Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Septin8'

508193

Institutional Source

Beutler Lab

Gene Symbol

Septin8

Ensembl Gene

ENSMUSG00000018398

Gene Name

septin 8

Synonyms

Sept8, Sepl

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R6285 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

53410224-53440432 bp(+) (GRCm39)

Type of Mutation

splice site (139 bp from exon)

DNA Base Change (assembly)

G to T at 53425594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120427 (fasta)

Gene Model

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

AlphaFold

Q8CHH9

Predicted Effect

probably null
Transcript: ENSMUST00000108987

SMART Domains

Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398

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 null
Transcript: ENSMUST00000117061

SMART Domains

Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398

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 null
Transcript: ENSMUST00000120878

SMART Domains

Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398

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 null
Transcript: ENSMUST00000121334

SMART Domains

Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398

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 null
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 null
Transcript: ENSMUST00000147912

SMART Domains

Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cdc7	G	A	5: 107,130,925 (GRCm39)	A428T	probably benign	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably damaging	Het

Other mutations in Septin8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Septin8	APN	11	53,422,823 (GRCm39)	missense	probably benign	0.08
IGL01649:Septin8	APN	11	53,425,855 (GRCm39)	missense	possibly damaging	0.79
IGL02131:Septin8	APN	11	53,428,684 (GRCm39)	missense	possibly damaging	0.79
IGL02547:Septin8	APN	11	53,428,092 (GRCm39)	missense	probably damaging	1.00
R0856:Septin8	UTSW	11	53,428,697 (GRCm39)	missense	probably benign	0.01
R0908:Septin8	UTSW	11	53,428,697 (GRCm39)	missense	probably benign	0.01
R1799:Septin8	UTSW	11	53,425,310 (GRCm39)	missense	probably benign	0.32
R3774:Septin8	UTSW	11	53,428,406 (GRCm39)	missense	probably damaging	1.00
R4747:Septin8	UTSW	11	53,427,545 (GRCm39)	missense	probably damaging	1.00
R4810:Septin8	UTSW	11	53,425,416 (GRCm39)	missense	probably damaging	0.97
R5034:Septin8	UTSW	11	53,425,265 (GRCm39)	missense	probably damaging	1.00
R5313:Septin8	UTSW	11	53,426,809 (GRCm39)	missense	probably damaging	1.00
R5652:Septin8	UTSW	11	53,428,044 (GRCm39)	missense	probably damaging	1.00
R6263:Septin8	UTSW	11	53,439,210 (GRCm39)	missense	probably benign	0.00
R6289:Septin8	UTSW	11	53,425,305 (GRCm39)	missense	probably damaging	0.99
R6571:Septin8	UTSW	11	53,427,990 (GRCm39)	missense	probably damaging	1.00
R7238:Septin8	UTSW	11	53,427,519 (GRCm39)	missense	possibly damaging	0.68
R7249:Septin8	UTSW	11	53,425,949 (GRCm39)	missense	probably damaging	0.97
R7646:Septin8	UTSW	11	53,428,744 (GRCm39)	critical splice donor site	probably null
R7691:Septin8	UTSW	11	53,428,414 (GRCm39)	missense	probably benign	0.00
R8170:Septin8	UTSW	11	53,428,684 (GRCm39)	missense	possibly damaging	0.79
R8776:Septin8	UTSW	11	53,428,343 (GRCm39)	missense	probably benign	0.00
R8776-TAIL:Septin8	UTSW	11	53,428,343 (GRCm39)	missense	probably benign	0.00
R8829:Septin8	UTSW	11	53,422,865 (GRCm39)	missense	probably damaging	1.00
R8899:Septin8	UTSW	11	53,426,862 (GRCm39)	missense	probably damaging	0.98
R9048:Septin8	UTSW	11	53,427,530 (GRCm39)	missense	probably damaging	1.00
R9781:Septin8	UTSW	11	53,422,889 (GRCm39)	missense	probably damaging	1.00
X0024:Septin8	UTSW	11	53,427,551 (GRCm39)	nonsense	probably null
X0058:Septin8	UTSW	11	53,425,912 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AAGCTGACCATCGTGGATGC -3'
(R):5'- GATGTAGTCAACTATGGGCCTG -3'

Sequencing Primer
(F):5'- ACCATCGTGGATGCTGTGG -3'
(R):5'- GTCAACTATGGGCCTGTAACTAC -3'

Posted On

2018-03-15