Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02502:Septin9'

296112

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Septin9

Ensembl Gene

ENSMUSG00000059248

Gene Name

septin 9

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02502

Quality Score

Status

Chromosome

Chromosomal Location

117090487-117253151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117181488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 96 (I96N)

Ref Sequence

ENSEMBL: ENSMUSP00000101961 (fasta)

Gene Model

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

AlphaFold

Q80UG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000019038
AA Change: I107N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: I107N

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 damaging
Transcript: ENSMUST00000093907
AA Change: I114N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: I114N

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 damaging
Transcript: ENSMUST00000106354
AA Change: I96N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: I96N

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	A	G	2: 127,917,804 (GRCm39)	N216S	probably damaging	Het
Akap12	A	G	10: 4,303,163 (GRCm39)	D96G	probably damaging	Het
Akna	A	G	4: 63,286,440 (GRCm39)	V1353A	probably benign	Het
Ambra1	A	G	2: 91,730,877 (GRCm39)	D914G	probably damaging	Het
Ap1s3	A	G	1: 79,601,439 (GRCm39)	V84A	possibly damaging	Het
Arhgef6	T	C	X: 56,325,623 (GRCm39)	E282G	probably damaging	Het
C2cd2	G	T	16: 97,677,590 (GRCm39)	S378Y	possibly damaging	Het
Cd101	C	A	3: 100,919,141 (GRCm39)	A654S	probably damaging	Het
Cep295	A	C	9: 15,262,209 (GRCm39)		probably benign	Het
Csn1s1	A	G	5: 87,828,784 (GRCm39)	I283V	probably benign	Het
Cst3	A	G	2: 148,717,065 (GRCm39)		probably benign	Het
Cyp2b9	T	C	7: 25,887,239 (GRCm39)		probably null	Het
Dffb	A	G	4: 154,050,073 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,898,351 (GRCm39)	Y3711C	probably damaging	Het
Eif4g2	T	C	7: 110,680,748 (GRCm39)	S3G	probably damaging	Het
Erbb3	C	T	10: 128,406,153 (GRCm39)	R1088H	probably benign	Het
Evpl	T	C	11: 116,113,544 (GRCm39)	D1382G	probably damaging	Het
Fam168a	A	G	7: 100,473,417 (GRCm39)	D102G	probably damaging	Het
Fbxo7	A	G	10: 85,869,161 (GRCm39)	Y284C	probably damaging	Het
G6pd2	T	C	5: 61,966,971 (GRCm39)	Y249H	probably damaging	Het
Gm1123	A	T	9: 98,891,443 (GRCm39)	Y335*	probably null	Het
Gm5624	C	T	14: 44,797,296 (GRCm39)		probably null	Het
Hectd1	A	T	12: 51,844,635 (GRCm39)	M536K	possibly damaging	Het
Ikbkg	T	A	X: 73,487,433 (GRCm39)	V334E	probably benign	Het
Ipo7	T	C	7: 109,650,257 (GRCm39)	L769P	probably damaging	Het
Jmjd1c	A	T	10: 67,061,640 (GRCm39)	K1331I	probably benign	Het
Krt32	T	C	11: 99,978,749 (GRCm39)	K102E	probably damaging	Het
Lrrc34	A	T	3: 30,699,394 (GRCm39)	N20K	probably benign	Het
Lrrc47	A	G	4: 154,100,471 (GRCm39)	E349G	probably benign	Het
Mdn1	A	G	4: 32,670,579 (GRCm39)	I415V	possibly damaging	Het
Myh10	A	G	11: 68,705,198 (GRCm39)		probably null	Het
Nbeal2	A	G	9: 110,462,836 (GRCm39)	S1376P	probably damaging	Het
Nfx1	T	C	4: 40,976,345 (GRCm39)		probably benign	Het
Nherf4	G	A	9: 44,160,948 (GRCm39)	A206V	probably benign	Het
Notch3	A	T	17: 32,377,252 (GRCm39)	C246*	probably null	Het
Nr3c2	A	G	8: 77,969,143 (GRCm39)	Y976C	probably damaging	Het
Or51b17	A	G	7: 103,542,696 (GRCm39)	V82A	probably damaging	Het
Or52n4b	T	A	7: 108,143,846 (GRCm39)	M36K	probably damaging	Het
Or5b122	A	G	19: 13,563,112 (GRCm39)	Y105C	probably damaging	Het
P2rx7	C	T	5: 122,819,050 (GRCm39)	R491C	possibly damaging	Het
Phex	T	A	X: 155,966,823 (GRCm39)	Y625F	possibly damaging	Het
Pkhd1	T	C	1: 20,462,389 (GRCm39)	D2055G	probably damaging	Het
Pmm2	T	C	16: 8,463,227 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,640,539 (GRCm39)	D16G	probably damaging	Het
Prune2	T	A	19: 17,101,245 (GRCm39)	C2250S	probably benign	Het
Rasgef1a	T	A	6: 118,057,443 (GRCm39)	F48Y	probably benign	Het
Rhoq	T	C	17: 87,271,077 (GRCm39)	V15A	probably damaging	Het
Rnf216	G	A	5: 143,054,622 (GRCm39)	A585V	probably damaging	Het
Shprh	T	A	10: 11,070,101 (GRCm39)	D1492E	possibly damaging	Het
Slc22a26	A	T	19: 7,768,125 (GRCm39)		probably null	Het
Tek	T	G	4: 94,741,818 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,741,051 (GRCm39)	E782G	probably damaging	Het
Trmt5	A	G	12: 73,328,001 (GRCm39)	C401R	probably benign	Het
Tspear	T	G	10: 77,688,792 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 38,030,933 (GRCm39)	T414I	probably benign	Het
Vcl	A	T	14: 21,069,453 (GRCm39)	T710S	probably damaging	Het
Vmn2r25	A	T	6: 123,816,392 (GRCm39)	D396E	probably damaging	Het
Wtip	A	G	7: 33,818,094 (GRCm39)		probably null	Het
Zap70	A	G	1: 36,817,887 (GRCm39)		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
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
R7562:Septin9	UTSW	11	117,217,337 (GRCm39)	critical splice donor site	probably null
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

Posted On

2015-04-16