Mutagenetix > Incidental Mutations

Incidental Mutation 'R7784:Sept4'

599454

Institutional Source

Beutler Lab

Gene Symbol

Sept4

Ensembl Gene

ENSMUSG00000020486

Gene Name

septin 4

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R7784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87568903-87590539 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87579008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 7 (T7A)

Ref Sequence

ENSEMBL: ENSMUSP00000103595 (fasta)

Gene Model

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

AlphaFold

P28661
Q5ND19

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
AA Change: T7A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103595
Gene: ENSMUSG00000020486
AA Change: T7A

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,828		probably null	Het
3425401B19Rik	A	T	14: 32,659,840	S1389R	probably benign	Het
Abca9	A	T	11: 110,154,417	C363*	probably null	Het
Actbl2	T	A	13: 111,255,411	N93K	probably damaging	Het
Adamtsl3	T	C	7: 82,573,989	Y993H	probably damaging	Het
Adgrg1	G	A	8: 95,012,882	W653*	probably null	Het
Akap13	T	A	7: 75,610,328	V97D	probably benign	Het
C130026I21Rik	T	A	1: 85,212,474		probably null	Het
Cacna1d	T	A	14: 30,123,439	D613V	probably damaging	Het
Col10a1	C	A	10: 34,394,218	P62H	unknown	Het
Cpb2	A	T	14: 75,275,040	N298Y	probably damaging	Het
Ddc	A	G	11: 11,839,396		probably null	Het
Ddx6	T	C	9: 44,630,142		probably null	Het
Epb42	T	G	2: 121,034,435	K58N	probably benign	Het
Eps8	T	A	6: 137,499,587	I605L	probably benign	Het
Eps8l1	T	C	7: 4,472,122	L304P	probably damaging	Het
Erbb4	T	A	1: 68,075,499	I929F	probably damaging	Het
Erc2	A	T	14: 27,898,594	N393I	probably damaging	Het
Fbxw25	C	T	9: 109,650,119	D355N		Het
Ffar2	T	C	7: 30,819,258	K286E	probably benign	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Ganc	G	A	2: 120,436,668	W488*	probably null	Het
Gm5724	C	T	6: 141,713,193		probably null	Het
Ifi207	T	A	1: 173,730,132	M347L	unknown	Het
Kat6b	A	T	14: 21,660,841	I619F	probably damaging	Het
Kif26a	A	G	12: 112,178,147	R1612G	possibly damaging	Het
Kifc3	A	G	8: 95,110,692		probably null	Het
Krt39	A	T	11: 99,521,031	C76*	probably null	Het
Lcmt1	G	T	7: 123,401,495	R84L	probably benign	Het
Lrit1	A	G	14: 37,061,780	Y355C	probably benign	Het
Mad2l1	C	A	6: 66,535,413		probably null	Het
Med23	C	T	10: 24,902,448	T870M	probably damaging	Het
Mrpl2	A	G	17: 46,648,591		probably null	Het
Mtmr6	A	G	14: 60,300,445	D593G	probably benign	Het
Myo15b	G	A	11: 115,861,340	V683M		Het
Neb	T	A	2: 52,235,488	M506L		Het
Olfr103	T	C	17: 37,336,578	Y218C	probably benign	Het
Olfr103	A	G	17: 37,337,055	F59S	probably damaging	Het
Olfr1154	G	A	2: 87,903,193	T161I	probably benign	Het
Olfr434	T	A	6: 43,217,388	H158Q	possibly damaging	Het
Pdzd8	A	G	19: 59,327,863	F294L	probably damaging	Het
Rabgap1	G	A	2: 37,487,532	S347N	possibly damaging	Het
Rasgrf2	T	C	13: 91,896,082	T350A		Het
Rbp3	A	T	14: 33,954,158	H21L	probably benign	Het
Rp1	C	A	1: 4,142,658	V1069F	unknown	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Ryr3	A	G	2: 112,775,695	F2407L	probably damaging	Het
Sept2	T	A	1: 93,497,444	D107E	probably damaging	Het
Slc34a3	T	A	2: 25,232,225	I123F	probably damaging	Het
Slc9a4	T	C	1: 40,600,776	Y243H	probably damaging	Het
Slco1a1	T	A	6: 141,943,388	E66V	probably damaging	Het
Spata33	A	G	8: 123,213,252	R68G	unknown	Het
Spta1	G	A	1: 174,202,451	D928N	probably damaging	Het
St8sia5	A	G	18: 77,254,550	S319G	probably benign	Het
Tmem208	A	G	8: 105,328,833	D149G	possibly damaging	Het
Trank1	A	T	9: 111,364,103	I583F	probably damaging	Het
Trio	C	T	15: 27,763,994	V2015M	probably damaging	Het
Tsc22d1	C	T	14: 76,416,701	Q207*	probably null	Het
Tshr	A	G	12: 91,505,305	D143G	probably benign	Het
Txlna	C	T	4: 129,632,157	R299H	probably damaging	Het
Ush2a	A	T	1: 188,444,592	T1318S	possibly damaging	Het
Utp14b	A	G	1: 78,664,943	K186R	probably damaging	Het
Vars2	C	T	17: 35,658,158	A884T	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp775	A	G	6: 48,619,249	Q19R	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
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
R7790:Sept4	UTSW	11	87589239	missense	probably damaging	1.00
R8320:Sept4	UTSW	11	87589734	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CCTCTCGTGATGGAGATAAGGATG -3'
(R):5'- TTCTTCTCACAGGCAGGTGG -3'

Sequencing Primer
(F):5'- TAAGGATGGTAGGGGGTCCC -3'
(R):5'- TGGCAGAAACGAGTCCCC -3'

Posted On

2019-11-26