Mutagenetix > Incidental Mutation

Incidental Mutation 'R2141:Septin4'

236286

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

040144-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.796) question?

Stock #

R2141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87457515-87481365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87474262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 60 (Q60L)

Ref Sequence

ENSEMBL: ENSMUSP00000103594 (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
AA Change: Q60L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000018544
Gene: ENSMUSG00000020486
AA Change: Q60L

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
AA Change: Q60L

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103594
Gene: ENSMUSG00000020486
AA Change: Q60L

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 benign
Transcript: ENSMUST00000107962
AA Change: Q41L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103596
Gene: ENSMUSG00000020486
AA Change: Q41L

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
AA Change: Q53L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486
AA Change: Q53L

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: ENSMUST00000135175

Predicted Effect

probably benign
Transcript: ENSMUST00000133202
AA Change: Q50L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115790
Gene: ENSMUSG00000020486
AA Change: Q50L

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: ENSMUST00000123081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134923

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136229

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132723

Meta Mutation Damage Score

0.1205

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (107/110)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	G	T	11: 58,314,752 (GRCm39)	C150F	probably damaging	Het
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Abca15	A	C	7: 120,006,697 (GRCm39)	T1654P	probably damaging	Het
Abca17	T	A	17: 24,553,240 (GRCm39)	Y157F	probably benign	Het
Aftph	A	T	11: 20,648,318 (GRCm39)	L813*	probably null	Het
Agap1	T	C	1: 89,765,477 (GRCm39)	I615T	probably damaging	Het
Ak3	T	G	19: 29,000,247 (GRCm39)	Q221H	probably benign	Het
Aldoa	A	G	7: 126,396,814 (GRCm39)		probably null	Het
Anxa8	T	C	14: 33,813,873 (GRCm39)		probably null	Het
Atpsckmt	T	C	15: 31,609,718 (GRCm39)	F146L	probably benign	Het
Baz2a	A	G	10: 127,959,481 (GRCm39)	D1329G	probably damaging	Het
Calhm6	G	T	10: 34,003,691 (GRCm39)	A72E	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep70	A	G	9: 99,178,438 (GRCm39)	Y512C	probably damaging	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Diablo	A	G	5: 123,661,424 (GRCm39)	V24A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,526,282 (GRCm39)	N335S	probably benign	Het
Flnc	A	G	6: 29,448,674 (GRCm39)	Y1304C	probably damaging	Het
Fubp3	A	G	2: 31,490,569 (GRCm39)		probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gjc3	A	C	5: 137,955,808 (GRCm39)	L159R	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm21957	G	T	7: 124,818,625 (GRCm39)		noncoding transcript	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm5885	A	G	6: 133,506,238 (GRCm39)		noncoding transcript	Het
Gon4l	A	T	3: 88,794,902 (GRCm39)	T402S	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Gvin-ps5	T	A	7: 105,929,163 (GRCm39)	T245S	probably damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Impdh2	A	G	9: 108,442,546 (GRCm39)	E305G	possibly damaging	Het
Ints7	T	A	1: 191,336,972 (GRCm39)	C351S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Kcnq3	T	C	15: 65,867,700 (GRCm39)	M648V	probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Klhl36	T	C	8: 120,603,511 (GRCm39)	C589R	possibly damaging	Het
Lck	A	G	4: 129,442,713 (GRCm39)	Y481H	probably damaging	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Myo18b	T	C	5: 113,021,892 (GRCm39)	K500R	probably benign	Het
N4bp2l2	A	T	5: 150,571,001 (GRCm39)	I458N	probably damaging	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nfasc	G	A	1: 132,524,383 (GRCm39)	P932L	probably damaging	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nkpd1	A	G	7: 19,258,162 (GRCm39)	Q647R	probably damaging	Het
Nlrc4	T	A	17: 74,754,946 (GRCm39)		probably benign	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,313,975 (GRCm39)	T95S	probably benign	Het
Or5d43	A	G	2: 88,105,354 (GRCm39)	V13A	probably benign	Het
Or5m13	A	G	2: 85,749,171 (GRCm39)	I301V	probably null	Het
Or6c201	A	G	10: 128,968,875 (GRCm39)	I254T	probably benign	Het
Pank1	G	A	19: 34,856,380 (GRCm39)	R33C	possibly damaging	Het
Pcmtd1	C	T	1: 7,239,789 (GRCm39)	R77C	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Pramel7	T	A	2: 87,320,321 (GRCm39)	H324L	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptgr3	T	C	18: 84,112,668 (GRCm39)	Y115H	probably benign	Het
Rai1	C	A	11: 60,080,293 (GRCm39)	S1452R	possibly damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rufy2	G	T	10: 62,826,773 (GRCm39)	R104L	probably damaging	Het
Senp6	T	A	9: 80,031,102 (GRCm39)	N8K	probably damaging	Het
Sipa1l2	G	A	8: 126,218,230 (GRCm39)	P369L	probably benign	Het
Slc43a1	T	C	2: 84,671,305 (GRCm39)	L37P	probably damaging	Het
Slf1	T	A	13: 77,197,338 (GRCm39)		probably null	Het
Ssr2	T	A	3: 88,483,949 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tbx18	A	G	9: 87,597,706 (GRCm39)	V276A	probably damaging	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tie1	G	A	4: 118,330,008 (GRCm39)	R1072*	probably null	Het
Tm2d2	C	A	8: 25,512,674 (GRCm39)	T174K	probably damaging	Het
Tmem98	A	G	11: 80,705,158 (GRCm39)	D82G	possibly damaging	Het
Tmub2	A	G	11: 102,178,379 (GRCm39)	E94G	possibly damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Tonsl	A	T	15: 76,516,861 (GRCm39)	I923N	probably damaging	Het
Ttc21a	G	A	9: 119,793,361 (GRCm39)	V977M	probably damaging	Het
Ube2ql1	T	C	13: 69,886,783 (GRCm39)	D226G	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Wdr87-ps	T	C	7: 29,230,935 (GRCm39)		noncoding transcript	Het
Zfp408	A	G	2: 91,478,194 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp804b	A	G	5: 6,822,583 (GRCm39)	V160A	probably benign	Het
Zfp960	A	G	17: 17,308,146 (GRCm39)	T287A	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
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
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'- AACATGTCCTCTGGCTTTGCTG -3'
(R):5'- ATAAGGATCAAGCTTGCCCC -3'

Sequencing Primer
(F):5'- GCTGTTTCTTTTAACCACACGTAC -3'
(R):5'- GATCAAGCTTGCCCCATGGAC -3'

Posted On

2014-10-01