Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Septin9'

483860

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

044227-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6062 (G1)

Quality Score

162.009

Status

Validated

Chromosome

Chromosomal Location

117090487-117253151 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117181626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 142 (E142G)

Ref Sequence

ENSEMBL: ENSMUSP00000101961 (fasta)

Gene Model

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

AlphaFold

Q80UG5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019038
AA Change: E153G

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019038
Gene: ENSMUSG00000059248
AA Change: E153G

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

possibly damaging
Transcript: ENSMUST00000093907
AA Change: E160G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000091435
Gene: ENSMUSG00000059248
AA Change: E160G

Domain	Start	End	E-Value	Type
Pfam:Septin	293	572	1.6e-112	PFAM
Pfam:MMR_HSR1	298	444	3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106354
AA Change: E142G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101961
Gene: ENSMUSG00000059248
AA Change: E142G

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

Meta Mutation Damage Score

0.1387

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Daglb	T	C	5: 143,480,358 (GRCm39)	I454T	probably benign	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly damaging	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
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'- TGTCTCGACGCACAGAGATCTC -3'
(R):5'- CTTCCTGGTTCCGATATGGG -3'

Sequencing Primer
(F):5'- GACGCACAGAGATCTCCATCG -3'
(R):5'- GCTCTGCAGTTGAGACATCG -3'

Posted On

2017-07-14