Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Septin8'

441502

Institutional Source

Beutler Lab

Gene Symbol

Septin8

Ensembl Gene

ENSMUSG00000018398

Gene Name

septin 8

Synonyms

Sept8, Sepl

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

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

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53410224-53440432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53428044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 286 (E286G)

Ref Sequence

ENSEMBL: ENSMUSP00000120427 (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: E286G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104615
Gene: ENSMUSG00000018398
AA Change: E286G

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: E286G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112920
Gene: ENSMUSG00000018398
AA Change: E286G

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: E284G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113775
Gene: ENSMUSG00000018398
AA Change: E284G

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: E286G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113038
Gene: ENSMUSG00000018398
AA Change: E286G

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: E286G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120427
Gene: ENSMUSG00000018398
AA Change: E286G

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
H1f6	A	G	13: 23,880,219 (GRCm39)	K124R	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	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
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'- AGGCTCCCAACCATTGTCTG -3'
(R):5'- TGCAGCTCGCTTAGGAACTC -3'

Sequencing Primer
(F):5'- GTTGTACCCCCACCATCTGAATG -3'
(R):5'- GCCTCATATGTCTCTTGGAGGC -3'

Posted On

2016-11-08