Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00230:Sept9'

2201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sept9

Ensembl Gene

ENSMUSG00000059248

Gene Name

septin 9

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

117199661-117362325 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 117354804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019038] [ENSMUST00000093907] [ENSMUST00000100193] [ENSMUST00000106349] [ENSMUST00000106354] [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: ENSMUST00000100193

SMART Domains

Protein: ENSMUSP00000097767
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	23	138	1.1e-8	PFAM
Pfam:Septin	44	323	3.4e-113	PFAM
Pfam:GTP_EFTU	47	123	6.2e-6	PFAM
Pfam:AIG1	48	138	2.4e-7	PFAM
Pfam:MMR_HSR1	49	194	4.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106349

SMART Domains

Protein: ENSMUSP00000101956
Gene: ENSMUSG00000059248

Domain	Start	End	E-Value	Type
Pfam:DUF258	23	138	1.1e-8	PFAM
Pfam:Septin	44	323	3.4e-113	PFAM
Pfam:GTP_EFTU	47	123	6.2e-6	PFAM
Pfam:AIG1	48	138	2.4e-7	PFAM
Pfam:MMR_HSR1	49	194	4.6e-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 benign
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

noncoding transcript
Transcript: ENSMUST00000129387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134852

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155331

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Hist1h2bm	G	T	13: 21,722,375	R93L	possibly damaging	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	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
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
R7562:Sept9	UTSW	11	117326511	critical splice donor site	probably null
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

Posted On

2011-12-09