Incidental Mutation 'R4321:Septin1'
ID |
323830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Septin1
|
Ensembl Gene |
ENSMUSG00000000486 |
Gene Name |
septin 1 |
Synonyms |
Sept1, Diff6, PNUTL3 |
MMRRC Submission |
041662-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
R4321 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126813619-126832302 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 126816200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 77
(P77S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032910]
[ENSMUST00000106313]
[ENSMUST00000106314]
[ENSMUST00000127710]
[ENSMUST00000133913]
[ENSMUST00000142356]
[ENSMUST00000152267]
[ENSMUST00000206772]
[ENSMUST00000206204]
|
AlphaFold |
P42209 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032910
|
SMART Domains |
Protein: ENSMUSP00000032910 Gene: ENSMUSG00000030672
Domain | Start | End | E-Value | Type |
EFh
|
29 |
57 |
9.77e-5 |
SMART |
EFh
|
99 |
127 |
4.45e1 |
SMART |
Blast:EFh
|
135 |
163 |
2e-11 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106313
AA Change: P77S
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101920 Gene: ENSMUSG00000000486 AA Change: P77S
Domain | Start | End | E-Value | Type |
Pfam:DUF258
|
1 |
74 |
4.2e-8 |
PFAM |
Pfam:MMR_HSR1
|
1 |
200 |
5.7e-8 |
PFAM |
Pfam:Septin
|
1 |
274 |
5.7e-120 |
PFAM |
coiled coil region
|
297 |
336 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106314
AA Change: P105S
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000101921 Gene: ENSMUSG00000000486 AA Change: P105S
Domain | Start | End | E-Value | Type |
Pfam:Septin
|
22 |
302 |
3.9e-124 |
PFAM |
Pfam:MMR_HSR1
|
27 |
171 |
6.2e-9 |
PFAM |
low complexity region
|
349 |
363 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127710
|
SMART Domains |
Protein: ENSMUSP00000120915 Gene: ENSMUSG00000030672
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_8
|
7 |
34 |
9.7e-3 |
PFAM |
Pfam:EF-hand_1
|
9 |
37 |
1.6e-6 |
PFAM |
Pfam:EF-hand_6
|
9 |
38 |
1.6e-6 |
PFAM |
Pfam:EF-hand_8
|
21 |
54 |
5.1e-4 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131208
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133591
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133733
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138541
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000133913
AA Change: P77S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142356
AA Change: P77S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114468 Gene: ENSMUSG00000000486 AA Change: P77S
Domain | Start | End | E-Value | Type |
Pfam:DUF258
|
1 |
74 |
1.4e-8 |
PFAM |
Pfam:MMR_HSR1
|
1 |
172 |
1.4e-8 |
PFAM |
Pfam:Septin
|
1 |
186 |
3.1e-80 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152267
AA Change: P105S
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206772
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206204
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139613
|
Meta Mutation Damage Score |
0.1259 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
95% (56/59) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimer's disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
T |
10: 29,100,887 (GRCm39) |
D420V |
probably damaging |
Het |
Als2 |
A |
C |
1: 59,206,613 (GRCm39) |
|
probably benign |
Het |
Ankrd9 |
A |
G |
12: 110,943,074 (GRCm39) |
L287P |
probably damaging |
Het |
Aoc1l1 |
T |
A |
6: 48,953,456 (GRCm39) |
D460E |
probably damaging |
Het |
Bbof1 |
A |
T |
12: 84,473,902 (GRCm39) |
R411* |
probably null |
Het |
Camta2 |
A |
T |
11: 70,569,151 (GRCm39) |
L598Q |
probably damaging |
Het |
Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
Cep85 |
G |
A |
4: 133,859,596 (GRCm39) |
T689I |
probably damaging |
Het |
Clvs1 |
T |
C |
4: 9,282,029 (GRCm39) |
|
probably benign |
Het |
Cpped1 |
T |
C |
16: 11,705,610 (GRCm39) |
T65A |
probably benign |
Het |
Daxx |
T |
C |
17: 34,130,380 (GRCm39) |
Y132H |
possibly damaging |
Het |
Dock7 |
T |
C |
4: 98,960,691 (GRCm39) |
E279G |
probably damaging |
Het |
Dok7 |
A |
T |
5: 35,237,141 (GRCm39) |
|
probably benign |
Het |
Dthd1 |
A |
T |
5: 62,976,033 (GRCm39) |
I236F |
probably damaging |
Het |
Egf |
A |
G |
3: 129,499,783 (GRCm39) |
C285R |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,483,850 (GRCm39) |
|
probably null |
Het |
Fbxw13 |
A |
C |
9: 109,010,503 (GRCm39) |
I378M |
probably benign |
Het |
Gaa |
A |
T |
11: 119,160,963 (GRCm39) |
N2I |
probably benign |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,385,503 (GRCm39) |
E847G |
probably damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,617,125 (GRCm39) |
D149G |
possibly damaging |
Het |
Ice1 |
A |
T |
13: 70,751,229 (GRCm39) |
V1619E |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,330,948 (GRCm39) |
E1752G |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,078,078 (GRCm39) |
G1171D |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,392,356 (GRCm39) |
H474R |
probably damaging |
Het |
Mark1 |
G |
T |
1: 184,630,871 (GRCm39) |
D746E |
possibly damaging |
Het |
Mlxipl |
C |
T |
5: 135,164,304 (GRCm39) |
Q167* |
probably null |
Het |
Myo3a |
A |
T |
2: 22,271,966 (GRCm39) |
N162Y |
probably damaging |
Het |
Myo5a |
T |
G |
9: 75,124,812 (GRCm39) |
V1787G |
probably damaging |
Het |
Myorg |
C |
T |
4: 41,498,767 (GRCm39) |
V288I |
probably benign |
Het |
Nrxn3 |
A |
T |
12: 90,166,005 (GRCm39) |
E227V |
probably damaging |
Het |
Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
Rufy2 |
A |
G |
10: 62,818,459 (GRCm39) |
D5G |
probably damaging |
Het |
Rufy4 |
A |
T |
1: 74,171,943 (GRCm39) |
D222V |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slamf1 |
T |
C |
1: 171,602,694 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
Txnl1 |
T |
C |
18: 63,812,561 (GRCm39) |
T78A |
possibly damaging |
Het |
Ulk4 |
T |
G |
9: 120,903,062 (GRCm39) |
R1138S |
probably benign |
Het |
Vamp8 |
A |
C |
6: 72,362,536 (GRCm39) |
V88G |
possibly damaging |
Het |
Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
Zfp850 |
A |
C |
7: 27,688,825 (GRCm39) |
F461C |
probably damaging |
Het |
|
Other mutations in Septin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0675:Septin1
|
UTSW |
7 |
126,816,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R1375:Septin1
|
UTSW |
7 |
126,817,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R1627:Septin1
|
UTSW |
7 |
126,817,230 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1886:Septin1
|
UTSW |
7 |
126,813,937 (GRCm39) |
unclassified |
probably benign |
|
R2409:Septin1
|
UTSW |
7 |
126,815,143 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3872:Septin1
|
UTSW |
7 |
126,814,447 (GRCm39) |
unclassified |
probably benign |
|
R4320:Septin1
|
UTSW |
7 |
126,816,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4323:Septin1
|
UTSW |
7 |
126,816,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R4864:Septin1
|
UTSW |
7 |
126,816,064 (GRCm39) |
unclassified |
probably benign |
|
R5605:Septin1
|
UTSW |
7 |
126,814,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R6838:Septin1
|
UTSW |
7 |
126,815,894 (GRCm39) |
missense |
probably benign |
0.01 |
R6870:Septin1
|
UTSW |
7 |
126,816,876 (GRCm39) |
missense |
probably benign |
0.25 |
R7030:Septin1
|
UTSW |
7 |
126,816,157 (GRCm39) |
missense |
probably benign |
0.12 |
R7494:Septin1
|
UTSW |
7 |
126,814,122 (GRCm39) |
missense |
probably damaging |
0.98 |
R7797:Septin1
|
UTSW |
7 |
126,813,937 (GRCm39) |
missense |
unknown |
|
R8002:Septin1
|
UTSW |
7 |
126,815,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R9190:Septin1
|
UTSW |
7 |
126,816,092 (GRCm39) |
missense |
probably benign |
0.11 |
X0021:Septin1
|
UTSW |
7 |
126,814,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Septin1
|
UTSW |
7 |
126,816,074 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1177:Septin1
|
UTSW |
7 |
126,815,135 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTACTGAGCTTTCTCCAGCC -3'
(R):5'- AATCTAGCCCAAAGTATCCAGTG -3'
Sequencing Primer
(F):5'- GAGCTTTCTCCAGCCTCCCC -3'
(R):5'- AGCCATGGTGTCACATTAGC -3'
|
Posted On |
2015-06-24 |