Incidental Mutation 'R6641:Septin11'
| ID |
525793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin11
|
| Ensembl Gene |
ENSMUSG00000058013 |
| Gene Name |
septin 11 |
| Synonyms |
D5Ertd606e, 6230410I01Rik, Sept11 |
| MMRRC Submission |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.288)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
93241296-93324306 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93287411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 42
(I42N)
|
| 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: I44N
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: I44N
| 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: I44N
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: I44N
| 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 |
possibly damaging
Transcript: ENSMUST00000201700
AA Change: I44N
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: I44N
| 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: I44N
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: I44N
| 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: I44N
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: I44N
| 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 damaging
Transcript: ENSMUST00000202415
AA Change: I42N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144360
Gene: ENSMUSG00000058013
AA Change: I42N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
36 |
97 |
9.3e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Klk10 |
G |
T |
7: 43,434,324 (GRCm39) |
D239Y |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
probably benign |
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 |
|
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 |
|
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'- ATCCGTGTATGTCACAAAGATCTTG -3'
(R):5'- CATGCGTGACCACAGAACAG -3'
Sequencing Primer
(F):5'- GTCACAAAGATCTTGGAAATAATGGC -3'
(R):5'- TGCGTGACCACAGAACAGAAATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation