Mutagenetix > Incidental Mutation

Incidental Mutation 'R7562:Septin9'

585208

Institutional Source

Beutler Lab

Gene Symbol

Septin9

Ensembl Gene

ENSMUSG00000059248

Gene Name

septin 9

Synonyms

Msf, Sept9, MSF1, PNUTL4, SL3-3 integration site 1, Sint1

MMRRC Submission

045627-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7562 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117090487-117253151 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 117217337 bp (GRCm39)

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
Ablim2	C	T	5: 36,030,563 (GRCm39)	T544M	probably benign	Het
Adamts12	A	G	15: 11,270,697 (GRCm39)	R651G	probably benign	Het
Adck1	G	A	12: 88,335,203 (GRCm39)	D30N	possibly damaging	Het
Alcam	T	A	16: 52,089,186 (GRCm39)	I505F	probably benign	Het
Alms1	T	C	6: 85,597,394 (GRCm39)	L740P	probably damaging	Het
Ankib1	C	T	5: 3,797,021 (GRCm39)	D264N	probably null	Het
Arid2	T	G	15: 96,299,849 (GRCm39)	H1787Q	probably damaging	Het
Asf1a	C	T	10: 53,482,283 (GRCm39)	R102*	probably null	Het
Atp2b1	C	A	10: 98,858,667 (GRCm39)		probably null	Het
Bdp1	T	C	13: 100,162,049 (GRCm39)	D2291G	probably benign	Het
Bnip5	T	C	17: 29,128,778 (GRCm39)	D45G	probably benign	Het
Brinp3	C	G	1: 146,777,748 (GRCm39)	L732V	possibly damaging	Het
Catsperg2	A	G	7: 29,397,144 (GRCm39)	F1120L	probably benign	Het
Ccdc80	C	T	16: 44,943,266 (GRCm39)	A792V	probably damaging	Het
Cdcp3	T	A	7: 130,904,426 (GRCm39)	D2381E	unknown	Het
Cenpe	C	T	3: 134,954,395 (GRCm39)	R1751W	probably damaging	Het
Cenpm	T	C	15: 82,125,562 (GRCm39)	I66V	probably benign	Het
Clcn4	A	G	7: 7,298,081 (GRCm39)	W103R	possibly damaging	Het
Cntn2	T	C	1: 132,454,055 (GRCm39)	D317G	possibly damaging	Het
Cwf19l1	G	A	19: 44,117,680 (GRCm39)	T154M	probably damaging	Het
Cyp2a4	T	A	7: 26,012,321 (GRCm39)	M368K	possibly damaging	Het
Dars1	A	G	1: 128,294,763 (GRCm39)	S413P	possibly damaging	Het
Dscc1	A	G	15: 54,947,581 (GRCm39)	Y200H	probably benign	Het
Dsn1	A	T	2: 156,842,792 (GRCm39)	D183E	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Fancc	A	T	13: 63,550,867 (GRCm39)		probably null	Het
Fbxo34	T	A	14: 47,767,135 (GRCm39)	M216K	probably benign	Het
Fer1l6	T	G	15: 58,432,331 (GRCm39)	S293A	probably benign	Het
Foxn1	T	A	11: 78,261,958 (GRCm39)	E137V	probably damaging	Het
Fshr	A	C	17: 89,295,925 (GRCm39)	F261V	probably damaging	Het
Gabrb3	C	T	7: 57,461,926 (GRCm39)	R153*	probably null	Het
Garin1b	T	C	6: 29,323,833 (GRCm39)	V186A	probably damaging	Het
Gps2	C	A	11: 69,807,308 (GRCm39)	N321K	probably benign	Het
Hdgf	T	C	3: 87,813,993 (GRCm39)	M20T	possibly damaging	Het
Igdcc4	G	T	9: 65,031,306 (GRCm39)	A415S	probably damaging	Het
Kif26b	A	G	1: 178,742,541 (GRCm39)	E879G	probably damaging	Het
Krt13	T	C	11: 100,010,162 (GRCm39)	Y273C	probably damaging	Het
Mab21l4	C	A	1: 93,087,689 (GRCm39)	V55F	probably damaging	Het
Mag	A	G	7: 30,608,559 (GRCm39)	V185A	possibly damaging	Het
Map3k21	C	T	8: 126,665,539 (GRCm39)	T576M	probably damaging	Het
Mtcl2	A	C	2: 156,895,509 (GRCm39)	L332R	probably damaging	Het
Mtrr	A	G	13: 68,714,336 (GRCm39)	F468L	probably damaging	Het
Myb	C	T	10: 21,017,653 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	T	13: 100,356,205 (GRCm39)	Q1137K	not run	Het
Nckap5l	A	T	15: 99,321,166 (GRCm39)		probably null	Het
Nop9	C	T	14: 55,986,809 (GRCm39)	R240W	probably benign	Het
Notch2	T	C	3: 98,020,430 (GRCm39)	L775P	probably damaging	Het
Or13a27	T	C	7: 139,925,143 (GRCm39)	Y253C	probably damaging	Het
Or4c116	C	T	2: 88,942,629 (GRCm39)	V76I	probably benign	Het
Or55b10	T	A	7: 102,143,227 (GRCm39)	I252F	possibly damaging	Het
Or7a40	T	C	16: 16,491,579 (GRCm39)	N89D	probably benign	Het
Or8c9	A	G	9: 38,241,239 (GRCm39)	T116A	probably damaging	Het
Oxa1l	T	A	14: 54,600,934 (GRCm39)	W136R	probably damaging	Het
Palm3	T	A	8: 84,748,136 (GRCm39)	V7E	possibly damaging	Het
Pkhd1l1	C	G	15: 44,378,326 (GRCm39)	R1027G	possibly damaging	Het
Prickle2	A	T	6: 92,352,929 (GRCm39)	*902K	probably null	Het
Rassf7	C	T	7: 140,797,101 (GRCm39)	R105*	probably null	Het
Sorbs3	T	C	14: 70,444,976 (GRCm39)	N34S	probably benign	Het
Sos2	T	C	12: 69,682,412 (GRCm39)	T269A	probably benign	Het
Spata20	T	G	11: 94,373,379 (GRCm39)	K497N	probably benign	Het
Speg	A	G	1: 75,407,923 (GRCm39)	D3206G	probably damaging	Het
Tenm4	A	G	7: 96,538,021 (GRCm39)	T1865A	probably damaging	Het
Tmc5	A	T	7: 118,222,549 (GRCm39)	Y83F	probably benign	Het
Tmem175	T	A	5: 108,789,715 (GRCm39)	D103E	probably damaging	Het
Top2b	A	C	14: 16,412,946 (GRCm38)	M952L	probably benign	Het
Vmn2r6	T	C	3: 64,463,941 (GRCm39)	I298V	probably benign	Het
Vmn2r69	T	C	7: 85,056,420 (GRCm39)	I573V	probably benign	Het
Vmn2r93	A	G	17: 18,518,731 (GRCm39)	I63M	probably benign	Het
Zfp568	G	A	7: 29,722,681 (GRCm39)	R542H	probably benign	Het

Other mutations in Septin9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Septin9	APN	11	117,243,010 (GRCm39)	missense	probably damaging	1.00
IGL00230:Septin9	APN	11	117,245,630 (GRCm39)	unclassified	probably benign
IGL01520:Septin9	APN	11	117,243,469 (GRCm39)	missense	probably damaging	1.00
IGL01905:Septin9	APN	11	117,109,715 (GRCm39)	missense	probably benign	0.07
IGL02502:Septin9	APN	11	117,181,488 (GRCm39)	missense	probably damaging	1.00
R0325:Septin9	UTSW	11	117,247,458 (GRCm39)	missense	probably damaging	0.99
R0825:Septin9	UTSW	11	117,250,286 (GRCm39)	missense	probably damaging	1.00
R0845:Septin9	UTSW	11	117,247,151 (GRCm39)	unclassified	probably benign
R1581:Septin9	UTSW	11	117,181,421 (GRCm39)	missense	probably damaging	1.00
R1763:Septin9	UTSW	11	117,181,254 (GRCm39)	missense	probably benign	0.04
R1848:Septin9	UTSW	11	117,243,909 (GRCm39)	unclassified	probably benign
R2039:Septin9	UTSW	11	117,242,443 (GRCm39)	missense	probably damaging	1.00
R2409:Septin9	UTSW	11	117,251,287 (GRCm39)	missense	probably damaging	1.00
R2763:Septin9	UTSW	11	117,217,327 (GRCm39)	missense	probably benign	0.05
R3545:Septin9	UTSW	11	117,243,499 (GRCm39)	missense	probably damaging	1.00
R4062:Septin9	UTSW	11	117,243,091 (GRCm39)	missense	probably damaging	1.00
R4601:Septin9	UTSW	11	117,251,310 (GRCm39)	missense	probably damaging	1.00
R5139:Septin9	UTSW	11	117,247,511 (GRCm39)	missense	possibly damaging	0.80
R5759:Septin9	UTSW	11	117,243,094 (GRCm39)	missense	probably benign	0.15
R6062:Septin9	UTSW	11	117,181,626 (GRCm39)	missense	possibly damaging	0.89
R6134:Septin9	UTSW	11	117,242,987 (GRCm39)	missense	probably damaging	1.00
R6509:Septin9	UTSW	11	117,181,253 (GRCm39)	missense	probably benign
R7573:Septin9	UTSW	11	117,090,571 (GRCm39)	start gained	probably benign
R7592:Septin9	UTSW	11	117,181,488 (GRCm39)	missense	probably damaging	1.00
R7810:Septin9	UTSW	11	117,250,264 (GRCm39)	nonsense	probably null
R8200:Septin9	UTSW	11	117,123,542 (GRCm39)	missense	probably benign	0.01
R9118:Septin9	UTSW	11	117,157,398 (GRCm39)	missense	probably benign
R9131:Septin9	UTSW	11	117,181,460 (GRCm39)	missense	probably damaging	1.00
R9220:Septin9	UTSW	11	117,242,396 (GRCm39)	missense	probably benign	0.05
R9241:Septin9	UTSW	11	117,109,724 (GRCm39)	missense	probably benign	0.00
R9661:Septin9	UTSW	11	117,245,751 (GRCm39)	missense	possibly damaging	0.91
R9735:Septin9	UTSW	11	117,245,680 (GRCm39)	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