Incidental Mutation 'R5826:Septin11'
ID |
501608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Septin11
|
Ensembl Gene |
ENSMUSG00000058013 |
Gene Name |
septin 11 |
Synonyms |
D5Ertd606e, 6230410I01Rik, Sept11 |
MMRRC Submission |
043217-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.288)
|
Stock # |
R5826 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
93241296-93324306 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93287309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 8
(N8I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074733]
[ENSMUST00000201421]
[ENSMUST00000201700]
[ENSMUST00000202196]
[ENSMUST00000202217]
[ENSMUST00000202308]
[ENSMUST00000202415]
|
AlphaFold |
Q8C1B7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074733
AA Change: N10I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000074293 Gene: ENSMUSG00000058013 AA Change: N10I
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
38 |
311 |
5.3e-101 |
PFAM |
Pfam:MMR_HSR1
|
43 |
185 |
3.8e-8 |
PFAM |
low complexity region
|
350 |
366 |
N/A |
INTRINSIC |
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
low complexity region
|
396 |
419 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201421
AA Change: N10I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143928 Gene: ENSMUSG00000058013 AA Change: N10I
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
38 |
311 |
5.3e-101 |
PFAM |
Pfam:MMR_HSR1
|
43 |
185 |
3.8e-8 |
PFAM |
low complexity region
|
350 |
366 |
N/A |
INTRINSIC |
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
low complexity region
|
396 |
419 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201700
AA Change: N10I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000143901 Gene: ENSMUSG00000058013 AA Change: N10I
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
38 |
311 |
7.9e-99 |
PFAM |
Pfam:MMR_HSR1
|
43 |
185 |
7e-7 |
PFAM |
coiled coil region
|
333 |
409 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202196
|
SMART Domains |
Protein: ENSMUSP00000144573 Gene: ENSMUSG00000058013
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
1 |
204 |
5.9e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202217
AA Change: N10I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144235 Gene: ENSMUSG00000058013 AA Change: N10I
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
38 |
311 |
7.7e-101 |
PFAM |
Pfam:MMR_HSR1
|
43 |
185 |
4.1e-8 |
PFAM |
low complexity region
|
350 |
366 |
N/A |
INTRINSIC |
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
low complexity region
|
396 |
419 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202308
AA Change: N10I
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000144136 Gene: ENSMUSG00000058013 AA Change: N10I
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
38 |
311 |
5.1e-101 |
PFAM |
Pfam:MMR_HSR1
|
43 |
185 |
3.7e-8 |
PFAM |
low complexity region
|
350 |
366 |
N/A |
INTRINSIC |
low complexity region
|
376 |
391 |
N/A |
INTRINSIC |
low complexity region
|
396 |
419 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202415
AA Change: N8I
PolyPhen 2
Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000144360 Gene: ENSMUSG00000058013 AA Change: N8I
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
36 |
97 |
9.3e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,632,056 (GRCm39) |
H4992R |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,788,189 (GRCm39) |
D877V |
probably damaging |
Het |
Asb18 |
A |
C |
1: 89,942,260 (GRCm39) |
S14A |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,618,724 (GRCm39) |
Y147* |
probably null |
Het |
Cbfa2t2 |
A |
G |
2: 154,342,375 (GRCm39) |
I30M |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,675,242 (GRCm39) |
L1293* |
probably null |
Het |
Csmd2 |
T |
C |
4: 128,412,992 (GRCm39) |
|
probably null |
Het |
Cst9 |
G |
A |
2: 148,680,393 (GRCm39) |
V120I |
possibly damaging |
Het |
Ddah2 |
A |
G |
17: 35,279,664 (GRCm39) |
D128G |
probably damaging |
Het |
Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,925,193 (GRCm39) |
L3880Q |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,389,623 (GRCm39) |
T508A |
possibly damaging |
Het |
Ephb2 |
T |
A |
4: 136,388,048 (GRCm39) |
H685L |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,752,449 (GRCm39) |
Y387C |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,126,859 (GRCm39) |
S205P |
possibly damaging |
Het |
Has2 |
T |
A |
15: 56,531,498 (GRCm39) |
I406F |
probably damaging |
Het |
Hcrtr2 |
A |
C |
9: 76,230,569 (GRCm39) |
V73G |
probably benign |
Het |
Hsd17b4 |
A |
T |
18: 50,316,239 (GRCm39) |
Q622L |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,022 (GRCm39) |
M607K |
probably benign |
Het |
Nol6 |
T |
A |
4: 41,122,158 (GRCm39) |
D184V |
probably benign |
Het |
Noxa1 |
T |
A |
2: 24,976,253 (GRCm39) |
Q345L |
probably damaging |
Het |
Nudt6 |
T |
C |
3: 37,473,617 (GRCm39) |
T35A |
probably benign |
Het |
Phf8-ps |
C |
A |
17: 33,284,288 (GRCm39) |
R838I |
possibly damaging |
Het |
Plcg2 |
T |
C |
8: 118,337,583 (GRCm39) |
V985A |
probably benign |
Het |
Plxnc1 |
C |
T |
10: 94,635,335 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,551,962 (GRCm39) |
R2056H |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,612,246 (GRCm39) |
I49N |
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,723,898 (GRCm39) |
S1543R |
probably damaging |
Het |
Rnf135 |
A |
T |
11: 80,089,912 (GRCm39) |
N416I |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,350,399 (GRCm39) |
L825P |
probably damaging |
Het |
Slc13a3 |
T |
C |
2: 165,250,876 (GRCm39) |
I456V |
probably benign |
Het |
Slc16a3 |
A |
G |
11: 120,847,756 (GRCm39) |
T315A |
probably benign |
Het |
Sun1 |
T |
G |
5: 139,231,171 (GRCm39) |
F657C |
probably damaging |
Het |
Tmco3 |
T |
C |
8: 13,360,314 (GRCm39) |
S34P |
probably damaging |
Het |
Tnrc18 |
G |
A |
5: 142,759,502 (GRCm39) |
P778L |
unknown |
Het |
Ubxn4 |
A |
C |
1: 128,194,058 (GRCm39) |
K284T |
possibly damaging |
Het |
Usp37 |
A |
T |
1: 74,509,785 (GRCm39) |
N461K |
probably damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,133 (GRCm39) |
F259L |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
|
Other mutations in Septin11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Septin11
|
APN |
5 |
93,304,877 (GRCm39) |
splice site |
probably null |
|
IGL00984:Septin11
|
APN |
5 |
93,310,043 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01452:Septin11
|
APN |
5 |
93,309,063 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01677:Septin11
|
APN |
5 |
93,296,392 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01732:Septin11
|
APN |
5 |
93,309,085 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02476:Septin11
|
APN |
5 |
93,296,443 (GRCm39) |
critical splice donor site |
probably null |
|
I0000:Septin11
|
UTSW |
5 |
93,313,118 (GRCm39) |
missense |
probably benign |
0.05 |
R0544:Septin11
|
UTSW |
5 |
93,313,227 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0611:Septin11
|
UTSW |
5 |
93,315,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R1438:Septin11
|
UTSW |
5 |
93,296,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Septin11
|
UTSW |
5 |
93,304,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R1727:Septin11
|
UTSW |
5 |
93,304,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R3838:Septin11
|
UTSW |
5 |
93,296,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Septin11
|
UTSW |
5 |
93,310,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R4609:Septin11
|
UTSW |
5 |
93,310,113 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4717:Septin11
|
UTSW |
5 |
93,304,815 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4852:Septin11
|
UTSW |
5 |
93,310,112 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4986:Septin11
|
UTSW |
5 |
93,309,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Septin11
|
UTSW |
5 |
93,315,437 (GRCm39) |
missense |
probably benign |
0.18 |
R5896:Septin11
|
UTSW |
5 |
93,304,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R6641:Septin11
|
UTSW |
5 |
93,287,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Septin11
|
UTSW |
5 |
93,304,725 (GRCm39) |
missense |
probably benign |
0.00 |
R7479:Septin11
|
UTSW |
5 |
93,304,804 (GRCm39) |
missense |
probably damaging |
0.99 |
R7757:Septin11
|
UTSW |
5 |
93,319,323 (GRCm39) |
splice site |
probably null |
|
R8056:Septin11
|
UTSW |
5 |
93,315,435 (GRCm39) |
missense |
unknown |
|
R8103:Septin11
|
UTSW |
5 |
93,309,007 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9152:Septin11
|
UTSW |
5 |
93,287,329 (GRCm39) |
missense |
probably benign |
0.00 |
R9429:Septin11
|
UTSW |
5 |
93,321,397 (GRCm39) |
critical splice donor site |
probably null |
|
R9717:Septin11
|
UTSW |
5 |
93,296,266 (GRCm39) |
missense |
possibly damaging |
0.95 |
Z1177:Septin11
|
UTSW |
5 |
93,310,142 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1177:Septin11
|
UTSW |
5 |
93,304,822 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- GTAGTCTGCTTTTGGAGGGAAGC -3'
(R):5'- CTCTTCACAGGGGTGCCT -3'
Sequencing Primer
(F):5'- CTTTTGGAGGGAAGCTGTAAGAG -3'
(R):5'- GGACAGCCATGATTATTAGCTTGCTC -3'
|
Posted On |
2017-12-01 |