Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Setx'

425310

Institutional Source

Beutler Lab

Gene Symbol

Setx

Ensembl Gene

ENSMUSG00000043535

Gene Name

senataxin

Synonyms

Als4, A930037J23Rik

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29014193-29072483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29037606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1364 (R1364C)

Ref Sequence

ENSEMBL: ENSMUSP00000051492 (fasta)

Gene Model

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

AlphaFold

A2AKX3

Predicted Effect

probably benign
Transcript: ENSMUST00000061578
AA Change: R1364C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: R1364C

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,408,092 (GRCm39)	S140T	probably benign	Het
Ahnak	T	C	19: 8,981,055 (GRCm39)	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,767,697 (GRCm39)	H1205N	probably damaging	Het
Ano1	T	C	7: 144,202,356 (GRCm39)	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573 (GRCm39)	C114W	probably damaging	Het
Ascl1	C	T	10: 87,328,551 (GRCm39)	A134T	probably damaging	Het
Atl2	C	T	17: 80,160,229 (GRCm39)	E453K	probably benign	Het
Aup1	C	T	6: 83,032,005 (GRCm39)	A84V	probably damaging	Het
Btbd7	A	T	12: 102,804,044 (GRCm39)	M332K	probably damaging	Het
Cacna1d	A	G	14: 29,822,708 (GRCm39)	V1107A	probably damaging	Het
Cd33	G	A	7: 43,181,477 (GRCm39)	Q114*	probably null	Het
Cdhr18	C	A	14: 13,914,438 (GRCm38)	M1I	probably null	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Defb22	C	A	2: 152,327,826 (GRCm39)	A120S	unknown	Het
Dnah7b	A	G	1: 46,227,819 (GRCm39)	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,025,668 (GRCm39)	I549T	possibly damaging	Het
Esp15	T	A	17: 39,955,468 (GRCm39)		probably null	Het
Fbxo7	A	G	10: 85,860,518 (GRCm39)	T42A	probably benign	Het
Filip1	A	G	9: 79,725,556 (GRCm39)	I1021T	probably benign	Het
Gad1	C	A	2: 70,394,195 (GRCm39)	S7*	probably null	Het
H2ac7	T	A	13: 23,758,841 (GRCm39)		probably null	Het
H2-Q7	C	T	17: 35,658,518 (GRCm39)	T52M	probably damaging	Het
H2-T3	C	T	17: 36,497,594 (GRCm39)	G28R	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift81	A	G	5: 122,693,598 (GRCm39)	Y604H	probably damaging	Het
Igsf11	A	G	16: 38,842,785 (GRCm39)	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,742,441 (GRCm39)	A846S	probably benign	Het
Lnx2	G	A	5: 146,964,964 (GRCm39)	P420S	probably benign	Het
Lrit2	A	G	14: 36,794,216 (GRCm39)	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,637,734 (GRCm39)		probably null	Het
Mettl25b	A	T	3: 87,837,318 (GRCm39)		probably benign	Het
Mug1	T	C	6: 121,861,353 (GRCm39)	Y1325H	probably damaging	Het
Naglu	A	T	11: 100,967,550 (GRCm39)	Y500F	probably damaging	Het
Npy4r	A	G	14: 33,868,940 (GRCm39)	M116T	probably benign	Het
Nrdc	A	G	4: 108,896,959 (GRCm39)	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,801,972 (GRCm39)	S472P	probably benign	Het
Or12d2	T	A	17: 37,625,183 (GRCm39)	T31S	probably benign	Het
Or12k8	T	C	2: 36,975,731 (GRCm39)	T10A	possibly damaging	Het
Otogl	T	A	10: 107,616,794 (GRCm39)	T1828S	probably benign	Het
Pank2	C	T	2: 131,116,182 (GRCm39)	T200I	probably benign	Het
Pbrm1	A	G	14: 30,804,567 (GRCm39)	Y946C	probably damaging	Het
Pde12	A	T	14: 26,387,608 (GRCm39)	S437T	probably benign	Het
Pikfyve	A	G	1: 65,304,427 (GRCm39)	K1710E	possibly damaging	Het
Plcd3	A	G	11: 102,969,281 (GRCm39)	S229P	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 104,897,374 (GRCm39)	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873 (GRCm38)	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,321,303 (GRCm39)	S620P	probably damaging	Het
Rab33b	A	G	3: 51,400,876 (GRCm39)	T117A	probably damaging	Het
Rasal2	T	C	1: 156,985,335 (GRCm39)	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,678,370 (GRCm39)	T773A	possibly damaging	Het
Rspry1	A	G	8: 95,364,914 (GRCm39)	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,887,356 (GRCm39)		probably benign	Het
Shtn1	G	T	19: 59,026,801 (GRCm39)	L97M	probably damaging	Het
Slc35f1	T	C	10: 52,984,260 (GRCm39)	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,728,366 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,181,088 (GRCm39)	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096 (GRCm39)	A924V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Tecta	G	A	9: 42,286,359 (GRCm39)	L766F	probably damaging	Het
Tle3	C	T	9: 61,314,771 (GRCm39)		probably null	Het
Top3a	A	G	11: 60,653,316 (GRCm39)	F53L	probably damaging	Het
Trappc2b	A	T	11: 51,576,801 (GRCm39)	D32E	probably benign	Het
Trem1	T	C	17: 48,548,541 (GRCm39)	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,413,222 (GRCm39)	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 89,913,903 (GRCm39)	Y975C	probably benign	Het
Ubxn11	C	A	4: 133,850,737 (GRCm39)	D196E	probably damaging	Het
Unc80	A	G	1: 66,569,180 (GRCm39)	H945R	possibly damaging	Het
Usp15	A	G	10: 122,967,191 (GRCm39)	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339 (GRCm39)	E138K	probably damaging	Het
Wapl	A	G	14: 34,399,252 (GRCm39)	E107G	probably benign	Het
Wbp1l	T	C	19: 46,632,896 (GRCm39)		probably null	Het
Zfp184	T	G	13: 22,133,810 (GRCm39)		probably benign	Het
Zfp36	A	C	7: 28,077,293 (GRCm39)	L205R	possibly damaging	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
R2886: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
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'- TGTTGGAGTAGTTGACGCCC -3'
(R):5'- ATCACCACATCTGTTGGCACTC -3'

Sequencing Primer
(F):5'- AGTAGTTGACGCCCCCAAG -3'
(R):5'- CTCTAGATTCACACTGGTTCACAAG -3'

Posted On

2016-08-04