Mutagenetix > Incidental Mutation

Incidental Mutation 'R4086:Septin10'

317373

Institutional Source

Beutler Lab

Gene Symbol

Septin10

Ensembl Gene

ENSMUSG00000019917

Gene Name

septin 10

Synonyms

9430099J10Rik, 4921515A04Rik, Sept10

MMRRC Submission

041625-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R4086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58977446-59057322 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 59028045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 92 (L92*)

Ref Sequence

ENSEMBL: ENSMUSP00000151293 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158119

Predicted Effect

probably null
Transcript: ENSMUST00000165971
AA Change: L92*

SMART Domains

Protein: ENSMUSP00000129023
Gene: ENSMUSG00000019917
AA Change: L92*

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 null
Transcript: ENSMUST00000220156
AA Change: L92*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (58/58)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd7	G	A	2: 3,341,488 (GRCm39)		probably null	Het
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Adcy7	A	G	8: 89,042,414 (GRCm39)	D427G	probably benign	Het
Adrm1	A	G	2: 179,814,627 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,233,984 (GRCm39)	I1103M	probably benign	Het
Arhgap32	A	C	9: 32,158,362 (GRCm39)		probably benign	Het
Arhgef28	T	C	13: 98,103,712 (GRCm39)	R767G	probably damaging	Het
BC046251	A	G	7: 65,231,896 (GRCm39)		noncoding transcript	Het
Brwd1	T	C	16: 95,847,572 (GRCm39)	S683G	probably benign	Het
Calcoco1	C	G	15: 102,618,834 (GRCm39)		probably benign	Het
Carmil1	G	T	13: 24,208,444 (GRCm39)	P834T	possibly damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col24a1	G	A	3: 145,167,192 (GRCm39)	G1090R	probably damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Ets2	C	A	16: 95,510,833 (GRCm39)	D30E	probably damaging	Het
Fam181b	T	C	7: 92,729,788 (GRCm39)	V187A	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxo41	C	T	6: 85,455,528 (GRCm39)	R552Q	possibly damaging	Het
Fstl5	G	T	3: 76,555,593 (GRCm39)	C53F	probably damaging	Het
Ftsj3	T	C	11: 106,140,395 (GRCm39)	Y791C	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm15446	A	G	5: 110,091,121 (GRCm39)	K458E	probably benign	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Ipo9	A	G	1: 135,316,428 (GRCm39)		probably benign	Het
Krtap31-1	C	T	11: 99,799,145 (GRCm39)	T116I	possibly damaging	Het
Mafa	T	G	15: 75,618,986 (GRCm39)	K262N	probably damaging	Het
Nxph4	T	C	10: 127,362,555 (GRCm39)	Y112C	probably damaging	Het
Or5ak4	C	A	2: 85,162,170 (GRCm39)	W24L	probably benign	Het
Or6c70	A	G	10: 129,710,167 (GRCm39)	V153A	possibly damaging	Het
Pgls	G	A	8: 72,048,734 (GRCm39)	A142T	probably damaging	Het
Phlpp1	A	G	1: 106,274,891 (GRCm39)	I885V	probably benign	Het
Prkcq	A	G	2: 11,288,679 (GRCm39)	D544G	probably damaging	Het
Rnf44	T	C	13: 54,830,148 (GRCm39)	N254D	possibly damaging	Het
Slc14a2	A	T	18: 78,248,998 (GRCm39)	I156N	probably damaging	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Thap12	A	G	7: 98,365,701 (GRCm39)	D623G	possibly damaging	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Trim65	G	A	11: 116,017,305 (GRCm39)	Q386*	probably null	Het
Ube2u	T	A	4: 100,407,039 (GRCm39)	I187N	probably benign	Het
Vmn1r90	G	A	7: 14,297,219 (GRCm39)		probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Xpo4	C	T	14: 57,880,490 (GRCm39)		probably benign	Het
Zbtb21	A	T	16: 97,753,963 (GRCm39)	Y135N	probably damaging	Het
Zbtb22	T	A	17: 34,137,142 (GRCm39)	V429D	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zhx1	T	C	15: 57,916,317 (GRCm39)	E643G	possibly damaging	Het
Zzef1	C	T	11: 72,765,879 (GRCm39)	H1469Y	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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGTAAAGTCGTGTATTGTATCAGC -3'
(R):5'- CCTTGAAGCCATTCTAGAGTTTG -3'

Sequencing Primer
(F):5'- CCCTGAAATAAGAGTGGTCT -3'
(R):5'- AGTGATTCTCTGCACGTGTGAAAATG -3'

Posted On

2015-05-15