Incidental Mutation 'R7257:Septin3'
ID 564370
Institutional Source Beutler Lab
Gene Symbol Septin3
Ensembl Gene ENSMUSG00000022456
Gene Name septin 3
Synonyms Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 82153003-82178775 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 82173414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 249 (A249T)
Ref Sequence ENSEMBL: ENSMUSP00000112124 (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: A249T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: A249T

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: A249T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: A249T

DomainStartEndE-ValueType
Pfam:Septin 45 322 1.2e-116 PFAM
Pfam:MMR_HSR1 50 195 3.5e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000230365
AA Change: A249T

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000230418
Predicted Effect probably damaging
Transcript: ENSMUST00000230507
AA Change: A105T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Oca2 G A 7: 55,929,286 (GRCm39) probably benign Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y 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
R5954:Septin3 UTSW 15 82,174,628 (GRCm39) missense probably damaging 1.00
R6434:Septin3 UTSW 15 82,163,804 (GRCm39) missense possibly damaging 0.92
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'- TTTTCAAGGGGCTGAGCACTG -3'
(R):5'- TCCTTAAGGGTAGCCTCCAG -3'

Sequencing Primer
(F):5'- GAGACTAGCACTGAGCAT -3'
(R):5'- AGAATACTGACACTTTGACCTCTTGC -3'
Posted On 2019-06-26