Incidental Mutation 'R0521:Septin5'
ID 48590
Institutional Source Beutler Lab
Gene Symbol Septin5
Ensembl Gene ENSMUSG00000072214
Gene Name septin 5
Synonyms Cdcrel1, Pnutl1, Sept5
MMRRC Submission 038714-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R0521 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 18440561-18448688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18443647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 92 (T92A)
Ref Sequence ENSEMBL: ENSMUSP00000156292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051160] [ENSMUST00000096987] [ENSMUST00000167388] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231622] [ENSMUST00000231956] [ENSMUST00000232653]
AlphaFold Q9Z2Q6
Predicted Effect probably benign
Transcript: ENSMUST00000051160
SMART Domains Protein: ENSMUSP00000059270
Gene: ENSMUSG00000050761

DomainStartEndE-ValueType
low complexity region 7 32 N/A INTRINSIC
LRRNT 33 67 4.14e-11 SMART
low complexity region 75 94 N/A INTRINSIC
LRRCT 97 150 4.88e-14 SMART
transmembrane domain 159 181 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000096987
AA Change: T92A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: T92A

DomainStartEndE-ValueType
Pfam:Septin 41 321 1.2e-127 PFAM
Pfam:MMR_HSR1 46 190 5.1e-7 PFAM
low complexity region 355 369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167388
SMART Domains Protein: ENSMUSP00000126292
Gene: ENSMUSG00000050761

DomainStartEndE-ValueType
LRRNT 25 59 4.14e-11 SMART
low complexity region 67 86 N/A INTRINSIC
LRRCT 89 142 4.88e-14 SMART
transmembrane domain 151 173 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231244
AA Change: T92A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231246
Predicted Effect probably benign
Transcript: ENSMUST00000231335
AA Change: T101A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000231622
AA Change: T45A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000231956
AA Change: T92A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000232653
AA Change: T101A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231400
Coding Region Coverage
  • 1x: 99.2%
  • 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 is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene show no gross phenotypic changes. Partial defects in synaptic transmission is reported for one allele, and platelet secretion and modest behavioral defects reported for a different allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A T 4: 144,182,464 (GRCm39) S335T probably damaging Het
Abcb1b G A 5: 8,914,238 (GRCm39) A1203T probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Agt C A 8: 125,283,839 (GRCm39) E427* probably null Het
Angel1 G A 12: 86,769,681 (GRCm39) S193F probably benign Het
Ankrd16 T C 2: 11,794,692 (GRCm39) V359A probably benign Het
Ankrd33b T C 15: 31,367,432 (GRCm39) D36G probably damaging Het
Ano8 A T 8: 71,931,902 (GRCm39) C766S probably benign Het
Asic1 C T 15: 99,596,700 (GRCm39) R499C probably damaging Het
Atpsckmt T G 15: 31,606,103 (GRCm39) S20R probably benign Het
Bank1 C T 3: 135,919,703 (GRCm39) C364Y probably damaging Het
Bmerb1 T A 16: 13,804,676 (GRCm39) S8T possibly damaging Het
Bpifa5 C A 2: 154,008,869 (GRCm39) D223E probably benign Het
Capn5 C T 7: 97,782,089 (GRCm39) R217Q probably damaging Het
Ccm2 G A 11: 6,540,886 (GRCm39) S184N probably damaging Het
Ces5a T A 8: 94,252,286 (GRCm39) D202V probably damaging Het
Clasrp A G 7: 19,322,528 (GRCm39) I284T probably benign Het
Cog7 C A 7: 121,540,392 (GRCm39) probably null Het
Col13a1 A T 10: 61,698,525 (GRCm39) M512K unknown Het
Cps1 A C 1: 67,254,723 (GRCm39) D1304A probably benign Het
Crhbp C A 13: 95,580,403 (GRCm39) probably null Het
Ctdspl2 T A 2: 121,837,368 (GRCm39) C377* probably null Het
Ctsl G A 13: 64,513,032 (GRCm39) L297F possibly damaging Het
Ddost A G 4: 138,038,046 (GRCm39) T262A probably benign Het
Ddx4 A T 13: 112,761,313 (GRCm39) probably null Het
Ddx54 A G 5: 120,764,927 (GRCm39) I769V probably benign Het
Dock1 T A 7: 134,745,507 (GRCm39) I1463N probably benign Het
Dsg3 T A 18: 20,660,872 (GRCm39) Y404N possibly damaging Het
Epb42 T A 2: 120,859,631 (GRCm39) K186* probably null Het
Farp2 A G 1: 93,504,543 (GRCm39) probably null Het
Fbxl9 A T 8: 106,039,425 (GRCm39) L617Q probably damaging Het
Fev C A 1: 74,921,692 (GRCm39) R86L possibly damaging Het
Foxb2 G T 19: 16,849,820 (GRCm39) C395* probably null Het
Foxn3 A G 12: 99,175,765 (GRCm39) V261A probably benign Het
Fsd1 A G 17: 56,298,245 (GRCm39) D190G probably benign Het
Gm9930 A T 10: 9,410,547 (GRCm39) noncoding transcript Het
Gsdma2 A T 11: 98,545,727 (GRCm39) K260* probably null Het
Hdac7 G A 15: 97,704,380 (GRCm39) Q497* probably null Het
Hic1 G A 11: 75,057,713 (GRCm39) P392L possibly damaging Het
Hk3 C T 13: 55,162,239 (GRCm39) probably null Het
Ifna6 G T 4: 88,745,887 (GRCm39) V79F probably benign Het
Il20ra A T 10: 19,635,388 (GRCm39) Q543L probably damaging Het
Itk T A 11: 46,251,115 (GRCm39) D163V probably damaging Het
Kcnu1 T G 8: 26,400,916 (GRCm39) L688R probably damaging Het
Kdm5b T A 1: 134,545,771 (GRCm39) S977R possibly damaging Het
Kng1 G A 16: 22,879,232 (GRCm39) A45T possibly damaging Het
Map1a T G 2: 121,136,234 (GRCm39) L2350R probably damaging Het
Mdfic A G 6: 15,799,755 (GRCm39) D212G probably benign Het
Ms4a1 C A 19: 11,236,043 (GRCm39) probably null Het
Myo9a T A 9: 59,801,635 (GRCm39) F1944L probably damaging Het
Nbea A T 3: 55,915,689 (GRCm39) W928R probably damaging Het
Nfatc2ip T G 7: 125,995,751 (GRCm39) D46A possibly damaging Het
Ngly1 C T 14: 16,290,774 (GRCm38) Q419* probably null Het
Nsd2 T A 5: 34,000,682 (GRCm39) N66K probably damaging Het
Nsmce4a T C 7: 130,138,732 (GRCm39) H304R probably damaging Het
Odad2 G A 18: 7,222,676 (GRCm39) P531L possibly damaging Het
Or10a2 T A 7: 106,673,965 (GRCm39) L310Q possibly damaging Het
Or2y11 C T 11: 49,443,291 (GRCm39) T239M probably damaging Het
Or4a2 T C 2: 89,248,544 (GRCm39) Y71C probably damaging Het
Or51v8 T A 7: 103,319,696 (GRCm39) I181F possibly damaging Het
Or7e168 G A 9: 19,720,156 (GRCm39) V181I probably benign Het
Or8c20 A C 9: 38,260,499 (GRCm39) N40T probably damaging Het
Or8h9 C T 2: 86,789,190 (GRCm39) G204D probably damaging Het
Peg3 T C 7: 6,714,427 (GRCm39) E265G probably damaging Het
Pkd1 A G 17: 24,814,193 (GRCm39) S4188G probably benign Het
Pramel32 A T 4: 88,547,559 (GRCm39) N37K probably damaging Het
R3hdm1 G A 1: 128,121,440 (GRCm39) V315I probably benign Het
Rab24 A T 13: 55,468,738 (GRCm39) probably null Het
Rap1gap2 A T 11: 74,332,592 (GRCm39) M71K probably damaging Het
Rergl T G 6: 139,473,524 (GRCm39) K42T probably damaging Het
Setdb1 A G 3: 95,246,140 (GRCm39) V595A probably benign Het
Slc17a8 A G 10: 89,412,192 (GRCm39) S414P probably benign Het
Thnsl2 A T 6: 71,111,243 (GRCm39) D208E probably damaging Het
Tie1 A C 4: 118,333,343 (GRCm39) I841R probably damaging Het
Tll1 T G 8: 64,551,505 (GRCm39) D292A probably damaging Het
Tnfaip8l1 A T 17: 56,478,727 (GRCm39) T6S probably damaging Het
Trim17 T A 11: 58,859,320 (GRCm39) V178E probably damaging Het
Ttc27 A T 17: 75,163,544 (GRCm39) R717S possibly damaging Het
Upk2 G T 9: 44,365,418 (GRCm39) P50Q probably damaging Het
Usp9y A T Y: 1,307,880 (GRCm39) C2319S probably benign Het
Vmn2r100 A T 17: 19,742,178 (GRCm39) D184V probably damaging Het
Vmn2r9 C A 5: 108,996,154 (GRCm39) G165* probably null Het
Xkr6 A T 14: 64,056,871 (GRCm39) I261F probably benign Het
Xpnpep3 T G 15: 81,311,693 (GRCm39) I133S possibly damaging Het
Yipf1 A G 4: 107,193,387 (GRCm39) Y91C probably benign Het
Zfp442 T C 2: 150,253,169 (GRCm39) D31G possibly damaging Het
Zfp628 A T 7: 4,922,939 (GRCm39) Q387L probably damaging Het
Zfp804a C T 2: 82,089,761 (GRCm39) Q1197* probably null Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Septin5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Septin5 APN 16 18,443,680 (GRCm39) missense probably damaging 1.00
IGL02124:Septin5 APN 16 18,443,579 (GRCm39) missense probably damaging 0.98
IGL02211:Septin5 APN 16 18,443,629 (GRCm39) missense probably damaging 1.00
IGL02934:Septin5 APN 16 18,448,581 (GRCm39) missense probably damaging 0.99
R0518:Septin5 UTSW 16 18,443,647 (GRCm39) missense probably benign 0.02
R0627:Septin5 UTSW 16 18,444,115 (GRCm39) missense possibly damaging 0.90
R0746:Septin5 UTSW 16 18,441,975 (GRCm39) missense probably damaging 1.00
R0891:Septin5 UTSW 16 18,443,595 (GRCm39) missense probably damaging 1.00
R1037:Septin5 UTSW 16 18,441,844 (GRCm39) splice site probably benign
R1850:Septin5 UTSW 16 18,443,960 (GRCm39) missense probably damaging 1.00
R2044:Septin5 UTSW 16 18,441,762 (GRCm39) missense probably benign 0.10
R3872:Septin5 UTSW 16 18,441,723 (GRCm39) missense probably damaging 0.98
R4498:Septin5 UTSW 16 18,442,142 (GRCm39) missense probably damaging 1.00
R5503:Septin5 UTSW 16 18,442,118 (GRCm39) missense probably benign 0.00
R5963:Septin5 UTSW 16 18,442,962 (GRCm39) splice site probably null
R6286:Septin5 UTSW 16 18,442,127 (GRCm39) missense probably damaging 0.99
R7014:Septin5 UTSW 16 18,443,659 (GRCm39) missense probably damaging 1.00
R7909:Septin5 UTSW 16 18,443,372 (GRCm39) missense probably damaging 1.00
R8708:Septin5 UTSW 16 18,443,622 (GRCm39) missense probably benign 0.01
R8888:Septin5 UTSW 16 18,441,861 (GRCm39) missense possibly damaging 0.81
R8895:Septin5 UTSW 16 18,441,861 (GRCm39) missense possibly damaging 0.81
R9210:Septin5 UTSW 16 18,442,961 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GCCACTCTCATCACGGAAATACTGC -3'
(R):5'- TGGCCCGGAGTATACATTCAGACAG -3'

Sequencing Primer
(F):5'- ATAGTCAGTGATGGGCTTCCAAC -3'
(R):5'- TTCAGACAGAGACTGAAGCC -3'
Posted On 2013-06-12