probably benign Het
Csmd1 A T 8: 16,208,145 (GRCm39) M1270K probably benign Het
Cyp2c66 T A 19: 39,175,060 (GRCm39) F487I possibly damaging Het
Dpp8 T C 9: 64,973,784 (GRCm39) probably benign Het
Duoxa1 A T 2: 122,136,861 (GRCm39) probably benign Het
Edil3 A G 13: 89,325,399 (GRCm39) K263E probably damaging Het
Fat2 A G 11: 55,200,035 (GRCm39) L1013P probably damaging Het
Fras1 T C 5: 96,815,246 (GRCm39) probably benign Het
Gab1 A G 8: 81,496,297 (GRCm39) S668P probably damaging Het
Galnt14 T C 17: 73,852,030 (GRCm39) T130A probably damaging Het
Gm10192 G A 4: 97,071,109 (GRCm39) H99Y unknown Het
Gm5592 A G 7: 40,938,811 (GRCm39) T698A possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Gsdma3 A G 11: 98,522,017 (GRCm39) K149R probably benign Het
Igkv4-71 A G 6: 69,220,411 (GRCm39) S29P probably damaging Het
Igsf10 C T 3: 59,236,015 (GRCm39) V1389I probably benign Het
Ik T C 18: 36,880,386 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,962 (GRCm39) P1203S probably damaging Het
Iqsec2 G A X: 150,987,120 (GRCm39) E398K possibly damaging Het
Jmjd6 A G 11: 116,731,353 (GRCm39) V232A probably damaging Het
Klhdc9 G A 1: 171,187,895 (GRCm39) T112M possibly damaging Het
Marcks A G 10: 37,017,181 (GRCm39) probably benign Het
Mctp2 T A 7: 71,732,918 (GRCm39) T829S probably damaging Het
Mroh2a C A 1: 88,156,102 (GRCm39) A78E probably damaging Het
Mroh2a G A 1: 88,178,064 (GRCm39) D1053N probably damaging Het
Mtmr14 A T 6: 113,247,608 (GRCm39) H518L probably damaging Het
Myo5c T C 9: 75,185,571 (GRCm39) M978T probably benign Het
Nlrc3 T C 16: 3,766,775 (GRCm39) I1015V probably benign Het
Nlrp5 C A 7: 23,116,842 (GRCm39) Q189K possibly damaging Het
Or1e26 A C 11: 73,480,078 (GRCm39) L162R probably damaging Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or51f1d A G 7: 102,700,909 (GRCm39) I135V probably benign Het
Or8k35 T C 2: 86,424,423 (GRCm39) I250V probably benign Het
Otof T A 5: 30,539,705 (GRCm39) Y1051F probably benign Het
Pcdhb14 C A 18: 37,581,392 (GRCm39) T166K possibly damaging Het
Pla2g4e A G 2: 120,030,679 (GRCm39) probably benign Het
Polr3gl T C 3: 96,489,471 (GRCm39) E20G probably damaging Het
Psmd1 A G 1: 86,009,761 (GRCm39) D295G probably benign Het
Ptpn21 C A 12: 98,654,475 (GRCm39) A831S probably benign Het
Pwwp3a T A 10: 80,065,914 (GRCm39) V56E probably damaging Het
Rd3l T C 12: 111,946,596 (GRCm39) D60G probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,332,660 (GRCm39) D2624G probably benign Het
Sec31a T C 5: 100,541,066 (GRCm39) D347G probably damaging Het
Sema4g G A 19: 44,986,026 (GRCm39) R289H probably damaging Het
Sema5b C T 16: 35,480,703 (GRCm39) T761I probably benign Het
Shank3 T C 15: 89,415,591 (GRCm39) V627A possibly damaging Het
Slc25a46 C A 18: 31,742,641 (GRCm39) G75V probably benign Het
Slc45a2 T A 15: 11,025,864 (GRCm39) Y405N probably damaging Het
Spidr T C 16: 15,855,498 (GRCm39) E339G probably damaging Het
Sptbn1 A T 11: 30,067,903 (GRCm39) H1770Q probably damaging Het
Srgap1 T C 10: 121,628,140 (GRCm39) Y944C probably damaging Het
Supt20 C T 3: 54,614,390 (GRCm39) T169I probably damaging Het
Tie1 G A 4: 118,336,966 (GRCm39) Q587* probably null Het
Tmem214 A G 5: 31,029,169 (GRCm39) T203A possibly damaging Het
Tmprss15 C A 16: 78,782,838 (GRCm39) S742I probably damaging Het
Wdr87-ps T C 7: 29,231,942 (GRCm39) noncoding transcript Het
Zfhx2 A G 14: 55,300,620 (GRCm39) V2377A probably damaging Het
Zfp763 G A 17: 33,238,774 (GRCm39) H124Y possibly damaging Het
Zfp846 T C 9: 20,504,853 (GRCm39) S238P probably benign Het
Other mutations in Septin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7797:Septin1 UTSW 7 126,813,937 (GRCm39) missense unknown
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'- CAAGTACTGAGCTTTCTCCAGCCTC -3'
(R):5'- CACCTGTTTCTGGTAACAATCTAGCCC -3'

Sequencing Primer
(F):5'- AGCCTCCCCAACCAGTC -3'
(R):5'- gcctgaaactcaaagtcctcc -3'
Posted On 2014-08-18