Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03118:Sept3'

409887

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sept3

Ensembl Gene

ENSMUSG00000022456

Gene Name

septin 3

Synonyms

B530002E20Rik, Sep3, 3110018K01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

82274893-82294574 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 82284514 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155353 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023095] [ENSMUST00000116423] [ENSMUST00000230365] [ENSMUST00000230418] [ENSMUST00000230507]

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: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Sept3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Sept3	APN	15	82279613	unclassified	probably benign
IGL01979:Sept3	APN	15	82284392	missense	probably damaging	0.99
R0478:Sept3	UTSW	15	82290806	missense	probably damaging	1.00
R0556:Sept3	UTSW	15	82283765	unclassified	probably benign
R3804:Sept3	UTSW	15	82286429	splice site	probably benign
R3876:Sept3	UTSW	15	82285801	missense	probably damaging	1.00
R4589:Sept3	UTSW	15	82285891	missense	probably damaging	0.99
R4744:Sept3	UTSW	15	82290457	critical splice donor site	probably null
R5954:Sept3	UTSW	15	82290427	missense	probably damaging	1.00
R6434:Sept3	UTSW	15	82279603	missense	possibly damaging	0.92
R7257:Sept3	UTSW	15	82289213	missense	probably damaging	0.99
R7475:Sept3	UTSW	15	82286456	missense	probably benign	0.00
R7641:Sept3	UTSW	15	82290782	missense	probably damaging	1.00
R7754:Sept3	UTSW	15	82290773	missense	probably benign	0.03
R7895:Sept3	UTSW	15	82285819	missense	probably benign	0.00
R7991:Sept3	UTSW	15	82286453	missense	probably benign	0.39
RF020:Sept3	UTSW	15	82284461	missense	probably damaging	1.00
X0065:Sept3	UTSW	15	82279504	missense	probably benign	0.03

Posted On

2016-08-02