Incidental Mutation 'IGL02476:Septin11'
| ID |
294974 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Septin11
|
| Ensembl Gene |
ENSMUSG00000058013 |
| Gene Name |
septin 11 |
| Synonyms |
D5Ertd606e, 6230410I01Rik, Sept11 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.288)
|
| Stock # |
IGL02476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
93241296-93324306 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 93296443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074733]
[ENSMUST00000074733]
[ENSMUST00000074733]
[ENSMUST00000201421]
[ENSMUST00000201421]
[ENSMUST00000201421]
[ENSMUST00000201700]
[ENSMUST00000201700]
[ENSMUST00000201700]
[ENSMUST00000202196]
[ENSMUST00000202196]
[ENSMUST00000202196]
[ENSMUST00000202217]
[ENSMUST00000202217]
[ENSMUST00000202217]
[ENSMUST00000202308]
[ENSMUST00000202308]
[ENSMUST00000202308]
[ENSMUST00000202415]
|
| AlphaFold |
Q8C1B7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074733
|
| SMART Domains |
Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000074733
|
| SMART Domains |
Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000074733
|
| SMART Domains |
Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000201421
|
| SMART Domains |
Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000201421
|
| SMART Domains |
Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000201421
|
| SMART Domains |
Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
| 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 |
noncoding transcript
Transcript: ENSMUST00000201695
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000201700
|
| SMART Domains |
Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000201700
|
| SMART Domains |
Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000201700
|
| SMART Domains |
Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
| 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000202217
|
| SMART Domains |
Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000202217
|
| SMART Domains |
Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000202217
|
| SMART Domains |
Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
| 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 null
Transcript: ENSMUST00000202308
|
| SMART Domains |
Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
| 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 |
probably null
Transcript: ENSMUST00000202308
|
| SMART Domains |
Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
| 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 |
probably null
Transcript: ENSMUST00000202308
|
| SMART Domains |
Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
| 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 |
probably benign
Transcript: ENSMUST00000202415
|
| SMART Domains |
Protein: ENSMUSP00000144360
Gene: ENSMUSG00000058013
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
36 |
97 |
9.3e-11 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
T |
A |
1: 74,320,683 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
A |
G |
17: 75,003,386 (GRCm39) |
E4752G |
possibly damaging |
Het |
| Chd1 |
C |
T |
17: 15,954,535 (GRCm39) |
P468S |
probably damaging |
Het |
| Cnot3 |
A |
G |
7: 3,661,067 (GRCm39) |
D556G |
probably benign |
Het |
| Csnk1d |
A |
G |
11: 120,863,338 (GRCm39) |
Y201H |
probably damaging |
Het |
| Dhtkd1 |
A |
G |
2: 5,935,717 (GRCm39) |
S132P |
possibly damaging |
Het |
| Dhx58 |
G |
T |
11: 100,593,090 (GRCm39) |
Q206K |
probably benign |
Het |
| Dio1 |
C |
A |
4: 107,149,574 (GRCm39) |
V195F |
probably damaging |
Het |
| Dio3 |
T |
C |
12: 110,245,916 (GRCm39) |
V84A |
probably benign |
Het |
| Dnai4 |
T |
A |
4: 102,944,545 (GRCm39) |
I3L |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,314,693 (GRCm39) |
K163R |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,950 (GRCm39) |
S375T |
probably damaging |
Het |
| Fbrs |
A |
G |
7: 127,086,841 (GRCm39) |
D73G |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,390,393 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
A |
G |
X: 166,280,851 (GRCm39) |
V343A |
probably damaging |
Het |
| Gcc1 |
T |
C |
6: 28,420,468 (GRCm39) |
D283G |
probably benign |
Het |
| Ghr |
T |
C |
15: 3,349,528 (GRCm39) |
D550G |
probably damaging |
Het |
| Glycam1 |
G |
A |
15: 103,471,307 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
G |
11: 102,369,417 (GRCm39) |
S1374P |
probably damaging |
Het |
| Grm1 |
A |
T |
10: 10,565,197 (GRCm39) |
M1037K |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
| Ifi205 |
G |
T |
1: 173,842,627 (GRCm39) |
N356K |
probably damaging |
Het |
| Ifi206 |
A |
G |
1: 173,309,132 (GRCm39) |
L288P |
probably benign |
Het |
| Ift57 |
T |
C |
16: 49,584,252 (GRCm39) |
V291A |
probably benign |
Het |
| Kif13a |
A |
C |
13: 46,938,772 (GRCm39) |
C166G |
probably damaging |
Het |
| Lypd6 |
A |
G |
2: 50,080,740 (GRCm39) |
T143A |
possibly damaging |
Het |
| Mtus2 |
G |
A |
5: 148,014,748 (GRCm39) |
A514T |
probably benign |
Het |
| Neu2 |
T |
C |
1: 87,524,674 (GRCm39) |
W220R |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,377,612 (GRCm39) |
S155G |
possibly damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,015 (GRCm39) |
E286G |
probably damaging |
Het |
| Onecut3 |
A |
G |
10: 80,349,724 (GRCm39) |
E406G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,799 (GRCm39) |
D236E |
probably benign |
Het |
| Pck1 |
A |
G |
2: 173,000,075 (GRCm39) |
H502R |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,102,188 (GRCm39) |
Y313C |
probably damaging |
Het |
| Rhox3f |
A |
T |
X: 36,763,192 (GRCm39) |
|
probably benign |
Het |
| Rpl34 |
A |
G |
3: 130,520,613 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
T |
C |
1: 36,595,031 (GRCm39) |
K31E |
probably damaging |
Het |
| Slc4a9 |
T |
A |
18: 36,668,498 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
A |
2: 127,059,408 (GRCm39) |
S434T |
probably benign |
Het |
| Snx13 |
A |
T |
12: 35,136,940 (GRCm39) |
I134F |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,369 (GRCm39) |
S407P |
probably benign |
Het |
| Tbc1d19 |
T |
C |
5: 54,046,755 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
T |
10: 56,074,638 (GRCm39) |
Q192K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,148,560 (GRCm39) |
C1681* |
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,043 (GRCm39) |
I148F |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,162,781 (GRCm39) |
V187A |
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 |
|
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 |
|
R5826:Septin11
|
UTSW |
5 |
93,287,309 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation