Incidental Mutation 'R7631:Septin12'
ID 589662
Institutional Source Beutler Lab
Gene Symbol Septin12
Ensembl Gene ENSMUSG00000022542
Gene Name septin 12
Synonyms 1700028G04Rik, 4933413B09Rik, Septin12, Sept12
MMRRC Submission 045692-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7631 (G1)
Quality Score 209.009
Status Validated
Chromosome 16
Chromosomal Location 4804722-4815716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4814320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 50 (I50F)
Ref Sequence ENSEMBL: ENSMUSP00000131062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170323] [ENSMUST00000229321] [ENSMUST00000230362]
AlphaFold A0A2R8VJU7
Predicted Effect probably damaging
Transcript: ENSMUST00000170323
AA Change: I50F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542
AA Change: I50F

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 possibly damaging
Transcript: ENSMUST00000229321
AA Change: I50F

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000230362
AA Change: I50F

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.4800 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 87% (46/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 T A 6: 34,834,606 (GRCm39) L930H possibly damaging Het
Albfm1 T C 5: 90,727,531 (GRCm39) L383S probably damaging Het
Alcam C T 16: 52,109,276 (GRCm39) probably null Het
Ankrd31 A G 13: 97,015,462 (GRCm39) H1577R probably benign Het
Arfgef1 T C 1: 10,302,694 (GRCm39) N9S probably benign Het
Cpne9 T C 6: 113,279,079 (GRCm39) V491A possibly damaging Het
Cyb5d1 A T 11: 69,285,865 (GRCm39) L57Q possibly damaging Het
Cyp7a1 T A 4: 6,272,763 (GRCm39) Q150L possibly damaging Het
D430041D05Rik A C 2: 103,979,363 (GRCm39) Y1336* probably null Het
Dcaf7 T C 11: 105,944,579 (GRCm39) V254A probably benign Het
Dchs1 T C 7: 105,408,445 (GRCm39) T1796A probably benign Het
Defa27 T A 8: 21,805,657 (GRCm39) D32E probably benign Het
Eno2 T C 6: 124,744,019 (GRCm39) E96G probably benign Het
Fbxw19 T A 9: 109,311,069 (GRCm39) Y380F probably damaging Het
Fer1l4 A T 2: 155,890,195 (GRCm39) N243K probably damaging Het
Fndc7 G A 3: 108,776,568 (GRCm39) A491V probably damaging Het
Gm14305 A G 2: 176,410,790 (GRCm39) Q15R probably benign Het
Gpr155 T C 2: 73,213,291 (GRCm39) probably benign Het
Grm5 A G 7: 87,624,513 (GRCm39) H360R probably damaging Het
Ifi203 G A 1: 173,754,688 (GRCm39) T681I unknown Het
Klc2 A G 19: 5,158,647 (GRCm39) S616P probably benign Het
Lifr A G 15: 7,214,258 (GRCm39) Y704C probably damaging Het
Lingo4 A C 3: 94,306,767 (GRCm39) D15A possibly damaging Het
Lrrc74a A T 12: 86,795,884 (GRCm39) N286Y probably damaging Het
Mcm8 A G 2: 132,669,963 (GRCm39) T374A not run Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naa25 A G 5: 121,576,791 (GRCm39) T847A possibly damaging Het
Nrxn2 T A 19: 6,531,825 (GRCm39) M763K possibly damaging Het
Onecut2 T A 18: 64,474,046 (GRCm39) M180K possibly damaging Het
Or1p4-ps1 A C 11: 74,208,357 (GRCm39) T169P unknown Het
Or2r3 T A 6: 42,448,870 (GRCm39) M81L probably benign Het
Or5m11 A T 2: 85,782,218 (GRCm39) E270D probably benign Het
Or8c13 A T 9: 38,092,002 (GRCm39) V39E probably damaging Het
Otx1 G A 11: 21,949,458 (GRCm39) Q7* probably null Het
Pabpc4 T G 4: 123,182,763 (GRCm39) D133E probably damaging Het
Pcsk5 A T 19: 17,542,144 (GRCm39) C816S probably damaging Het
Pgm2 A G 5: 64,265,522 (GRCm39) T408A possibly damaging Het
Polr2m G C 9: 71,390,757 (GRCm39) Y148* probably null Het
Reln T C 5: 22,176,933 (GRCm39) N1911S probably damaging Het
Scaf4 T C 16: 90,026,445 (GRCm39) D1124G unknown Het
Scgb1b19 C T 7: 32,986,784 (GRCm39) T18I probably damaging Het
Slc25a20 T A 9: 108,539,491 (GRCm39) M22K probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smchd1 A G 17: 71,705,684 (GRCm39) F972L probably benign Het
Spem1 T C 11: 69,712,409 (GRCm39) Y85C probably benign Het
Strip1 C T 3: 107,524,247 (GRCm39) V557I possibly damaging Het
Tcirg1 G T 19: 3,947,160 (GRCm39) Q634K probably damaging Het
Tma7 T A 9: 108,911,507 (GRCm39) probably benign Het
Tmem204 A G 17: 25,299,414 (GRCm39) L35P probably damaging Het
Trpc6 A G 9: 8,626,702 (GRCm39) T351A probably benign Het
Tubb2a A G 13: 34,259,227 (GRCm39) S188P probably damaging Het
Ubr5 C A 15: 38,029,751 (GRCm39) L485F Het
Vmn1r71 A T 7: 10,482,378 (GRCm39) S103R probably damaging Het
Vmn2r40 C T 7: 8,911,119 (GRCm39) D725N Het
Zfp473 T C 7: 44,383,128 (GRCm39) R402G possibly damaging Het
Zfp82 A T 7: 29,755,851 (GRCm39) S410R 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
R8540:Septin12 UTSW 16 4,805,481 (GRCm39) missense probably damaging 0.99
R9347:Septin12 UTSW 16 4,805,481 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAACCGTGATTATCCTTGGCTG -3'
(R):5'- TCTCCAAAATTTCCCCAGGAG -3'

Sequencing Primer
(F):5'- TGGCAATCCAGTTCTGGC -3'
(R):5'- AATTTCCCCAGGAGCAGGC -3'
Posted On 2019-10-24