Incidental Mutation 'R1690:Septin12'
ID 191737
Institutional Source Beutler Lab
Gene Symbol Septin12
Ensembl Gene ENSMUSG00000022542
Gene Name septin 12
Synonyms 1700028G04Rik, 4933413B09Rik, Septin12, Sept12
MMRRC Submission 039723-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R1690 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 4804722-4815716 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4806378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 261 (V261A)
Ref Sequence ENSEMBL: ENSMUSP00000155459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170323] [ENSMUST00000229321] [ENSMUST00000230362]
AlphaFold A0A2R8VJU7
Predicted Effect probably damaging
Transcript: ENSMUST00000170323
AA Change: V261A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131062
Gene: ENSMUSG00000022542
AA Change: V261A

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 damaging
Transcript: ENSMUST00000229321
AA Change: V261A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000230362
AA Change: V261A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230878
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A G 7: 28,610,950 (GRCm39) S263P probably damaging Het
Adcy10 A G 1: 165,347,494 (GRCm39) E403G probably damaging Het
Adgrg7 A T 16: 56,615,993 (GRCm39) V11E probably damaging Het
Arhgap35 A G 7: 16,297,206 (GRCm39) C620R probably damaging Het
Cfap43 A G 19: 47,739,505 (GRCm39) probably null Het
Cfap54 A G 10: 92,871,304 (GRCm39) S639P possibly damaging Het
Csf2rb T C 15: 78,232,844 (GRCm39) V717A probably benign Het
D17H6S53E A G 17: 35,346,188 (GRCm39) D33G possibly damaging Het
Dpf2 C T 19: 5,955,490 (GRCm39) R131Q probably damaging Het
Dtx3l C T 16: 35,753,638 (GRCm39) A323T probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fgf15 A G 7: 144,453,665 (GRCm39) S213G probably damaging Het
Fmn1 T A 2: 113,355,827 (GRCm39) F756Y unknown Het
Hnrnpk T A 13: 58,548,168 (GRCm39) T13S probably benign Het
Htr3b T A 9: 48,848,394 (GRCm39) M284L possibly damaging Het
Itgal T C 7: 126,901,289 (GRCm39) M225T possibly damaging Het
Lipi A G 16: 75,338,013 (GRCm39) Y454H probably damaging Het
Lrit3 T C 3: 129,594,394 (GRCm39) K61R probably damaging Het
Lta4h A G 10: 93,320,554 (GRCm39) D583G probably benign Het
Mettl17 T A 14: 52,128,918 (GRCm39) V396D probably damaging Het
Nlrc4 G A 17: 74,744,518 (GRCm39) R788* probably null Het
Or8k25 T A 2: 86,244,298 (GRCm39) I33F probably benign Het
Pepd G A 7: 34,730,782 (GRCm39) G278D probably damaging Het
Pramel23 T C 4: 143,424,693 (GRCm39) E250G probably benign Het
Prkcsh T A 9: 21,921,871 (GRCm39) D245E probably damaging Het
Prlr A T 15: 10,317,676 (GRCm39) D84V probably damaging Het
Pth2r C T 1: 65,411,462 (GRCm39) T333I probably benign Het
Ptk2 T A 15: 73,134,459 (GRCm39) I547F probably damaging Het
Rab11fip2 A T 19: 59,925,732 (GRCm39) S162T probably damaging Het
Rnf41 C A 10: 128,271,329 (GRCm39) Q80K possibly damaging Het
Scn7a T G 2: 66,506,287 (GRCm39) D1534A probably damaging Het
Sh2d4a T C 8: 68,747,101 (GRCm39) S110P probably benign Het
Soat1 A T 1: 156,272,144 (GRCm39) S114T probably benign Het
Taar8a A G 10: 23,952,813 (GRCm39) Y139C probably damaging Het
Tcf12 A G 9: 71,777,354 (GRCm39) probably null Het
Tmem202 T A 9: 59,426,391 (GRCm39) R258S possibly damaging Het
Ttc39b A T 4: 83,145,414 (GRCm39) I604N probably damaging Het
Vit A G 17: 78,932,294 (GRCm39) D467G probably damaging Het
Zc3hc1 A G 6: 30,390,940 (GRCm39) V21A probably damaging Het
Zfp608 T A 18: 55,120,706 (GRCm39) I294F possibly damaging Het
Zfp825 T A 13: 74,628,781 (GRCm39) H227L probably benign 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
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
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'- CATCCAGGTTGGGCAGACGC -3'
(R):5'- GGTCCTGTCAGCACCATTTATGCAC -3'

Sequencing Primer
(F):5'- CCATTGCATGCCTGCAAT -3'
(R):5'- gtgttttgccttcatgtatttcc -3'
Posted On 2014-05-14