Mutagenetix > Incidental Mutation

Incidental Mutation 'R7188:Setx'

559402

Institutional Source

Beutler Lab

Gene Symbol

Setx

Ensembl Gene

ENSMUSG00000043535

Gene Name

senataxin

Synonyms

Als4, A930037J23Rik

MMRRC Submission

045272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7188 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29014193-29072483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29038184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1556 (D1556E)

Ref Sequence

ENSEMBL: ENSMUSP00000051492 (fasta)

Gene Model

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

AlphaFold

A2AKX3

Predicted Effect

probably benign
Transcript: ENSMUST00000061578
AA Change: D1556E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: D1556E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,554,600 (GRCm39)	Y118C	possibly damaging	Het
Abcb6	A	G	1: 75,150,781 (GRCm39)		probably null	Het
Acox2	T	A	14: 8,252,996 (GRCm38)	I236L	possibly damaging	Het
Adamts12	A	T	15: 11,336,411 (GRCm39)	K1499*	probably null	Het
Ankrd24	G	T	10: 81,472,224 (GRCm39)	E20*	probably null	Het
Arsa	A	T	15: 89,359,830 (GRCm39)	Y32*	probably null	Het
Atp9b	A	G	18: 80,961,041 (GRCm39)	S57P		Het
Atr	G	T	9: 95,744,844 (GRCm39)	E54*	probably null	Het
Bace1	A	G	9: 45,767,393 (GRCm39)	D192G	probably benign	Het
Bltp1	A	T	3: 37,004,162 (GRCm39)	T1624S	probably benign	Het
Bltp3b	T	C	10: 89,615,744 (GRCm39)	V129A	probably damaging	Het
Cacna1d	T	C	14: 29,811,790 (GRCm39)	S1309G	probably benign	Het
Cd177	G	T	7: 24,456,072 (GRCm39)	T232K	probably damaging	Het
Chil4	T	A	3: 106,111,475 (GRCm39)	D213V	probably damaging	Het
Cmya5	A	T	13: 93,182,546 (GRCm39)	I3538N	probably damaging	Het
Cyp26a1	T	A	19: 37,687,753 (GRCm39)	M287K	possibly damaging	Het
Dcaf5	T	C	12: 80,446,732 (GRCm39)	D129G	probably damaging	Het
Dnah12	A	C	14: 26,536,370 (GRCm39)	K2095N	probably benign	Het
Dnpep	G	A	1: 75,292,701 (GRCm39)	S106L	probably damaging	Het
Dock2	C	T	11: 34,189,675 (GRCm39)	E1499K	possibly damaging	Het
Dus4l	A	G	12: 31,696,714 (GRCm39)	F88L	probably damaging	Het
Fcrl2	A	C	3: 87,166,830 (GRCm39)	D54E	probably benign	Het
Fign	T	A	2: 63,809,950 (GRCm39)	H440L	possibly damaging	Het
Gabpa	A	G	16: 84,643,174 (GRCm39)	D157G	probably damaging	Het
Gapdh	T	A	6: 125,142,403 (GRCm39)		probably benign	Het
Gbp8	G	T	5: 105,164,081 (GRCm39)	R406S	probably benign	Het
Gm21775	A	G	Y: 10,553,894 (GRCm39)	R148G	possibly damaging	Het
Gm28363	G	A	1: 117,626,579 (GRCm39)	V6I	unknown	Het
Gmps	A	G	3: 63,918,982 (GRCm39)	D522G	probably damaging	Het
Gpr75	T	C	11: 30,842,687 (GRCm39)	S531P	probably damaging	Het
Hars2	G	T	18: 36,923,614 (GRCm39)	E468D	probably benign	Het
Jph4	C	A	14: 55,352,664 (GRCm39)	R23L	probably damaging	Het
Kctd12	T	A	14: 103,219,230 (GRCm39)	Y216F	probably benign	Het
L3mbtl1	G	A	2: 162,791,460 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,841,729 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,926,675 (GRCm39)	S3494T	possibly damaging	Het
Mybpc2	A	G	7: 44,155,617 (GRCm39)	S879P	probably benign	Het
Ncaph	C	T	2: 126,964,034 (GRCm39)	V304M	probably benign	Het
Noto	A	T	6: 85,405,047 (GRCm39)	I229F	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,597,731 (GRCm39)	M170V	unknown	Het
Or4c29	T	C	2: 88,740,203 (GRCm39)	D178G	probably damaging	Het
Or8k25	T	A	2: 86,243,695 (GRCm39)	K234*	probably null	Het
Pald1	A	T	10: 61,182,845 (GRCm39)	V368E	probably damaging	Het
Pde9a	T	A	17: 31,678,071 (GRCm39)	M217K	probably damaging	Het
Pira1	A	T	7: 3,741,828 (GRCm39)	V184E	probably damaging	Het
Pitpnm2	G	T	5: 124,259,366 (GRCm39)	A1323E	probably benign	Het
Ppp1r3a	T	C	6: 14,719,190 (GRCm39)	S575G	probably benign	Het
Prok1	T	C	3: 107,146,941 (GRCm39)	I9V	probably benign	Het
Ptprc	A	T	1: 137,998,918 (GRCm39)	V905D	probably damaging	Het
Rbm25	G	T	12: 83,710,772 (GRCm39)	G295V	unknown	Het
Rreb1	T	C	13: 38,100,544 (GRCm39)	M225T	possibly damaging	Het
Ryr3	T	C	2: 112,858,989 (GRCm39)	K55E	probably damaging	Het
Saxo4	T	A	19: 10,459,702 (GRCm39)	M2L	probably benign	Het
Scgb2b26	G	T	7: 33,644,379 (GRCm39)	T4K	probably damaging	Het
Sft2d1	C	T	17: 8,542,164 (GRCm39)	T136I	possibly damaging	Het
Sirt5	C	T	13: 43,525,380 (GRCm39)	A63V	possibly damaging	Het
Skor2	A	G	18: 76,947,504 (GRCm39)	T409A	possibly damaging	Het
Slc12a6	T	C	2: 112,164,760 (GRCm39)	M153T	probably benign	Het
Slc34a1	A	G	13: 24,006,348 (GRCm39)	Y458C	probably damaging	Het
Slc36a2	A	G	11: 55,053,483 (GRCm39)	V385A	possibly damaging	Het
St6galnac5	A	T	3: 152,552,131 (GRCm39)	H145Q	probably damaging	Het
Tal1	T	A	4: 114,925,610 (GRCm39)	N226K	probably damaging	Het
Tgtp2	G	C	11: 48,950,135 (GRCm39)	R146G	probably damaging	Het
Usp6nl	T	C	2: 6,445,330 (GRCm39)	S436P	probably benign	Het
Utp3	A	G	5: 88,702,621 (GRCm39)	E50G	probably benign	Het
Zfp12	A	T	5: 143,225,749 (GRCm39)	Q19L	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
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'- TCCTCAAGATATGGATCTGTGCTC -3'
(R):5'- GGTGTCACCTTCAAATTAGGCTG -3'

Sequencing Primer
(F):5'- GTGCTCACAGTTGGAAAATAAAACC -3'
(R):5'- AAATTAGGCTGCGCTCCACTTG -3'

Posted On

2019-06-26