Mutagenetix > Incidental Mutation

Incidental Mutation 'R1851:Septin4'

208116

Institutional Source

Beutler Lab

Gene Symbol

Septin4

Ensembl Gene

ENSMUSG00000020486

Gene Name

septin 4

Synonyms

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

MMRRC Submission

039875-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R1851 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87457515-87481365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87459741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 496 (D496E)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

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

AlphaFold

P28661
Q5ND19

Predicted Effect

probably damaging
Transcript: ENSMUST00000060360
AA Change: D496E

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

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: D496E

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

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	A	G	12: 18,583,687 (GRCm39)	E225G	possibly damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Abi1	A	T	2: 22,840,276 (GRCm39)	V329D	possibly damaging	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Acox3	A	T	5: 35,766,406 (GRCm39)	D624V	possibly damaging	Het
Adam6b	A	G	12: 113,455,442 (GRCm39)	D753G	probably benign	Het
Ago1	C	A	4: 126,333,788 (GRCm39)	R771L	probably benign	Het
Aktip	A	G	8: 91,852,505 (GRCm39)	V217A	possibly damaging	Het
Ankk1	A	C	9: 49,327,150 (GRCm39)	H676Q	probably benign	Het
Arl1	G	C	10: 88,569,408 (GRCm39)		probably benign	Het
Asxl3	T	A	18: 22,650,796 (GRCm39)	D928E	probably damaging	Het
AW209491	T	C	13: 14,811,318 (GRCm39)	V57A	possibly damaging	Het
B3galt4	G	T	17: 34,169,885 (GRCm39)	Q118K	probably benign	Het
Ccdc187	A	T	2: 26,166,080 (GRCm39)	M783K	probably benign	Het
Cdon	T	G	9: 35,394,454 (GRCm39)	M900R	probably damaging	Het
Ceacam5	G	A	7: 17,448,835 (GRCm39)	W67*	probably null	Het
Chd5	A	G	4: 152,462,727 (GRCm39)	S1356G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cpz	C	A	5: 35,659,902 (GRCm39)	R581L	possibly damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cym	T	A	3: 107,126,030 (GRCm39)	I78F	probably benign	Het
Defb8	A	T	8: 19,495,899 (GRCm39)	S54T	probably benign	Het
Dennd4a	A	G	9: 64,769,312 (GRCm39)	T433A	probably damaging	Het
Dhx29	A	G	13: 113,084,815 (GRCm39)	T678A	probably damaging	Het
Dspp	T	C	5: 104,321,951 (GRCm39)		probably null	Het
Enkur	G	T	2: 21,193,988 (GRCm39)	A195E	probably benign	Het
Ero1b	T	A	13: 12,619,292 (GRCm39)	S429T	possibly damaging	Het
Fh1	A	G	1: 175,435,452 (GRCm39)	S344P	probably damaging	Het
Flnc	G	T	6: 29,443,478 (GRCm39)	G553V	probably damaging	Het
Fmo1	A	T	1: 162,657,554 (GRCm39)	L529*	probably null	Het
Frem1	C	A	4: 82,868,737 (GRCm39)	V1415F	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gdpgp1	A	T	7: 79,888,349 (GRCm39)	N127Y	probably damaging	Het
Gpat2	A	G	2: 127,276,739 (GRCm39)	T648A	possibly damaging	Het
Grk6	C	T	13: 55,599,591 (GRCm39)	R225*	probably null	Het
Hells	A	T	19: 38,948,120 (GRCm39)	Q682L	probably null	Het
Hspa5	T	A	2: 34,664,690 (GRCm39)	N381K	possibly damaging	Het
Ighmbp2	T	C	19: 3,312,075 (GRCm39)	N893S	probably benign	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lats2	A	G	14: 57,934,912 (GRCm39)	L606P	probably damaging	Het
Map4k1	T	C	7: 28,699,209 (GRCm39)	Y521H	probably benign	Het
Marchf11	T	A	15: 26,387,916 (GRCm39)	V257E	probably damaging	Het
Med23	G	A	10: 24,786,768 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,715,395 (GRCm39)	D696G	probably benign	Het
Ms4a7	T	A	19: 11,301,788 (GRCm39)	M212L	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myh1	T	C	11: 67,095,224 (GRCm39)	Y195H	probably damaging	Het
Napb	G	T	2: 148,548,909 (GRCm39)	H110Q	probably benign	Het
Ngly1	C	T	14: 16,260,585 (GRCm38)	P90S	probably damaging	Het
Nlrp1b	T	A	11: 71,073,442 (GRCm39)	I134L	possibly damaging	Het
Nup210	A	G	6: 90,993,036 (GRCm39)	L1017P	probably damaging	Het
Nup85	T	A	11: 115,472,643 (GRCm39)	I233N	probably damaging	Het
Obsl1	A	G	1: 75,469,537 (GRCm39)	V965A	probably damaging	Het
Or4c12	A	C	2: 89,774,158 (GRCm39)	Y100*	probably null	Het
Or4f6	T	C	2: 111,839,036 (GRCm39)	D165G	probably benign	Het
Or6c5c	T	C	10: 129,299,370 (GRCm39)	L275P	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Pard6g	C	T	18: 80,160,357 (GRCm39)	R157C	probably damaging	Het
Pcdhb7	A	T	18: 37,475,631 (GRCm39)	T256S	possibly damaging	Het
Phrf1	T	C	7: 140,820,831 (GRCm39)	F153L	probably damaging	Het
Pigw	A	T	11: 84,768,874 (GRCm39)	F152I	probably damaging	Het
Pip4k2c	A	G	10: 127,036,744 (GRCm39)	S222P	probably damaging	Het
Pjvk	A	G	2: 76,487,775 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,940,875 (GRCm39)	V1355M	probably damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prss22	G	A	17: 24,215,288 (GRCm39)	P163S	probably damaging	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Scn7a	T	C	2: 66,510,635 (GRCm39)	I1256V	probably benign	Het
Sema4d	A	G	13: 51,865,258 (GRCm39)	V362A	possibly damaging	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Tacc3	G	T	5: 33,825,544 (GRCm39)	V425L	probably benign	Het
Tfdp2	A	T	9: 96,179,762 (GRCm39)	K125I	probably damaging	Het
Tjp2	C	T	19: 24,076,899 (GRCm39)	R952Q	possibly damaging	Het
Tk2	G	T	8: 104,975,077 (GRCm39)	S30*	probably null	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Tmprss9	G	A	10: 80,728,119 (GRCm39)	V570M	probably damaging	Het
Tnk2	C	A	16: 32,498,280 (GRCm39)	P26Q	probably damaging	Het
Tnpo2	T	G	8: 85,778,401 (GRCm39)	V610G	probably damaging	Het
Trim37	T	C	11: 87,109,132 (GRCm39)	F953S	probably damaging	Het
U2surp	T	A	9: 95,364,150 (GRCm39)	K589*	probably null	Het
Usp2	G	A	9: 43,987,263 (GRCm39)	R187H	probably benign	Het
Vmn2r1	C	T	3: 64,008,926 (GRCm39)	T535I	probably benign	Het
Wdr20rt	T	A	12: 65,273,925 (GRCm39)	S463T	possibly damaging	Het
Zbtb25	C	A	12: 76,396,488 (GRCm39)	G245W	probably damaging	Het
Zc3h14	T	A	12: 98,726,613 (GRCm39)	L27*	probably null	Het
Zfp2	T	C	11: 50,791,915 (GRCm39)	K43E	probably benign	Het
Zfp268	T	G	4: 145,350,820 (GRCm39)		probably benign	Het
Zfp654	A	G	16: 64,605,491 (GRCm39)	Y904H	probably benign	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
IGL02566:Septin4	APN	11	87,458,468 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTTTCAAAATAGAGTAGCTGGGAC -3'
(R):5'- CTTAGCGTACAGGACAGACAC -3'

Sequencing Primer
(F):5'- ACACATGTGGGCTGGGTCTC -3'
(R):5'- TACAGGACAGACACAGAGGCC -3'

Posted On

2014-06-23