Incidental Mutation 'IGL03118:Septin3'
| ID |
409887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Septin3
|
| Ensembl Gene |
ENSMUSG00000022456 |
| Gene Name |
septin 3 |
| Synonyms |
Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL03118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82153003-82178775 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 82168715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023095]
[ENSMUST00000116423]
[ENSMUST00000230365]
[ENSMUST00000230418]
[ENSMUST00000230507]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023095
|
| SMART Domains |
Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF258
|
27 |
143 |
9.1e-9 |
PFAM |
|
Pfam:Septin
|
45 |
322 |
8.9e-117 |
PFAM |
|
Pfam:AIG1
|
49 |
145 |
2.6e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
50 |
220 |
2.3e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000116423
|
| SMART Domains |
Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Septin
|
45 |
322 |
1.2e-116 |
PFAM |
|
Pfam:MMR_HSR1
|
50 |
195 |
3.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229067
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230365
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230418
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230507
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230799
|
| 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 belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
G |
A |
17: 24,619,424 (GRCm39) |
G921S |
probably benign |
Het |
| Abca8b |
T |
C |
11: 109,838,007 (GRCm39) |
T1082A |
possibly damaging |
Het |
| B9d2 |
T |
C |
7: 25,380,901 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,669,253 (GRCm39) |
E442G |
possibly damaging |
Het |
| Bpifb5 |
C |
T |
2: 154,078,673 (GRCm39) |
|
probably benign |
Het |
| Ccl1 |
A |
G |
11: 82,068,896 (GRCm39) |
I47T |
probably damaging |
Het |
| Cln3 |
T |
C |
7: 126,174,569 (GRCm39) |
I285V |
probably null |
Het |
| Cyp4a12b |
G |
T |
4: 115,290,173 (GRCm39) |
R242I |
possibly damaging |
Het |
| Dcc |
T |
C |
18: 71,553,344 (GRCm39) |
T771A |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,081,878 (GRCm39) |
D1052G |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,630 (GRCm39) |
N301S |
probably benign |
Het |
| Gm28043 |
A |
C |
17: 29,853,705 (GRCm39) |
E403A |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,793,804 (GRCm39) |
|
probably benign |
Het |
| Ighv5-12 |
T |
A |
12: 113,666,198 (GRCm39) |
M1L |
probably benign |
Het |
| Il17rd |
A |
G |
14: 26,815,352 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
A |
3: 89,574,468 (GRCm39) |
L660Q |
probably damaging |
Het |
| Lcor |
C |
T |
19: 41,546,808 (GRCm39) |
P131S |
probably damaging |
Het |
| Leng1 |
T |
C |
7: 3,668,409 (GRCm39) |
N13S |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,996,709 (GRCm39) |
Y208C |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,848 (GRCm39) |
V453A |
probably damaging |
Het |
| Odam |
T |
C |
5: 88,033,613 (GRCm39) |
S15P |
unknown |
Het |
| Or11l3 |
A |
T |
11: 58,516,269 (GRCm39) |
V201D |
probably damaging |
Het |
| Or8d1 |
A |
T |
9: 38,766,526 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,618 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,372,341 (GRCm39) |
Y244* |
probably null |
Het |
| Pik3ca |
A |
T |
3: 32,514,084 (GRCm39) |
I857F |
probably damaging |
Het |
| Pold1 |
T |
A |
7: 44,188,824 (GRCm39) |
I447F |
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,731,942 (GRCm39) |
W131R |
probably null |
Het |
| Ppp2r2c |
A |
G |
5: 37,083,660 (GRCm39) |
Y67C |
probably damaging |
Het |
| Psmb10 |
A |
T |
8: 106,663,532 (GRCm39) |
H155Q |
probably damaging |
Het |
| Ptbp3 |
G |
A |
4: 59,501,470 (GRCm39) |
A149V |
probably benign |
Het |
| Pygb |
T |
A |
2: 150,662,731 (GRCm39) |
V566E |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,788,999 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,715,211 (GRCm39) |
R4638W |
unknown |
Het |
| Semp2l2a |
C |
T |
8: 13,888,096 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,097,313 (GRCm39) |
D198V |
probably benign |
Het |
| Slc27a6 |
C |
A |
18: 58,689,815 (GRCm39) |
H94N |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,915,559 (GRCm39) |
V456M |
probably damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,977,301 (GRCm39) |
E238G |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,584,551 (GRCm39) |
V20440I |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,912,000 (GRCm39) |
|
probably benign |
Het |
| Zfp865 |
T |
C |
7: 5,037,644 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Septin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01843:Septin3
|
APN |
15 |
82,163,814 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01979:Septin3
|
APN |
15 |
82,168,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0478:Septin3
|
UTSW |
15 |
82,175,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Septin3
|
UTSW |
15 |
82,167,966 (GRCm39) |
unclassified |
probably benign |
|
|
R3804:Septin3
|
UTSW |
15 |
82,170,630 (GRCm39) |
splice site |
probably benign |
|
|
R3876:Septin3
|
UTSW |
15 |
82,170,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4589:Septin3
|
UTSW |
15 |
82,170,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4744:Septin3
|
UTSW |
15 |
82,174,658 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5954:Septin3
|
UTSW |
15 |
82,174,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6434:Septin3
|
UTSW |
15 |
82,163,804 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7257:Septin3
|
UTSW |
15 |
82,173,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7475:Septin3
|
UTSW |
15 |
82,170,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7641:Septin3
|
UTSW |
15 |
82,174,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Septin3
|
UTSW |
15 |
82,174,974 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7895:Septin3
|
UTSW |
15 |
82,170,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7991:Septin3
|
UTSW |
15 |
82,170,654 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9328:Septin3
|
UTSW |
15 |
82,173,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9347:Septin3
|
UTSW |
15 |
82,167,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9368:Septin3
|
UTSW |
15 |
82,163,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9456:Septin3
|
UTSW |
15 |
82,167,352 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9646:Septin3
|
UTSW |
15 |
82,170,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF020:Septin3
|
UTSW |
15 |
82,168,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Septin3
|
UTSW |
15 |
82,163,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2016-08-02 |
Incidental Mutation