Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Septin4'

204052

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

039885-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.768) question?

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87457515-87481365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87458061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 145 (H145R)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

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

AlphaFold

P28661
Q5ND19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060360
AA Change: H145R

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: H145R

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: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,069,429 (GRCm39)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,726,834 (GRCm39)		probably null	Het
Cacna1a	A	T	8: 85,142,559 (GRCm39)	I96F	possibly damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,917,026 (GRCm39)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,734,902 (GRCm39)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm39)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,752,468 (GRCm39)	T178A	probably damaging	Het
Col16a1	G	A	4: 129,986,575 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,276,439 (GRCm39)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm39)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,254,911 (GRCm39)	H148R	probably damaging	Het
Crygd	T	C	1: 65,101,133 (GRCm39)	Y154C	probably benign	Het
Cubn	T	C	2: 13,313,372 (GRCm39)	Y3066C	probably damaging	Het
Defb15	C	T	8: 22,420,002 (GRCm39)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnah12	A	T	14: 26,430,412 (GRCm39)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,619,373 (GRCm39)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,736,757 (GRCm39)	V115A	probably benign	Het
Esd	A	C	14: 74,979,514 (GRCm39)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Etfbkmt	T	A	6: 149,045,649 (GRCm39)	M1K	probably null	Het
Exph5	A	G	9: 53,287,548 (GRCm39)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,508,252 (GRCm39)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,509,808 (GRCm39)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,439,853 (GRCm39)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,419,958 (GRCm39)	D592G	probably benign	Het
Inmt	G	A	6: 55,151,868 (GRCm39)	A34V	probably damaging	Het
Ints9	A	C	14: 65,263,862 (GRCm39)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,618,098 (GRCm39)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,353,068 (GRCm39)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrba	T	C	3: 86,680,510 (GRCm39)		probably null	Het
Mapk1	T	A	16: 16,844,293 (GRCm39)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,387,706 (GRCm39)	P554L	probably damaging	Het
Mki67	T	C	7: 135,301,090 (GRCm39)	T1315A	probably benign	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,113,726 (GRCm39)	I688F	probably benign	Het
Myo1d	A	T	11: 80,553,874 (GRCm39)	Y536N	probably damaging	Het
Neb	C	T	2: 52,052,199 (GRCm39)		probably null	Het
Noc2l	A	G	4: 156,322,165 (GRCm39)	R161G	probably benign	Het
Nup54	T	A	5: 92,567,426 (GRCm39)	I375L	possibly damaging	Het
Nup93	T	C	8: 95,032,730 (GRCm39)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,197,018 (GRCm39)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,235 (GRCm39)	E191G	probably damaging	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or8b12	T	A	9: 37,658,264 (GRCm39)	M278K	probably benign	Het
Panx1	A	T	9: 14,918,724 (GRCm39)	D378E	probably damaging	Het
Papss1	T	A	3: 131,288,945 (GRCm39)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,965,506 (GRCm39)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,433,239 (GRCm39)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,196,079 (GRCm39)	I255N	probably damaging	Het
Pdzph1	A	G	17: 59,229,578 (GRCm39)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Polr1a	G	A	6: 71,886,187 (GRCm39)	G14D	probably damaging	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,039,965 (GRCm39)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,733,035 (GRCm39)	R205K	probably benign	Het
Rcan2	A	T	17: 44,347,980 (GRCm39)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm39)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Setd1b	T	C	5: 123,285,676 (GRCm39)	S241P	unknown	Het
Slco1a8	T	C	6: 141,949,149 (GRCm39)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,729,148 (GRCm39)	K497R	probably benign	Het
Sspo	T	C	6: 48,467,940 (GRCm39)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tank	T	C	2: 61,480,256 (GRCm39)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,344,955 (GRCm39)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,060,405 (GRCm39)	V457A	probably damaging	Het
Trim43b	T	A	9: 88,967,624 (GRCm39)	K336N	probably damaging	Het
Trim47	T	C	11: 115,996,963 (GRCm39)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,022 (GRCm39)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm39)	S231P	probably benign	Het
Vit	A	G	17: 78,930,175 (GRCm39)	D380G	probably damaging	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 9,907,333 (GRCm39)	C131Y	possibly damaging	Het
Zfp58	A	T	13: 67,639,307 (GRCm39)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,544,435 (GRCm39)	G491C	probably damaging	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
R1851:Septin4	UTSW	11	87,459,741 (GRCm39)	missense	probably damaging	1.00
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'- AGACTACCTACACCCTGTGTC -3'
(R):5'- GGTATGCTGAAATCCTACGGGG -3'

Sequencing Primer
(F):5'- TGTGTCCCCACAGCCAG -3'
(R):5'- CTGAAATCCTACGGGGTACTTTAACC -3'

Posted On

2014-06-23