Mutagenetix > Incidental Mutations

Incidental Mutation 'R3774:Sept8'

273513

Institutional Source

Beutler Lab

Gene Symbol

Sept8

Ensembl Gene

ENSMUSG00000018398

Gene Name

septin 8

Synonyms

Sepl

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R3774 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53519257-53549565 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53537579 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 352 (V352A)

Ref Sequence

ENSEMBL: ENSMUSP00000113038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108987] [ENSMUST00000117061] [ENSMUST00000120878] [ENSMUST00000121334] [ENSMUST00000142800] [ENSMUST00000147912]

Predicted Effect

probably damaging
Transcript: ENSMUST00000108987
AA Change: V352A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: V352A

Domain	Start	End	E-Value	Type
Pfam:Septin	41	314	1.9e-101	PFAM
Pfam:MMR_HSR1	46	191	5.7e-7	PFAM
low complexity region	351	374	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117061
AA Change: V352A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: V352A

Domain	Start	End	E-Value	Type
Pfam:Septin	41	314	6.5e-101	PFAM
Pfam:MMR_HSR1	46	191	1.3e-6	PFAM
low complexity region	351	374	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120878
AA Change: V350A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: V350A

Domain	Start	End	E-Value	Type
Pfam:Septin	41	312	6.4e-98	PFAM
Pfam:MMR_HSR1	46	190	6.3e-7	PFAM
low complexity region	349	372	N/A	INTRINSIC
low complexity region	377	392	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121334
AA Change: V352A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: V352A

Domain	Start	End	E-Value	Type
Pfam:Septin	41	314	1.9e-100	PFAM
Pfam:MMR_HSR1	46	187	2.6e-7	PFAM
low complexity region	351	374	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142800

SMART Domains

Protein: ENSMUSP00000124057
Gene: ENSMUSG00000018398

Domain	Start	End	E-Value	Type
Pfam:Septin	1	51	5.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145927

Predicted Effect

probably damaging
Transcript: ENSMUST00000147912
AA Change: V352A

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

SMART Domains

Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: V352A

Domain	Start	End	E-Value	Type
Pfam:Septin	41	314	2.1e-101	PFAM
Pfam:MMR_HSR1	46	190	6e-7	PFAM
low complexity region	351	374	N/A	INTRINSIC
low complexity region	379	394	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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 of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit myelin outfoldings and reduced nerve conduction velocity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	A	G	3: 153,933,097	V213A	probably benign	Het
Ccndbp1	A	G	2: 121,009,100	K26R	possibly damaging	Het
Chrna10	T	C	7: 102,114,328	T87A	probably benign	Het
Col27a1	T	A	4: 63,314,726	N360K	probably benign	Het
Crispld2	T	C	8: 120,029,266	S325P	probably damaging	Het
Dgkd	T	A	1: 87,936,300	I79N	probably damaging	Het
Dhdh	T	A	7: 45,481,938	D157V	probably benign	Het
Dnajc15	A	T	14: 77,856,937		probably null	Het
Fbxo44	G	T	4: 148,156,594	F179L	probably damaging	Het
Gm5565	T	A	5: 146,158,609	E192V	probably benign	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Itgav	A	G	2: 83,791,964	E630G	probably damaging	Het
Iws1	T	C	18: 32,079,995	S159P	probably damaging	Het
Kif23	G	A	9: 61,924,992	S623L	probably benign	Het
Krt32	A	G	11: 100,088,121	C36R	probably benign	Het
Med12l	A	C	3: 59,247,942	Q1181P	probably damaging	Het
Megf10	G	A	18: 57,277,105	G653S	probably damaging	Het
Mon1a	A	G	9: 107,901,303	Y242C	probably damaging	Het
Msh6	G	T	17: 87,986,181	R788L	probably damaging	Het
Mttp	T	C	3: 138,114,263		probably null	Het
Mxi1	C	A	19: 53,371,729	A294E	probably benign	Het
Olfm5	T	A	7: 104,161,849	R27S	possibly damaging	Het
Olfr667	T	A	7: 104,916,906	Y130F	probably benign	Het
Palmd	T	C	3: 116,927,663	E81G	probably damaging	Het
Pecr	A	G	1: 72,259,371	F297L	probably benign	Het
Phf11b	A	G	14: 59,326,057	L137S	probably benign	Het
Phlpp1	GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	1: 106,393,191		probably benign	Het
Plcb4	A	G	2: 135,958,145	K472E	probably benign	Het
Pomgnt1	G	A	4: 116,154,128	R230H	probably damaging	Het
Pomt1	A	G	2: 32,244,250	H261R	possibly damaging	Het
Ppm1d	T	C	11: 85,337,167	I303T	probably damaging	Het
Ptprc	T	G	1: 138,064,773	Q1205H	probably damaging	Het
Rad23b	C	T	4: 55,382,589	T264I	possibly damaging	Het
Rfc1	T	C	5: 65,264,406	Y1050C	probably damaging	Het
Slc25a13	T	A	6: 6,109,288	Q358L	probably damaging	Het
Ssh1	T	C	5: 113,966,722	D12G	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnik	T	C	3: 28,638,419	Y820H	probably damaging	Het
Trpm3	T	C	19: 22,978,602	F1143L	possibly damaging	Het
Trpm3	T	A	19: 22,987,975	S1611R	probably benign	Het
Ttyh3	A	G	5: 140,648,734	F32L	probably damaging	Het
Unkl	T	A	17: 25,188,407		probably null	Het
Vwf	T	A	6: 125,649,099		probably null	Het
Wdr11	T	A	7: 129,631,693		probably null	Het
Yeats2	A	G	16: 20,150,495	D12G	probably damaging	Het

Other mutations in Sept8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Sept8	APN	11	53531996	missense	probably benign	0.08
IGL01649:Sept8	APN	11	53535028	missense	possibly damaging	0.79
IGL02131:Sept8	APN	11	53537857	missense	possibly damaging	0.79
IGL02547:Sept8	APN	11	53537265	missense	probably damaging	1.00
R0856:Sept8	UTSW	11	53537870	missense	probably benign	0.01
R0908:Sept8	UTSW	11	53537870	missense	probably benign	0.01
R1799:Sept8	UTSW	11	53534483	missense	probably benign	0.32
R4747:Sept8	UTSW	11	53536718	missense	probably damaging	1.00
R4810:Sept8	UTSW	11	53534589	missense	probably damaging	0.97
R5034:Sept8	UTSW	11	53534438	missense	probably damaging	1.00
R5313:Sept8	UTSW	11	53535982	missense	probably damaging	1.00
R5652:Sept8	UTSW	11	53537217	missense	probably damaging	1.00
R6263:Sept8	UTSW	11	53548383	missense	probably benign	0.00
R6285:Sept8	UTSW	11	53534767	splice site	probably null
R6289:Sept8	UTSW	11	53534478	missense	probably damaging	0.99
R6571:Sept8	UTSW	11	53537163	missense	probably damaging	1.00
R7238:Sept8	UTSW	11	53536692	missense	possibly damaging	0.68
R7249:Sept8	UTSW	11	53535122	missense	probably damaging	0.97
R7646:Sept8	UTSW	11	53537917	critical splice donor site	probably null
R7691:Sept8	UTSW	11	53537587	missense	probably benign	0.00
R8170:Sept8	UTSW	11	53537857	missense	possibly damaging	0.79
X0024:Sept8	UTSW	11	53536724	nonsense	probably null
X0058:Sept8	UTSW	11	53535085	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CACTTGCTATCTCAGGCCTG -3'
(R):5'- ATTCGCTTCAGGTGCTCAAAC -3'

Sequencing Primer
(F):5'- TGGTGGGAGCCCTGAGTC -3'
(R):5'- CAGGTGCTCAAACTTCTCATGGAG -3'

Posted On

2015-03-25