Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Septin10'

73144

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Septin10

Ensembl Gene

ENSMUSG00000019917

Gene Name

septin 10

Synonyms

9430099J10Rik, 4921515A04Rik, Sept10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

58977446-59057322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59002422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 391 (V391A)

Ref Sequence

ENSEMBL: ENSMUSP00000151293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165971] [ENSMUST00000218171] [ENSMUST00000220156]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165971
AA Change: V391A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
AA Change: V391A

Domain	Start	End	E-Value	Type
Pfam:Septin	36	307	1.1e-100	PFAM
Pfam:MMR_HSR1	41	182	2.2e-7	PFAM
low complexity region	374	389	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218171
AA Change: V164A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000220156
AA Change: V391A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,880,864 (GRCm39)	S301P	probably damaging	Het
Adam34	A	G	8: 44,104,178 (GRCm39)	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,655,628 (GRCm39)	T617I	probably damaging	Het
Aggf1	T	C	13: 95,490,479 (GRCm39)	D605G	probably damaging	Het
Atp10a	T	A	7: 58,463,373 (GRCm39)	F969I	probably benign	Het
Becn1	A	T	11: 101,182,277 (GRCm39)	N97K	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Crtac1	A	T	19: 42,272,652 (GRCm39)	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,192,319 (GRCm39)	K412E	probably damaging	Het
Dlg2	T	A	7: 91,589,267 (GRCm39)	I327N	probably damaging	Het
Ehf	T	A	2: 103,098,500 (GRCm39)		probably null	Het
Elavl4	T	C	4: 110,063,809 (GRCm39)	N264S	probably benign	Het
Enpp2	A	T	15: 54,739,065 (GRCm39)	I406N	probably damaging	Het
F10	A	T	8: 13,105,383 (GRCm39)	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,576,177 (GRCm39)	I194T	possibly damaging	Het
Fcgbp	T	C	7: 27,789,072 (GRCm39)	V546A	probably benign	Het
Fras1	A	T	5: 96,821,557 (GRCm39)	Q1438L	probably null	Het
Gm43638	T	C	5: 87,608,451 (GRCm39)	I463V	probably benign	Het
H2-T10	T	C	17: 36,431,602 (GRCm39)	D84G	probably benign	Het
Itpr1	T	C	6: 108,376,322 (GRCm39)	F1262L	probably damaging	Het
Lama1	A	G	17: 68,052,046 (GRCm39)	N335D	probably benign	Het
Lasp1	T	C	11: 97,727,016 (GRCm39)	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,567,345 (GRCm39)	I135L	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mctp2	T	C	7: 71,878,274 (GRCm39)	K268R	probably benign	Het
Nbea	A	T	3: 55,938,957 (GRCm39)	H710Q	probably benign	Het
Notch3	G	A	17: 32,385,731 (GRCm39)	R13C	unknown	Het
Ogfod1	A	T	8: 94,782,299 (GRCm39)		probably benign	Het
Or1j11	A	G	2: 36,311,716 (GRCm39)	Y102C	probably benign	Het
Or5b111	A	G	19: 13,291,490 (GRCm39)	L53P	probably damaging	Het
Or8d2	T	C	9: 38,759,548 (GRCm39)	I46T	probably damaging	Het
Pgm3	A	G	9: 86,443,932 (GRCm39)	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,694,068 (GRCm39)	I681F	probably damaging	Het
Prss23	T	C	7: 89,159,095 (GRCm39)	K325E	possibly damaging	Het
Psmd7	T	A	8: 108,313,249 (GRCm39)		probably benign	Het
Rfx2	T	A	17: 57,115,317 (GRCm39)	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,203,141 (GRCm39)	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,505,875 (GRCm39)	R1029H	probably damaging	Het
Skint6	A	G	4: 113,093,637 (GRCm39)	F169L	probably benign	Het
Slc44a4	C	T	17: 35,140,674 (GRCm39)	T289I	probably benign	Het
Spata31e5	T	C	1: 28,816,137 (GRCm39)	I632V	probably benign	Het
Srl	T	C	16: 4,315,546 (GRCm39)	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,535,256 (GRCm39)		noncoding transcript	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Tmprss7	A	G	16: 45,504,937 (GRCm39)	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589 (GRCm39)	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,285,447 (GRCm39)	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,795,061 (GRCm39)	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690 (GRCm39)	H324R	possibly damaging	Het

Other mutations in Septin10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Septin10	APN	10	59,028,642 (GRCm39)	splice site	probably benign
IGL02402:Septin10	APN	10	59,006,758 (GRCm39)	missense	probably benign	0.02
IGL02992:Septin10	APN	10	59,028,000 (GRCm39)	missense	possibly damaging	0.87
IGL03010:Septin10	APN	10	59,006,777 (GRCm39)	splice site	probably benign
IGL03164:Septin10	APN	10	59,016,921 (GRCm39)	missense	probably damaging	1.00
R1542:Septin10	UTSW	10	59,002,428 (GRCm39)	missense	probably damaging	1.00
R1945:Septin10	UTSW	10	59,016,841 (GRCm39)	critical splice donor site	probably null
R3772:Septin10	UTSW	10	59,012,709 (GRCm39)	missense	probably damaging	0.97
R4086:Septin10	UTSW	10	59,028,045 (GRCm39)	nonsense	probably null
R4560:Septin10	UTSW	10	59,019,417 (GRCm39)	missense	probably damaging	1.00
R4573:Septin10	UTSW	10	59,028,151 (GRCm39)	missense	probably damaging	0.99
R4968:Septin10	UTSW	10	59,016,943 (GRCm39)	missense	probably damaging	1.00
R5001:Septin10	UTSW	10	59,012,811 (GRCm39)	missense	probably damaging	1.00
R5437:Septin10	UTSW	10	59,012,781 (GRCm39)	missense	probably damaging	1.00
R6209:Septin10	UTSW	10	59,006,670 (GRCm39)	missense	probably damaging	1.00
R6475:Septin10	UTSW	10	59,028,133 (GRCm39)	missense	possibly damaging	0.74
R7895:Septin10	UTSW	10	59,016,871 (GRCm39)	missense	probably benign	0.08
R8507:Septin10	UTSW	10	59,012,825 (GRCm39)	missense	possibly damaging	0.93

Posted On

2013-10-07