Incidental Mutation 'R1037:Septin5'
ID 93896
Institutional Source Beutler Lab
Gene Symbol Septin5
Ensembl Gene ENSMUSG00000072214
Gene Name septin 5
Synonyms Cdcrel1, Pnutl1, Sept5
MMRRC Submission 039136-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R1037 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 18440561-18448688 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 18441844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051160] [ENSMUST00000096987] [ENSMUST00000167388] [ENSMUST00000231244] [ENSMUST00000231335] [ENSMUST00000231956] [ENSMUST00000231622] [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
SMART Domains Protein: ENSMUSP00000094750
Gene: ENSMUSG00000072214

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 benign
Transcript: ENSMUST00000231335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231400
Predicted Effect probably benign
Transcript: ENSMUST00000231956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232152
Predicted Effect probably benign
Transcript: ENSMUST00000231622
Predicted Effect probably benign
Transcript: ENSMUST00000232653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231642
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.1%
  • 10x: 94.3%
  • 20x: 85.9%
Validation Efficiency 100% (58/58)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,144 (GRCm39) S139G probably benign Het
Abca2 T A 2: 25,328,240 (GRCm39) probably benign Het
Abcb1b A T 5: 8,875,657 (GRCm39) N610I probably benign Het
Ahnak T C 19: 8,984,982 (GRCm39) F2089L probably benign Het
Cacnb1 T C 11: 97,895,843 (GRCm39) probably benign Het
Cep57 T C 9: 13,730,275 (GRCm39) I61V possibly damaging Het
Ckap5 T C 2: 91,380,974 (GRCm39) I110T probably benign Het
Clasp2 T C 9: 113,725,702 (GRCm39) probably benign Het
Col11a1 A C 3: 113,987,801 (GRCm39) E265A probably damaging Het
Cst13 A G 2: 148,672,251 (GRCm39) probably benign Het
Cyp24a1 G A 2: 170,333,537 (GRCm39) T272M probably damaging Het
Cyp4a14 A C 4: 115,347,193 (GRCm39) L415R probably damaging Het
Dbnl T C 11: 5,746,807 (GRCm39) F179S probably damaging Het
Eepd1 T C 9: 25,498,079 (GRCm39) L388P possibly damaging Het
Exosc8 G T 3: 54,640,159 (GRCm39) A55E probably damaging Het
Fam72a G A 1: 131,461,557 (GRCm39) V81I probably damaging Het
Fasn C T 11: 120,700,277 (GRCm39) M2182I probably benign Het
Fras1 C T 5: 96,862,322 (GRCm39) P2234S probably damaging Het
Grn C A 11: 102,323,896 (GRCm39) D33E possibly damaging Het
Gsap A G 5: 21,456,163 (GRCm39) probably benign Het
H2bc15 T A 13: 21,938,417 (GRCm39) V42E probably damaging Het
Hook3 T C 8: 26,562,378 (GRCm39) Q229R possibly damaging Het
Itgb6 T C 2: 60,480,412 (GRCm39) E308G probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Lrrc4c A G 2: 97,460,330 (GRCm39) M319V probably benign Het
Mia3 T C 1: 183,138,698 (GRCm39) I672M probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mlc1 A G 15: 88,849,664 (GRCm39) L223P probably damaging Het
Mmp21 T C 7: 133,276,182 (GRCm39) K554E probably benign Het
Nup160 C T 2: 90,524,246 (GRCm39) T383I probably damaging Het
Opcml T A 9: 28,814,595 (GRCm39) D290E probably damaging Het
Or10a3b T A 7: 108,445,191 (GRCm39) T9S probably benign Het
Or4a27 T A 2: 88,559,376 (GRCm39) D189V probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Or5d38 A G 2: 87,954,573 (GRCm39) I252T probably damaging Het
Or5k14 T C 16: 58,693,333 (GRCm39) Y60C probably damaging Het
Palm3 C A 8: 84,755,901 (GRCm39) T471K probably benign Het
Prl2c5 T A 13: 13,360,492 (GRCm39) L50* probably null Het
Pzp T C 6: 128,496,389 (GRCm39) N281S probably benign Het
Qser1 T C 2: 104,590,900 (GRCm39) Y1722C probably damaging Het
Ryr3 A G 2: 112,699,453 (GRCm39) V879A probably benign Het
Sbno1 A G 5: 124,531,975 (GRCm39) S736P possibly damaging Het
Slc17a6 A G 7: 51,298,996 (GRCm39) probably benign Het
Spag17 A T 3: 100,010,433 (GRCm39) T1976S probably benign Het
Swt1 A T 1: 151,246,320 (GRCm39) probably benign Het
Tenm4 T C 7: 96,446,688 (GRCm39) W853R probably damaging Het
Thbs1 A T 2: 117,953,532 (GRCm39) Q983L probably damaging Het
Tmem191 A G 16: 17,094,347 (GRCm39) probably benign Het
Tmprss11g A T 5: 86,638,606 (GRCm39) V294D probably damaging Het
Tor1aip2 A G 1: 155,941,082 (GRCm39) S463G probably benign Het
Trim36 A G 18: 46,329,385 (GRCm39) probably benign Het
Ttc1 A G 11: 43,621,326 (GRCm39) V285A possibly damaging Het
Uckl1 C T 2: 181,214,278 (GRCm39) R303H possibly damaging Het
Vwa8 C A 14: 79,324,094 (GRCm39) C1132* probably null 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
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'- TCCAGATGAACCCAGGGTGGAATC -3'
(R):5'- CCGTTATTGGCAGCAACACTGTG -3'

Sequencing Primer
(F):5'- GCGACCCAAGTCAGAGTG -3'
(R):5'- TGGCTCCCCTAGACTGACAC -3'
Posted On 2014-01-05