Incidental Mutation 'R5246:Septin7'
| ID |
401155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin7
|
| Ensembl Gene |
ENSMUSG00000001833 |
| Gene Name |
septin 7 |
| Synonyms |
Cdc10, Sept7 |
| MMRRC Submission |
042817-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
25163735-25219867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25210832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 289
(L289M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115272]
[ENSMUST00000165594]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115272
AA Change: L289M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110927
Gene: ENSMUSG00000001833
AA Change: L289M
| 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 damaging
Transcript: ENSMUST00000165594
AA Change: L289M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127641
Gene: ENSMUSG00000001833
AA Change: L289M
| 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
T |
A |
10: 14,302,509 (GRCm39) |
Y968F |
probably damaging |
Het |
| Bltp1 |
G |
A |
3: 37,102,199 (GRCm39) |
R1299Q |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,803,757 (GRCm39) |
P2138S |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,846,913 (GRCm39) |
|
probably null |
Het |
| Cep55 |
T |
A |
19: 38,058,119 (GRCm39) |
D237E |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,525,434 (GRCm39) |
S503T |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,079,671 (GRCm39) |
Y25C |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,156,410 (GRCm39) |
T444I |
possibly damaging |
Het |
| Epb41l4b |
G |
T |
4: 57,040,989 (GRCm39) |
N491K |
probably damaging |
Het |
| Gm9776 |
A |
T |
13: 94,495,065 (GRCm39) |
|
probably benign |
Het |
| Lrcol1 |
A |
C |
5: 110,502,377 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lrp1b |
A |
G |
2: 41,360,952 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,874 (GRCm39) |
I50L |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,612,212 (GRCm39) |
K1286* |
probably null |
Het |
| Pramel22 |
G |
T |
4: 143,382,127 (GRCm39) |
P190T |
probably benign |
Het |
| Prss46 |
T |
A |
9: 110,679,102 (GRCm39) |
V101D |
probably damaging |
Het |
| Rint1 |
T |
A |
5: 24,005,809 (GRCm39) |
W164R |
probably damaging |
Het |
| Rnf139 |
G |
A |
15: 58,771,552 (GRCm39) |
V526I |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,140 (GRCm39) |
D491V |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,036 (GRCm39) |
T790A |
possibly damaging |
Het |
| Scn8a |
T |
C |
15: 100,908,938 (GRCm39) |
L802P |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,936,646 (GRCm39) |
E435G |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 142,100,317 (GRCm39) |
T1449K |
possibly damaging |
Het |
| Spry1 |
A |
G |
3: 37,696,916 (GRCm39) |
Y53C |
probably damaging |
Het |
| Srpk3 |
C |
T |
X: 72,818,555 (GRCm39) |
R82* |
probably null |
Het |
| Tmcc1 |
A |
G |
6: 116,020,381 (GRCm39) |
V142A |
probably damaging |
Het |
| Vmn2r45 |
T |
G |
7: 8,486,251 (GRCm39) |
T346P |
probably benign |
Het |
| Wdr25 |
A |
G |
12: 108,993,382 (GRCm39) |
I533V |
probably benign |
Het |
| Zfp292 |
A |
C |
4: 34,805,842 (GRCm39) |
Y2401D |
possibly damaging |
Het |
|
| Other mutations in Septin7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02692:Septin7
|
APN |
9 |
25,207,786 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGTATAGTTCTGTGCCAG -3'
(R):5'- TCCTACTCACCAGTTCTGAAGC -3'
Sequencing Primer
(F):5'- AGTTCTGTGCCAGTACTAAACC -3'
(R):5'- ACCAGTTCTGAAGCTATGCACATTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation