Incidental Mutation 'R9152:Septin11'
| ID |
695083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin11
|
| Ensembl Gene |
ENSMUSG00000058013 |
| Gene Name |
septin 11 |
| Synonyms |
D5Ertd606e, 6230410I01Rik, Sept11 |
| MMRRC Submission |
068939-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.288)
|
| Stock # |
R9152 (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 C
at 93287329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 17
(S17P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074293
(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: S17P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: S17P
| 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: S17P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: S17P
| 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: S17P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: S17P
| 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: S17P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: S17P
| 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: S17P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: S17P
| 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
AA Change: S15P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144360
Gene: ENSMUSG00000058013
AA Change: S15P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
36 |
97 |
9.3e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (44/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
C |
A |
13: 104,613,275 (GRCm39) |
R1009S |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,609,439 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
T |
A |
13: 94,630,239 (GRCm39) |
D831E |
unknown |
Het |
| Arsa |
G |
A |
15: 89,359,995 (GRCm39) |
|
probably benign |
Het |
| Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,795,463 (GRCm39) |
K1066R |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,155,799 (GRCm39) |
M15T |
probably benign |
Het |
| Defb38 |
C |
T |
8: 19,076,558 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,021,457 (GRCm39) |
D323G |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,416,329 (GRCm39) |
D743E |
probably benign |
Het |
| Eif1ad11 |
T |
C |
12: 87,993,946 (GRCm39) |
L58P |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,808,352 (GRCm39) |
L268P |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,918,325 (GRCm39) |
A863D |
probably benign |
Het |
| Hfm1 |
T |
A |
5: 106,989,611 (GRCm39) |
R1368S |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,249,876 (GRCm39) |
G1379E |
possibly damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,539,692 (GRCm39) |
|
probably null |
Het |
| Lrit2 |
C |
T |
14: 36,794,187 (GRCm39) |
T417I |
probably damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Macroh2a1 |
CTTACCTCCAGCT |
C |
13: 56,232,004 (GRCm39) |
|
probably null |
Het |
| Mgat2 |
G |
A |
12: 69,232,497 (GRCm39) |
W357* |
probably null |
Het |
| Mlkl |
A |
G |
8: 112,046,403 (GRCm39) |
L290P |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,439 (GRCm39) |
S10T |
possibly damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,114 (GRCm39) |
I203V |
probably benign |
Het |
| Or7g32 |
A |
T |
9: 19,408,448 (GRCm39) |
I135F |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,022,589 (GRCm39) |
V853A |
|
Het |
| Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
G |
A |
7: 116,017,004 (GRCm39) |
S251L |
probably benign |
Het |
| Prkch |
T |
C |
12: 73,738,418 (GRCm39) |
M175T |
possibly damaging |
Het |
| Psg22 |
A |
T |
7: 18,460,646 (GRCm39) |
Q425L |
probably damaging |
Het |
| Qpctl |
A |
G |
7: 18,883,025 (GRCm39) |
L29P |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,499,140 (GRCm39) |
L549M |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,600,697 (GRCm39) |
E1568G |
unknown |
Het |
| Rrh |
A |
T |
3: 129,606,903 (GRCm39) |
D173E |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,877,256 (GRCm39) |
N857I |
possibly damaging |
Het |
| Selplg |
A |
G |
5: 113,957,467 (GRCm39) |
S280P |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,529,068 (GRCm39) |
V1775A |
probably damaging |
Het |
| Tep1 |
A |
C |
14: 51,104,162 (GRCm39) |
V244G |
probably benign |
Het |
| Tex24 |
A |
C |
8: 27,835,379 (GRCm39) |
E302D |
possibly damaging |
Het |
| Trav18 |
A |
G |
14: 54,069,011 (GRCm39) |
T19A |
probably benign |
Het |
| Trim56 |
T |
C |
5: 137,143,387 (GRCm39) |
D43G |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,029,056 (GRCm39) |
T1869A |
probably damaging |
Het |
| Usp22 |
A |
G |
11: 61,049,201 (GRCm39) |
C383R |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,035,192 (GRCm39) |
P87S |
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 |
|
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 |
|
|
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'- CTTTTGGAGGGAAGCTGTAAGA -3'
(R):5'- ATAGCTCGACTCTTCACAGGGG -3'
Sequencing Primer
(F):5'- GCTGTAAGAGGAGGAGGTTCC -3'
(R):5'- GGACAGCCATGATTATTAGCTTGCTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation