Incidental Mutation 'R3876:Septin3'
| ID |
276870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin3
|
| Ensembl Gene |
ENSMUSG00000022456 |
| Gene Name |
septin 3 |
| Synonyms |
Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik |
| MMRRC Submission |
041606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R3876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82153003-82178775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 82170002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 32
(D32V)
|
| 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 damaging
Transcript: ENSMUST00000023095
AA Change: D176V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: D176V
| 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: D176V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: D176V
| 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 damaging
Transcript: ENSMUST00000230365
AA Change: D176V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230418
AA Change: D71V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230507
AA Change: D32V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230799
|
| Meta Mutation Damage Score |
0.9728 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,857 (GRCm39) |
R215* |
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,074,416 (GRCm39) |
L568F |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,043,616 (GRCm39) |
Y316C |
probably damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,208,214 (GRCm39) |
|
probably null |
Het |
| Cfap69 |
G |
T |
5: 5,634,645 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,951,182 (GRCm39) |
E27G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,430 (GRCm39) |
V64A |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,625,262 (GRCm39) |
Y60H |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,281,216 (GRCm39) |
Q611L |
probably damaging |
Het |
| Entpd1 |
T |
C |
19: 40,725,264 (GRCm39) |
L450P |
probably damaging |
Het |
| Eogt |
G |
A |
6: 97,097,151 (GRCm39) |
S317L |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,657,376 (GRCm39) |
S584T |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,575,157 (GRCm39) |
V151I |
probably damaging |
Het |
| Fbxo43 |
A |
G |
15: 36,152,258 (GRCm39) |
V517A |
probably damaging |
Het |
| Flii |
T |
C |
11: 60,610,698 (GRCm39) |
T533A |
possibly damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,284,093 (GRCm39) |
H971Q |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,867,954 (GRCm39) |
N333K |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,815,513 (GRCm39) |
S1525P |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,600,479 (GRCm39) |
I816T |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Krt34 |
T |
C |
11: 99,931,791 (GRCm39) |
T143A |
probably benign |
Het |
| Lipn |
G |
T |
19: 34,046,828 (GRCm39) |
M43I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
| Mios |
G |
A |
6: 8,233,189 (GRCm39) |
R779Q |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,269,480 (GRCm39) |
|
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,897,640 (GRCm39) |
S418P |
probably benign |
Het |
| Oprk1 |
T |
A |
1: 5,672,884 (GRCm39) |
C340* |
probably null |
Het |
| Or10d1c |
T |
A |
9: 38,894,166 (GRCm39) |
Y58F |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,739,952 (GRCm39) |
T262A |
possibly damaging |
Het |
| Or4k39 |
T |
C |
2: 111,238,967 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or6c210 |
C |
T |
10: 129,496,143 (GRCm39) |
P156L |
probably benign |
Het |
| Or6z7 |
G |
A |
7: 6,484,131 (GRCm39) |
A8V |
probably benign |
Het |
| Pald1 |
T |
A |
10: 61,183,266 (GRCm39) |
N323Y |
probably damaging |
Het |
| Pcdhac1 |
C |
A |
18: 37,224,945 (GRCm39) |
A586E |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 126,614,897 (GRCm39) |
A185T |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,821,465 (GRCm39) |
H430Y |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,556,382 (GRCm39) |
|
probably null |
Het |
| Prl8a6 |
A |
T |
13: 27,617,015 (GRCm39) |
L225* |
probably null |
Het |
| Psme4 |
T |
C |
11: 30,806,068 (GRCm39) |
S89P |
probably damaging |
Het |
| Pygl |
G |
A |
12: 70,248,113 (GRCm39) |
T250I |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,016,528 (GRCm39) |
K72* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,603,045 (GRCm39) |
I4514F |
probably damaging |
Het |
| Sfrp2 |
C |
T |
3: 83,674,335 (GRCm39) |
P163S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,745 (GRCm39) |
T298A |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,683,369 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,002,345 (GRCm39) |
M282K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,561,847 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
G |
A |
14: 50,600,611 (GRCm39) |
V866I |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,056,020 (GRCm39) |
|
probably null |
Het |
| Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGTTGGGGACATGCAGC -3'
(R):5'- CAGACAGGAGATGGTTTGGACC -3'
Sequencing Primer
(F):5'- GCTGAAGCAGTAGACATGTGC -3'
(R):5'- TGGTTTGGACCCAGAGGAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation