Mutagenetix > Incidental Mutations

Incidental Mutation 'R7475:Sept3'

579447

Institutional Source

Beutler Lab

Gene Symbol

Sept3

Ensembl Gene

ENSMUSG00000022456

Gene Name

septin 3

Synonyms

B530002E20Rik, Sep3, 3110018K01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R7475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82274893-82294574 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82286456 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 217 (V217A)

Ref Sequence

ENSEMBL: ENSMUSP00000112124 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023095
AA Change: V217A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: V217A

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

probably benign
Transcript: ENSMUST00000116423
AA Change: V217A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: V217A

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

probably benign
Transcript: ENSMUST00000230365
AA Change: V217A

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000230418

Predicted Effect

probably benign
Transcript: ENSMUST00000230507
AA Change: V73A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,399,989	N214K	probably benign	Het
Abcf1	A	G	17: 35,963,567		probably null	Het
Agxt2	A	T	15: 10,409,537	M508L	probably benign	Het
Akr1c21	A	T	13: 4,576,319	Y114F	probably benign	Het
Amz1	T	C	5: 140,744,186		probably null	Het
Ank1	G	T	8: 23,132,630	A1732S	probably benign	Het
Atg16l1	T	C	1: 87,760,083	S50P	possibly damaging	Het
AW551984	A	G	9: 39,597,940	S302P	probably damaging	Het
Dedd	C	A	1: 171,340,313	P185Q	probably benign	Het
Fam186a	A	T	15: 99,947,514	V283E	unknown	Het
Fat2	C	A	11: 55,303,653	V1187F	probably benign	Het
Fbxw11	T	C	11: 32,711,999		probably null	Het
Fcgbp	C	T	7: 28,102,976	T1443I	probably damaging	Het
Foxj2	A	G	6: 122,837,842	D279G	probably benign	Het
Gbp5	A	G	3: 142,501,361	D97G	probably damaging	Het
Gm49368	A	T	7: 128,107,982	T661S	possibly damaging	Het
Gria4	T	G	9: 4,513,330	T260P	probably damaging	Het
Gtf2ird2	T	A	5: 134,201,426	D195E	possibly damaging	Het
Ikzf5	A	T	7: 131,392,059	C280S	probably benign	Het
Ints9	G	T	14: 65,026,465	E395D	probably null	Het
Isoc2b	T	C	7: 4,851,085	D96G	probably benign	Het
Jmjd1c	T	G	10: 67,225,313	S967R	probably benign	Het
Kcnj3	A	T	2: 55,437,326	K42N	probably benign	Het
Kiz	T	C	2: 146,891,086	V394A	possibly damaging	Het
Knl1	A	T	2: 119,087,546	H1795L	probably damaging	Het
Lmntd2	A	G	7: 141,210,689		probably null	Het
Loxhd1	C	A	18: 77,412,305	D1690E	possibly damaging	Het
Lrp1b	T	C	2: 41,344,576	D1121G		Het
Map3k2	T	C	18: 32,199,962	V63A	possibly damaging	Het
Mcc	G	T	18: 44,476,236	A499D	probably damaging	Het
Mcpt9	T	A	14: 56,026,943	I232F	probably damaging	Het
Meltf	A	G	16: 31,881,938	K92R	probably benign	Het
Mrgpra3	T	A	7: 47,589,947	Y77F	probably damaging	Het
Ndufv2	A	G	17: 66,087,537	V111A	possibly damaging	Het
Nkd2	T	C	13: 73,825,742	E99G	probably damaging	Het
Nlk	C	A	11: 78,583,399	G358V	probably damaging	Het
Nnmt	A	T	9: 48,592,232	C165S	probably damaging	Het
Nxpe4	T	A	9: 48,393,340	C242*	probably null	Het
Oas1b	A	T	5: 120,817,640	N162I	probably damaging	Het
Olfr1191-ps1	A	G	2: 88,643,210	I148V	probably benign	Het
Otog	A	G	7: 46,267,276	N879S	probably damaging	Het
Park2	A	G	17: 11,434,614	D199G	probably benign	Het
Pcsk7	T	A	9: 45,927,625	Y612N	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgbd5	T	C	8: 124,434,011	D39G	probably benign	Het
Pkhd1l1	C	T	15: 44,505,185	Q800*	probably null	Het
Pkn3	T	C	2: 30,087,110	S621P	probably benign	Het
Polr3c	T	C	3: 96,715,185	I385V	probably benign	Het
Ppp1r21	G	T	17: 88,555,603	G257W	probably benign	Het
Pxylp1	C	T	9: 96,856,367		probably null	Het
Rasgrp1	T	C	2: 117,286,108	T613A	probably benign	Het
Robo3	C	T	9: 37,425,378	V387I	probably benign	Het
Rxfp2	T	A	5: 150,049,581	Y174N	possibly damaging	Het
Sec24a	T	C	11: 51,713,552	M746V	probably damaging	Het
Sema4f	T	A	6: 82,914,374	E571D	possibly damaging	Het
Serpinb1b	A	C	13: 33,093,565	K260N	probably benign	Het
Sin3b	A	G	8: 72,749,872	T645A	possibly damaging	Het
Sobp	C	T	10: 43,021,834	R585Q	probably damaging	Het
Specc1l	T	A	10: 75,246,447	L559Q	possibly damaging	Het
Srxn1	C	T	2: 152,105,653		probably benign	Het
Sspo	G	A	6: 48,455,860	R890Q	probably benign	Het
Stard9	A	G	2: 120,688,110	D505G	probably damaging	Het
Tjp1	A	T	7: 65,322,339	I653K	probably damaging	Het
Tnks	C	T	8: 34,831,712	E1296K	probably damaging	Het
Ttbk2	A	T	2: 120,748,640	I667N	probably benign	Het
Usp24	T	C	4: 106,342,353	S165P	possibly damaging	Het
Usp46	T	A	5: 74,028,937	K109*	probably null	Het
Vmn1r191	A	G	13: 22,178,772	C271R	probably benign	Het
Wisp3	T	A	10: 39,158,300	Y102F	probably damaging	Het
Zfp592	T	C	7: 81,023,452	S55P	probably damaging	Het
Zmynd15	T	C	11: 70,461,041	S158P	probably benign	Het
Zscan22	T	G	7: 12,906,737	C303G	probably damaging	Het

Other mutations in Sept3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01843:Sept3	APN	15	82279613	unclassified	probably benign
IGL01979:Sept3	APN	15	82284392	missense	probably damaging	0.99
IGL03118:Sept3	APN	15	82284514	splice site	probably null
R0478:Sept3	UTSW	15	82290806	missense	probably damaging	1.00
R0556:Sept3	UTSW	15	82283765	unclassified	probably benign
R3804:Sept3	UTSW	15	82286429	splice site	probably benign
R3876:Sept3	UTSW	15	82285801	missense	probably damaging	1.00
R4589:Sept3	UTSW	15	82285891	missense	probably damaging	0.99
R4744:Sept3	UTSW	15	82290457	critical splice donor site	probably null
R5954:Sept3	UTSW	15	82290427	missense	probably damaging	1.00
R6434:Sept3	UTSW	15	82279603	missense	possibly damaging	0.92
R7257:Sept3	UTSW	15	82289213	missense	probably damaging	0.99
R7641:Sept3	UTSW	15	82290782	missense	probably damaging	1.00
R7754:Sept3	UTSW	15	82290773	missense	probably benign	0.03
R7895:Sept3	UTSW	15	82285819	missense	probably benign	0.00
R7978:Sept3	UTSW	15	82285819	missense	probably benign	0.00
RF020:Sept3	UTSW	15	82284461	missense	probably damaging	1.00
X0065:Sept3	UTSW	15	82279504	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTGGTCTTGAAGGAGAGCTGAG -3'
(R):5'- CTGGGTTAGGTGACAGGACAAC -3'

Sequencing Primer
(F):5'- CTTGAAGGAGAGCTGAGAGCCC -3'
(R):5'- TGACAGGACAACGGCTTAC -3'

Posted On

2019-10-07