Mutagenetix > Incidental Mutation

Incidental Mutation 'R9022:Atxn1'

686305

Institutional Source

Beutler Lab

Gene Symbol

Atxn1

Ensembl Gene

ENSMUSG00000046876

Gene Name

ataxin 1

Synonyms

Atx1, Sca1, 2900016G23Rik

MMRRC Submission

068852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9022 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45703231-46118467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45720891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 335 (R335G)

Ref Sequence

ENSEMBL: ENSMUSP00000137439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091628] [ENSMUST00000167708] [ENSMUST00000180110]

AlphaFold

P54254

Predicted Effect

probably damaging
Transcript: ENSMUST00000091628
AA Change: R335G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: R335G

Domain	Start	End	E-Value	Type
low complexity region	47	67	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
Pfam:ATXN-1_C	391	421	8.7e-15	PFAM
AXH	545	664	1.42e-82	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167708
AA Change: R335G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: R335G

Domain	Start	End	E-Value	Type
low complexity region	47	67	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
Pfam:ATXN-1_C	391	421	8.7e-15	PFAM
AXH	545	664	1.42e-82	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000180110
AA Change: R335G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: R335G

Domain	Start	End	E-Value	Type
low complexity region	47	67	N/A	INTRINSIC
low complexity region	153	168	N/A	INTRINSIC
Pfam:ATXN-1_C	402	421	3e-10	PFAM
low complexity region	537	548	N/A	INTRINSIC
Pfam:AXH	550	671	1.1e-44	PFAM

Meta Mutation Damage Score

0.1430

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (84/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased exploration, impaired spatial working memory, impaired coordination, and decreased paired-pulse facilitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	T	3: 32,769,649 (GRCm39)	A155S	probably benign	Het
Adar	A	G	3: 89,643,045 (GRCm39)	T309A	probably benign	Het
Adgrv1	A	T	13: 81,303,312 (GRCm39)	W6125R	probably damaging	Het
Adprhl1	A	G	8: 13,274,352 (GRCm39)	L802P	probably benign	Het
Ahcy	A	G	2: 154,910,779 (GRCm39)	L63P	probably damaging	Het
Ang5	G	A	14: 44,200,352 (GRCm39)	D139N	probably damaging	Het
Ankrd31	A	G	13: 96,962,655 (GRCm39)	D482G	probably benign	Het
Arhgef7	A	G	8: 11,850,469 (GRCm39)	N257D	probably benign	Het
Art3	C	A	5: 92,540,393 (GRCm39)	S45R	probably benign	Het
Bag6	T	A	17: 35,363,641 (GRCm39)	L775H	probably damaging	Het
BC004004	T	G	17: 29,501,130 (GRCm39)	H26Q	possibly damaging	Het
Camsap3	T	C	8: 3,656,575 (GRCm39)	L986S	probably benign	Het
Cbx5	T	C	15: 103,121,586 (GRCm39)	E17G	probably damaging	Het
Cc2d1b	T	C	4: 108,484,617 (GRCm39)		probably null	Het
Ccdc59	T	C	10: 105,683,007 (GRCm39)	Y231H	probably damaging	Het
Cemip2	T	C	19: 21,789,986 (GRCm39)		probably null	Het
Csnk1g1	T	C	9: 65,917,854 (GRCm39)		probably null	Het
Cybrd1	A	G	2: 70,967,904 (GRCm39)	I158M	possibly damaging	Het
Disp2	T	A	2: 118,621,179 (GRCm39)	I637N	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dnah7a	T	C	1: 53,512,116 (GRCm39)		probably null	Het
Duox2	C	A	2: 122,110,919 (GRCm39)	*1518L	probably null	Het
Dym	A	G	18: 75,258,507 (GRCm39)	I422V	probably benign	Het
Entpd8	A	C	2: 24,975,144 (GRCm39)	I492L	probably benign	Het
Fabp12	A	G	3: 10,317,333 (GRCm39)	S13P	probably damaging	Het
Fam124b	A	G	1: 80,190,705 (GRCm39)	I226T	probably damaging	Het
Fer1l6	T	C	15: 58,455,329 (GRCm39)	L763P	probably damaging	Het
Git2	A	G	5: 114,907,676 (GRCm39)		probably null	Het
Gltpd2	A	T	11: 70,410,153 (GRCm39)	Y37F	probably benign	Het
Gm44511	T	G	6: 128,797,271 (GRCm39)	Q72H	possibly damaging	Het
Grid2ip	A	T	5: 143,366,204 (GRCm39)	T565S	probably benign	Het
Grk6	T	C	13: 55,606,877 (GRCm39)	S532P	possibly damaging	Het
Haspin	A	T	11: 73,026,831 (GRCm39)	F753I	probably damaging	Het
Herpud1	T	A	8: 95,116,197 (GRCm39)	S92T	possibly damaging	Het
Heyl	C	T	4: 123,139,768 (GRCm39)	A109V	probably damaging	Het
Hivep3	T	C	4: 119,955,304 (GRCm39)	S1207P	probably benign	Het
Hk1	A	G	10: 62,105,768 (GRCm39)	S893P	probably damaging	Het
Itih1	C	A	14: 30,652,327 (GRCm39)	V789L	probably benign	Het
Kif12	T	C	4: 63,090,121 (GRCm39)	D10G	possibly damaging	Het
Kif16b	C	T	2: 142,554,537 (GRCm39)	E754K	possibly damaging	Het
Kif20a	A	G	18: 34,760,898 (GRCm39)	Q191R	probably benign	Het
Lap3	A	G	5: 45,652,548 (GRCm39)	D48G	probably benign	Het
Matn3	T	A	12: 9,002,355 (GRCm39)	V189E	probably damaging	Het
Mbp	G	A	18: 82,597,067 (GRCm39)	E143K	possibly damaging	Het
Mrgprd	A	G	7: 144,875,555 (GRCm39)	H142R	probably benign	Het
Nbea	A	T	3: 55,551,110 (GRCm39)	C2685S	possibly damaging	Het
Nhsl1	A	C	10: 18,403,409 (GRCm39)	I1381L	possibly damaging	Het
Npc1	A	G	18: 12,346,422 (GRCm39)	M258T	probably benign	Het
Or2w3	T	C	11: 58,556,550 (GRCm39)	L55P	probably damaging	Het
Or7e178	T	A	9: 20,225,268 (GRCm39)	N316I	probably damaging	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdia4	C	G	6: 47,785,149 (GRCm39)	A73P	probably benign	Het
Plxnb2	T	C	15: 89,048,471 (GRCm39)	Y646C	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pold2	T	C	11: 5,824,121 (GRCm39)	D228G	probably benign	Het
Popdc2	T	G	16: 38,194,508 (GRCm39)	C310G	probably benign	Het
Prdm10	A	G	9: 31,268,424 (GRCm39)	Y791C	probably benign	Het
Psg19	C	T	7: 18,530,762 (GRCm39)	V131I	probably benign	Het
Psg19	T	A	7: 18,531,044 (GRCm39)	T37S	probably benign	Het
Psme1	A	G	14: 55,817,271 (GRCm39)	E39G	probably damaging	Het
Rabep2	A	G	7: 126,043,719 (GRCm39)	E472G	probably damaging	Het
Rap1gap	T	C	4: 137,445,309 (GRCm39)	F297S	probably damaging	Het
Reln	A	G	5: 22,181,613 (GRCm39)	S1757P	possibly damaging	Het
Rybp	G	T	6: 100,210,074 (GRCm39)	D95E	possibly damaging	Het
Slc12a8	T	A	16: 33,466,934 (GRCm39)	D480E	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc25a24	A	T	3: 109,070,757 (GRCm39)	D372V	probably benign	Het
Slc49a4	T	C	16: 35,570,912 (GRCm39)	T131A	probably benign	Het
Stab1	T	C	14: 30,882,226 (GRCm39)	T490A	probably benign	Het
Stat5b	A	T	11: 100,681,634 (GRCm39)	I540N	probably benign	Het
Tasor2	A	G	13: 3,626,659 (GRCm39)	V1097A	probably benign	Het
Thy1	T	A	9: 43,957,947 (GRCm39)	L25Q	probably damaging	Het
Trim30a	A	G	7: 104,084,956 (GRCm39)	S85P	probably benign	Het
Use1	G	A	8: 71,819,942 (GRCm39)	V36I	probably benign	Het
Vmn1r228	T	A	17: 20,996,778 (GRCm39)	I247F	probably damaging	Het
Vmn2r13	T	A	5: 109,304,242 (GRCm39)	T730S	possibly damaging	Het
Vmn2r9	T	C	5: 108,992,923 (GRCm39)	D529G	possibly damaging	Het
Washc5	A	G	15: 59,217,233 (GRCm39)	I778T	possibly damaging	Het
Washc5	A	T	15: 59,233,069 (GRCm39)	M294K	probably damaging	Het
Wnt8a	A	T	18: 34,680,298 (GRCm39)	D221V	probably damaging	Het
Zfp616	A	G	11: 73,976,539 (GRCm39)	K936R	probably damaging	Het
Zfp618	G	A	4: 63,012,687 (GRCm39)	C133Y	probably damaging	Het
Zfp82	A	G	7: 29,761,714 (GRCm39)	S56P	probably damaging	Het
Zkscan16	T	A	4: 58,957,021 (GRCm39)	D434E	probably benign	Het

Other mutations in Atxn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Atxn1	APN	13	45,721,903 (GRCm39)	utr 5 prime	probably benign
IGL01467:Atxn1	APN	13	45,720,669 (GRCm39)	missense	probably damaging	1.00
IGL01482:Atxn1	APN	13	45,710,790 (GRCm39)	missense	probably benign	0.00
IGL01512:Atxn1	APN	13	45,720,077 (GRCm39)	missense	probably damaging	0.99
IGL01735:Atxn1	APN	13	45,720,198 (GRCm39)	missense	probably damaging	1.00
IGL02005:Atxn1	APN	13	45,721,701 (GRCm39)	missense	probably benign	0.00
IGL02333:Atxn1	APN	13	45,720,680 (GRCm39)	missense	probably damaging	1.00
Cormorant	UTSW	13	45,710,545 (GRCm39)	missense	probably damaging	1.00
pelagic	UTSW	13	45,720,288 (GRCm39)	missense	probably benign	0.05
R0136:Atxn1	UTSW	13	45,720,645 (GRCm39)	missense	probably damaging	0.99
R0180:Atxn1	UTSW	13	45,711,024 (GRCm39)	missense	probably damaging	1.00
R0299:Atxn1	UTSW	13	45,720,645 (GRCm39)	missense	probably damaging	0.99
R0540:Atxn1	UTSW	13	45,711,006 (GRCm39)	missense	probably damaging	1.00
R1220:Atxn1	UTSW	13	45,710,899 (GRCm39)	missense	probably benign	0.08
R1484:Atxn1	UTSW	13	45,711,052 (GRCm39)	nonsense	probably null
R1532:Atxn1	UTSW	13	45,720,386 (GRCm39)	missense	possibly damaging	0.95
R1885:Atxn1	UTSW	13	45,721,280 (GRCm39)	missense	probably benign	0.27
R2277:Atxn1	UTSW	13	45,710,544 (GRCm39)	missense	probably damaging	0.99
R2847:Atxn1	UTSW	13	45,720,175 (GRCm39)	missense	probably damaging	1.00
R2849:Atxn1	UTSW	13	45,720,175 (GRCm39)	missense	probably damaging	1.00
R4326:Atxn1	UTSW	13	46,119,443 (GRCm39)	unclassified	probably benign
R4626:Atxn1	UTSW	13	45,720,575 (GRCm39)	missense	probably damaging	1.00
R4768:Atxn1	UTSW	13	45,711,024 (GRCm39)	missense	probably damaging	1.00
R4944:Atxn1	UTSW	13	45,720,407 (GRCm39)	missense	probably damaging	1.00
R5011:Atxn1	UTSW	13	45,710,545 (GRCm39)	missense	probably damaging	1.00
R5061:Atxn1	UTSW	13	45,710,569 (GRCm39)	missense	probably damaging	1.00
R5293:Atxn1	UTSW	13	45,721,844 (GRCm39)	missense	probably damaging	1.00
R5299:Atxn1	UTSW	13	45,710,730 (GRCm39)	missense	probably benign	0.14
R5561:Atxn1	UTSW	13	45,720,347 (GRCm39)	missense	possibly damaging	0.49
R5667:Atxn1	UTSW	13	45,710,853 (GRCm39)	missense	probably benign	0.17
R6092:Atxn1	UTSW	13	45,720,288 (GRCm39)	missense	probably benign	0.05
R6272:Atxn1	UTSW	13	45,721,238 (GRCm39)	missense	possibly damaging	0.49
R6372:Atxn1	UTSW	13	45,710,932 (GRCm39)	missense	probably damaging	1.00
R6688:Atxn1	UTSW	13	45,721,147 (GRCm39)	missense	probably damaging	0.99
R6997:Atxn1	UTSW	13	45,721,095 (GRCm39)	missense	probably benign	0.04
R7041:Atxn1	UTSW	13	45,720,311 (GRCm39)	missense	probably damaging	1.00
R7578:Atxn1	UTSW	13	45,720,834 (GRCm39)	missense	probably benign	0.02
R7600:Atxn1	UTSW	13	45,710,536 (GRCm39)	missense	possibly damaging	0.90
R8112:Atxn1	UTSW	13	45,721,433 (GRCm39)	missense	probably benign
R8297:Atxn1	UTSW	13	45,720,505 (GRCm39)	missense	probably benign
R8411:Atxn1	UTSW	13	45,720,032 (GRCm39)	missense	probably benign	0.02
R8482:Atxn1	UTSW	13	45,721,426 (GRCm39)	missense	possibly damaging	0.75
R9269:Atxn1	UTSW	13	45,710,680 (GRCm39)	missense	probably benign	0.01
R9310:Atxn1	UTSW	13	45,721,494 (GRCm39)	missense	probably damaging	1.00
R9514:Atxn1	UTSW	13	45,721,433 (GRCm39)	missense	probably benign
R9626:Atxn1	UTSW	13	45,710,796 (GRCm39)	missense	possibly damaging	0.92
R9673:Atxn1	UTSW	13	45,710,622 (GRCm39)	missense	probably benign	0.01
R9744:Atxn1	UTSW	13	45,721,299 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGCGCATAAGACCTGTGG -3'
(R):5'- TTGTGCAATATAGTGATGCCGG -3'

Sequencing Primer
(F):5'- ATAAGACCTGTGGCCCGG -3'
(R):5'- AGGCCACTTTGTTCCTCGAGAG -3'

Posted On

2021-10-11