Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02402:Septin10'

291901

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 #

IGL02402

Quality Score

Status

Chromosome

Chromosomal Location

58977446-59057322 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59006758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 93 (T93A)

Ref Sequence

ENSEMBL: ENSMUSP00000151948 (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: T320A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
AA Change: T320A

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: T93A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000220156
AA Change: T320A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,707,543 (GRCm39)	F568L	probably benign	Het
AW112010	T	A	19: 11,025,741 (GRCm39)		noncoding transcript	Het
Bbs4	A	T	9: 59,237,729 (GRCm39)	L205H	probably benign	Het
Bmal2	T	C	6: 146,711,266 (GRCm39)	V90A	possibly damaging	Het
C2cd2l	T	C	9: 44,227,878 (GRCm39)	K121R	probably benign	Het
Car14	A	G	3: 95,806,870 (GRCm39)	V198A	possibly damaging	Het
Cd22	G	T	7: 30,576,955 (GRCm39)	H117Q	possibly damaging	Het
Celf1	T	A	2: 90,829,068 (GRCm39)	I45N	probably damaging	Het
Cluh	T	C	11: 74,547,997 (GRCm39)	S103P	probably damaging	Het
Cyp39a1	T	A	17: 44,002,613 (GRCm39)	L276Q	probably benign	Het
Ddx27	T	G	2: 166,857,245 (GRCm39)		probably benign	Het
Defb4	A	T	8: 19,251,279 (GRCm39)	I49F	possibly damaging	Het
Dock8	C	A	19: 25,055,509 (GRCm39)	T157K	probably benign	Het
Dpp6	T	C	5: 27,839,541 (GRCm39)	V352A	probably damaging	Het
Elmo2	C	T	2: 165,139,312 (GRCm39)	E412K	probably damaging	Het
Eme1	G	A	11: 94,541,733 (GRCm39)	P30S	possibly damaging	Het
Espnl	G	T	1: 91,272,535 (GRCm39)	A632S	probably benign	Het
Gfod1	C	A	13: 43,354,211 (GRCm39)	A255S	probably benign	Het
Helz2	T	A	2: 180,872,704 (GRCm39)	K2432M	probably damaging	Het
Idua	T	C	5: 108,827,657 (GRCm39)	L157P	probably damaging	Het
Ifi207	T	A	1: 173,555,159 (GRCm39)	D848V	probably damaging	Het
Jag1	C	T	2: 136,927,858 (GRCm39)	S851N	possibly damaging	Het
Kat6b	T	A	14: 21,681,415 (GRCm39)	F571I	probably damaging	Het
Lrrc74b	G	A	16: 17,376,028 (GRCm39)		probably benign	Het
Mst1r	A	G	9: 107,794,026 (GRCm39)	K1160E	probably damaging	Het
Muc19	C	A	15: 91,778,192 (GRCm39)		noncoding transcript	Het
Nrg4	G	A	9: 55,135,198 (GRCm39)		probably benign	Het
Ociad1	T	C	5: 73,458,037 (GRCm39)	I12T	possibly damaging	Het
Or1o3	A	G	17: 37,574,111 (GRCm39)	V148A	possibly damaging	Het
Pold3	A	G	7: 99,749,618 (GRCm39)		probably benign	Het
Psmd5	T	C	2: 34,747,784 (GRCm39)	E291G	probably damaging	Het
Ptpn23	A	G	9: 110,222,781 (GRCm39)	V92A	possibly damaging	Het
Rab44	T	A	17: 29,359,490 (GRCm39)	H559Q	probably benign	Het
Rbm6	T	C	9: 107,730,051 (GRCm39)	D199G	probably damaging	Het
Rps18-ps3	C	T	8: 107,989,754 (GRCm39)		noncoding transcript	Het
Slmap	T	C	14: 26,184,865 (GRCm39)	T111A	probably damaging	Het
Spata25	C	T	2: 164,670,377 (GRCm39)	M1I	probably null	Het
Spink5	T	A	18: 44,100,171 (GRCm39)	C63S	probably damaging	Het
Sycp3	T	C	10: 88,302,425 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,177,567 (GRCm39)		probably benign	Het
Thbs2	A	T	17: 14,891,716 (GRCm39)	N940K	probably benign	Het
Tmem106b	A	T	6: 13,081,600 (GRCm39)	Q169L	possibly damaging	Het
Trpm6	G	T	19: 18,764,120 (GRCm39)	C242F	probably benign	Het
Ush2a	T	A	1: 187,999,305 (GRCm39)	M205K	probably benign	Het
Utp18	A	C	11: 93,774,617 (GRCm39)		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
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

2015-04-16