Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02566:Septin4'

298819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Septin4

Ensembl Gene

ENSMUSG00000020486

Gene Name

septin 4

Synonyms

Gm11492, ARTS, septin H5, cell division control-related protein 2b, Sept4, Bh5, Pnutl2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

IGL02566

Quality Score

Status

Chromosome

Chromosomal Location

87457515-87481365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 87458468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 281 (S281A)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060360] [ENSMUST00000122945]

AlphaFold

P28661
Q5ND19

Predicted Effect

probably benign
Transcript: ENSMUST00000060360
AA Change: S281A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: S281A

Domain	Start	End	E-Value	Type
Pfam:DUF4655	13	369	1.7e-99	PFAM
Pfam:DUF4655	366	509	2.7e-68	PFAM
low complexity region	511	536	N/A	INTRINSIC

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl4d	A	G	11: 101,557,980 (GRCm39)	S169G	probably damaging	Het
Bbx	A	T	16: 50,043,603 (GRCm39)		probably benign	Het
Blm	A	T	7: 80,123,944 (GRCm39)	M959K	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyb5d1	T	C	11: 69,284,594 (GRCm39)	N186S	probably benign	Het
Elk3	A	G	10: 93,101,325 (GRCm39)	L142P	probably damaging	Het
Gk5	G	A	9: 96,011,099 (GRCm39)	D70N	possibly damaging	Het
Gpr84	T	C	15: 103,217,150 (GRCm39)	D309G	probably benign	Het
Greb1l	T	C	18: 10,503,299 (GRCm39)	V450A	probably damaging	Het
Gucy1b1	A	G	3: 81,965,636 (GRCm39)	F70S	probably damaging	Het
Jmjd4	T	A	11: 59,345,880 (GRCm39)	M320K	probably damaging	Het
Map10	A	G	8: 126,398,494 (GRCm39)	N629S	probably benign	Het
Nmd3	G	T	3: 69,647,247 (GRCm39)		probably benign	Het
Obscn	G	T	11: 58,958,973 (GRCm39)	T3359K	probably damaging	Het
Or2t1	C	A	14: 14,328,138 (GRCm38)	T9K	probably benign	Het
Pkhd1l1	A	G	15: 44,389,450 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,314,183 (GRCm39)	F1212L	probably benign	Het
Rabep1	A	G	11: 70,808,540 (GRCm39)	S459G	probably damaging	Het
Slc26a1	A	G	5: 108,821,665 (GRCm39)	S75P	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sult1d1	A	T	5: 87,712,670 (GRCm39)	L58Q	probably damaging	Het
Tnrc18	A	T	5: 142,758,068 (GRCm39)		probably benign	Het
Vps35l	C	T	7: 118,352,055 (GRCm39)	A154V	probably benign	Het
Zfp442	T	C	2: 150,251,711 (GRCm39)		probably null	Het

Other mutations in Septin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Septin4	APN	11	87,480,599 (GRCm39)	missense	probably damaging	1.00
IGL00963:Septin4	APN	11	87,474,199 (GRCm39)	missense	possibly damaging	0.89
IGL01803:Septin4	APN	11	87,459,075 (GRCm39)	missense	probably benign	0.07
IGL01993:Septin4	APN	11	87,458,555 (GRCm39)	missense	possibly damaging	0.85
IGL03087:Septin4	APN	11	87,476,071 (GRCm39)	splice site	probably benign
IGL03213:Septin4	APN	11	87,458,184 (GRCm39)	splice site	probably null
IGL03268:Septin4	APN	11	87,480,529 (GRCm39)	missense	probably damaging	0.99
IGL03388:Septin4	APN	11	87,459,042 (GRCm39)	nonsense	probably null
R0050:Septin4	UTSW	11	87,458,172 (GRCm39)	missense	probably damaging	1.00
R0077:Septin4	UTSW	11	87,472,022 (GRCm39)	missense	probably benign
R1479:Septin4	UTSW	11	87,458,244 (GRCm39)	missense	probably damaging	1.00
R1729:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1730:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1739:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1762:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1783:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1784:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1785:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R1851:Septin4	UTSW	11	87,459,741 (GRCm39)	missense	probably damaging	1.00
R1862:Septin4	UTSW	11	87,458,061 (GRCm39)	missense	possibly damaging	0.48
R1913:Septin4	UTSW	11	87,457,838 (GRCm39)	missense	probably benign
R1957:Septin4	UTSW	11	87,481,193 (GRCm39)	missense	probably benign	0.02
R2131:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R2133:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R2140:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R2141:Septin4	UTSW	11	87,474,262 (GRCm39)	missense	probably benign	0.26
R2252:Septin4	UTSW	11	87,480,637 (GRCm39)	missense	possibly damaging	0.75
R3149:Septin4	UTSW	11	87,458,070 (GRCm39)	missense	possibly damaging	0.46
R3176:Septin4	UTSW	11	87,458,070 (GRCm39)	missense	possibly damaging	0.46
R3276:Septin4	UTSW	11	87,458,070 (GRCm39)	missense	possibly damaging	0.46
R3696:Septin4	UTSW	11	87,476,060 (GRCm39)	missense	possibly damaging	0.48
R4018:Septin4	UTSW	11	87,475,947 (GRCm39)	missense	probably damaging	1.00
R4021:Septin4	UTSW	11	87,458,106 (GRCm39)	missense	probably damaging	1.00
R4117:Septin4	UTSW	11	87,459,108 (GRCm39)	missense	probably damaging	1.00
R4193:Septin4	UTSW	11	87,474,142 (GRCm39)	critical splice acceptor site	probably null
R4196:Septin4	UTSW	11	87,479,598 (GRCm39)	missense	probably damaging	0.96
R4332:Septin4	UTSW	11	87,458,730 (GRCm39)	missense	possibly damaging	0.95
R4515:Septin4	UTSW	11	87,458,883 (GRCm39)	missense	probably benign
R4663:Septin4	UTSW	11	87,458,429 (GRCm39)	missense	probably damaging	0.98
R4952:Septin4	UTSW	11	87,458,598 (GRCm39)	missense	probably benign	0.00
R5012:Septin4	UTSW	11	87,475,230 (GRCm39)	missense	possibly damaging	0.78
R5015:Septin4	UTSW	11	87,458,043 (GRCm39)	missense	possibly damaging	0.95
R5149:Septin4	UTSW	11	87,480,071 (GRCm39)	missense	probably damaging	1.00
R5176:Septin4	UTSW	11	87,458,358 (GRCm39)	missense	probably benign	0.02
R5711:Septin4	UTSW	11	87,458,723 (GRCm39)	missense	probably benign	0.07
R5891:Septin4	UTSW	11	87,479,750 (GRCm39)	unclassified	probably benign
R6090:Septin4	UTSW	11	87,480,343 (GRCm39)	missense	possibly damaging	0.48
R6145:Septin4	UTSW	11	87,476,072 (GRCm39)	splice site	probably null
R6257:Septin4	UTSW	11	87,481,175 (GRCm39)	missense	probably benign	0.07
R6305:Septin4	UTSW	11	87,458,145 (GRCm39)	missense	probably benign	0.00
R6704:Septin4	UTSW	11	87,479,856 (GRCm39)	missense	probably damaging	1.00
R7064:Septin4	UTSW	11	87,481,193 (GRCm39)	missense	probably benign	0.02
R7090:Septin4	UTSW	11	87,475,264 (GRCm39)	missense	probably damaging	1.00
R7784:Septin4	UTSW	11	87,469,834 (GRCm39)	missense	probably benign
R7790:Septin4	UTSW	11	87,480,065 (GRCm39)	missense	probably damaging	1.00
R8320:Septin4	UTSW	11	87,480,560 (GRCm39)	missense	possibly damaging	0.68
R9289:Septin4	UTSW	11	87,459,792 (GRCm39)	nonsense	probably null
R9613:Septin4	UTSW	11	87,469,823 (GRCm39)	missense	possibly damaging	0.53
T0970:Septin4	UTSW	11	87,458,558 (GRCm39)	missense	probably damaging	0.98
Z1177:Septin4	UTSW	11	87,458,748 (GRCm39)	missense	probably benign

Posted On

2015-04-16