Incidental Mutation 'R8540:Septin12'
ID 659383
Institutional Source Beutler Lab
Gene Symbol Septin12
Ensembl Gene ENSMUSG00000022542
Gene Name septin 12
Synonyms 1700028G04Rik, 4933413B09Rik, Septin12, Sept12
MMRRC Submission 068506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R8540 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 4804722-4815716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4805481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 304 (H304R)
Ref Sequence ENSEMBL: ENSMUSP00000154901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170323] [ENSMUST00000229321] [ENSMUST00000230362]
AlphaFold A0A2R8VJU7
Predicted Effect probably benign
Transcript: ENSMUST00000170323
SMART Domains Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
Pfam:Septin 44 277 1.4e-85 PFAM
Pfam:MMR_HSR1 49 248 3.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229321
Predicted Effect probably damaging
Transcript: ENSMUST00000230362
AA Change: H304R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (37/37)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Chimeric male mice are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 A T 6: 140,579,437 (GRCm39) I225L probably benign Het
Aebp2 A G 6: 140,579,439 (GRCm39) I225M probably benign Het
Ap2a1 C A 7: 44,553,750 (GRCm39) G566C probably damaging Het
Cdk15 T C 1: 59,349,992 (GRCm39) V328A possibly damaging Het
Cyld G A 8: 89,473,568 (GRCm39) G929D probably damaging Het
Ddx50 G A 10: 62,476,569 (GRCm39) L235F possibly damaging Het
Dlg5 T C 14: 24,208,767 (GRCm39) D813G probably damaging Het
Epb41l3 C T 17: 69,593,757 (GRCm39) T797M probably damaging Het
Foxred2 G A 15: 77,836,212 (GRCm39) R382W probably damaging Het
Gm5798 T A 14: 41,070,674 (GRCm39) I28N possibly damaging Het
Grb14 C T 2: 64,851,478 (GRCm39) V91M probably benign Het
Ints6 T C 14: 62,934,353 (GRCm39) D718G probably benign Het
Man2a1 C A 17: 64,965,982 (GRCm39) H307N probably benign Het
Mylk T C 16: 34,750,257 (GRCm39) Y1199H possibly damaging Het
Nim1k T C 13: 120,175,718 (GRCm39) S163G probably benign Het
Or1r1 A G 11: 73,875,153 (GRCm39) F94L probably damaging Het
Or51f5 G C 7: 102,424,339 (GRCm39) A203P possibly damaging Het
Or5ac16 A T 16: 59,022,323 (GRCm39) H155Q possibly damaging Het
Or8h6 C A 2: 86,703,776 (GRCm39) C97F probably damaging Het
Phyhip A G 14: 70,704,594 (GRCm39) D271G probably benign Het
Pramel27 T A 4: 143,579,496 (GRCm39) S360R probably benign Het
Pycr2 G A 1: 180,734,178 (GRCm39) A187T possibly damaging Het
Ryr3 T A 2: 112,630,367 (GRCm39) E2148V probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Ssx2ip T C 3: 146,124,114 (GRCm39) V43A probably benign Het
Syne2 A T 12: 76,141,148 (GRCm39) N6087Y probably damaging Het
Tbc1d4 A T 14: 101,845,712 (GRCm39) I62N probably damaging Het
Ttn C T 2: 76,573,337 (GRCm39) G24106D probably damaging Het
Uhrf1 T A 17: 56,612,105 (GRCm39) I3N probably damaging Het
Urgcp A C 11: 5,667,915 (GRCm39) L141R probably damaging Het
Ush2a G A 1: 188,274,858 (GRCm39) R1777H probably benign Het
Vamp3 A G 4: 151,135,507 (GRCm39) V37A possibly damaging Het
Vmn1r172 C T 7: 23,359,498 (GRCm39) L128F possibly damaging Het
Vmn1r76 A G 7: 11,664,897 (GRCm39) Y71H probably damaging Het
Vmn2r111 C T 17: 22,778,023 (GRCm39) probably null Het
Vmn2r111 T A 17: 22,778,024 (GRCm39) N552Y probably damaging Het
Vmn2r81 A T 10: 79,129,065 (GRCm39) N652I probably damaging Het
Vmn2r87 T C 10: 130,314,762 (GRCm39) N275D possibly damaging Het
Wrn T A 8: 33,842,154 (GRCm39) I47F probably damaging Het
Other mutations in Septin12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1521:Septin12 UTSW 16 4,814,340 (GRCm39) missense probably damaging 1.00
R1542:Septin12 UTSW 16 4,810,159 (GRCm39) missense probably benign 0.02
R1618:Septin12 UTSW 16 4,814,340 (GRCm39) missense probably damaging 1.00
R1690:Septin12 UTSW 16 4,806,378 (GRCm39) missense probably damaging 1.00
R1912:Septin12 UTSW 16 4,806,417 (GRCm39) missense probably damaging 1.00
R2131:Septin12 UTSW 16 4,809,643 (GRCm39) missense probably damaging 1.00
R2138:Septin12 UTSW 16 4,810,070 (GRCm39) missense probably damaging 1.00
R4673:Septin12 UTSW 16 4,809,807 (GRCm39) missense probably damaging 1.00
R5020:Septin12 UTSW 16 4,811,620 (GRCm39) missense probably damaging 1.00
R5328:Septin12 UTSW 16 4,811,857 (GRCm39) missense possibly damaging 0.96
R6063:Septin12 UTSW 16 4,810,127 (GRCm39) missense probably damaging 1.00
R7104:Septin12 UTSW 16 4,809,857 (GRCm39) missense probably damaging 1.00
R7142:Septin12 UTSW 16 4,806,226 (GRCm39) missense unknown
R7317:Septin12 UTSW 16 4,809,599 (GRCm39) missense probably damaging 0.98
R7382:Septin12 UTSW 16 4,806,346 (GRCm39) missense probably damaging 1.00
R7560:Septin12 UTSW 16 4,810,055 (GRCm39) missense possibly damaging 0.91
R7631:Septin12 UTSW 16 4,814,320 (GRCm39) missense probably damaging 0.97
R9347:Septin12 UTSW 16 4,805,481 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CACATAGATGCTCTAGGGTGTG -3'
(R):5'- GGCGCACTGTGAGTTTCTTC -3'

Sequencing Primer
(F):5'- TAGCAGGTTTGGGCCACG -3'
(R):5'- CACTGTGAGTTTCTTCTCCTGAGAG -3'
Posted On 2021-01-18