Incidental Mutation 'R6286:Septin5'
ID 508250
Institutional Source Beutler Lab
Gene Symbol Septin5
Ensembl Gene ENSMUSG00000072214
Gene Name septin 5
Synonyms Cdcrel1, Pnutl1, Sept5
MMRRC Submission 044456-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R6286 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 18440561-18448688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18442127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 253 (V253A)
Ref Sequence ENSEMBL: ENSMUSP00000094750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051160] [ENSMUST00000096987] [ENSMUST00000167388] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231956] [ENSMUST00000232653] [ENSMUST00000231622]
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 damaging
Transcript: ENSMUST00000096987
AA Change: V253A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214
AA Change: V253A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231246
Predicted Effect probably damaging
Transcript: ENSMUST00000231335
AA Change: V262A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000231956
AA Change: V265A

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000232653
AA Change: V262A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000231622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231642
Meta Mutation Damage Score 0.2362 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 98% (40/41)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 72,187,842 (GRCm39) M1300L probably damaging Het
C3 A T 17: 57,531,118 (GRCm39) I356N probably damaging Het
Cntnap5b T A 1: 100,182,798 (GRCm39) S276T possibly damaging Het
Cts7 C T 13: 61,500,584 (GRCm39) G321E probably damaging Het
Cyp11a1 G A 9: 57,924,701 (GRCm39) probably benign Het
Ddx4 T C 13: 112,750,269 (GRCm39) T421A probably damaging Het
Dnttip2 A G 3: 122,078,049 (GRCm39) T694A probably damaging Het
Eif3b G T 5: 140,405,566 (GRCm39) D151Y probably damaging Het
Fhad1 T A 4: 141,648,209 (GRCm39) E219V probably damaging Het
Gdf2 C T 14: 33,667,057 (GRCm39) R260C probably damaging Het
Gm14295 T C 2: 176,501,361 (GRCm39) Y284H possibly damaging Het
Gm45861 A G 8: 28,019,619 (GRCm39) T745A unknown Het
Grin2a G A 16: 9,579,639 (GRCm39) T208I possibly damaging Het
Ide T A 19: 37,255,409 (GRCm39) Y798F unknown Het
Llgl1 G A 11: 60,600,358 (GRCm39) G569D probably damaging Het
Mrpl9 G C 3: 94,351,097 (GRCm39) E92D probably benign Het
Muc16 T A 9: 18,555,685 (GRCm39) H3536L unknown Het
Nasp T C 4: 116,461,985 (GRCm39) Y526C probably damaging Het
Nfx1 A G 4: 40,986,728 (GRCm39) N404D probably damaging Het
Nsrp1 A G 11: 76,940,269 (GRCm39) I112T probably damaging Het
Or6c7 T C 10: 129,323,497 (GRCm39) L206P probably damaging Het
Or8b8 A T 9: 37,809,074 (GRCm39) I125F probably damaging Het
Oxsr1 A G 9: 119,093,948 (GRCm39) V235A probably damaging Het
Pamr1 C T 2: 102,471,293 (GRCm39) Q539* probably null Het
Pramel20 T A 4: 143,297,796 (GRCm39) V72D probably benign Het
Ptpn4 A G 1: 119,649,592 (GRCm39) probably null Het
Ranbp2 C T 10: 58,315,394 (GRCm39) A2038V probably benign Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Homo
Skic3 T C 13: 76,291,359 (GRCm39) L993P probably damaging Het
Slc22a13 C A 9: 119,037,778 (GRCm39) E117* probably null Het
Slc9c1 T C 16: 45,398,194 (GRCm39) I653T probably benign Het
Slco6c1 T A 1: 97,053,445 (GRCm39) H152L possibly damaging Het
Sp2 A C 11: 96,852,372 (GRCm39) V184G probably benign Het
Taok1 T A 11: 77,444,599 (GRCm39) H492L probably benign Het
Tas2r110 G A 6: 132,845,490 (GRCm39) D174N probably benign Het
Trim24 G A 6: 37,896,426 (GRCm39) probably null Het
Ttn G A 2: 76,581,321 (GRCm39) R21445* probably null Het
Ttn A G 2: 76,605,967 (GRCm39) Y16502H probably damaging Het
Vmn2r84 A C 10: 130,226,737 (GRCm39) M367R possibly damaging Het
Zfp46 T C 4: 136,018,320 (GRCm39) S385P probably damaging 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
R0521: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
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'- GTCGCACGTCACATCTTTGAG -3'
(R):5'- GGCTTTTGTGGGTAGCAAAGAC -3'

Sequencing Primer
(F):5'- CACGTCACATCTTTGAGGTCGTG -3'
(R):5'- TGTGGGTAGCAAAGACACCCAC -3'
Posted On 2018-03-15