Incidental Mutation 'IGL02692:Septin7'
| ID |
303812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Septin7
|
| Ensembl Gene |
ENSMUSG00000001833 |
| Gene Name |
septin 7 |
| Synonyms |
Cdc10, Sept7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02692
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
25163735-25219867 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 25207786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115272]
[ENSMUST00000165594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115272
|
| SMART Domains |
Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
C |
10: 100,439,410 (GRCm39) |
S72R |
probably benign |
Het |
| 4930544G11Rik |
T |
C |
6: 65,929,792 (GRCm39) |
V9A |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,806,507 (GRCm39) |
N277D |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,311,536 (GRCm39) |
I57F |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,614,669 (GRCm39) |
F251S |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,509,089 (GRCm39) |
I64V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,021,871 (GRCm39) |
V651A |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,172,482 (GRCm39) |
N163D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,187,272 (GRCm39) |
R708C |
probably damaging |
Het |
| Capza2 |
C |
T |
6: 17,654,115 (GRCm39) |
Q56* |
probably null |
Het |
| Cspg4 |
T |
A |
9: 56,794,738 (GRCm39) |
H824Q |
probably benign |
Het |
| Dock7 |
G |
A |
4: 98,875,623 (GRCm39) |
P1106S |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,005,235 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Grk2 |
A |
T |
19: 4,340,716 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,155 (GRCm39) |
V13I |
possibly damaging |
Het |
| Loxhd1 |
G |
T |
18: 77,444,609 (GRCm39) |
C336F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,330,596 (GRCm39) |
F355L |
probably null |
Het |
| Mov10 |
C |
A |
3: 104,708,119 (GRCm39) |
E503* |
probably null |
Het |
| Nt5dc3 |
T |
A |
10: 86,640,642 (GRCm39) |
|
probably null |
Het |
| Or2w3b |
A |
G |
11: 58,623,343 (GRCm39) |
V216A |
probably benign |
Het |
| Phf20 |
T |
A |
2: 156,140,498 (GRCm39) |
M724K |
probably damaging |
Het |
| Pla2g2e |
G |
T |
4: 138,609,870 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
A |
16: 36,880,989 (GRCm39) |
V772E |
probably damaging |
Het |
| Rhoh |
A |
G |
5: 66,050,143 (GRCm39) |
R138G |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Serpina9 |
A |
C |
12: 103,974,665 (GRCm39) |
F163V |
probably damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,205,861 (GRCm39) |
F442Y |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,551,049 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,139,100 (GRCm39) |
F236S |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,817,197 (GRCm39) |
K130E |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,022,855 (GRCm39) |
E156G |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,825 (GRCm39) |
V325I |
unknown |
Het |
|
| Other mutations in Septin7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0331:Septin7
|
UTSW |
9 |
25,217,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1590:Septin7
|
UTSW |
9 |
25,188,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2040:Septin7
|
UTSW |
9 |
25,199,532 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4935:Septin7
|
UTSW |
9 |
25,217,468 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5246:Septin7
|
UTSW |
9 |
25,210,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Septin7
|
UTSW |
9 |
25,197,986 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5629:Septin7
|
UTSW |
9 |
25,199,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5994:Septin7
|
UTSW |
9 |
25,199,494 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6177:Septin7
|
UTSW |
9 |
25,205,100 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6246:Septin7
|
UTSW |
9 |
25,218,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6735:Septin7
|
UTSW |
9 |
25,215,048 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7561:Septin7
|
UTSW |
9 |
25,209,151 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7837:Septin7
|
UTSW |
9 |
25,199,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8442:Septin7
|
UTSW |
9 |
25,163,938 (GRCm39) |
missense |
unknown |
|
|
R8852:Septin7
|
UTSW |
9 |
25,163,980 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8860:Septin7
|
UTSW |
9 |
25,163,980 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9070:Septin7
|
UTSW |
9 |
25,175,507 (GRCm39) |
splice site |
probably benign |
|
|
R9138:Septin7
|
UTSW |
9 |
25,212,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Septin7
|
UTSW |
9 |
25,217,436 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Septin7
|
UTSW |
9 |
25,163,852 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Septin7
|
UTSW |
9 |
25,212,719 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2015-04-16 |
Incidental Mutation