Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Setx'

419715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Setx

Ensembl Gene

ENSMUSG00000043535

Gene Name

senataxin

Synonyms

A930037J23Rik, Als4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

29124181-29182471 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29161799 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 2062 (I2062M)

Ref Sequence

ENSEMBL: ENSMUSP00000051492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061578]

Predicted Effect

probably benign
Transcript: ENSMUST00000061578
AA Change: I2062M

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: I2062M

Domain	Start	End	E-Value	Type
low complexity region	864	876	N/A	INTRINSIC
low complexity region	1002	1020	N/A	INTRINSIC
low complexity region	1058	1079	N/A	INTRINSIC
low complexity region	1575	1594	N/A	INTRINSIC
Pfam:AAA_11	1909	2194	1.9e-68	PFAM
Pfam:AAA_19	1924	2015	2.9e-11	PFAM
Pfam:AAA_12	2201	2402	1.1e-54	PFAM
low complexity region	2499	2516	N/A	INTRINSIC
low complexity region	2576	2587	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135992

Predicted Effect

probably benign
Transcript: ENSMUST00000145422

SMART Domains

Protein: ENSMUSP00000119176
Gene: ENSMUSG00000043535

Domain	Start	End	E-Value	Type
Pfam:AAA_11	1	68	5.8e-26	PFAM
Pfam:AAA_12	75	331	4.5e-54	PFAM

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 protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility due to arrested male meiosis and reduced female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Setx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Setx	APN	2	29148445	missense	possibly damaging	0.50
IGL00806:Setx	APN	2	29127026	missense	probably damaging	1.00
IGL01346:Setx	APN	2	29144809	missense	probably damaging	1.00
IGL01623:Setx	APN	2	29163009	missense	possibly damaging	0.70
IGL02351:Setx	APN	2	29146964	missense	probably benign	0.45
IGL02358:Setx	APN	2	29146964	missense	probably benign	0.45
IGL02378:Setx	APN	2	29173726	splice site	probably benign
IGL02388:Setx	APN	2	29173653	missense	probably damaging	1.00
IGL02408:Setx	APN	2	29133930	missense	probably damaging	1.00
IGL02425:Setx	APN	2	29148408	missense	probably benign	0.00
IGL03023:Setx	APN	2	29145902	missense	probably benign	0.02
Addison	UTSW	2	29158905	missense	probably damaging	1.00
dallas	UTSW	2	29154061	frame shift	probably null
Denton	UTSW	2	29145060	missense	possibly damaging	0.81
doggie	UTSW	2	29164550	missense	probably damaging	1.00
Irving	UTSW	2	29139221	missense	probably damaging	0.99
IGL03014:Setx	UTSW	2	29139411	missense	probably damaging	1.00
PIT4403001:Setx	UTSW	2	29133955	missense	probably damaging	1.00
R0027:Setx	UTSW	2	29139221	missense	probably damaging	0.99
R0031:Setx	UTSW	2	29176929	missense	probably benign	0.02
R0070:Setx	UTSW	2	29161525	missense	probably benign	0.00
R0070:Setx	UTSW	2	29161525	missense	probably benign	0.00
R0092:Setx	UTSW	2	29146293	missense	probably benign	0.00
R0193:Setx	UTSW	2	29179673	missense	probably benign	0.21
R0281:Setx	UTSW	2	29179643	missense	probably benign	0.00
R0401:Setx	UTSW	2	29166289	nonsense	probably null
R0413:Setx	UTSW	2	29139278	missense	probably damaging	1.00
R0517:Setx	UTSW	2	29157133	missense	probably benign	0.00
R0536:Setx	UTSW	2	29158248	missense	possibly damaging	0.46
R0617:Setx	UTSW	2	29146807	missense	possibly damaging	0.86
R1183:Setx	UTSW	2	29180092	missense	probably benign
R1331:Setx	UTSW	2	29179686	missense	probably benign
R1465:Setx	UTSW	2	29140389	critical splice donor site	probably null
R1465:Setx	UTSW	2	29140389	critical splice donor site	probably null
R1467:Setx	UTSW	2	29158905	missense	probably damaging	1.00
R1467:Setx	UTSW	2	29158905	missense	probably damaging	1.00
R1482:Setx	UTSW	2	29162992	missense	probably damaging	0.99
R1599:Setx	UTSW	2	29140373	missense	probably benign	0.04
R1663:Setx	UTSW	2	29126905	missense	probably damaging	1.00
R1909:Setx	UTSW	2	29163009	missense	possibly damaging	0.70
R2117:Setx	UTSW	2	29130301	missense	probably benign	0.01
R2207:Setx	UTSW	2	29154061	frame shift	probably null
R2221:Setx	UTSW	2	29154061	frame shift	probably null
R2223:Setx	UTSW	2	29148537	missense	possibly damaging	0.89
R2223:Setx	UTSW	2	29154061	frame shift	probably null
R2273:Setx	UTSW	2	29154061	frame shift	probably null
R2274:Setx	UTSW	2	29154061	frame shift	probably null
R2275:Setx	UTSW	2	29154061	frame shift	probably null
R2309:Setx	UTSW	2	29158904	missense	probably damaging	1.00
R2328:Setx	UTSW	2	29154060	frame shift	probably null
R2328:Setx	UTSW	2	29154061	frame shift	probably null
R2329:Setx	UTSW	2	29154061	frame shift	probably null
R2331:Setx	UTSW	2	29154061	frame shift	probably null
R2332:Setx	UTSW	2	29154061	frame shift	probably null
R2429:Setx	UTSW	2	29179898	missense	probably benign	0.00
R2438:Setx	UTSW	2	29154061	frame shift	probably null
R2439:Setx	UTSW	2	29154061	frame shift	probably null
R2496:Setx	UTSW	2	29144801	missense	probably benign	0.11
R2858:Setx	UTSW	2	29154061	frame shift	probably null
R2859:Setx	UTSW	2	29154061	frame shift	probably null
R2884:Setx	UTSW	2	29148625	missense	probably damaging	0.98
R2885:Setx	UTSW	2	29148625	missense	probably damaging	0.98
R2886:Setx	UTSW	2	29148625	missense	probably damaging	0.98
R2915:Setx	UTSW	2	29172324	missense	probably damaging	0.99
R2921:Setx	UTSW	2	29154060	small deletion	probably benign
R2921:Setx	UTSW	2	29154061	frame shift	probably null
R2923:Setx	UTSW	2	29154061	frame shift	probably null
R3426:Setx	UTSW	2	29154061	frame shift	probably null
R3609:Setx	UTSW	2	29154061	frame shift	probably null
R3610:Setx	UTSW	2	29154061	frame shift	probably null
R3731:Setx	UTSW	2	29154061	frame shift	probably null
R3813:Setx	UTSW	2	29154061	frame shift	probably null
R3835:Setx	UTSW	2	29145060	missense	possibly damaging	0.81
R3871:Setx	UTSW	2	29145741	missense	probably damaging	0.98
R4013:Setx	UTSW	2	29154061	frame shift	probably null
R4014:Setx	UTSW	2	29154061	frame shift	probably null
R4015:Setx	UTSW	2	29154061	frame shift	probably null
R4017:Setx	UTSW	2	29154061	frame shift	probably null
R4246:Setx	UTSW	2	29154061	frame shift	probably null
R4248:Setx	UTSW	2	29154061	frame shift	probably null
R4297:Setx	UTSW	2	29154061	frame shift	probably null
R4298:Setx	UTSW	2	29154061	frame shift	probably null
R4539:Setx	UTSW	2	29179748	missense	probably benign	0.14
R4590:Setx	UTSW	2	29144809	missense	probably damaging	1.00
R4632:Setx	UTSW	2	29148615	missense	probably benign	0.23
R4782:Setx	UTSW	2	29144046	missense	probably damaging	0.99
R4801:Setx	UTSW	2	29146373	missense	probably benign	0.14
R4802:Setx	UTSW	2	29146373	missense	probably benign	0.14
R4975:Setx	UTSW	2	29164550	missense	probably damaging	1.00
R5040:Setx	UTSW	2	29139338	missense	probably damaging	1.00
R5133:Setx	UTSW	2	29180081	missense	probably benign	0.02
R5208:Setx	UTSW	2	29166367	missense	possibly damaging	0.63
R5237:Setx	UTSW	2	29146983	missense	probably benign	0.00
R5248:Setx	UTSW	2	29148418	missense	probably benign	0.26
R5288:Setx	UTSW	2	29134033	critical splice donor site	probably null
R5385:Setx	UTSW	2	29134033	critical splice donor site	probably null
R5387:Setx	UTSW	2	29147594	missense	probably benign	0.00
R5407:Setx	UTSW	2	29145474	missense	probably benign	0.00
R5685:Setx	UTSW	2	29171280	missense	probably damaging	1.00
R6110:Setx	UTSW	2	29140290	missense	probably damaging	1.00
R6136:Setx	UTSW	2	29148027	missense	probably benign	0.01
R6310:Setx	UTSW	2	29176935	missense	possibly damaging	0.57
R6328:Setx	UTSW	2	29174462	intron	probably benign
R6358:Setx	UTSW	2	29171348	missense	possibly damaging	0.79
R6384:Setx	UTSW	2	29173558	missense	probably damaging	1.00
R6400:Setx	UTSW	2	29130274	missense	probably damaging	0.97
R6572:Setx	UTSW	2	29173694	missense	possibly damaging	0.63
R6662:Setx	UTSW	2	29158114	missense	probably damaging	0.97
R6898:Setx	UTSW	2	29148108	missense	probably benign	0.00
R7188:Setx	UTSW	2	29148172	missense	probably benign	0.02
R7332:Setx	UTSW	2	29146626	missense	probably benign	0.00
R7357:Setx	UTSW	2	29130301	missense	probably benign	0.01
R7556:Setx	UTSW	2	29146493	missense	possibly damaging	0.88
R7646:Setx	UTSW	2	29177549	missense	possibly damaging	0.94
X0066:Setx	UTSW	2	29147879	nonsense	probably null

Posted On

2016-08-02