Mutagenetix > Incidental Mutation

Incidental Mutation 'R0540:Atxn1'

49854

Institutional Source

Beutler Lab

Gene Symbol

Atxn1

Ensembl Gene

ENSMUSG00000046876

Gene Name

ataxin 1

Synonyms

Atx1, Sca1, 2900016G23Rik

MMRRC Submission

038732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0540 (G1)

Quality Score

192

Status

Not validated

Chromosome

Chromosomal Location

45703231-46118467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45711006 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 642 (S642L)

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: S634L

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

SMART Domains

Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: S634L

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: S634L

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

SMART Domains

Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: S634L

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: S642L

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

SMART Domains

Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: S642L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222227

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

Validation Efficiency

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,926,627 (GRCm39)	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,724,852 (GRCm39)	Y775*	probably null	Het
Ankhd1	G	T	18: 36,773,333 (GRCm39)	V59F	probably damaging	Het
Ano4	T	A	10: 88,859,806 (GRCm39)	I395F	probably benign	Het
Apcdd1	A	G	18: 63,084,967 (GRCm39)	N388S	possibly damaging	Het
Arl9	A	G	5: 77,155,118 (GRCm39)	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,798,691 (GRCm39)	H706L	probably benign	Het
Arrb1	T	C	7: 99,237,403 (GRCm39)		probably null	Het
Bmp8a	A	G	4: 123,209,723 (GRCm39)	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,125,736 (GRCm39)	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193 (GRCm39)	I343T	probably benign	Het
Capn2	A	T	1: 182,319,749 (GRCm39)	Y146*	probably null	Het
Ccdc42	C	T	11: 68,488,536 (GRCm39)	Q312*	probably null	Het
Cd209e	T	C	8: 3,901,265 (GRCm39)	K130E	probably benign	Het
Chd3	T	C	11: 69,235,184 (GRCm39)	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,401,815 (GRCm39)	N161S	probably damaging	Het
Clp1	C	T	2: 84,555,935 (GRCm39)	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,510,682 (GRCm39)	E135*	probably null	Het
Csf2rb2	T	C	15: 78,172,108 (GRCm39)	Y325C	probably benign	Het
Cspg5	T	C	9: 110,076,460 (GRCm39)		probably null	Het
Ctnna2	T	C	6: 76,879,413 (GRCm39)	T824A	probably benign	Het
Cyp2b13	G	A	7: 25,781,136 (GRCm39)	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,063,790 (GRCm39)	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,385,326 (GRCm39)	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,360,426 (GRCm39)	Y43*	probably null	Het
Dlg1	G	A	16: 31,656,992 (GRCm39)	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,046,246 (GRCm39)	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,369,995 (GRCm39)	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480 (GRCm39)	S3152A	probably benign	Het
Edn3	C	A	2: 174,602,767 (GRCm39)	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,463,073 (GRCm39)		probably null	Het
Emb	G	A	13: 117,369,286 (GRCm39)	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,410,386 (GRCm39)	C397S	probably damaging	Het
Exo5	A	G	4: 120,779,178 (GRCm39)	V229A	probably damaging	Het
Fga	G	A	3: 82,935,869 (GRCm39)	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,864,333 (GRCm39)	F34L	probably benign	Het
Fsd2	T	A	7: 81,194,765 (GRCm39)	D466V	probably damaging	Het
Gcn1	T	C	5: 115,727,015 (GRCm39)	V624A	probably benign	Het
Git2	A	G	5: 114,886,335 (GRCm39)	F336L	probably damaging	Het
Greb1	T	A	12: 16,732,194 (GRCm39)	Y1589F	probably damaging	Het
H2-K2	G	T	17: 34,218,474 (GRCm39)	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926 (GRCm39)	V52A	possibly damaging	Het
Kifc1	G	A	17: 34,105,621 (GRCm39)	T62I	probably damaging	Het
Klhl6	C	A	16: 19,775,764 (GRCm39)	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,589,373 (GRCm39)	N190K	probably damaging	Het
Lce6a	A	T	3: 92,527,635 (GRCm39)	H57Q	probably benign	Het
Lipo3	A	T	19: 33,536,967 (GRCm39)	I251K	possibly damaging	Het
Lnpep	A	T	17: 17,758,816 (GRCm39)	F843I	probably damaging	Het
Lrrc45	C	T	11: 120,605,988 (GRCm39)	R99*	probably null	Het
Lrrtm1	C	A	6: 77,221,611 (GRCm39)	A356E	probably damaging	Het
Map3k1	A	C	13: 111,900,044 (GRCm39)	H493Q	probably benign	Het
Mcm4	A	T	16: 15,449,979 (GRCm39)		probably null	Het
Mllt3	G	A	4: 87,759,281 (GRCm39)	P256S	possibly damaging	Het
Mrtfb	A	G	16: 13,199,465 (GRCm39)	E106G	probably damaging	Het
Myo7a	T	A	7: 97,721,153 (GRCm39)	T1271S	probably damaging	Het
Ncan	C	A	8: 70,567,809 (GRCm39)	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 79,253,885 (GRCm39)	D361G	probably benign	Het
Neurod6	C	T	6: 55,656,572 (GRCm39)	A22T	probably benign	Het
Nexn	T	A	3: 151,953,879 (GRCm39)	K192*	probably null	Het
Nipsnap2	A	T	5: 129,831,909 (GRCm39)	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,523,492 (GRCm39)	K663E	probably benign	Het
Nprl2	A	T	9: 107,422,497 (GRCm39)	Y329F	possibly damaging	Het
Nr2f2	C	A	7: 70,004,460 (GRCm39)	R264L	probably damaging	Het
Nsun7	A	T	5: 66,440,977 (GRCm39)	K366I	probably damaging	Het
Nup35	T	A	2: 80,472,984 (GRCm39)	M19K	probably benign	Het
Or10a4	T	A	7: 106,696,933 (GRCm39)	I87K	probably benign	Het
Or11i1	A	T	3: 106,729,829 (GRCm39)	F15L	probably damaging	Het
Or1ad6	C	A	11: 50,860,670 (GRCm39)	A275D	possibly damaging	Het
Or2v1	C	G	11: 49,025,549 (GRCm39)	H177D	probably damaging	Het
Or2w2	T	A	13: 21,757,948 (GRCm39)	Y226F	probably benign	Het
Or5af1	T	A	11: 58,722,798 (GRCm39)	S273T	probably damaging	Het
Or5p51	A	G	7: 107,444,776 (GRCm39)	S55P	probably damaging	Het
Patl2	T	C	2: 121,957,150 (GRCm39)	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,278,942 (GRCm39)	I641V	probably benign	Het
Peli3	T	C	19: 4,991,939 (GRCm39)	M1V	probably null	Het
Pex16	T	A	2: 92,205,982 (GRCm39)	L25*	probably null	Het
Plekhn1	C	A	4: 156,307,204 (GRCm39)	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,972,765 (GRCm39)	I469N	probably damaging	Het
Prdx6	A	C	1: 161,078,673 (GRCm39)	L5W	probably damaging	Het
Prrc1	G	A	18: 57,507,622 (GRCm39)	V259I	possibly damaging	Het
Prss38	T	C	11: 59,266,369 (GRCm39)	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,106,578 (GRCm39)	Y151*	probably null	Het
Ripk4	A	C	16: 97,545,375 (GRCm39)	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,006,962 (GRCm39)	D249N	probably benign	Het
Skint10	A	T	4: 112,630,224 (GRCm39)		probably null	Het
Smg7	A	T	1: 152,731,713 (GRCm39)	N349K	probably benign	Het
Sohlh2	C	A	3: 55,115,104 (GRCm39)	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,591,179 (GRCm39)	T210A	possibly damaging	Het
Synpo2l	A	T	14: 20,710,748 (GRCm39)	M624K	probably damaging	Het
Thsd7a	T	A	6: 12,331,541 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,938,692 (GRCm39)	V49E	probably damaging	Het
Tnik	A	C	3: 28,704,308 (GRCm39)	K989T	probably damaging	Het
Tnxb	T	A	17: 34,890,892 (GRCm39)	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,726,103 (GRCm39)		probably null	Het
Tsc2	A	T	17: 24,840,686 (GRCm39)	V391E	probably damaging	Het
Ttll5	T	C	12: 85,980,450 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,935,360 (GRCm39)	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,887,096 (GRCm39)	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,082,527 (GRCm39)	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,215,247 (GRCm39)	F98I	probably damaging	Het
Zfp62	C	A	11: 49,106,227 (GRCm39)	T106K	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
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
R9022:Atxn1	UTSW	13	45,720,891 (GRCm39)	missense	probably damaging	1.00
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'- AGTTCGCCATTCTCAGAGAGCACC -3'
(R):5'- AGCTCCAGCCTCTGTACATACACG -3'

Sequencing Primer
(F):5'- ATCTGTGTCTGCTGCCAG -3'
(R):5'- AGCCTCTGTACATACACGGTTTTC -3'

Posted On

2013-06-12