Mutagenetix > Incidental Mutation

Incidental Mutation 'R4601:Septin9'

345650

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117090487-117253151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117251310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 543 (K543E)

Ref Sequence

ENSEMBL: ENSMUSP00000101961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019038] [ENSMUST00000093907] [ENSMUST00000100193] [ENSMUST00000106349] [ENSMUST00000106354] [ENSMUST00000127383]

AlphaFold

Q80UG5

Predicted Effect

probably benign
Transcript: ENSMUST00000019038
AA Change: K554E

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: K554E

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: K561E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: K561E

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: ENSMUST00000100193
AA Change: K312E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097767
Gene: ENSMUSG00000059248
AA Change: K312E

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 damaging
Transcript: ENSMUST00000106349
AA Change: K312E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101956
Gene: ENSMUSG00000059248
AA Change: K312E

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 damaging
Transcript: ENSMUST00000106354
AA Change: K543E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: K543E

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: ENSMUST00000155331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134852

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.5%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Abca16	T	G	7: 120,035,920 (GRCm39)	F334L	probably damaging	Het
Abcc4	T	A	14: 118,869,575 (GRCm39)	M186L	probably benign	Het
Agap3	T	C	5: 24,681,406 (GRCm39)	L120P	probably damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Aldh1a7	A	T	19: 20,693,343 (GRCm39)	V192D	probably damaging	Het
Ankrd36	A	G	11: 5,520,102 (GRCm39)	D59G	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cacna1e	A	G	1: 154,347,359 (GRCm39)	V936A	probably benign	Het
Camkv	T	C	9: 107,823,295 (GRCm39)	V107A	probably damaging	Het
Camp	T	C	9: 109,677,730 (GRCm39)	E80G	probably damaging	Het
Cblif	A	C	19: 11,729,554 (GRCm39)	D171A	probably damaging	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd101	G	A	3: 100,901,204 (GRCm39)	T960M	possibly damaging	Het
Cdk18	A	G	1: 132,044,657 (GRCm39)	V323A	possibly damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cemip	T	C	7: 83,600,826 (GRCm39)	I932V	probably damaging	Het
Cep250	C	A	2: 155,803,973 (GRCm39)	Q28K	probably benign	Het
Ces2f	T	C	8: 105,676,596 (GRCm39)	C97R	probably damaging	Het
Cfap126	G	T	1: 170,941,627 (GRCm39)	G41C	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Chat	T	C	14: 32,146,112 (GRCm39)	M354V	probably benign	Het
Clca4b	A	T	3: 144,632,945 (GRCm39)	D168E	possibly damaging	Het
Cpxm1	T	A	2: 130,235,496 (GRCm39)	M499L	possibly damaging	Het
Dennd3	T	A	15: 73,439,009 (GRCm39)	W1126R	probably damaging	Het
Dgkb	T	C	12: 38,652,819 (GRCm39)	S735P	probably damaging	Het
Dlec1	T	C	9: 118,976,202 (GRCm39)		probably null	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Dph5	A	G	3: 115,693,426 (GRCm39)	N115D	possibly damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erich3	A	T	3: 154,470,375 (GRCm39)	D136V	unknown	Het
Exoc2	T	C	13: 31,066,251 (GRCm39)	N475S	probably benign	Het
Fam217a	T	C	13: 35,095,285 (GRCm39)	D310G	probably damaging	Het
Fam53a	C	T	5: 33,758,007 (GRCm39)	S372N	probably benign	Het
Fbn2	C	G	18: 58,186,805 (GRCm39)	G1699R	probably damaging	Het
Fbxo46	T	C	7: 18,869,489 (GRCm39)	V36A	probably benign	Het
Fhip1a	T	C	3: 85,648,487 (GRCm39)	M26V	probably damaging	Het
G6pc1	A	G	11: 101,263,567 (GRCm39)	Y127C	probably damaging	Het
Gba2	A	G	4: 43,573,810 (GRCm39)	F161L	probably damaging	Het
Gja1	T	C	10: 56,264,325 (GRCm39)	L228P	probably damaging	Het
Gm20834	A	G	Y: 10,323,178 (GRCm39)	V86A	probably benign	Het
Hmcn1	A	T	1: 150,614,396 (GRCm39)	C1337S	probably damaging	Het
Il1rl1	T	A	1: 40,480,460 (GRCm39)	S30T	possibly damaging	Het
Itgb4	A	G	11: 115,896,548 (GRCm39)	T1436A	probably damaging	Het
Itk	T	A	11: 46,227,342 (GRCm39)	Q427L	probably benign	Het
Klhdc4	T	C	8: 122,526,266 (GRCm39)	E291G	probably damaging	Het
Map4	T	A	9: 109,881,887 (GRCm39)	S250R	possibly damaging	Het
Mnt	T	A	11: 74,727,285 (GRCm39)	V57E	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtcl2	T	C	2: 156,881,844 (GRCm39)	K736R	probably benign	Het
Musk	A	T	4: 58,301,625 (GRCm39)	I128F	probably damaging	Het
Myh4	G	A	11: 67,141,136 (GRCm39)	A733T	possibly damaging	Het
Myo5a	T	A	9: 75,043,670 (GRCm39)	F220I	probably damaging	Het
Npas3	A	G	12: 54,091,361 (GRCm39)	H305R	probably damaging	Het
Nrcam	A	T	12: 44,637,839 (GRCm39)	Y1132F	probably damaging	Het
Nt5c3b	A	C	11: 100,323,744 (GRCm39)	D189E	probably benign	Het
Nuf2	A	G	1: 169,333,683 (GRCm39)	L331P	probably damaging	Het
Nup214	C	T	2: 31,887,977 (GRCm39)	T646I	probably benign	Het
Or14j9	T	C	17: 37,875,076 (GRCm39)	N42S	probably damaging	Het
Pcdh18	T	C	3: 49,699,174 (GRCm39)	E1096G	probably damaging	Het
Pgm2	T	A	5: 64,265,070 (GRCm39)	F364I	probably benign	Het
Pikfyve	A	G	1: 65,273,421 (GRCm39)	N612S	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Prkd2	G	T	7: 16,577,573 (GRCm39)		probably benign	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Sav1	A	T	12: 70,031,095 (GRCm39)	D142E	probably benign	Het
Scn3b	C	A	9: 40,199,719 (GRCm39)	P212T	probably damaging	Het
Sel1l	A	T	12: 91,799,827 (GRCm39)		probably null	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Snrpa	A	G	7: 26,894,958 (GRCm39)	M1T	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Srpk3	A	G	X: 72,818,547 (GRCm39)	H79R	possibly damaging	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Stradb	G	A	1: 59,032,731 (GRCm39)	S361N	probably damaging	Het
Sult3a2	T	C	10: 33,658,083 (GRCm39)	K10R	probably benign	Het
Susd4	A	G	1: 182,686,025 (GRCm39)	N192D	probably damaging	Het
Tcp10a	T	A	17: 7,593,374 (GRCm39)	D32E	probably benign	Het
Tdpoz4	T	A	3: 93,704,339 (GRCm39)	V212D	probably damaging	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tex55	A	G	16: 38,648,380 (GRCm39)	V243A	probably benign	Het
Traj37	T	C	14: 54,418,996 (GRCm39)		probably benign	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Vmn2r115	T	A	17: 23,565,373 (GRCm39)	L420Q	probably benign	Het
Wdr24	T	A	17: 26,047,181 (GRCm39)		probably null	Het
Wdr81	T	A	11: 75,336,484 (GRCm39)	Q516L	probably damaging	Het
Zfp516	A	G	18: 82,974,164 (GRCm39)	T121A	probably benign	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
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'- GTGAACGCCACCTGGTTTTG -3'
(R):5'- TTACCTGGCAAAGTGTGGGAAG -3'

Sequencing Primer
(F):5'- CCACCTGGTTTTGCTGGG -3'
(R):5'- ATGGATGGAGGCAGGTGAC -3'

Posted On

2015-09-25