Mutagenetix > Incidental Mutation

Incidental Mutation 'R7646:Septin8'

590552

Institutional Source

Beutler Lab

Gene Symbol

Septin8

Ensembl Gene

ENSMUSG00000018398

Gene Name

septin 8

Synonyms

Sept8, Sepl

MMRRC Submission

045724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R7646 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53410224-53440432 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 53428744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104615 (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 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

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

0.9595

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,113,937 (GRCm39)	H936R	probably benign	Het
Afg3l1	C	A	8: 124,219,766 (GRCm39)	D431E	possibly damaging	Het
Agrn	T	C	4: 156,279,811 (GRCm39)	N120S	probably damaging	Het
Apob	A	G	12: 8,059,189 (GRCm39)	D2557G	probably damaging	Het
Atl2	A	G	17: 80,162,036 (GRCm39)	Y359H	probably damaging	Het
Banp	T	C	8: 122,750,775 (GRCm39)	S489P	possibly damaging	Het
Cage1	A	G	13: 38,206,823 (GRCm39)	C341R	probably damaging	Het
Cdh23	T	C	10: 60,140,931 (GRCm39)	N3139S	possibly damaging	Het
Chd2	G	T	7: 73,085,521 (GRCm39)	S1704R	possibly damaging	Het
Col4a2	T	A	8: 11,495,086 (GRCm39)	F1515I	probably benign	Het
Crocc	T	A	4: 140,748,966 (GRCm39)	Q1613L	probably null	Het
Cttnbp2	A	T	6: 18,375,939 (GRCm39)	S1533R	probably damaging	Het
Dlgap5	C	T	14: 47,636,976 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,868,651 (GRCm39)	D362N	probably benign	Het
Elf5	G	T	2: 103,269,588 (GRCm39)	K56N	probably benign	Het
Emsy	G	A	7: 98,268,560 (GRCm39)	P508S	probably damaging	Het
Fam135a	T	C	1: 24,067,704 (GRCm39)	H1055R	probably benign	Het
Fh1	C	T	1: 175,442,479 (GRCm39)	V124I	probably benign	Het
Gbf1	T	A	19: 46,272,111 (GRCm39)	D1610E	probably damaging	Het
Glp1r	A	G	17: 31,155,257 (GRCm39)	K415E	probably benign	Het
Glyr1	T	C	16: 4,836,361 (GRCm39)	D496G	probably damaging	Het
Herc2	A	G	7: 55,784,361 (GRCm39)	I1342V	probably benign	Het
Hoxa7	A	G	6: 52,192,699 (GRCm39)	*230Q	probably null	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ildr1	T	A	16: 36,542,281 (GRCm39)	M271K	possibly damaging	Het
Klk1b22	T	G	7: 43,765,542 (GRCm39)		probably null	Het
Lig3	T	A	11: 82,674,304 (GRCm39)	N43K	probably benign	Het
Mcmdc2	A	G	1: 9,982,360 (GRCm39)	T83A	possibly damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,298,498 (GRCm39)	S2179T	possibly damaging	Het
Mrpl38	G	A	11: 116,023,593 (GRCm39)	S282L	probably damaging	Het
Ndst2	A	G	14: 20,774,527 (GRCm39)		probably null	Het
Nlrp4a	C	G	7: 26,148,987 (GRCm39)	A198G	probably damaging	Het
Nup98	A	C	7: 101,803,242 (GRCm39)	S653A	probably benign	Het
Or12e8	A	G	2: 87,188,102 (GRCm39)	I105V	probably benign	Het
Or13a27	A	G	7: 139,925,864 (GRCm39)	F13L	probably damaging	Het
Or14j10	G	T	17: 37,935,295 (GRCm39)	T77K	probably damaging	Het
Or51ai2	G	A	7: 103,587,504 (GRCm39)	A306T	probably damaging	Het
Or8k37	C	A	2: 86,469,513 (GRCm39)	D180Y	probably damaging	Het
Pclo	A	T	5: 14,570,909 (GRCm39)	D98V	probably damaging	Het
Peg3	A	T	7: 6,712,221 (GRCm39)	D1000E	probably benign	Het
Polr3h	A	G	15: 81,801,571 (GRCm39)	Y131H	probably damaging	Het
Rapgef6	A	G	11: 54,516,780 (GRCm39)	I346V	probably benign	Het
Rufy1	T	A	11: 50,301,436 (GRCm39)	K332M	probably damaging	Het
Scn1a	T	C	2: 66,118,102 (GRCm39)	M404V	possibly damaging	Het
Sesn3	A	G	9: 14,219,911 (GRCm39)	D100G	probably damaging	Het
Setx	A	G	2: 29,067,561 (GRCm39)	I2388V	possibly damaging	Het
Skint5	T	A	4: 113,620,739 (GRCm39)		probably null	Het
Slc25a23	C	T	17: 57,366,759 (GRCm39)		probably benign	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slco3a1	G	A	7: 74,154,344 (GRCm39)	A76V	probably damaging	Het
Stradb	A	T	1: 59,033,567 (GRCm39)	D410V	probably benign	Het
Syne1	T	C	10: 5,122,949 (GRCm39)	D329G	probably damaging	Het
Syt4	A	C	18: 31,574,658 (GRCm39)	S320A	possibly damaging	Het
Tnfsf4	A	G	1: 161,244,733 (GRCm39)	T141A	possibly damaging	Het
Trim34b	G	A	7: 103,984,559 (GRCm39)	A279T	probably damaging	Het
Trpm6	A	T	19: 18,845,325 (GRCm39)	D1675V	probably benign	Het
Vmn2r24	T	A	6: 123,793,169 (GRCm39)	M832K	probably benign	Het
Wdr90	A	G	17: 26,079,104 (GRCm39)	V246A	probably benign	Het
Xkr6	G	T	14: 63,844,423 (GRCm39)	D149Y	probably damaging	Het
Zfp108	A	G	7: 23,960,840 (GRCm39)	Y477C	probably damaging	Het
Zfp37	T	G	4: 62,109,532 (GRCm39)	I552L	probably damaging	Het
Zfp426	A	T	9: 20,381,320 (GRCm39)	S556T	probably damaging	Het
Zfp954	G	A	7: 7,118,720 (GRCm39)	L275F	possibly 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
R6285:Septin8	UTSW	11	53,425,594 (GRCm39)	splice site	probably null
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
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'- TTGAGCACCTGAAGCGAATCC -3'
(R):5'- GTGAACAGTGAGCGTGAGGC -3'

Sequencing Primer
(F):5'- CTGAAGCGAATCCACCAGG -3'
(R):5'- AGCGGTGAGTGTGAGGC -3'

Posted On

2019-10-24