Mutagenetix > Incidental Mutation

Incidental Mutation 'R4560:Septin10'

343049

Institutional Source

Beutler Lab

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 #

R4560 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58977446-59057322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59019417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 150 (Y150C)

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 damaging
Transcript: ENSMUST00000165971
AA Change: Y150C

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

SMART Domains

Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
AA Change: Y150C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220156
AA Change: Y150C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	C	14: 56,016,407 (GRCm39)		probably null	Het
Atp8b1	A	T	18: 64,689,950 (GRCm39)	L594*	probably null	Het
Atp8b1	C	T	18: 64,701,318 (GRCm39)	V347I	probably benign	Het
Axin1	A	G	17: 26,392,745 (GRCm39)	D342G	probably damaging	Het
Bace2	G	A	16: 97,223,180 (GRCm39)	R368Q	probably damaging	Het
Capn10	T	C	1: 92,867,084 (GRCm39)	Y105H	probably damaging	Het
Ccdc89	T	G	7: 90,076,336 (GRCm39)	L182R	probably damaging	Het
Cdk5rap2	A	G	4: 70,233,568 (GRCm39)	F537S	probably benign	Het
Cidec	A	T	6: 113,405,399 (GRCm39)	M118K	probably damaging	Het
Cog8	A	T	8: 107,778,843 (GRCm39)		probably null	Het
Ctif	A	T	18: 75,652,952 (GRCm39)	L435Q	probably damaging	Het
Dhx9	A	G	1: 153,342,903 (GRCm39)	V533A	probably damaging	Het
Drc1	T	A	5: 30,520,441 (GRCm39)	M594K	probably benign	Het
Dthd1	C	T	5: 62,984,435 (GRCm39)	T380I	probably damaging	Het
Fat2	A	G	11: 55,156,777 (GRCm39)	S3475P	possibly damaging	Het
G6pd2	G	A	5: 61,967,686 (GRCm39)	R487H	possibly damaging	Het
Hcrtr2	A	G	9: 76,161,970 (GRCm39)	V140A	probably damaging	Het
Ikbke	C	T	1: 131,199,857 (GRCm39)	C243Y	probably damaging	Het
Il21	C	A	3: 37,279,633 (GRCm39)	E128*	probably null	Het
Kdm7a	C	T	6: 39,129,757 (GRCm39)	R473Q	probably damaging	Het
Me3	G	T	7: 89,498,938 (GRCm39)	R506L	probably benign	Het
Mtf2	T	A	5: 108,234,855 (GRCm39)		probably null	Het
Nbas	A	G	12: 13,633,528 (GRCm39)	N2311S	probably benign	Het
Nomo1	G	T	7: 45,690,904 (GRCm39)	V97L	probably damaging	Het
Pcdhb11	G	A	18: 37,556,787 (GRCm39)	V706I	possibly damaging	Het
Pkhd1	G	A	1: 20,282,082 (GRCm39)	R2920C	probably damaging	Het
Prox2	T	C	12: 85,141,817 (GRCm39)	T129A	probably benign	Het
Rgs18	T	G	1: 144,631,720 (GRCm39)	I131L	probably benign	Het
Rnf19b	G	T	4: 128,965,616 (GRCm39)	C57F	probably damaging	Het
Rpl11	T	C	4: 135,778,522 (GRCm39)	Y122C	probably damaging	Het
Sarnp	A	G	10: 128,682,412 (GRCm39)	K5R	probably damaging	Het
Scg2	A	T	1: 79,412,898 (GRCm39)	H568Q	probably damaging	Het
Slco1b2	A	G	6: 141,616,893 (GRCm39)	T409A	probably benign	Het
Smco2	T	A	6: 146,772,674 (GRCm39)	V292D	possibly damaging	Het
Smok3c	A	G	5: 138,062,746 (GRCm39)	M78V	probably benign	Het
Spag16	C	A	1: 69,883,455 (GRCm39)	F61L	probably benign	Het
Spata22	G	A	11: 73,236,585 (GRCm39)	R297H	probably damaging	Het
Spata31d1e	A	G	13: 59,889,571 (GRCm39)	S750P	probably damaging	Het
Syt3	C	A	7: 44,045,368 (GRCm39)	P536Q	probably benign	Het
Tmem117	A	T	15: 94,992,677 (GRCm39)	M446L	probably benign	Het
Trim9	A	C	12: 70,393,892 (GRCm39)	Y17*	probably null	Het
Tsga10	A	G	1: 37,846,163 (GRCm39)	M321T	probably benign	Het
Ttc13	A	G	8: 125,402,016 (GRCm39)	L657P	probably damaging	Het
Ubxn1	C	T	19: 8,851,588 (GRCm39)	T207I	probably benign	Het
Vmn2r117	A	T	17: 23,678,851 (GRCm39)	V791D	probably damaging	Het
Vps54	C	G	11: 21,262,260 (GRCm39)	C785W	possibly damaging	Het
Zfp616	A	G	11: 73,973,860 (GRCm39)	D43G	probably benign	Het
Zfp952	A	G	17: 33,222,928 (GRCm39)	H469R	probably benign	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
IGL01296:Septin10	APN	10	59,002,422 (GRCm39)	missense	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
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

Predicted Primers

PCR Primer
(F):5'- TTGGGATTAGGACAGTAACTAGTC -3'
(R):5'- CTGGAAGATGTAGACCTCAGACTTG -3'

Sequencing Primer
(F):5'- GTTACTTGCTTAAAAAGTTCAGGAAG -3'
(R):5'- TGCACAAGTTTCTTACTAAGATAGC -3'

Posted On

2015-09-24