Incidental Mutation 'IGL02547:Septin8'
| ID |
297879 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Septin8
|
| Ensembl Gene |
ENSMUSG00000018398 |
| Gene Name |
septin 8 |
| Synonyms |
Sept8, Sepl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL02547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
53410224-53440432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 53428092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 302
(R302L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108987]
[ENSMUST00000117061]
[ENSMUST00000120878]
[ENSMUST00000121334]
[ENSMUST00000142800]
[ENSMUST00000147912]
|
| AlphaFold |
Q8CHH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108987
AA Change: R302L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: R302L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
41 |
314 |
1.9e-101 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
191 |
5.7e-7 |
PFAM |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117061
AA Change: R302L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: R302L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
41 |
314 |
6.5e-101 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
191 |
1.3e-6 |
PFAM |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120878
AA Change: R300L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: R300L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
41 |
312 |
6.4e-98 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
190 |
6.3e-7 |
PFAM |
|
low complexity region
|
349 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121334
AA Change: R302L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: R302L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
41 |
314 |
1.9e-100 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
187 |
2.6e-7 |
PFAM |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142800
|
| SMART Domains |
Protein: ENSMUSP00000124057
Gene: ENSMUSG00000018398
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
1 |
51 |
5.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145927
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147912
AA Change: R302L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: R302L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
41 |
314 |
2.1e-101 |
PFAM |
|
Pfam:MMR_HSR1
|
46 |
190 |
6e-7 |
PFAM |
|
low complexity region
|
351 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
394 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit myelin outfoldings and reduced nerve conduction velocity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
A |
12: 53,187,479 (GRCm39) |
L1631H |
probably damaging |
Het |
| Atf7ip |
T |
A |
6: 136,580,274 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,725,849 (GRCm39) |
Y48N |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,886,640 (GRCm39) |
M656R |
probably benign |
Het |
| Camkk1 |
A |
G |
11: 72,929,259 (GRCm39) |
R455G |
probably benign |
Het |
| Casr |
A |
T |
16: 36,336,036 (GRCm39) |
M91K |
probably benign |
Het |
| Ccdc28a |
A |
T |
10: 18,089,894 (GRCm39) |
V124D |
possibly damaging |
Het |
| Ccnh |
T |
C |
13: 85,350,623 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
G |
T |
9: 21,051,262 (GRCm39) |
|
probably benign |
Het |
| Cdon |
A |
G |
9: 35,389,950 (GRCm39) |
D868G |
probably damaging |
Het |
| Cstdc3 |
A |
T |
16: 36,132,888 (GRCm39) |
|
probably benign |
Het |
| Cyp4f15 |
A |
G |
17: 32,919,229 (GRCm39) |
R351G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,091 (GRCm39) |
I545T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,787,478 (GRCm39) |
M798V |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,556,261 (GRCm39) |
Q200L |
probably damaging |
Het |
| Ica1 |
T |
C |
6: 8,670,691 (GRCm39) |
|
probably null |
Het |
| Idh3a |
T |
A |
9: 54,499,679 (GRCm39) |
V31D |
probably benign |
Het |
| Il3ra |
A |
T |
14: 14,351,970 (GRCm38) |
T247S |
probably benign |
Het |
| Itgb7 |
A |
G |
15: 102,126,945 (GRCm39) |
C497R |
probably damaging |
Het |
| Itm2c |
T |
C |
1: 85,834,182 (GRCm39) |
Y166H |
probably damaging |
Het |
| Mphosph8 |
A |
G |
14: 56,909,941 (GRCm39) |
D98G |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,561,650 (GRCm39) |
R29G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,078,742 (GRCm39) |
T142S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,381,082 (GRCm39) |
T570I |
probably benign |
Het |
| Nr5a2 |
T |
A |
1: 136,868,665 (GRCm39) |
M196L |
probably benign |
Het |
| Nrp1 |
C |
A |
8: 129,219,512 (GRCm39) |
F643L |
probably benign |
Het |
| Or52ad1 |
A |
G |
7: 102,995,451 (GRCm39) |
F228S |
probably damaging |
Het |
| Or52z15 |
T |
C |
7: 103,331,973 (GRCm39) |
I16T |
probably benign |
Het |
| Or5a3 |
A |
T |
19: 12,399,675 (GRCm39) |
M1L |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,372 (GRCm39) |
F168S |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,925,680 (GRCm39) |
W446* |
probably null |
Het |
| Pced1a |
T |
C |
2: 130,261,627 (GRCm39) |
D342G |
possibly damaging |
Het |
| Pira13 |
T |
C |
7: 3,824,660 (GRCm39) |
D573G |
probably damaging |
Het |
| Prkcd |
C |
A |
14: 30,321,426 (GRCm39) |
W555L |
probably damaging |
Het |
| Prpf31 |
T |
C |
7: 3,633,898 (GRCm39) |
S78P |
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,553 (GRCm39) |
T285A |
probably benign |
Het |
| Retreg3 |
A |
T |
11: 100,997,204 (GRCm39) |
L92* |
probably null |
Het |
| Rmdn1 |
A |
G |
4: 19,605,501 (GRCm39) |
K282E |
possibly damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,802 (GRCm39) |
I192V |
probably damaging |
Het |
| Sgce |
T |
C |
6: 4,711,301 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,936,116 (GRCm39) |
L323Q |
probably damaging |
Het |
| Spats1 |
A |
T |
17: 45,785,743 (GRCm39) |
|
probably benign |
Het |
| Tcerg1l |
C |
T |
7: 137,850,100 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,559,730 (GRCm39) |
V21230A |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,836,895 (GRCm39) |
D41A |
possibly damaging |
Het |
| Vps13c |
T |
G |
9: 67,815,301 (GRCm39) |
I979S |
possibly damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,857,531 (GRCm39) |
H683Q |
probably benign |
Het |
| Zfp1007 |
C |
T |
5: 109,826,628 (GRCm39) |
|
probably null |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,846 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Septin8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Septin8
|
APN |
11 |
53,422,823 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01649:Septin8
|
APN |
11 |
53,425,855 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02131:Septin8
|
APN |
11 |
53,428,684 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0856:Septin8
|
UTSW |
11 |
53,428,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0908:Septin8
|
UTSW |
11 |
53,428,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1799:Septin8
|
UTSW |
11 |
53,425,310 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3774:Septin8
|
UTSW |
11 |
53,428,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Septin8
|
UTSW |
11 |
53,427,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Septin8
|
UTSW |
11 |
53,425,416 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5034:Septin8
|
UTSW |
11 |
53,425,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5313:Septin8
|
UTSW |
11 |
53,426,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5652:Septin8
|
UTSW |
11 |
53,428,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Septin8
|
UTSW |
11 |
53,439,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6285:Septin8
|
UTSW |
11 |
53,425,594 (GRCm39) |
splice site |
probably null |
|
|
R6289:Septin8
|
UTSW |
11 |
53,425,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6571:Septin8
|
UTSW |
11 |
53,427,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Septin8
|
UTSW |
11 |
53,427,519 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7249:Septin8
|
UTSW |
11 |
53,425,949 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7646:Septin8
|
UTSW |
11 |
53,428,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7691:Septin8
|
UTSW |
11 |
53,428,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8170:Septin8
|
UTSW |
11 |
53,428,684 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8776:Septin8
|
UTSW |
11 |
53,428,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8776-TAIL:Septin8
|
UTSW |
11 |
53,428,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8829:Septin8
|
UTSW |
11 |
53,422,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Septin8
|
UTSW |
11 |
53,426,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9048:Septin8
|
UTSW |
11 |
53,427,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9781:Septin8
|
UTSW |
11 |
53,422,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Septin8
|
UTSW |
11 |
53,427,551 (GRCm39) |
nonsense |
probably null |
|
|
X0058:Septin8
|
UTSW |
11 |
53,425,912 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2015-04-16 |
Incidental Mutation