Incidental Mutation 'R5954:Septin3'
ID 471072
Institutional Source Beutler Lab
Gene Symbol Septin3
Ensembl Gene ENSMUSG00000022456
Gene Name septin 3
Synonyms Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik
MMRRC Submission 044143-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R5954 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82153003-82178775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82174628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 140 (F140L)
Ref Sequence ENSEMBL: ENSMUSP00000155353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023095] [ENSMUST00000116423] [ENSMUST00000230365] [ENSMUST00000230418] [ENSMUST00000230507]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000023095
AA Change: F284L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: F284L

DomainStartEndE-ValueType
Pfam:DUF258 27 143 9.1e-9 PFAM
Pfam:Septin 45 322 8.9e-117 PFAM
Pfam:AIG1 49 145 2.6e-7 PFAM
Pfam:MMR_HSR1 50 220 2.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000116423
AA Change: F284L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: F284L

DomainStartEndE-ValueType
Pfam:Septin 45 322 1.2e-116 PFAM
Pfam:MMR_HSR1 50 195 3.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229067
Predicted Effect possibly damaging
Transcript: ENSMUST00000230365
AA Change: F284L

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000230418
Predicted Effect probably damaging
Transcript: ENSMUST00000230507
AA Change: F140L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230799
Meta Mutation Damage Score 0.8698 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (62/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,390 (GRCm39) I944T probably benign Het
Ank2 T C 3: 126,791,510 (GRCm39) T823A probably benign Het
Ankrd42 C G 7: 92,273,175 (GRCm39) probably null Het
Anks4b T A 7: 119,781,396 (GRCm39) N142K possibly damaging Het
Armc5 A G 7: 127,841,444 (GRCm39) E484G probably benign Het
B4galnt3 A G 6: 120,202,149 (GRCm39) F118L possibly damaging Het
Bbs12 C T 3: 37,374,151 (GRCm39) L200F possibly damaging Het
Cacna1h A G 17: 25,602,175 (GRCm39) F1555S probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Chd6 A C 2: 160,807,747 (GRCm39) H1822Q probably benign Het
Chdh C T 14: 29,753,138 (GRCm39) R16C possibly damaging Het
Cnga1 T C 5: 72,762,221 (GRCm39) D431G probably damaging Het
Dock8 G A 19: 25,148,983 (GRCm39) R1487Q probably damaging Het
Farp1 T A 14: 121,460,079 (GRCm39) V116D probably damaging Het
Fbxo24 T A 5: 137,617,943 (GRCm39) T274S probably damaging Het
Fmnl3 G A 15: 99,223,791 (GRCm39) R302W probably damaging Het
Gatad2b T C 3: 90,258,748 (GRCm39) L257P probably damaging Het
Gm20402 C T 3: 52,176,311 (GRCm39) P30L probably damaging Het
Gm7932 C T 6: 48,839,793 (GRCm39) noncoding transcript Het
Gpatch8 A T 11: 102,371,767 (GRCm39) D590E unknown Het
Herc1 T G 9: 66,358,774 (GRCm39) probably benign Het
Hsd3b2 T A 3: 98,618,875 (GRCm39) I357F probably benign Het
Ipo5 A G 14: 121,157,396 (GRCm39) Y78C probably damaging Het
Itga8 C A 2: 12,137,297 (GRCm39) A23S probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kat2a A G 11: 100,599,724 (GRCm39) V451A possibly damaging Het
Knstrn A G 2: 118,661,436 (GRCm39) probably benign Het
Med23 A G 10: 24,746,381 (GRCm39) probably benign Het
Mefv A G 16: 3,533,579 (GRCm39) Y231H probably benign Het
Or4d10 A T 19: 12,051,447 (GRCm39) I183N possibly damaging Het
Or4e5 T A 14: 52,727,624 (GRCm39) I266F probably benign Het
Or5p69 T A 7: 107,966,808 (GRCm39) I37N probably damaging Het
Or8g21 A G 9: 38,906,711 (GRCm39) S7P probably damaging Het
Pak5 G T 2: 135,958,383 (GRCm39) T235K probably benign Het
Plppr3 G T 10: 79,701,960 (GRCm39) P294Q probably benign Het
Prepl A G 17: 85,372,077 (GRCm39) F725L probably benign Het
Ptchd3 A T 11: 121,727,413 (GRCm39) probably benign Het
Rprd2 T C 3: 95,672,175 (GRCm39) E1076G probably damaging Het
Sarm1 C A 11: 78,381,428 (GRCm39) E352* probably null Het
Sccpdh T A 1: 179,508,153 (GRCm39) H14Q probably benign Het
Senp7 A G 16: 55,990,234 (GRCm39) I661V probably benign Het
Spag6 G T 2: 18,715,417 (GRCm39) Q65H probably damaging Het
Tnni3 C T 7: 4,522,539 (GRCm39) R137H probably damaging Het
Trank1 A G 9: 111,194,201 (GRCm39) S742G probably benign Het
Ucn3 T C 13: 3,991,413 (GRCm39) I80V probably benign Het
Ulk2 A T 11: 61,694,622 (GRCm39) probably benign Het
Uncx C T 5: 139,533,384 (GRCm39) S483L probably benign Het
Vps39 A G 2: 120,155,143 (GRCm39) V550A probably damaging Het
Zfp697 C A 3: 98,335,909 (GRCm39) T558K probably damaging Het
Zfp790 G T 7: 29,528,929 (GRCm39) G538V probably damaging Het
Other mutations in Septin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01843:Septin3 APN 15 82,163,814 (GRCm39) unclassified probably benign
IGL01979:Septin3 APN 15 82,168,593 (GRCm39) missense probably damaging 0.99
IGL03118:Septin3 APN 15 82,168,715 (GRCm39) splice site probably null
R0478:Septin3 UTSW 15 82,175,007 (GRCm39) missense probably damaging 1.00
R0556:Septin3 UTSW 15 82,167,966 (GRCm39) unclassified probably benign
R3804:Septin3 UTSW 15 82,170,630 (GRCm39) splice site probably benign
R3876:Septin3 UTSW 15 82,170,002 (GRCm39) missense probably damaging 1.00
R4589:Septin3 UTSW 15 82,170,092 (GRCm39) missense probably damaging 0.99
R4744:Septin3 UTSW 15 82,174,658 (GRCm39) critical splice donor site probably null
R6434:Septin3 UTSW 15 82,163,804 (GRCm39) missense possibly damaging 0.92
R7257:Septin3 UTSW 15 82,173,414 (GRCm39) missense probably damaging 0.99
R7475:Septin3 UTSW 15 82,170,657 (GRCm39) missense probably benign 0.00
R7641:Septin3 UTSW 15 82,174,983 (GRCm39) missense probably damaging 1.00
R7754:Septin3 UTSW 15 82,174,974 (GRCm39) missense probably benign 0.03
R7895:Septin3 UTSW 15 82,170,020 (GRCm39) missense probably benign 0.00
R7991:Septin3 UTSW 15 82,170,654 (GRCm39) missense probably benign 0.39
R9328:Septin3 UTSW 15 82,173,439 (GRCm39) missense probably damaging 0.99
R9347:Septin3 UTSW 15 82,167,914 (GRCm39) missense probably damaging 0.99
R9368:Septin3 UTSW 15 82,163,739 (GRCm39) missense probably damaging 0.98
R9456:Septin3 UTSW 15 82,167,352 (GRCm39) missense probably benign 0.19
R9646:Septin3 UTSW 15 82,170,088 (GRCm39) missense probably benign 0.01
RF020:Septin3 UTSW 15 82,168,662 (GRCm39) missense probably damaging 1.00
X0065:Septin3 UTSW 15 82,163,705 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GTACCGTGTCCATTAGACCTG -3'
(R):5'- AATTTTACAACCCCTCTGAGATGC -3'

Sequencing Primer
(F):5'- CCTGATTTTAAAAGTATTTGCTCGG -3'
(R):5'- CCTCTGAGATGCACTGGGATAG -3'
Posted On 2017-03-31