Incidental Mutation 'IGL01979:Septin3'
| ID |
181797 |
| 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: 0.149)
|
| Stock # |
IGL01979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82153003-82178775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82168593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 132
(Y132C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023095]
[ENSMUST00000116423]
[ENSMUST00000230365]
[ENSMUST00000230418]
[ENSMUST00000230507]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023095
AA Change: Y132C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: Y132C
| 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 damaging
Transcript: ENSMUST00000116423
AA Change: Y132C
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: Y132C
| 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 |
possibly damaging
Transcript: ENSMUST00000230365
AA Change: Y132C
PolyPhen 2
Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230418
AA Change: Y27C
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably benign
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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
T |
A |
13: 94,584,971 (GRCm39) |
L394* |
probably null |
Het |
| Cdk2ap1 |
C |
T |
5: 124,486,772 (GRCm39) |
V57M |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,992 (GRCm39) |
N65I |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,801,691 (GRCm39) |
E945K |
probably benign |
Het |
| Eif2b2 |
A |
G |
12: 85,266,608 (GRCm39) |
D59G |
probably benign |
Het |
| Ero1a |
A |
T |
14: 45,525,201 (GRCm39) |
N441K |
probably damaging |
Het |
| Fam91a1 |
A |
G |
15: 58,304,433 (GRCm39) |
D383G |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,789,649 (GRCm39) |
S26I |
probably damaging |
Het |
| Il20 |
A |
T |
1: 130,838,839 (GRCm39) |
I42K |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,790 (GRCm39) |
F1947L |
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,983,261 (GRCm39) |
|
probably null |
Het |
| Numb |
G |
T |
12: 83,889,051 (GRCm39) |
H23N |
probably damaging |
Het |
| Or10q3 |
G |
A |
19: 11,848,587 (GRCm39) |
|
probably benign |
Het |
| Or5p79 |
A |
G |
7: 108,221,648 (GRCm39) |
I210V |
probably benign |
Het |
| Ppp1r1b |
C |
T |
11: 98,247,666 (GRCm39) |
T111I |
probably damaging |
Het |
| Rad50 |
G |
A |
11: 53,577,005 (GRCm39) |
Q528* |
probably null |
Het |
| Scara3 |
A |
T |
14: 66,168,412 (GRCm39) |
S402T |
probably benign |
Het |
| Sim2 |
C |
A |
16: 93,924,341 (GRCm39) |
N495K |
possibly damaging |
Het |
| Slc9b1 |
A |
G |
3: 135,077,743 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,667,746 (GRCm39) |
D109G |
probably benign |
Het |
| Tex55 |
A |
C |
16: 38,648,255 (GRCm39) |
S285A |
possibly damaging |
Het |
| Traf1 |
T |
C |
2: 34,833,905 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn2r68 |
C |
A |
7: 84,871,325 (GRCm39) |
V653L |
probably benign |
Het |
| Wdr93 |
A |
T |
7: 79,426,400 (GRCm39) |
Q555L |
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 |
|
|
IGL03118:Septin3
|
APN |
15 |
82,168,715 (GRCm39) |
splice site |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation