Mutagenetix > Incidental Mutation

Incidental Mutation 'R5034:Septin8'

389453

Institutional Source

Beutler Lab

Gene Symbol

Septin8

Ensembl Gene

ENSMUSG00000018398

Gene Name

septin 8

Synonyms

Sept8, Sepl

MMRRC Submission

042625-MU

Accession Numbers

Essential gene?

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

Stock #

R5034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53410224-53440432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53425265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 53 (T53A)

Ref Sequence

ENSEMBL: ENSMUSP00000113038 (fasta)

Gene Model

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

AlphaFold

Q8CHH9

Predicted Effect

probably damaging
Transcript: ENSMUST00000108987
AA Change: T53A

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

SMART Domains

Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: T53A

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: T53A

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

SMART Domains

Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: T53A

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

possibly damaging
Transcript: ENSMUST00000120878
AA Change: T53A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: T53A

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: T53A

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

SMART Domains

Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: T53A

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: T53A

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

SMART Domains

Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: T53A

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

0.6042

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (67/69)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,136,090 (GRCm39)	S482T	probably benign	Het
Adam6b	G	T	12: 113,454,547 (GRCm39)	G455C	probably damaging	Het
Ahsg	C	A	16: 22,717,650 (GRCm39)	P237Q	probably damaging	Het
Asxl2	A	G	12: 3,552,193 (GRCm39)	S1312G	probably damaging	Het
Brinp3	C	T	1: 146,603,458 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,564,649 (GRCm39)	H1677R	probably damaging	Het
Cops7a	A	G	6: 124,939,583 (GRCm39)		probably null	Het
Csmd2	G	A	4: 127,952,901 (GRCm39)	A117T	probably damaging	Het
Csmd3	T	C	15: 47,492,683 (GRCm39)	R3153G	possibly damaging	Het
Dctn4	A	G	18: 60,685,956 (GRCm39)	N342D	probably benign	Het
Dennd5a	A	T	7: 109,499,004 (GRCm39)	I953N	probably damaging	Het
Dmwd	T	C	7: 18,814,219 (GRCm39)	S290P	probably damaging	Het
Dsc1	T	A	18: 20,228,084 (GRCm39)	Y424F	possibly damaging	Het
Far2	C	A	6: 148,074,939 (GRCm39)	L391M	probably benign	Het
Foxd3	G	A	4: 99,545,327 (GRCm39)	G156S	probably damaging	Het
Galk2	A	T	2: 125,771,495 (GRCm39)	E173D	probably benign	Het
Hcar1	T	C	5: 124,017,732 (GRCm39)		probably benign	Het
Hsd17b11	C	T	5: 104,166,087 (GRCm39)	V91M	possibly damaging	Het
Ighv1-77	C	T	12: 115,825,494 (GRCm39)	C115Y	probably damaging	Het
Ighv9-2	A	G	12: 114,073,025 (GRCm39)	F9S	probably damaging	Het
Kdm6b	A	G	11: 69,292,736 (GRCm39)		probably benign	Het
Kif21a	T	A	15: 90,852,561 (GRCm39)	R890W	probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Magel2	A	T	7: 62,029,616 (GRCm39)	H840L	unknown	Het
Mrgpra4	A	G	7: 47,631,317 (GRCm39)	F95L	probably benign	Het
Myo7b	A	G	18: 32,104,440 (GRCm39)	L1436P	probably damaging	Het
Nf1	C	T	11: 79,334,976 (GRCm39)	P943S	probably damaging	Het
Obscn	T	A	11: 58,952,502 (GRCm39)	R4153*	probably null	Het
Oosp2	T	C	19: 11,628,899 (GRCm39)	I67M	probably damaging	Het
Or5m13b	C	A	2: 85,753,891 (GRCm39)	S93Y	probably damaging	Het
Pcdh9	T	A	14: 93,564,285 (GRCm39)	D1023V	probably benign	Het
Pcdhb14	T	C	18: 37,581,859 (GRCm39)	S322P	probably damaging	Het
Pde2a	A	G	7: 101,151,231 (GRCm39)	D285G	probably benign	Het
Pde5a	G	C	3: 122,646,235 (GRCm39)	G809R	probably damaging	Het
Pde5a	G	T	3: 122,646,236 (GRCm39)	G809V	probably damaging	Het
Pphln1	T	C	15: 93,350,010 (GRCm39)	V120A	probably benign	Het
Rictor	T	C	15: 6,797,576 (GRCm39)	S311P	probably damaging	Het
Rilpl1	T	C	5: 124,631,887 (GRCm39)	D153G	probably damaging	Het
Rmdn3	G	T	2: 118,978,058 (GRCm39)	A181E	probably damaging	Het
Rnf213	G	A	11: 119,301,633 (GRCm39)	V369M	probably damaging	Het
Scyl1	T	A	19: 5,810,022 (GRCm39)	R601S	probably benign	Het
Sdcbp	G	A	4: 6,393,118 (GRCm39)		probably null	Het
Sfpq	A	G	4: 126,917,462 (GRCm39)		probably benign	Het
Slc35b3	A	G	13: 39,127,134 (GRCm39)	Y163H	probably damaging	Het
Sra1	A	G	18: 36,812,048 (GRCm39)		probably null	Het
Sspo	A	T	6: 48,457,757 (GRCm39)	N3231Y	possibly damaging	Het
Tcf3	A	G	10: 80,253,377 (GRCm39)	V218A	possibly damaging	Het
Tgm3	T	C	2: 129,879,404 (GRCm39)	V332A	possibly damaging	Het
Tmprss11f	C	T	5: 86,739,243 (GRCm39)		probably benign	Het
Trbv4	A	G	6: 41,036,624 (GRCm39)	T50A	probably benign	Het
Trdv2-2	C	A	14: 54,198,882 (GRCm39)	Y57*	probably null	Het
Trim50	T	C	5: 135,396,147 (GRCm39)	V365A	possibly damaging	Het
Ubash3b	T	C	9: 40,941,036 (GRCm39)	Q245R	probably benign	Het
Ulk3	T	A	9: 57,501,047 (GRCm39)	V338E	possibly damaging	Het
Usf3	A	C	16: 44,036,762 (GRCm39)	K414T	probably damaging	Het
Usp48	C	T	4: 137,334,068 (GRCm39)	R161*	probably null	Het
Vps18	A	T	2: 119,123,787 (GRCm39)	D238V	probably benign	Het
Vps35l	T	C	7: 118,390,611 (GRCm39)	V368A	probably damaging	Het
Zfp354c	T	C	11: 50,705,866 (GRCm39)	E403G	probably benign	Het
Zscan18	A	G	7: 12,508,072 (GRCm39)	V476A	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
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
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'- CCATGACAGGGCAAGTTGAG -3'
(R):5'- ATTGATCTGATCGCCAAAGCC -3'

Sequencing Primer
(F):5'- GGCCTTACACATGTCAGGCAAG -3'
(R):5'- CCACAGCATCCACGATGGTC -3'

Posted On

2016-06-06