Mutagenetix > Incidental Mutation

Incidental Mutation 'R7754:Septin3'

597468

Institutional Source

Beutler Lab

Gene Symbol

Septin3

Ensembl Gene

ENSMUSG00000022456

Gene Name

septin 3

Synonyms

Sep3, B530002E20Rik, Gm46500, Sept3, 3110018K01Rik

MMRRC Submission

045810-MU

Accession Numbers

Essential gene?

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

Stock #

R7754 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82153003-82178775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82174974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 305 (N305S)

Ref Sequence

ENSEMBL: ENSMUSP00000112124 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023095
AA Change: N305S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023095
Gene: ENSMUSG00000022456
AA Change: N305S

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: N305S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112124
Gene: ENSMUSG00000022456
AA Change: N305S

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 damaging
Transcript: ENSMUST00000230365
AA Change: N305S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000230418

Predicted Effect

probably benign
Transcript: ENSMUST00000230507
AA Change: N161S

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

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

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	T	4: 88,786,496 (GRCm39)	W41R	unknown	Het
Aatf	G	A	11: 84,402,335 (GRCm39)	S117L	possibly damaging	Het
Abca12	C	A	1: 71,342,046 (GRCm39)	V972L	probably benign	Het
Abcb11	T	A	2: 69,117,162 (GRCm39)	R495S	probably damaging	Het
Acss2	T	A	2: 155,403,086 (GRCm39)	H621Q	probably benign	Het
Akap9	T	C	5: 4,096,736 (GRCm39)	L2537P	probably benign	Het
Apbb1	C	T	7: 105,208,509 (GRCm39)	A597T	probably damaging	Het
Cacna1d	A	T	14: 29,797,809 (GRCm39)	I1448N	probably damaging	Het
Cacna1e	C	T	1: 154,288,863 (GRCm39)	E1841K	probably damaging	Het
Ccdc162	G	T	10: 41,463,371 (GRCm39)	P1457Q	probably damaging	Het
Cep70	A	G	9: 99,163,145 (GRCm39)	K331E	probably damaging	Het
Cplane1	C	A	15: 8,273,310 (GRCm39)	Q2534K	possibly damaging	Het
Cstpp1	A	T	2: 91,135,188 (GRCm39)		probably null	Het
D430041D05Rik	A	T	2: 104,087,504 (GRCm39)	Y491N	probably benign	Het
Dnah6	T	C	6: 73,002,703 (GRCm39)	I3898V	probably benign	Het
Drd2	A	G	9: 49,316,277 (GRCm39)	T346A	probably benign	Het
Efcab9	T	C	11: 32,472,941 (GRCm39)	T169A	possibly damaging	Het
Fam163a	A	T	1: 155,955,729 (GRCm39)	I21N	probably damaging	Het
Fam171a2	C	T	11: 102,329,389 (GRCm39)	D457N	probably benign	Het
Fbn1	A	T	2: 125,321,200 (GRCm39)		probably null	Het
Gpr37	A	T	6: 25,689,049 (GRCm39)	L16H	probably damaging	Het
Gtf3c2	T	C	5: 31,330,175 (GRCm39)	D265G	probably benign	Het
Idh1	G	T	1: 65,198,649 (GRCm39)	A407D	probably benign	Het
Ifna12	A	G	4: 88,521,415 (GRCm39)	M44T	probably damaging	Het
Il22ra1	A	G	4: 135,461,561 (GRCm39)	M109V	probably benign	Het
Jag2	A	T	12: 112,879,089 (GRCm39)		probably null	Het
Lca5l	T	C	16: 95,960,761 (GRCm39)	D572G	unknown	Het
Lcn11	G	A	2: 25,667,830 (GRCm39)	V73I	probably benign	Het
Lrba	A	G	3: 86,352,704 (GRCm39)	T1951A	probably damaging	Het
Ltbp2	A	G	12: 84,860,012 (GRCm39)		probably null	Het
Malrd1	G	A	2: 15,802,610 (GRCm39)		probably null	Het
Morc2b	C	A	17: 33,356,218 (GRCm39)	G518V	probably benign	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Neto2	C	A	8: 86,396,329 (GRCm39)	L140F	probably damaging	Het
Nlgn1	C	T	3: 25,488,467 (GRCm39)	V623I	probably damaging	Het
Optc	A	G	1: 133,834,730 (GRCm39)	S15P	possibly damaging	Het
Or1e25	C	T	11: 73,494,332 (GRCm39)	Q309*	probably null	Het
Or1l4b	A	G	2: 37,036,858 (GRCm39)	I211M	possibly damaging	Het
Or52e19b	C	A	7: 103,032,945 (GRCm39)	W88L	probably damaging	Het
Or7c19	T	A	8: 85,957,427 (GRCm39)	M101K	possibly damaging	Het
Or9k2	T	G	10: 129,998,698 (GRCm39)	T166P	probably damaging	Het
Otogl	A	G	10: 107,705,407 (GRCm39)	V640A	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,023 (GRCm39)	S5P	probably benign	Het
Pde3a	A	T	6: 141,404,975 (GRCm39)	E400V	probably benign	Het
Pkhd1l1	A	G	15: 44,449,804 (GRCm39)	I3856V	possibly damaging	Het
Pld2	G	A	11: 70,443,695 (GRCm39)		probably null	Het
Plxna4	G	T	6: 32,129,807 (GRCm39)	H1839N	probably damaging	Het
Ppp6r2	T	C	15: 89,140,904 (GRCm39)	V89A	probably benign	Het
Rapgef3	T	C	15: 97,655,627 (GRCm39)	D420G	probably damaging	Het
Rnf17	T	A	14: 56,699,529 (GRCm39)		probably null	Het
Rps6ka2	T	A	17: 7,544,848 (GRCm39)		probably null	Het
Rptn	A	T	3: 93,303,228 (GRCm39)	D187V	probably damaging	Het
Rtn1	T	C	12: 72,355,203 (GRCm39)	K248E	probably damaging	Het
Rtn4rl1	A	T	11: 75,155,871 (GRCm39)	H101L	probably benign	Het
Serpina3f	G	T	12: 104,183,565 (GRCm39)	K142N	possibly damaging	Het
Ssh1	C	A	5: 114,104,295 (GRCm39)	R116L	probably benign	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tlr6	T	C	5: 65,111,693 (GRCm39)	K405E	possibly damaging	Het
Trbv13-2	G	A	6: 41,098,634 (GRCm39)	A70T	probably benign	Het
Ttn	A	T	2: 76,618,540 (GRCm39)	I16248N	probably damaging	Het
Ttn	A	T	2: 76,655,849 (GRCm39)		probably null	Het
Vldlr	A	T	19: 27,195,015 (GRCm39)	M1L	probably benign	Het
Wscd1	A	G	11: 71,675,191 (GRCm39)	H366R	probably damaging	Het
Zbtb8a	A	G	4: 129,251,496 (GRCm39)		probably null	Het
Zfp827	T	C	8: 79,916,958 (GRCm39)	V511A		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
R4589:Septin3	UTSW	15	82,170,092 (GRCm39)	missense	probably damaging	0.99
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
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'- TTGACATTGGTCCTCAAGGGTG -3'
(R):5'- TGCACAAATACCAGACAGGC -3'

Sequencing Primer
(F):5'- TCCTCAAGGGTGGGTCC -3'
(R):5'- AGACAGGCCTGGGGGAC -3'

Posted On

2019-11-26