Incidental Mutation 'R4320:Septin1'
| ID |
323775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin1
|
| Ensembl Gene |
ENSMUSG00000000486 |
| Gene Name |
septin 1 |
| Synonyms |
Sept1, Diff6, PNUTL3 |
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.251)
|
| Stock # |
R4320 (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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Grk5 |
C |
T |
19: 61,080,383 (GRCm39) |
R576* |
probably null |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
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 |
|
|
R4321: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'- GTACTGAGCTTTCTCCAGCC -3'
(R):5'- AATCTAGCCCAAAGTATCCAGTG -3'
Sequencing Primer
(F):5'- GAGCTTTCTCCAGCCTCCCC -3'
(R):5'- AGCCATGGTGTCACATTAGC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation