Incidental Mutation 'R4986:Septin11'
| ID |
385874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin11
|
| Ensembl Gene |
ENSMUSG00000058013 |
| Gene Name |
septin 11 |
| Synonyms |
D5Ertd606e, 6230410I01Rik, Sept11 |
| MMRRC Submission |
042580-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.288)
|
| Stock # |
R4986 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
93241296-93324306 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93309100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 203
(V203A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074733]
[ENSMUST00000201421]
[ENSMUST00000201700]
[ENSMUST00000202196]
[ENSMUST00000202217]
[ENSMUST00000202308]
|
| AlphaFold |
Q8C1B7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074733
AA Change: V260A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074293
Gene: ENSMUSG00000058013
AA Change: V260A
| 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 damaging
Transcript: ENSMUST00000201421
AA Change: V260A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143928
Gene: ENSMUSG00000058013
AA Change: V260A
| 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 damaging
Transcript: ENSMUST00000201700
AA Change: V260A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143901
Gene: ENSMUSG00000058013
AA Change: V260A
| 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 damaging
Transcript: ENSMUST00000202196
AA Change: V203A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144573
Gene: ENSMUSG00000058013
AA Change: V203A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
1 |
204 |
5.9e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202217
AA Change: V260A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144235
Gene: ENSMUSG00000058013
AA Change: V260A
| 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 damaging
Transcript: ENSMUST00000202308
AA Change: V260A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144136
Gene: ENSMUSG00000058013
AA Change: V260A
| 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 |
|
| Meta Mutation Damage Score |
0.3530 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
| Validation Efficiency |
95% (41/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
| Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
| Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
| Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
| Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
| Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
| Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
| Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
| Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
| Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
| Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
| Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
| Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
| Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
| Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
| Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
| Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
| Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
| Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
| Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
| Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
| Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
| Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGACCCCTCTCTGATGGG -3'
(R):5'- GTCTACCTGCCCTACTGATGAC -3'
Sequencing Primer
(F):5'- GGACAGGAGCTCTGATTGG -3'
(R):5'- CATTTCTTCATCACGGGC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation