Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00941:Sept4'

28553

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: 0.692) question?

Stock #

IGL00941

Quality Score

Status

Chromosome

Chromosomal Location

87568903-87590539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 87589773 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 392 (C392F)

Ref Sequence

ENSEMBL: ENSMUSP00000103596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018544] [ENSMUST00000063156] [ENSMUST00000092802] [ENSMUST00000103179] [ENSMUST00000107960] [ENSMUST00000107961] [ENSMUST00000107962] [ENSMUST00000119628] [ENSMUST00000122067] [ENSMUST00000122945] [ENSMUST00000123105] [ENSMUST00000133202] [ENSMUST00000146871]

Predicted Effect

probably damaging
Transcript: ENSMUST00000018544
AA Change: C411F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486
AA Change: C411F

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 damaging
Transcript: ENSMUST00000063156
AA Change: C312F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060127
Gene: ENSMUSG00000020486
AA Change: C312F

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: ENSMUST00000092802

SMART Domains

Protein: ENSMUSP00000090478
Gene: ENSMUSG00000018401

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	507	4.2e-137	PFAM
low complexity region	933	945	N/A	INTRINSIC
coiled coil region	961	991	N/A	INTRINSIC
FYVE	1044	1113	2.08e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103179

SMART Domains

Protein: ENSMUSP00000099468
Gene: ENSMUSG00000018401

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	126	521	8.1e-149	PFAM
low complexity region	990	1002	N/A	INTRINSIC
coiled coil region	1018	1048	N/A	INTRINSIC
FYVE	1101	1170	2.08e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107960
AA Change: C411F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103594
Gene: ENSMUSG00000020486
AA Change: C411F

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 damaging
Transcript: ENSMUST00000107962
AA Change: C392F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486
AA Change: C392F

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: ENSMUST00000119628

SMART Domains

Protein: ENSMUSP00000112902
Gene: ENSMUSG00000018401

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	127	519	1.5e-135	PFAM
low complexity region	990	1002	N/A	INTRINSIC
coiled coil region	1018	1048	N/A	INTRINSIC
FYVE	1101	1170	2.08e-31	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000122067
AA Change: C293F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112960
Gene: ENSMUSG00000020486
AA Change: C293F

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

probably benign
Transcript: ENSMUST00000123105

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: ENSMUST00000135175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140398

Predicted Effect

probably benign
Transcript: ENSMUST00000146871

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,317,130	I521S	probably damaging	Het
Ace	A	T	11: 105,979,550	K265I	probably benign	Het
Acss3	A	G	10: 107,053,326		probably null	Het
Aldh3a2	A	G	11: 61,262,256	Y215H	probably damaging	Het
Clk2	A	G	3: 89,175,422	M393V	probably damaging	Het
Cyc1	A	G	15: 76,345,165	I242V	probably benign	Het
Evpl	G	A	11: 116,227,901	L657F	probably benign	Het
Fbxw10	G	A	11: 62,873,501	V675M	probably damaging	Het
Fgf21	A	G	7: 45,615,173	V45A	probably damaging	Het
Gm5134	T	C	10: 76,000,421	I412T	possibly damaging	Het
Gnat3	T	C	5: 18,003,751		probably benign	Het
Hk3	C	T	13: 55,014,426		probably null	Het
Ifna12	A	T	4: 88,603,314		probably benign	Het
Ipp	A	G	4: 116,532,659	M471V	possibly damaging	Het
Kcnj1	G	A	9: 32,396,498	V73I	probably benign	Het
Kin	G	A	2: 10,080,704	R25H	probably damaging	Het
Kin	T	C	2: 10,080,706	W26R	probably damaging	Het
Mical2	T	C	7: 112,321,445		probably benign	Het
Mllt1	A	T	17: 56,895,086	S428R	probably damaging	Het
Ppm1k	T	A	6: 57,524,755	H141L	probably benign	Het
Slc26a11	T	C	11: 119,379,901	F550L	probably benign	Het
Ssb	T	A	2: 69,870,835		probably null	Het
Stk36	T	A	1: 74,623,934	M588K	possibly damaging	Het
Ubqln4	G	A	3: 88,564,501	A415T	probably benign	Het
Zfp839	C	A	12: 110,860,948	S424R	probably damaging	Het
Zkscan6	G	T	11: 65,814,747	G95W	probably damaging	Het

Other mutations in Sept4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Sept4	APN	11	87583373	missense	possibly damaging	0.89
IGL03087:Sept4	APN	11	87585245	splice site	probably benign
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

2013-04-17