Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Setx'

448949

Institutional Source

Beutler Lab

Gene Symbol

Setx

Ensembl Gene

ENSMUSG00000043535

Gene Name

senataxin

Synonyms

Als4, A930037J23Rik

MMRRC Submission

042570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29014193-29072483 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29054562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2158 (E2158G)

Ref Sequence

ENSEMBL: ENSMUSP00000051492 (fasta)

Gene Model

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

AlphaFold

A2AKX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061578
AA Change: E2158G

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

SMART Domains

Protein: ENSMUSP00000051492
Gene: ENSMUSG00000043535
AA Change: E2158G

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

unknown
Transcript: ENSMUST00000145422
AA Change: E31G

SMART Domains

Protein: ENSMUSP00000119176
Gene: ENSMUSG00000043535
AA Change: E31G

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

Meta Mutation Damage Score

0.9552

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	C	3: 59,840,161 (GRCm39)	T78P	probably damaging	Het
Abcc8	T	C	7: 45,800,291 (GRCm39)	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,068,927 (GRCm39)	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,234,944 (GRCm39)		probably benign	Het
Ccni	A	T	5: 93,335,553 (GRCm39)	L195Q	possibly damaging	Het
Cdkl4	C	A	17: 80,832,764 (GRCm39)	G327*	probably null	Het
Cdsn	T	C	17: 35,866,326 (GRCm39)	V285A	possibly damaging	Het
Cfap20dc	A	G	14: 8,518,736 (GRCm38)	V240A	probably benign	Het
Chtf18	T	C	17: 25,943,540 (GRCm39)	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,732,984 (GRCm39)	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,949,752 (GRCm39)	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,525 (GRCm39)	Q1055H	possibly damaging	Het
Cyld	T	G	8: 89,433,860 (GRCm39)	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Disp3	C	T	4: 148,328,673 (GRCm39)	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,538,233 (GRCm39)	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Ergic3	T	C	2: 155,859,638 (GRCm39)		probably null	Het
Fkbp14	A	G	6: 54,569,943 (GRCm39)	I29T	probably benign	Het
Gm4845	T	A	1: 141,184,623 (GRCm39)		noncoding transcript	Het
Gm7135	A	T	1: 97,281,801 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,481 (GRCm39)	I57F	probably damaging	Het
Hectd1	A	G	12: 51,809,280 (GRCm39)	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,283,037 (GRCm39)	D1971G	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Itih4	T	A	14: 30,614,244 (GRCm39)	I398N	probably damaging	Het
Kansl1	A	T	11: 104,226,390 (GRCm39)	S922R	probably damaging	Het
Krt27	G	A	11: 99,237,722 (GRCm39)	Q339*	probably null	Het
Lama1	C	A	17: 68,045,829 (GRCm39)	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,806,488 (GRCm39)	C60*	probably null	Het
Med16	A	G	10: 79,738,839 (GRCm39)	S316P	possibly damaging	Het
Mia3	T	C	1: 183,111,970 (GRCm39)	N529S	probably benign	Het
Msi2	T	C	11: 88,285,481 (GRCm39)	K188E	probably damaging	Het
Myh7	T	C	14: 55,209,128 (GRCm39)	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,167,216 (GRCm39)	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167 (GRCm39)	R487H	probably benign	Het
Or4c117	T	C	2: 88,955,682 (GRCm39)	Y131C	probably damaging	Het
Or4k41	T	C	2: 111,280,028 (GRCm39)	I181T	probably benign	Het
Or52h1	A	T	7: 103,828,736 (GRCm39)	V293D	probably damaging	Het
Or5d18	T	C	2: 87,865,005 (GRCm39)	I159M	probably benign	Het
Or6c205	T	C	10: 129,087,141 (GRCm39)	I246T	probably damaging	Het
Otog	T	C	7: 45,937,415 (GRCm39)	V1708A	probably benign	Het
Ptprv	A	G	1: 135,046,586 (GRCm39)		noncoding transcript	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,510,497 (GRCm39)	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,277,428 (GRCm39)	D264G	possibly damaging	Het
Reln	A	G	5: 22,165,424 (GRCm39)	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,055,022 (GRCm39)	Y593*	probably null	Het
Ror2	C	T	13: 53,285,954 (GRCm39)	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,817,678 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,082,209 (GRCm39)		probably null	Het
Runx3	A	G	4: 134,898,446 (GRCm39)	T206A	probably benign	Het
Siglece	C	T	7: 43,308,396 (GRCm39)		probably null	Het
Slco1a8	T	C	6: 141,926,599 (GRCm39)	S576G	probably benign	Het
Snx1	A	T	9: 66,012,187 (GRCm39)	L96*	probably null	Het
Srrm1	A	G	4: 135,074,031 (GRCm39)		probably benign	Het
Stk39	A	T	2: 68,051,336 (GRCm39)		probably benign	Het
Sun3	G	A	11: 8,988,311 (GRCm39)	R4*	probably null	Het
Svil	A	G	18: 5,054,025 (GRCm39)	K347E	possibly damaging	Het
Sybu	T	A	15: 44,541,063 (GRCm39)	E333V	probably damaging	Het
Tet2	A	G	3: 133,192,520 (GRCm39)		probably benign	Het
Tfip11	G	T	5: 112,483,613 (GRCm39)		probably benign	Het
Tmc1	A	C	19: 20,884,319 (GRCm39)	D40E	probably damaging	Het
Twf2	G	T	9: 106,089,539 (GRCm39)	G121W	probably damaging	Het
Vpreb3	A	G	10: 75,775,636 (GRCm39)	V50A	probably damaging	Het
Vps8	T	A	16: 21,285,219 (GRCm39)	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,266,565 (GRCm39)	Y861F	probably damaging	Het
Zfp608	T	G	18: 55,022,962 (GRCm39)	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,186,504 (GRCm39)	S845A	possibly damaging	Het
Zscan4d	A	T	7: 10,899,274 (GRCm39)	M1K	probably null	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
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'- TCCAGGATGGATTTATGCAGAGG -3'
(R):5'- CATGTGCACATCAGCTAAAGG -3'

Sequencing Primer
(F):5'- AAATAGGACTGTTGCAGGATTTG -3'
(R):5'- CTGGATGTTCACTCTCCA -3'

Posted On

2016-12-16