Incidental Mutation 'IGL02692:Sept7'
ID303812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sept7
Ensembl Gene ENSMUSG00000001833
Gene Nameseptin 7
SynonymsCdc10
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02692
Quality Score
Status
Chromosome9
Chromosomal Location25252439-25308571 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 25296490 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115272] [ENSMUST00000165594]
Predicted Effect probably benign
Transcript: ENSMUST00000115272
SMART Domains Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000165594
SMART Domains Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833

DomainStartEndE-ValueType
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: ENSMUST00000213435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217598
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A C 10: 100,603,548 S72R probably benign Het
4930544G11Rik T C 6: 65,952,808 V9A probably damaging Het
Actl11 A G 9: 107,929,308 N277D probably benign Het
Adam2 T A 14: 66,074,087 I57F probably damaging Het
Adgrf1 T C 17: 43,303,778 F251S probably damaging Het
Anapc15-ps T C 10: 95,673,227 I64V probably benign Het
Anapc4 T C 5: 52,864,529 V651A probably damaging Het
Atl2 T C 17: 79,865,053 N163D probably benign Het
B4galnt3 G A 6: 120,210,311 R708C probably damaging Het
Capza2 C T 6: 17,654,116 Q56* probably null Het
Cspg4 T A 9: 56,887,454 H824Q probably benign Het
Dock7 G A 4: 98,987,386 P1106S probably damaging Het
Fat4 A G 3: 38,951,086 Y1878C probably damaging Het
Grk2 A T 19: 4,290,688 probably benign Het
Lmbrd2 G A 15: 9,149,068 V13I possibly damaging Het
Loxhd1 G T 18: 77,356,913 C336F probably damaging Het
Morc1 T A 16: 48,510,233 F355L probably null Het
Mov10 C A 3: 104,800,803 E503* probably null Het
Nt5dc3 T A 10: 86,804,778 probably null Het
Olfr317 A G 11: 58,732,517 V216A probably benign Het
Phf20 T A 2: 156,298,578 M724K probably damaging Het
Pla2g2e G T 4: 138,882,559 probably benign Het
Polq T A 16: 37,060,627 V772E probably damaging Het
Rhoh A G 5: 65,892,800 R138G probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Serpina9 A C 12: 104,008,406 F163V probably damaging Het
Slc2a13 A T 15: 91,321,658 F442Y probably benign Het
Slc34a1 G A 13: 55,403,236 probably benign Het
Slc6a11 T C 6: 114,162,139 F236S probably damaging Het
Usp1 A G 4: 98,928,960 K130E probably benign Het
Zfp386 A G 12: 116,059,235 E156G probably damaging Het
Zfp957 C T 14: 79,213,385 V325I unknown Het
Other mutations in Sept7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0331:Sept7 UTSW 9 25306256 missense probably benign 0.00
R1590:Sept7 UTSW 9 25277604 missense probably damaging 0.99
R2040:Sept7 UTSW 9 25288236 missense possibly damaging 0.79
R4935:Sept7 UTSW 9 25306172 missense probably benign 0.03
R5246:Sept7 UTSW 9 25299536 missense probably damaging 1.00
R5426:Sept7 UTSW 9 25286690 missense possibly damaging 0.92
R5629:Sept7 UTSW 9 25288293 missense probably damaging 1.00
R5994:Sept7 UTSW 9 25288198 missense possibly damaging 0.52
R6177:Sept7 UTSW 9 25293804 critical splice donor site probably null
R6246:Sept7 UTSW 9 25307521 missense probably benign 0.00
R6735:Sept7 UTSW 9 25303752 missense possibly damaging 0.94
R7561:Sept7 UTSW 9 25297855 missense possibly damaging 0.77
R7837:Sept7 UTSW 9 25288235 missense possibly damaging 0.92
R8442:Sept7 UTSW 9 25252642 missense unknown
X0066:Sept7 UTSW 9 25306140 missense possibly damaging 0.88
Z1176:Sept7 UTSW 9 25252556 start gained probably benign
Z1177:Sept7 UTSW 9 25301423 missense probably benign 0.31
Posted On2015-04-16