Incidental Mutation 'R0478:Septin3'
| ID |
43216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Septin3
|
| Ensembl Gene |
ENSMUSG00000022456 |
| Gene Name |
septin 3 |
| Synonyms |
Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik |
| MMRRC Submission |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82153003-82178775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82175007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 172
(L172P)
|
| 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: L316P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: L316P
| 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: L316P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: L316P
| 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: L316P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230418
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230507
AA Change: L172P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230799
|
| Meta Mutation Damage Score |
0.9733 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
| Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCTCTATCCCAGTGCATCTCAG -3'
(R):5'- GGGCAATGAAAATACCTCACCCCTG -3'
Sequencing Primer
(F):5'- CATCTCAGAGGGGTTGTAAAATTGAC -3'
(R):5'- actctccatcacacacacatac -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation