Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Septin3'

342704

Institutional Source

Beutler Lab

Gene Symbol

Septin3

Ensembl Gene

ENSMUSG00000022456

Gene Name

septin 3

Synonyms

Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82153003-82178775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82170092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 206 (E206G)

Ref Sequence

ENSEMBL: ENSMUSP00000155480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023095] [ENSMUST00000116423] [ENSMUST00000230365] [ENSMUST00000230418] [ENSMUST00000230507]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023095
AA Change: E206G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: E206G

Domain	Start	End	E-Value	Type
Pfam:DUF258	27	143	9.1e-9	PFAM
Pfam:Septin	45	322	8.9e-117	PFAM
Pfam:AIG1	49	145	2.6e-7	PFAM
Pfam:MMR_HSR1	50	220	2.3e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116423
AA Change: E206G

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: E206G

Domain	Start	End	E-Value	Type
Pfam:Septin	45	322	1.2e-116	PFAM
Pfam:MMR_HSR1	50	195	3.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229067

Predicted Effect

probably damaging
Transcript: ENSMUST00000230365
AA Change: E206G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000230418

Predicted Effect

possibly damaging
Transcript: ENSMUST00000230507
AA Change: E62G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230799

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mug1	A	T	6: 121,834,310 (GRCm39)	I364F	probably benign	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	Het

Other mutations in Septin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Septin3	APN	15	82,163,814 (GRCm39)	unclassified	probably benign
IGL01979:Septin3	APN	15	82,168,593 (GRCm39)	missense	probably damaging	0.99
IGL03118:Septin3	APN	15	82,168,715 (GRCm39)	splice site	probably null
R0478:Septin3	UTSW	15	82,175,007 (GRCm39)	missense	probably damaging	1.00
R0556:Septin3	UTSW	15	82,167,966 (GRCm39)	unclassified	probably benign
R3804:Septin3	UTSW	15	82,170,630 (GRCm39)	splice site	probably benign
R3876:Septin3	UTSW	15	82,170,002 (GRCm39)	missense	probably damaging	1.00
R4744:Septin3	UTSW	15	82,174,658 (GRCm39)	critical splice donor site	probably null
R5954:Septin3	UTSW	15	82,174,628 (GRCm39)	missense	probably damaging	1.00
R6434:Septin3	UTSW	15	82,163,804 (GRCm39)	missense	possibly damaging	0.92
R7257:Septin3	UTSW	15	82,173,414 (GRCm39)	missense	probably damaging	0.99
R7475:Septin3	UTSW	15	82,170,657 (GRCm39)	missense	probably benign	0.00
R7641:Septin3	UTSW	15	82,174,983 (GRCm39)	missense	probably damaging	1.00
R7754:Septin3	UTSW	15	82,174,974 (GRCm39)	missense	probably benign	0.03
R7895:Septin3	UTSW	15	82,170,020 (GRCm39)	missense	probably benign	0.00
R7991:Septin3	UTSW	15	82,170,654 (GRCm39)	missense	probably benign	0.39
R9328:Septin3	UTSW	15	82,173,439 (GRCm39)	missense	probably damaging	0.99
R9347:Septin3	UTSW	15	82,167,914 (GRCm39)	missense	probably damaging	0.99
R9368:Septin3	UTSW	15	82,163,739 (GRCm39)	missense	probably damaging	0.98
R9456:Septin3	UTSW	15	82,167,352 (GRCm39)	missense	probably benign	0.19
R9646:Septin3	UTSW	15	82,170,088 (GRCm39)	missense	probably benign	0.01
RF020:Septin3	UTSW	15	82,168,662 (GRCm39)	missense	probably damaging	1.00
X0065:Septin3	UTSW	15	82,163,705 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTGAAGCAGTAGACATGTGC -3'
(R):5'- TTGGTCCCAGGAACGTCTAG -3'

Sequencing Primer
(F):5'- TTCAGCCAGGTTCCCAGAC -3'
(R):5'- AGGAACGTCTAGCCCTTGC -3'

Posted On

2015-09-24