Incidental Mutation 'R9048:Septin8'
| ID |
688194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin8
|
| Ensembl Gene |
ENSMUSG00000018398 |
| Gene Name |
septin 8 |
| Synonyms |
Sept8, Sepl |
| MMRRC Submission |
068874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R9048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53410224-53440432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53427530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 250
(N250D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104615
(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: N250D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: N250D
| 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 |
possibly damaging
Transcript: ENSMUST00000117061
AA Change: N250D
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: N250D
| 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: N248D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: N248D
| 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: N250D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: N250D
| 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 |
probably damaging
Transcript: ENSMUST00000147912
AA Change: N250D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: N250D
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl |
A |
T |
16: 45,974,558 (GRCm39) |
V273D |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,225,670 (GRCm39) |
V947M |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,065,926 (GRCm39) |
S67P |
|
Het |
| Bmp6 |
C |
T |
13: 38,682,778 (GRCm39) |
T453I |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,853,872 (GRCm39) |
K1092R |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,989,695 (GRCm39) |
D407G |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,207,259 (GRCm39) |
H1887N |
unknown |
Het |
| Cldn10 |
G |
A |
14: 119,025,656 (GRCm39) |
V30M |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,281,944 (GRCm39) |
|
probably benign |
Het |
| Cyria |
G |
A |
12: 12,412,286 (GRCm39) |
A183T |
probably damaging |
Het |
| Dmac2l |
C |
T |
12: 69,787,752 (GRCm39) |
R63C |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,455 (GRCm39) |
H200R |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,048 (GRCm39) |
Y269H |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,218 (GRCm39) |
A82V |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,935 (GRCm39) |
H672R |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,413 (GRCm39) |
Y579* |
probably null |
Het |
| Gm9507 |
G |
A |
10: 77,647,245 (GRCm39) |
P145S |
unknown |
Het |
| Igf2 |
A |
T |
7: 142,207,759 (GRCm39) |
F113I |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,441 (GRCm39) |
S90G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,854,854 (GRCm39) |
I2002T |
possibly damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,146,931 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
G |
T |
8: 93,635,878 (GRCm39) |
A427S |
probably benign |
Het |
| Mapk14 |
A |
G |
17: 28,947,358 (GRCm39) |
T175A |
probably benign |
Het |
| Mei1 |
C |
A |
15: 81,969,036 (GRCm39) |
S329* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,854,768 (GRCm39) |
I20T |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,678,331 (GRCm39) |
N665S |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,750,612 (GRCm39) |
Q177L |
probably benign |
Het |
| Nkx6-2 |
A |
G |
7: 139,161,876 (GRCm39) |
F167S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,929 (GRCm39) |
V189A |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,584 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,830 (GRCm39) |
V249I |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or55b3 |
A |
T |
7: 102,126,684 (GRCm39) |
I131N |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,847,598 (GRCm39) |
T224I |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,932,249 (GRCm39) |
M112L |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,424,663 (GRCm39) |
R11C |
possibly damaging |
Het |
| Podn |
G |
C |
4: 107,878,596 (GRCm39) |
R424G |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,732,797 (GRCm39) |
D222G |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,774,468 (GRCm39) |
M401L |
probably benign |
Het |
| Sec61g |
A |
G |
11: 16,458,129 (GRCm39) |
V22A |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,058,003 (GRCm39) |
L7P |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,032,620 (GRCm39) |
D1188G |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,465 (GRCm39) |
T1271M |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,508,415 (GRCm39) |
L241H |
probably damaging |
Het |
| Stx8 |
A |
G |
11: 67,902,211 (GRCm39) |
T132A |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,687,218 (GRCm39) |
I403V |
|
Het |
| Stxbp3 |
A |
T |
3: 108,723,704 (GRCm39) |
M177K |
probably benign |
Het |
| Supt16 |
T |
A |
14: 52,418,513 (GRCm39) |
Q248L |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,356,122 (GRCm39) |
L596F |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,580,686 (GRCm39) |
M1V |
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 |
|
IGL02547:Septin8
|
APN |
11 |
53,428,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTCTCTTGCTCCTGAGAAG -3'
(R):5'- ACAGAGTGAGGTGACCATGC -3'
Sequencing Primer
(F):5'- GACAGGCATACCCAGTTCTCTG -3'
(R):5'- TGAGGTGACCATGCAGATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation