Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Sept4'

418182

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sept4

Ensembl Gene

ENSMUSG00000020486

Gene Name

septin 4

Synonyms

cell division control-related protein 2b, ARTS, Pnutl2, septin H5, Bh5

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.683) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

87568903-87590539 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 87585245 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018544] [ENSMUST00000063156] [ENSMUST00000107960] [ENSMUST00000107961] [ENSMUST00000107962] [ENSMUST00000122067] [ENSMUST00000122945] [ENSMUST00000133202]

Predicted Effect

probably benign
Transcript: ENSMUST00000018544

SMART Domains

Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	94	108	N/A	INTRINSIC
Pfam:Septin	141	421	1.8e-130	PFAM
Pfam:MMR_HSR1	146	290	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063156

SMART Domains

Protein: ENSMUSP00000060127
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
Pfam:DUF258	26	142	7.5e-7	PFAM
Pfam:Septin	42	322	7.5e-131	PFAM
Pfam:MMR_HSR1	47	211	5.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107960

SMART Domains

Protein: ENSMUSP00000103594
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	94	108	N/A	INTRINSIC
Pfam:Septin	141	421	1.1e-130	PFAM
Pfam:MMR_HSR1	146	293	7.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107961

SMART Domains

Protein: ENSMUSP00000103595
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
Pfam:DUF258	19	135	1e-7	PFAM
Pfam:Septin	35	232	1.9e-89	PFAM
Pfam:MMR_HSR1	40	204	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107962

SMART Domains

Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	75	89	N/A	INTRINSIC
Pfam:Septin	122	402	1.3e-130	PFAM
Pfam:MMR_HSR1	127	273	8.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122067

SMART Domains

Protein: ENSMUSP00000112960
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
Pfam:DUF258	8	124	5.3e-7	PFAM
Pfam:Septin	23	303	3.9e-131	PFAM
Pfam:MMR_HSR1	28	172	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122945

SMART Domains

Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	87	101	N/A	INTRINSIC
Pfam:DUF258	116	212	2.4e-7	PFAM
Pfam:Septin	134	213	9.1e-31	PFAM
Pfam:MMR_HSR1	139	213	5.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132723

Predicted Effect

probably benign
Transcript: ENSMUST00000133202

SMART Domains

Protein: ENSMUSP00000115790
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	84	98	N/A	INTRINSIC
Pfam:DUF258	114	232	1.4e-7	PFAM
Pfam:Septin	131	280	1.2e-72	PFAM
Pfam:MMR_HSR1	136	279	2.2e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136229

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 is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null males are sterile and have immotile and structurally defective sperm that is bent and lacks the annulus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Sept4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Sept4	APN	11	87589773	missense	probably damaging	1.00
IGL00963:Sept4	APN	11	87583373	missense	possibly damaging	0.89
IGL03268:Sept4	APN	11	87589703	missense	probably damaging	0.99
R0077:Sept4	UTSW	11	87581196	missense	probably benign
R1729:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1730:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1739:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1762:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1783:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1784:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1785:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R1957:Sept4	UTSW	11	87590367	missense	probably benign	0.02
R2131:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R2133:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R2140:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R2141:Sept4	UTSW	11	87583436	missense	probably benign	0.26
R2252:Sept4	UTSW	11	87589811	missense	possibly damaging	0.75
R3696:Sept4	UTSW	11	87585234	missense	possibly damaging	0.48
R4018:Sept4	UTSW	11	87585121	missense	probably damaging	1.00
R4193:Sept4	UTSW	11	87583316	critical splice acceptor site	probably null
R4196:Sept4	UTSW	11	87588772	missense	probably damaging	0.96
R5012:Sept4	UTSW	11	87584404	missense	possibly damaging	0.78
R5149:Sept4	UTSW	11	87589245	missense	probably damaging	1.00
R5891:Sept4	UTSW	11	87588924	unclassified	probably benign
R6090:Sept4	UTSW	11	87589517	missense	possibly damaging	0.48
R6145:Sept4	UTSW	11	87585246	splice site	probably null
R6257:Sept4	UTSW	11	87590349	missense	probably benign	0.07
R6704:Sept4	UTSW	11	87589030	missense	probably damaging	1.00
R7064:Sept4	UTSW	11	87590367	missense	probably benign	0.02
R7090:Sept4	UTSW	11	87584438	missense	probably damaging	1.00
R7784:Sept4	UTSW	11	87579008	missense	probably benign
R7790:Sept4	UTSW	11	87589239	missense	probably damaging	1.00
R8320:Sept4	UTSW	11	87589734	missense	possibly damaging	0.68

Posted On

2016-08-02