Incidental Mutation 'R5426:Sept7'
ID 426890
Institutional Source Beutler Lab
Gene Symbol Sept7
Ensembl Gene ENSMUSG00000001833
Gene Name septin 7
Synonyms Cdc10
MMRRC Submission 042992-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5426 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 25252439-25308571 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 25286690 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 100 (I100N)
Ref Sequence ENSEMBL: ENSMUSP00000127641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115272] [ENSMUST00000165594]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000115272
AA Change: I100N

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833
AA Change: I100N

low complexity region 2 15 N/A INTRINSIC
Pfam:Septin 47 323 1.7e-126 PFAM
Pfam:MMR_HSR1 52 252 2.5e-8 PFAM
low complexity region 349 371 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165594
AA Change: I100N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833
AA Change: I100N

low complexity region 2 15 N/A INTRINSIC
Pfam:Septin 47 323 1.6e-126 PFAM
Pfam:MMR_HSR1 52 197 4.9e-8 PFAM
low complexity region 349 371 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217598
Meta Mutation Damage Score 0.2469 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in neurons exhibit reduced axon and dendrite length and complexity. Mice homozygous for a knock-out allele die prior to E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,294,003 (GRCm38) H122L probably damaging Het
9330182O14Rik G A 15: 40,148,536 (GRCm38) M90I unknown Het
9330182O14Rik G A 15: 40,148,537 (GRCm38) D91N unknown Het
Abca13 T A 11: 9,290,722 (GRCm38) S862T probably damaging Het
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adgb C A 10: 10,350,260 (GRCm38) A1405S probably benign Het
Adpgk T A 9: 59,297,549 (GRCm38) V86E probably damaging Het
Agfg2 G C 5: 137,667,758 (GRCm38) P80A probably damaging Het
Akap11 G A 14: 78,498,864 (GRCm38) Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 (GRCm38) R62Q probably benign Het
Als2cr12 T A 1: 58,666,886 (GRCm38) K275* probably null Het
Amd1 G T 10: 40,290,187 (GRCm38) D265E probably damaging Het
Aox4 A T 1: 58,220,094 (GRCm38) Q106L probably damaging Het
Arap2 A T 5: 62,642,816 (GRCm38) N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 (GRCm38) S874G probably damaging Het
BC067074 G A 13: 113,369,053 (GRCm38) V2239I probably benign Het
C87499 T A 4: 88,629,410 (GRCm38) probably benign Het
Ccdc166 T C 15: 75,982,096 (GRCm38) Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdk14 A G 5: 4,888,975 (GRCm38) S388P possibly damaging Het
Chgb A T 2: 132,793,533 (GRCm38) Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 (GRCm38) W109R probably damaging Het
Cyp2b9 T C 7: 26,187,655 (GRCm38) V163A probably benign Het
Dcpp2 T A 17: 23,899,313 (GRCm38) H27Q possibly damaging Het
Ddn T A 15: 98,806,466 (GRCm38) E315V possibly damaging Het
Defb29 C A 2: 152,538,948 (GRCm38) C47F probably damaging Het
Dnah7b T C 1: 46,242,206 (GRCm38) M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 (GRCm38) I854F probably damaging Het
Dsg4 T C 18: 20,458,484 (GRCm38) Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 (GRCm38) A23T unknown Het
Gemin5 A G 11: 58,125,287 (GRCm38) S1297P probably benign Het
Gm10309 A C 17: 86,498,733 (GRCm38) probably benign Het
Gm884 A T 11: 103,620,760 (GRCm38) H127Q unknown Het
Gpatch11 T A 17: 78,841,234 (GRCm38) S155R possibly damaging Het
Grin2b C A 6: 135,732,368 (GRCm38) Q1393H probably damaging Het
Heatr5b C T 17: 78,773,713 (GRCm38) C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 (GRCm38) T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 (GRCm38) I123F probably damaging Het
Kalrn A T 16: 34,262,653 (GRCm38) V644D probably damaging Het
Kifap3 A G 1: 163,779,871 (GRCm38) M1V probably null Het
Klhl11 A G 11: 100,464,116 (GRCm38) L293P probably damaging Het
Klrc3 G A 6: 129,641,550 (GRCm38) S98L probably benign Het
Med12l G A 3: 59,248,722 (GRCm38) M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 (GRCm38) probably null Het
Mybpc2 A G 7: 44,509,829 (GRCm38) V599A probably benign Het
Naalad2 T C 9: 18,347,519 (GRCm38) N487D probably benign Het
Nat8f7 T G 6: 85,707,823 (GRCm38) S12R probably benign Het
Nefm T A 14: 68,120,066 (GRCm38) probably benign Het
Nlrp5 T C 7: 23,418,201 (GRCm38) V450A probably damaging Het
Nps G A 7: 135,268,647 (GRCm38) probably null Het
Olfr1247 T C 2: 89,609,739 (GRCm38) Y121C probably damaging Het
Olfr142 T A 2: 90,252,611 (GRCm38) K126* probably null Het
Olfr159 A G 4: 43,770,168 (GRCm38) I281T probably benign Het
Olfr192 G T 16: 59,098,302 (GRCm38) P230Q possibly damaging Het
Olfr492 T C 7: 108,322,810 (GRCm38) N289D probably damaging Het
Olfr513 T C 7: 108,755,717 (GRCm38) L287P possibly damaging Het
Olfr698 C A 7: 106,752,566 (GRCm38) S274I probably benign Het
Oxct2a C A 4: 123,322,713 (GRCm38) G292W possibly damaging Het
Prr27 T C 5: 87,850,885 (GRCm38) probably benign Het
Ptx3 T C 3: 66,220,722 (GRCm38) M68T probably damaging Het
Rufy1 A G 11: 50,421,734 (GRCm38) L131S probably damaging Het
Sgms2 T C 3: 131,341,797 (GRCm38) I143V probably benign Het
Slc25a34 A G 4: 141,623,566 (GRCm38) V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 (GRCm38) D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 (GRCm38) probably null Het
Slco4a1 C A 2: 180,471,235 (GRCm38) A420D possibly damaging Het
Smap1 T C 1: 23,849,390 (GRCm38) T180A probably benign Het
Specc1l T C 10: 75,267,550 (GRCm38) S920P probably benign Het
Tgtp2 A G 11: 49,059,256 (GRCm38) M163T probably benign Het
Tiam1 G T 16: 89,865,392 (GRCm38) Q613K possibly damaging Het
Vsig10l T A 7: 43,464,823 (GRCm38) S190T probably damaging Het
Vwa3b A G 1: 37,115,671 (GRCm38) Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 (GRCm38) N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 (GRCm38) G349R probably damaging Het
Wdr70 A G 15: 7,922,105 (GRCm38) L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 (GRCm38) S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 (GRCm38) C391* probably null Het
Zfp638 A G 6: 83,976,414 (GRCm38) E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 (GRCm38) D192V probably benign Het
Zfp853 T G 5: 143,288,869 (GRCm38) Q332P unknown Het
Other mutations in Sept7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02692:Sept7 APN 9 25,296,490 (GRCm38) splice site probably benign
R0331:Sept7 UTSW 9 25,306,256 (GRCm38) missense probably benign 0.00
R1590:Sept7 UTSW 9 25,277,604 (GRCm38) missense probably damaging 0.99
R2040:Sept7 UTSW 9 25,288,236 (GRCm38) missense possibly damaging 0.79
R4935:Sept7 UTSW 9 25,306,172 (GRCm38) missense probably benign 0.03
R5246:Sept7 UTSW 9 25,299,536 (GRCm38) missense probably damaging 1.00
R5629:Sept7 UTSW 9 25,288,293 (GRCm38) missense probably damaging 1.00
R5994:Sept7 UTSW 9 25,288,198 (GRCm38) missense possibly damaging 0.52
R6177:Sept7 UTSW 9 25,293,804 (GRCm38) critical splice donor site probably null
R6246:Sept7 UTSW 9 25,307,521 (GRCm38) missense probably benign 0.00
R6735:Sept7 UTSW 9 25,303,752 (GRCm38) missense possibly damaging 0.94
R7561:Sept7 UTSW 9 25,297,855 (GRCm38) missense possibly damaging 0.77
R7837:Sept7 UTSW 9 25,288,235 (GRCm38) missense possibly damaging 0.92
R8442:Sept7 UTSW 9 25,252,642 (GRCm38) missense unknown
R8852:Sept7 UTSW 9 25,252,684 (GRCm38) missense possibly damaging 0.68
R8860:Sept7 UTSW 9 25,252,684 (GRCm38) missense possibly damaging 0.68
R9070:Sept7 UTSW 9 25,264,211 (GRCm38) splice site probably benign
R9138:Sept7 UTSW 9 25,301,465 (GRCm38) missense probably damaging 1.00
X0066:Sept7 UTSW 9 25,306,140 (GRCm38) missense possibly damaging 0.88
Z1176:Sept7 UTSW 9 25,252,556 (GRCm38) start gained probably benign
Z1177:Sept7 UTSW 9 25,301,423 (GRCm38) missense probably benign 0.31
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-09-01