Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Septin9'

171426

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

039618-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1581 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

117090487-117253151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117181421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 74 (R74G)

Ref Sequence

ENSEMBL: ENSMUSP00000101961 (fasta)

Gene Model

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

AlphaFold

Q80UG5

Predicted Effect

probably benign
Transcript: ENSMUST00000019038
AA Change: R85G

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: R85G

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: R92G

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

SMART Domains

Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: R92G

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: R74G

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

SMART Domains

Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: R74G

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

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,063,347 (GRCm39)	E447G	probably benign	Het
Actn4	T	C	7: 28,598,071 (GRCm39)	T510A	probably benign	Het
Adgrb3	A	G	1: 25,133,153 (GRCm39)	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bicdl1	G	T	5: 115,789,326 (GRCm39)		probably benign	Het
Bmyc	T	C	2: 25,597,346 (GRCm39)	S137P	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Casc3	C	T	11: 98,713,644 (GRCm39)	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cibar1	T	A	4: 12,155,745 (GRCm39)		probably null	Het
Cnnm2	A	G	19: 46,751,562 (GRCm39)	T451A	probably damaging	Het
Eed	T	C	7: 89,629,676 (GRCm39)	K20E	possibly damaging	Het
Eps15	T	A	4: 109,220,383 (GRCm39)	M180K	probably benign	Het
Esr1	T	C	10: 4,947,905 (GRCm39)	I486T	probably damaging	Het
Etnppl	A	G	3: 130,422,393 (GRCm39)	I207V	possibly damaging	Het
Fancg	G	A	4: 43,007,039 (GRCm39)	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,293,030 (GRCm39)	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,839,961 (GRCm39)	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,816,626 (GRCm39)	N4120Y	probably damaging	Het
Gm4884	C	T	7: 40,693,255 (GRCm39)	S408L	probably benign	Het
Gm9476	T	C	10: 100,142,474 (GRCm39)		noncoding transcript	Het
Gria1	T	C	11: 57,127,836 (GRCm39)		probably null	Het
H6pd	T	A	4: 150,066,971 (GRCm39)	I472F	possibly damaging	Het
Hydin	A	T	8: 111,137,092 (GRCm39)	M632L	probably benign	Het
Hyou1	C	T	9: 44,300,167 (GRCm39)	P819S	probably damaging	Het
Il6st	A	G	13: 112,618,075 (GRCm39)	E163G	probably damaging	Het
Kcnk1	T	C	8: 126,722,278 (GRCm39)	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,407,114 (GRCm39)		probably null	Het
Klk1b22	A	G	7: 43,765,399 (GRCm39)	N117S	possibly damaging	Het
Klrh1	T	C	6: 129,752,796 (GRCm39)	D3G	probably benign	Het
Lpp	C	A	16: 24,500,591 (GRCm39)	C134*	probably null	Het
Lrrc37a	G	A	11: 103,347,843 (GRCm39)	R2951*	probably null	Het
Luzp2	T	A	7: 54,899,238 (GRCm39)	D285E	possibly damaging	Het
Ly75	C	T	2: 60,158,237 (GRCm39)	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,462,289 (GRCm39)	S282T	possibly damaging	Het
Nav3	T	C	10: 109,659,289 (GRCm39)	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,443,964 (GRCm39)	T253A	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or1r1	A	T	11: 73,875,347 (GRCm39)	L29H	probably damaging	Het
Padi6	T	C	4: 140,463,147 (GRCm39)	Y146C	probably damaging	Het
Pank4	C	T	4: 155,059,108 (GRCm39)	R414W	probably damaging	Het
Pclo	T	G	5: 14,571,296 (GRCm39)	I227S	probably benign	Het
Plppr4	A	G	3: 117,121,915 (GRCm39)	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,425,568 (GRCm39)	R25C	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,362,022 (GRCm39)	T192A	probably benign	Het
Rtbdn	A	G	8: 85,681,695 (GRCm39)	E131G	probably benign	Het
Ryr2	A	G	13: 11,809,449 (GRCm39)	V792A	probably benign	Het
Sacs	G	T	14: 61,451,128 (GRCm39)	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,286,538 (GRCm39)	S123G	probably benign	Het
Sipa1l2	T	A	8: 126,218,356 (GRCm39)	Q327L	probably damaging	Het
Skor1	T	C	9: 63,053,505 (GRCm39)	T127A	probably damaging	Het
Sphk2	A	G	7: 45,362,920 (GRCm39)	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,243 (GRCm39)	D101E	probably damaging	Het
Tmem43	T	A	6: 91,455,717 (GRCm39)	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814 (GRCm39)	S839I	probably damaging	Het
Trpv5	T	C	6: 41,630,074 (GRCm39)	Y672C	probably damaging	Het
Ttc39d	A	C	17: 80,523,913 (GRCm39)	S191R	probably benign	Het
Ttll1	C	T	15: 83,380,478 (GRCm39)	V296M	probably damaging	Het
Upp2	A	C	2: 58,664,177 (GRCm39)	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,398,640 (GRCm39)	C780R	probably damaging	Het
Wars1	C	A	12: 108,841,635 (GRCm39)	E171*	probably null	Het
Zeb2	A	T	2: 44,887,012 (GRCm39)	S637T	probably damaging	Het
Zfp27	T	A	7: 29,595,549 (GRCm39)	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,392,033 (GRCm39)	L442Q	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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGTCGAGGAGATTGAGCCGC -3'
(R):5'- TCTCAAGTACGCAGCCTGAAGACC -3'

Sequencing Primer
(F):5'- GAGATTGAGCCGCCCAAC -3'
(R):5'- ACTCCTGAGGCTTGACAATG -3'

Posted On

2014-04-13