Incidental Mutation 'R3804:Septin3'
ID 274523
Institutional Source Beutler Lab
Gene Symbol Septin3
Ensembl Gene ENSMUSG00000022456
Gene Name septin 3
Synonyms Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik
MMRRC Submission 040879-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.149) question?
Stock # R3804 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 82153003-82178775 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 82170630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000023095
SMART Domains Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456

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 benign
Transcript: ENSMUST00000116423
SMART Domains Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456

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 probably benign
Transcript: ENSMUST00000230365
Predicted Effect probably benign
Transcript: ENSMUST00000230418
Predicted Effect probably benign
Transcript: ENSMUST00000230507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230799
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,974,922 (GRCm39) E54K probably benign Het
Adgra1 A G 7: 139,425,510 (GRCm39) T8A probably benign Het
Alms1 A G 6: 85,596,629 (GRCm39) Y954C probably damaging Het
AU021092 A C 16: 5,034,626 (GRCm39) F199V possibly damaging Het
Bahcc1 C T 11: 120,174,184 (GRCm39) P1648L probably benign Het
Cacna1s T A 1: 136,034,756 (GRCm39) C1319S possibly damaging Het
Capn13 G A 17: 73,646,396 (GRCm39) P339L probably benign Het
Ccdc39 A T 3: 33,874,044 (GRCm39) M596K probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cntn5 A G 9: 9,781,668 (GRCm39) probably benign Het
Cyth4 A G 15: 78,494,002 (GRCm39) K159E probably damaging Het
Dgkz C A 2: 91,769,975 (GRCm39) R563L probably benign Het
Dnah8 A G 17: 30,889,621 (GRCm39) E718G probably benign Het
Dop1a T C 9: 86,403,048 (GRCm39) L1416P probably damaging Het
Dstyk G A 1: 132,377,464 (GRCm39) A110T probably damaging Het
Eif1 A G 11: 100,211,650 (GRCm39) K95E probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Gast T C 11: 100,227,636 (GRCm39) S73P probably damaging Het
Gmppb T C 9: 107,927,773 (GRCm39) Y176H probably damaging Het
Grap2 A G 15: 80,507,947 (GRCm39) T4A possibly damaging Het
Grm8 T G 6: 28,125,635 (GRCm39) N164H possibly damaging Het
Gstm3 G A 3: 107,871,551 (GRCm39) T210I probably benign Het
Gtf3c3 A G 1: 54,463,166 (GRCm39) probably null Het
Hmcn2 A G 2: 31,242,897 (GRCm39) probably null Het
Icam2 A G 11: 106,271,648 (GRCm39) L94P probably damaging Het
Iqcm C A 8: 76,396,021 (GRCm39) T188K possibly damaging Het
Jarid2 T A 13: 45,056,307 (GRCm39) N365K probably benign Het
Kank4 A G 4: 98,668,370 (GRCm39) S26P probably damaging Het
Lgr4 A G 2: 109,838,542 (GRCm39) K498E probably benign Het
Meltf A G 16: 31,703,816 (GRCm39) H181R probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nf1 A G 11: 79,450,347 (GRCm39) D511G probably null Het
Nhlrc3 A G 3: 53,366,052 (GRCm39) V147A possibly damaging Het
Nrap C T 19: 56,310,211 (GRCm39) D1595N probably damaging Het
Or1e16 T C 11: 73,286,776 (GRCm39) Q24R probably benign Het
Or5p4 A T 7: 107,680,378 (GRCm39) I126F probably damaging Het
Or6c212 T A 10: 129,558,918 (GRCm39) D165V possibly damaging Het
Or6n2 T A 1: 173,897,474 (GRCm39) N203K probably damaging Het
Pak3 G A X: 142,492,727 (GRCm39) V87I probably damaging Het
Pgm2l1 T C 7: 99,901,474 (GRCm39) V121A probably benign Het
Phf19 A G 2: 34,789,670 (GRCm39) L350P probably damaging Het
Phf8 T C X: 150,355,572 (GRCm39) S512P possibly damaging Het
Phkb G T 8: 86,648,858 (GRCm39) E225* probably null Het
Pif1 T A 9: 65,495,588 (GRCm39) V166E probably damaging Het
Plaa T C 4: 94,458,125 (GRCm39) D615G probably damaging Het
Prpf4b T C 13: 35,067,665 (GRCm39) probably benign Het
Rxra T C 2: 27,646,272 (GRCm39) C374R probably damaging Het
Skint4 G T 4: 111,975,378 (GRCm39) V113L probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Slc22a15 C T 3: 101,804,590 (GRCm39) G145D probably damaging Het
Slc28a1 A T 7: 80,775,969 (GRCm39) I222F probably damaging Het
Slc43a2 T C 11: 75,454,424 (GRCm39) L323P probably benign Het
Sorbs3 A G 14: 70,436,800 (GRCm39) probably benign Het
Spink10 C T 18: 62,786,485 (GRCm39) probably benign Het
Suclg2 A T 6: 95,474,649 (GRCm39) I372N probably damaging Het
Sun1 C A 5: 139,211,117 (GRCm39) C164* probably null Het
Tax1bp1 T C 6: 52,719,770 (GRCm39) F453L probably benign Het
Tmem54 A G 4: 129,002,013 (GRCm39) N9S probably benign Het
Tmx4 A G 2: 134,462,497 (GRCm39) W145R probably damaging Het
Top1 A G 2: 160,544,688 (GRCm39) H268R probably damaging Het
Ttn A G 2: 76,641,075 (GRCm39) L13598P probably damaging Het
Vmn1r40 A G 6: 89,691,991 (GRCm39) I269M probably benign Het
Wdr7 G T 18: 63,853,907 (GRCm39) R80L probably benign Het
Zap70 A T 1: 36,810,223 (GRCm39) Q111L possibly damaging Het
Zfp808 T A 13: 62,319,897 (GRCm39) H375Q probably damaging Het
Zkscan2 A T 7: 123,094,365 (GRCm39) probably benign 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
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
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'- CTGGTCTTGAAGGAGAGCTG -3'
(R):5'- TCTGGGTTAGGTGACAGGAC -3'

Sequencing Primer
(F):5'- TCTTGAAGGAGAGCTGAGAGCC -3'
(R):5'- TGACAGGACAACGGCTTAC -3'
Posted On 2015-04-02