Mutagenetix > Incidental Mutation

Incidental Mutation 'R7843:Setx'

606423

Institutional Source

Beutler Lab

Gene Symbol

Setx

Ensembl Gene

ENSMUSG00000043535

Gene Name

senataxin

Synonyms

Als4, A930037J23Rik

MMRRC Submission

045897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29014193-29072483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29063581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 2292 (N2292K)

Ref Sequence

ENSEMBL: ENSMUSP00000051492 (fasta)

Gene Model

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

AlphaFold

A2AKX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061578
AA Change: N2292K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: N2292K

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

SMART Domains

Protein: ENSMUSP00000119176
Gene: ENSMUSG00000043535
AA Change: N165K

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	T	C	17: 36,270,135 (GRCm39)	D641G	possibly damaging	Het
Adam1b	A	T	5: 121,639,500 (GRCm39)	I515N	probably damaging	Het
Adamtsl5	A	G	10: 80,178,757 (GRCm39)	V207A	probably damaging	Het
Ampd3	A	G	7: 110,390,395 (GRCm39)	I143V	probably benign	Het
Ank3	A	T	10: 69,822,788 (GRCm39)	T486S	probably benign	Het
Bcl11a	A	G	11: 24,114,831 (GRCm39)	I725V	probably benign	Het
Blmh	A	G	11: 76,837,139 (GRCm39)	N29D	probably damaging	Het
C6	T	A	15: 4,837,886 (GRCm39)	V832D		Het
Ccdc191	T	A	16: 43,779,699 (GRCm39)	L777M	probably damaging	Het
Ccdc74a	C	G	16: 17,464,613 (GRCm39)	H45Q		Het
Cenpe	T	A	3: 134,938,720 (GRCm39)	Y517*	probably null	Het
Cep290	G	T	10: 100,352,050 (GRCm39)	R752L	possibly damaging	Het
Cers5	A	T	15: 99,670,212 (GRCm39)	W17R	unknown	Het
Chpf	T	C	1: 75,454,931 (GRCm39)		probably benign	Het
Chst5	C	A	8: 112,617,204 (GRCm39)	A139S	probably benign	Het
Cpn1	T	A	19: 43,974,597 (GRCm39)	D44V	probably benign	Het
Cstf1	T	C	2: 172,219,920 (GRCm39)	Y344H	probably damaging	Het
D7Ertd443e	A	C	7: 133,950,824 (GRCm39)	M283R	possibly damaging	Het
Dclk1	T	A	3: 55,163,298 (GRCm39)	V130D	probably damaging	Het
Dscam	C	T	16: 96,626,830 (GRCm39)	V360M	probably damaging	Het
Dvl2	A	G	11: 69,899,612 (GRCm39)	N518S	probably benign	Het
Eif2ak2	T	A	17: 79,176,203 (GRCm39)	K231N	probably benign	Het
Elovl4	T	C	9: 83,670,324 (GRCm39)	R123G	probably damaging	Het
Ern2	A	G	7: 121,772,931 (GRCm39)	V562A	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Gcc2	C	A	10: 58,103,843 (GRCm39)	Q90K	possibly damaging	Het
Gnpda1	A	T	18: 38,461,952 (GRCm39)	S282T	probably benign	Het
Gpatch1	G	T	7: 34,980,879 (GRCm39)	H880Q	unknown	Het
Haus6	T	C	4: 86,504,578 (GRCm39)	D471G	possibly damaging	Het
Hcfc1r1	G	T	17: 23,893,630 (GRCm39)	E70*	probably null	Het
Ighv1-54	A	G	12: 115,157,483 (GRCm39)	W55R	probably damaging	Het
Jam3	T	C	9: 27,017,712 (GRCm39)		probably null	Het
Klhdc7a	A	T	4: 139,694,155 (GRCm39)	V264E	possibly damaging	Het
Lrrc4c	A	T	2: 97,460,558 (GRCm39)	T395S	probably benign	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mast2	G	T	4: 116,210,208 (GRCm39)	T186K	probably damaging	Het
Meig1	T	A	2: 3,410,248 (GRCm39)	K84M	probably damaging	Het
Mep1b	G	T	18: 21,228,110 (GRCm39)	S571I	probably damaging	Het
Muc2	T	G	7: 141,281,662 (GRCm39)	V507G	probably benign	Het
Nkx2-3	C	A	19: 43,603,321 (GRCm39)	T309N	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or1ad1	A	T	11: 50,875,845 (GRCm39)	T106S	probably benign	Het
Or5b109	A	T	19: 13,211,901 (GRCm39)	N96Y	possibly damaging	Het
Or8b1c	T	C	9: 38,384,243 (GRCm39)	S67P	probably damaging	Het
Pla2r1	T	G	2: 60,277,819 (GRCm39)	T835P	possibly damaging	Het
Ppil6	C	T	10: 41,377,862 (GRCm39)	T191I	probably benign	Het
Rps6ka5	T	C	12: 100,519,408 (GRCm39)	D735G	possibly damaging	Het
Slc1a6	A	T	10: 78,632,094 (GRCm39)	I307F	probably damaging	Het
Slc5a3	T	A	16: 91,875,907 (GRCm39)	W655R	probably benign	Het
Slc9a1	T	C	4: 133,097,753 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,104,320 (GRCm39)	V128A	probably damaging	Het
Tenm3	T	A	8: 48,682,146 (GRCm39)	K2495*	probably null	Het
Tnni3k	T	A	3: 154,744,161 (GRCm39)	T64S	probably damaging	Het
Top1	T	C	2: 160,556,176 (GRCm39)	V545A	possibly damaging	Het
Trabd	A	G	15: 88,966,157 (GRCm39)	D38G	possibly damaging	Het
Tsbp1	C	T	17: 34,668,798 (GRCm39)	T176I	possibly damaging	Het
Umad1	G	A	6: 8,401,140 (GRCm39)	D70N	unknown	Het
Usp36	T	C	11: 118,176,791 (GRCm39)	E9G	probably damaging	Het
Vmn2r53	A	G	7: 12,316,026 (GRCm39)	S598P	probably damaging	Het
Vmn2r60	A	T	7: 41,844,511 (GRCm39)	T625S	probably benign	Het
Vmn2r72	G	A	7: 85,398,838 (GRCm39)	T505I	probably benign	Het
Vwce	T	A	19: 10,641,647 (GRCm39)	I791K	probably benign	Het
Wdr64	C	A	1: 175,639,668 (GRCm39)	H1046N	probably benign	Het
Zdhhc4	A	T	5: 143,306,031 (GRCm39)	D232E	probably damaging	Het
Zfp984	A	T	4: 147,842,165 (GRCm39)	F51I	probably 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
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
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'- GTCTGGGTGACATCTTTTCAGC -3'
(R):5'- GACGTTAGAGCACTTGCCTAG -3'

Sequencing Primer
(F):5'- GGTTTATTGGTTTAAACTTAGCTGAC -3'
(R):5'- GACGTTAGAGCACTTGCCTAGAATAC -3'

Posted On

2019-12-20