Mutagenetix > Incidental Mutation

Incidental Mutation 'R2886:Setx'

261036

Institutional Source

Beutler Lab

Gene Symbol

Setx

Ensembl Gene

ENSMUSG00000043535

Gene Name

senataxin

Synonyms

Als4, A930037J23Rik

MMRRC Submission

040474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2886 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29014193-29072483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29038637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 1707 (C1707W)

Ref Sequence

ENSEMBL: ENSMUSP00000051492 (fasta)

Gene Model

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

AlphaFold

A2AKX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061578
AA Change: C1707W

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: C1707W

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

Meta Mutation Damage Score

0.2103

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,035,712 (GRCm39)		probably benign	Het
Bicdl2	G	A	17: 23,885,732 (GRCm39)		probably null	Het
Cables1	A	G	18: 12,072,789 (GRCm39)	D448G	possibly damaging	Het
Casq2	A	T	3: 102,051,534 (GRCm39)	N338I	probably damaging	Het
Ccr1l1	T	C	9: 123,777,553 (GRCm39)	N298S	probably damaging	Het
Dnajc17	A	G	2: 119,009,933 (GRCm39)	V231A	probably benign	Het
Ell2	T	C	13: 75,911,904 (GRCm39)	S397P	probably damaging	Het
Gm9966	T	C	7: 95,607,753 (GRCm39)	C25R	unknown	Het
H2-DMa	A	G	17: 34,356,121 (GRCm39)	N41S	probably damaging	Het
Helz2	A	G	2: 180,882,535 (GRCm39)	M86T	probably benign	Het
Il17rd	T	A	14: 26,821,510 (GRCm39)	I268N	probably damaging	Het
Ipcef1	C	T	10: 6,850,641 (GRCm39)	V317M	probably damaging	Het
Itgae	A	T	11: 73,031,513 (GRCm39)	E1076D	probably benign	Het
Kcnq5	A	T	1: 21,539,771 (GRCm39)	Y382*	probably null	Het
Kif21b	G	A	1: 136,075,612 (GRCm39)		probably benign	Het
Lilrb4a	A	T	10: 51,367,709 (GRCm39)	N84Y	probably benign	Het
Mdga2	A	G	12: 66,553,044 (GRCm39)		probably benign	Het
Naca	T	C	10: 127,877,547 (GRCm39)		probably benign	Het
Naif1	C	T	2: 32,344,887 (GRCm39)	P197L	probably benign	Het
Nrk	T	C	X: 137,876,197 (GRCm39)	L466P	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Pkn1	G	A	8: 84,407,867 (GRCm39)	A421V	probably benign	Het
Rusc2	A	G	4: 43,415,456 (GRCm39)	Q254R	probably benign	Het
Ryr1	G	T	7: 28,774,223 (GRCm39)	R2404S	probably damaging	Het
Selenon	T	C	4: 134,270,380 (GRCm39)	D324G	probably null	Het
Serpinh1	T	C	7: 98,998,228 (GRCm39)	Y134C	probably damaging	Het
Serpini2	T	C	3: 75,166,921 (GRCm39)	Y112C	probably damaging	Het
Sit1	C	T	4: 43,483,314 (GRCm39)	R50H	possibly damaging	Het
Slc27a5	T	A	7: 12,723,487 (GRCm39)		probably benign	Het
Slc5a4b	C	T	10: 75,910,907 (GRCm39)	V310M	probably damaging	Het
Smc6	T	C	12: 11,326,294 (GRCm39)	V97A	probably damaging	Het
Ube2frt	A	G	12: 36,140,574 (GRCm39)		probably benign	Het
Usp42	T	C	5: 143,707,384 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,615,105 (GRCm39)		probably null	Het
Vmn2r82	A	G	10: 79,232,082 (GRCm39)	I694V	probably benign	Het
Vmn2r-ps69	T	C	7: 84,956,832 (GRCm39)		noncoding transcript	Het
Zfpm2	A	G	15: 40,965,719 (GRCm39)	T603A	probably benign	Het

Other mutations in Setx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00688:Setx	APN	2	29,038,457 (GRCm39)	missense	possibly damaging	0.50
IGL00806:Setx	APN	2	29,017,038 (GRCm39)	missense	probably damaging	1.00
IGL01346:Setx	APN	2	29,034,821 (GRCm39)	missense	probably damaging	1.00
IGL01623:Setx	APN	2	29,053,021 (GRCm39)	missense	possibly damaging	0.70
IGL02351:Setx	APN	2	29,036,976 (GRCm39)	missense	probably benign	0.45
IGL02358:Setx	APN	2	29,036,976 (GRCm39)	missense	probably benign	0.45
IGL02378:Setx	APN	2	29,063,738 (GRCm39)	splice site	probably benign
IGL02388:Setx	APN	2	29,063,665 (GRCm39)	missense	probably damaging	1.00
IGL02408:Setx	APN	2	29,023,942 (GRCm39)	missense	probably damaging	1.00
IGL02425:Setx	APN	2	29,038,420 (GRCm39)	missense	probably benign	0.00
IGL03023:Setx	APN	2	29,035,914 (GRCm39)	missense	probably benign	0.02
IGL03351:Setx	APN	2	29,051,811 (GRCm39)	missense	probably benign	0.25
Addison	UTSW	2	29,048,917 (GRCm39)	missense	probably damaging	1.00
dallas	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
Denton	UTSW	2	29,035,072 (GRCm39)	missense	possibly damaging	0.81
doggie	UTSW	2	29,054,562 (GRCm39)	missense	probably damaging	1.00
Irving	UTSW	2	29,029,233 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Setx	UTSW	2	29,035,702 (GRCm39)	missense	possibly damaging	0.69
IGL03014:Setx	UTSW	2	29,029,423 (GRCm39)	missense	probably damaging	1.00
PIT4403001:Setx	UTSW	2	29,023,967 (GRCm39)	missense	probably damaging	1.00
R0027:Setx	UTSW	2	29,029,233 (GRCm39)	missense	probably damaging	0.99
R0031:Setx	UTSW	2	29,066,941 (GRCm39)	missense	probably benign	0.02
R0070:Setx	UTSW	2	29,051,537 (GRCm39)	missense	probably benign	0.00
R0070:Setx	UTSW	2	29,051,537 (GRCm39)	missense	probably benign	0.00
R0092:Setx	UTSW	2	29,036,305 (GRCm39)	missense	probably benign	0.00
R0193:Setx	UTSW	2	29,069,685 (GRCm39)	missense	probably benign	0.21
R0281:Setx	UTSW	2	29,069,655 (GRCm39)	missense	probably benign	0.00
R0401:Setx	UTSW	2	29,056,301 (GRCm39)	nonsense	probably null
R0413:Setx	UTSW	2	29,029,290 (GRCm39)	missense	probably damaging	1.00
R0517:Setx	UTSW	2	29,047,145 (GRCm39)	missense	probably benign	0.00
R0536:Setx	UTSW	2	29,048,260 (GRCm39)	missense	possibly damaging	0.46
R0617:Setx	UTSW	2	29,036,819 (GRCm39)	missense	possibly damaging	0.86
R1183:Setx	UTSW	2	29,070,104 (GRCm39)	missense	probably benign
R1331:Setx	UTSW	2	29,069,698 (GRCm39)	missense	probably benign
R1465:Setx	UTSW	2	29,030,401 (GRCm39)	critical splice donor site	probably null
R1465:Setx	UTSW	2	29,030,401 (GRCm39)	critical splice donor site	probably null
R1467:Setx	UTSW	2	29,048,917 (GRCm39)	missense	probably damaging	1.00
R1467:Setx	UTSW	2	29,048,917 (GRCm39)	missense	probably damaging	1.00
R1482:Setx	UTSW	2	29,053,004 (GRCm39)	missense	probably damaging	0.99
R1599:Setx	UTSW	2	29,030,385 (GRCm39)	missense	probably benign	0.04
R1663:Setx	UTSW	2	29,016,917 (GRCm39)	missense	probably damaging	1.00
R1909:Setx	UTSW	2	29,053,021 (GRCm39)	missense	possibly damaging	0.70
R2117:Setx	UTSW	2	29,020,313 (GRCm39)	missense	probably benign	0.01
R2207:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2221:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2223:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2223:Setx	UTSW	2	29,038,549 (GRCm39)	missense	possibly damaging	0.89
R2273:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2274:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2275:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2309:Setx	UTSW	2	29,048,916 (GRCm39)	missense	probably damaging	1.00
R2328:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2328:Setx	UTSW	2	29,044,072 (GRCm39)	frame shift	probably null
R2329:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2331:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2332:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2429:Setx	UTSW	2	29,069,910 (GRCm39)	missense	probably benign	0.00
R2438:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2439:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2496:Setx	UTSW	2	29,034,813 (GRCm39)	missense	probably benign	0.11
R2858:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2859:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2884:Setx	UTSW	2	29,038,637 (GRCm39)	missense	probably damaging	0.98
R2885:Setx	UTSW	2	29,038,637 (GRCm39)	missense	probably damaging	0.98
R2915:Setx	UTSW	2	29,062,336 (GRCm39)	missense	probably damaging	0.99
R2921:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R2921:Setx	UTSW	2	29,044,072 (GRCm39)	small deletion	probably benign
R2923:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R3426:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R3609:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R3610:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R3731:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R3813:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R3835:Setx	UTSW	2	29,035,072 (GRCm39)	missense	possibly damaging	0.81
R3871:Setx	UTSW	2	29,035,753 (GRCm39)	missense	probably damaging	0.98
R4013:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4014:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4015:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4017:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4246:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4248:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4297:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4298:Setx	UTSW	2	29,044,073 (GRCm39)	frame shift	probably null
R4539:Setx	UTSW	2	29,069,760 (GRCm39)	missense	probably benign	0.14
R4590:Setx	UTSW	2	29,034,821 (GRCm39)	missense	probably damaging	1.00
R4632:Setx	UTSW	2	29,038,627 (GRCm39)	missense	probably benign	0.23
R4782:Setx	UTSW	2	29,034,058 (GRCm39)	missense	probably damaging	0.99
R4801:Setx	UTSW	2	29,036,385 (GRCm39)	missense	probably benign	0.14
R4802:Setx	UTSW	2	29,036,385 (GRCm39)	missense	probably benign	0.14
R4975:Setx	UTSW	2	29,054,562 (GRCm39)	missense	probably damaging	1.00
R5040:Setx	UTSW	2	29,029,350 (GRCm39)	missense	probably damaging	1.00
R5133:Setx	UTSW	2	29,070,093 (GRCm39)	missense	probably benign	0.02
R5208:Setx	UTSW	2	29,056,379 (GRCm39)	missense	possibly damaging	0.63
R5237:Setx	UTSW	2	29,036,995 (GRCm39)	missense	probably benign	0.00
R5248:Setx	UTSW	2	29,038,430 (GRCm39)	missense	probably benign	0.26
R5288:Setx	UTSW	2	29,024,045 (GRCm39)	critical splice donor site	probably null
R5385:Setx	UTSW	2	29,024,045 (GRCm39)	critical splice donor site	probably null
R5387:Setx	UTSW	2	29,037,606 (GRCm39)	missense	probably benign	0.00
R5407:Setx	UTSW	2	29,035,486 (GRCm39)	missense	probably benign	0.00
R5685:Setx	UTSW	2	29,061,292 (GRCm39)	missense	probably damaging	1.00
R6110:Setx	UTSW	2	29,030,302 (GRCm39)	missense	probably damaging	1.00
R6136:Setx	UTSW	2	29,038,039 (GRCm39)	missense	probably benign	0.01
R6310:Setx	UTSW	2	29,066,947 (GRCm39)	missense	possibly damaging	0.57
R6328:Setx	UTSW	2	29,064,474 (GRCm39)	intron	probably benign
R6358:Setx	UTSW	2	29,061,360 (GRCm39)	missense	possibly damaging	0.79
R6384:Setx	UTSW	2	29,063,570 (GRCm39)	missense	probably damaging	1.00
R6400:Setx	UTSW	2	29,020,286 (GRCm39)	missense	probably damaging	0.97
R6572:Setx	UTSW	2	29,063,706 (GRCm39)	missense	possibly damaging	0.63
R6662:Setx	UTSW	2	29,048,126 (GRCm39)	missense	probably damaging	0.97
R6898:Setx	UTSW	2	29,038,120 (GRCm39)	missense	probably benign	0.00
R7188:Setx	UTSW	2	29,038,184 (GRCm39)	missense	probably benign	0.02
R7332:Setx	UTSW	2	29,036,638 (GRCm39)	missense	probably benign	0.00
R7357:Setx	UTSW	2	29,020,313 (GRCm39)	missense	probably benign	0.01
R7556:Setx	UTSW	2	29,036,505 (GRCm39)	missense	possibly damaging	0.88
R7646:Setx	UTSW	2	29,067,561 (GRCm39)	missense	possibly damaging	0.94
R7802:Setx	UTSW	2	29,037,033 (GRCm39)	missense	probably benign	0.02
R7810:Setx	UTSW	2	29,038,663 (GRCm39)	missense	probably benign	0.43
R7831:Setx	UTSW	2	29,069,866 (GRCm39)	missense	possibly damaging	0.75
R7831:Setx	UTSW	2	29,047,120 (GRCm39)	missense	probably damaging	1.00
R7843:Setx	UTSW	2	29,063,581 (GRCm39)	missense	probably damaging	1.00
R7850:Setx	UTSW	2	29,037,430 (GRCm39)	missense	probably damaging	1.00
R7858:Setx	UTSW	2	29,051,562 (GRCm39)	missense	probably damaging	1.00
R8121:Setx	UTSW	2	29,035,046 (GRCm39)	missense	possibly damaging	0.93
R8284:Setx	UTSW	2	29,035,348 (GRCm39)	missense	possibly damaging	0.46
R8301:Setx	UTSW	2	29,035,702 (GRCm39)	missense	possibly damaging	0.69
R8752:Setx	UTSW	2	29,048,992 (GRCm39)	missense	probably damaging	0.97
R8785:Setx	UTSW	2	29,035,275 (GRCm39)	missense	probably damaging	1.00
R8871:Setx	UTSW	2	29,038,114 (GRCm39)	missense	probably benign	0.11
R8927:Setx	UTSW	2	29,016,971 (GRCm39)	missense	possibly damaging	0.59
R8928:Setx	UTSW	2	29,016,971 (GRCm39)	missense	possibly damaging	0.59
R9182:Setx	UTSW	2	29,061,299 (GRCm39)	missense	probably damaging	1.00
R9334:Setx	UTSW	2	29,044,032 (GRCm39)	nonsense	probably null
R9335:Setx	UTSW	2	29,035,963 (GRCm39)	missense	probably benign	0.00
R9491:Setx	UTSW	2	29,037,835 (GRCm39)	missense	probably benign	0.03
R9551:Setx	UTSW	2	29,020,244 (GRCm39)	missense	possibly damaging	0.80
R9627:Setx	UTSW	2	29,034,661 (GRCm39)	missense	probably damaging	1.00
R9688:Setx	UTSW	2	29,036,328 (GRCm39)	missense	probably damaging	1.00
R9689:Setx	UTSW	2	29,051,555 (GRCm39)	missense	probably damaging	1.00
R9747:Setx	UTSW	2	29,064,377 (GRCm39)	nonsense	probably null
R9780:Setx	UTSW	2	29,016,999 (GRCm39)	missense	possibly damaging	0.88
X0066:Setx	UTSW	2	29,037,891 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAGCAAACAGAGTTGCAAG -3'
(R):5'- TGGTCTAAATACTGACCAACTCC -3'

Sequencing Primer
(F):5'- GCTTACATTTAGTGAGAACAGGCC -3'
(R):5'- AACTTATAGAAACTTAGAAAGCAGGC -3'

Posted On

2015-01-23