Mutagenetix > Incidental Mutation

Incidental Mutation 'R7562:Sept9'

585208

Institutional Source

Beutler Lab

Gene Symbol

Sept9

Ensembl Gene

ENSMUSG00000059248

Gene Name

septin 9

Synonyms

PNUTL4, Msf, Sint1, SL3-3 integration site 1, MSF1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117199661-117362325 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 117326511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019038] [ENSMUST00000093907] [ENSMUST00000106354] [ENSMUST00000127383] [ENSMUST00000127383] [ENSMUST00000153668]

AlphaFold

Q80UG5

Predicted Effect

probably benign
Transcript: ENSMUST00000019038

SMART Domains

Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	265	379	5.3e-8	PFAM
Pfam:Septin	286	565	1.2e-112	PFAM
Pfam:GTP_EFTU	289	365	1.5e-5	PFAM
Pfam:AIG1	290	379	3.1e-7	PFAM
Pfam:MMR_HSR1	291	481	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093907

SMART Domains

Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:Septin	293	572	1.6e-112	PFAM
Pfam:MMR_HSR1	298	444	3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106354

SMART Domains

Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	254	368	4.2e-8	PFAM
Pfam:Septin	275	554	3.4e-113	PFAM
Pfam:GTP_EFTU	278	354	3.7e-6	PFAM
Pfam:AIG1	279	368	1.9e-7	PFAM
Pfam:MMR_HSR1	280	378	7.6e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000127383

SMART Domains

Protein: ENSMUSP00000120065
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	43	158	1.2e-8	PFAM
Pfam:Septin	63	242	6.2e-79	PFAM
Pfam:GTP_EFTU	66	142	9.2e-7	PFAM
Pfam:AIG1	67	161	4.2e-8	PFAM
Pfam:MMR_HSR1	68	222	8.9e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000127383

SMART Domains

Protein: ENSMUSP00000120065
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	43	158	1.2e-8	PFAM
Pfam:Septin	63	242	6.2e-79	PFAM
Pfam:GTP_EFTU	66	142	9.2e-7	PFAM
Pfam:AIG1	67	161	4.2e-8	PFAM
Pfam:MMR_HSR1	68	222	8.9e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153668

SMART Domains

Protein: ENSMUSP00000120382
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	16	74	1.2e-7	PFAM
Pfam:Septin	44	74	4e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality around E10 with generalized apoptotic degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	C	A	1: 93,159,967	V55F	probably damaging	Het
4930539E08Rik	T	C	17: 28,909,804	D45G	probably benign	Het
5430419D17Rik	T	A	7: 131,302,697	D2381E	unknown	Het
Ablim2	C	T	5: 35,873,219	T544M	probably benign	Het
Adamts12	A	G	15: 11,270,611	R651G	probably benign	Het
Adck1	G	A	12: 88,368,433	D30N	possibly damaging	Het
Alcam	T	A	16: 52,268,823	I505F	probably benign	Het
Alms1	T	C	6: 85,620,412	L740P	probably damaging	Het
Ankib1	C	T	5: 3,747,021	D264N	probably null	Het
Arid2	T	G	15: 96,401,968	H1787Q	probably damaging	Het
Asf1a	C	T	10: 53,606,187	R102*	probably null	Het
Atp2b1	C	A	10: 99,022,805		probably null	Het
Bdp1	T	C	13: 100,025,541	D2291G	probably benign	Het
Brinp3	C	G	1: 146,902,010	L732V	possibly damaging	Het
Catsperg2	A	G	7: 29,697,719	F1120L	probably benign	Het
Ccdc80	C	T	16: 45,122,903	A792V	probably damaging	Het
Cenpe	C	T	3: 135,248,634	R1751W	probably damaging	Het
Cenpm	T	C	15: 82,241,361	I66V	probably benign	Het
Clcn4	A	G	7: 7,295,082	W103R	possibly damaging	Het
Cntn2	T	C	1: 132,526,317	D317G	possibly damaging	Het
Cwf19l1	G	A	19: 44,129,241	T154M	probably damaging	Het
Cyp2a4	T	A	7: 26,312,896	M368K	possibly damaging	Het
Dars	A	G	1: 128,367,026	S413P	possibly damaging	Het
Dscc1	A	G	15: 55,084,185	Y200H	probably benign	Het
Dsn1	A	T	2: 157,000,872	D183E	probably damaging	Het
Etfdh	T	C	3: 79,623,579	Y45C	probably damaging	Het
Fam71f1	T	C	6: 29,323,834	V186A	probably damaging	Het
Fancc	A	T	13: 63,403,053		probably null	Het
Fbxo34	T	A	14: 47,529,678	M216K	probably benign	Het
Fer1l6	T	G	15: 58,560,482	S293A	probably benign	Het
Foxn1	T	A	11: 78,371,132	E137V	probably damaging	Het
Fshr	A	C	17: 88,988,497	F261V	probably damaging	Het
Gabrb3	C	T	7: 57,812,178	R153*	probably null	Het
Gps2	C	A	11: 69,916,482	N321K	probably benign	Het
Hdgf	T	C	3: 87,906,686	M20T	possibly damaging	Het
Igdcc4	G	T	9: 65,124,024	A415S	probably damaging	Het
Kif26b	A	G	1: 178,914,976	E879G	probably damaging	Het
Krt13	T	C	11: 100,119,336	Y273C	probably damaging	Het
Mag	A	G	7: 30,909,134	V185A	possibly damaging	Het
Map3k21	C	T	8: 125,938,800	T576M	probably damaging	Het
Mtrr	A	G	13: 68,566,217	F468L	probably damaging	Het
Myb	C	T	10: 21,141,754		probably null	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Nckap5l	A	T	15: 99,423,285		probably null	Het
Nop9	C	T	14: 55,749,352	R240W	probably benign	Het
Notch2	T	C	3: 98,113,114	L775P	probably damaging	Het
Olfr1221	C	T	2: 89,112,285	V76I	probably benign	Het
Olfr19	T	C	16: 16,673,715	N89D	probably benign	Het
Olfr25	A	G	9: 38,329,943	T116A	probably damaging	Het
Olfr545	T	A	7: 102,494,020	I252F	possibly damaging	Het
Olfr60	T	C	7: 140,345,230	Y253C	probably damaging	Het
Oxa1l	T	A	14: 54,363,477	W136R	probably damaging	Het
Palm3	T	A	8: 84,021,507	V7E	possibly damaging	Het
Pkhd1l1	C	G	15: 44,514,930	R1027G	possibly damaging	Het
Prickle2	A	T	6: 92,375,948	*902K	probably null	Het
Rassf7	C	T	7: 141,217,188	R105*	probably null	Het
Soga1	A	C	2: 157,053,589	L332R	probably damaging	Het
Sorbs3	T	C	14: 70,207,527	N34S	probably benign	Het
Sos2	T	C	12: 69,635,638	T269A	probably benign	Het
Spata20	T	G	11: 94,482,553	K497N	probably benign	Het
Speg	A	G	1: 75,431,279	D3206G	probably damaging	Het
Tenm4	A	G	7: 96,888,814	T1865A	probably damaging	Het
Tmc5	A	T	7: 118,623,326	Y83F	probably benign	Het
Tmem175	T	A	5: 108,641,849	D103E	probably damaging	Het
Top2b	A	C	14: 16,412,946	M952L	probably benign	Het
Vmn2r6	T	C	3: 64,556,520	I298V	probably benign	Het
Vmn2r69	T	C	7: 85,407,212	I573V	probably benign	Het
Vmn2r93	A	G	17: 18,298,469	I63M	probably benign	Het
Zfp568	G	A	7: 30,023,256	R542H	probably benign	Het

Other mutations in Sept9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Sept9	APN	11	117352184	missense	probably damaging	1.00
IGL00230:Sept9	APN	11	117354804	unclassified	probably benign
IGL01520:Sept9	APN	11	117352643	missense	probably damaging	1.00
IGL01905:Sept9	APN	11	117218889	missense	probably benign	0.07
IGL02502:Sept9	APN	11	117290662	missense	probably damaging	1.00
R0325:Sept9	UTSW	11	117356632	missense	probably damaging	0.99
R0825:Sept9	UTSW	11	117359460	missense	probably damaging	1.00
R0845:Sept9	UTSW	11	117356325	unclassified	probably benign
R1581:Sept9	UTSW	11	117290595	missense	probably damaging	1.00
R1763:Sept9	UTSW	11	117290428	missense	probably benign	0.04
R1848:Sept9	UTSW	11	117353083	unclassified	probably benign
R2039:Sept9	UTSW	11	117351617	missense	probably damaging	1.00
R2409:Sept9	UTSW	11	117360461	missense	probably damaging	1.00
R2763:Sept9	UTSW	11	117326501	missense	probably benign	0.05
R3545:Sept9	UTSW	11	117352673	missense	probably damaging	1.00
R4062:Sept9	UTSW	11	117352265	missense	probably damaging	1.00
R4601:Sept9	UTSW	11	117360484	missense	probably damaging	1.00
R5139:Sept9	UTSW	11	117356685	missense	possibly damaging	0.80
R5759:Sept9	UTSW	11	117352268	missense	probably benign	0.15
R6062:Sept9	UTSW	11	117290800	missense	possibly damaging	0.89
R6134:Sept9	UTSW	11	117352161	missense	probably damaging	1.00
R6509:Sept9	UTSW	11	117290427	missense	probably benign
R7573:Sept9	UTSW	11	117199745	start gained	probably benign
R7592:Sept9	UTSW	11	117290662	missense	probably damaging	1.00
R7810:Sept9	UTSW	11	117359438	nonsense	probably null
R8200:Sept9	UTSW	11	117232716	missense	probably benign	0.01
R9118:Sept9	UTSW	11	117266572	missense	probably benign
R9131:Sept9	UTSW	11	117290634	missense	probably damaging	1.00
R9220:Sept9	UTSW	11	117351570	missense	probably benign	0.05
R9241:Sept9	UTSW	11	117218898	missense	probably benign	0.00
R9661:Sept9	UTSW	11	117354925	missense	possibly damaging	0.91
R9735:Sept9	UTSW	11	117354854	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAACCCACTGGAGAGATGGATC -3'
(R):5'- ACAGTGGCTTGCAATGGATTC -3'

Sequencing Primer
(F):5'- CCACTGGAGAGATGGATCAAAGC -3'
(R):5'- AGGTGAACTGATGCCAGCC -3'

Posted On

2019-10-17