Mutagenetix > Incidental Mutation

Incidental Mutation 'R1484:Atxn1'

163344

Institutional Source

Beutler Lab

Gene Symbol

Atxn1

Ensembl Gene

ENSMUSG00000046876

Gene Name

ataxin 1

Synonyms

Atx1, Sca1, 2900016G23Rik

MMRRC Submission

039537-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1484 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45703231-46118467 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 45711052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 627 (E627*)

Ref Sequence

ENSEMBL: ENSMUSP00000137439 (fasta)

Gene Model

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

AlphaFold

P54254

Predicted Effect

probably null
Transcript: ENSMUST00000091628
AA Change: E619*

SMART Domains

Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: E619*

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 null
Transcript: ENSMUST00000167708
AA Change: E619*

SMART Domains

Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: E619*

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 null
Transcript: ENSMUST00000180110
AA Change: E627*

SMART Domains

Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: E627*

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

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (85/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930584F24Rik	A	T	5: 26,684,776 (GRCm39)		noncoding transcript	Het
Acvr1	A	T	2: 58,369,901 (GRCm39)	V36E	probably damaging	Het
Aldh4a1	A	G	4: 139,370,758 (GRCm39)	I414V	probably benign	Het
Alox5	C	T	6: 116,431,128 (GRCm39)	C100Y	probably damaging	Het
Ano5	T	A	7: 51,216,068 (GRCm39)	D348E	probably damaging	Het
Arhgap30	G	A	1: 171,230,839 (GRCm39)	V199M	probably damaging	Het
Arl13b	T	A	16: 62,626,999 (GRCm39)	Q234L	probably benign	Het
Bend3	T	C	10: 43,386,197 (GRCm39)	F197L	probably benign	Het
Brca1	A	T	11: 101,420,638 (GRCm39)	V190E	possibly damaging	Het
Brpf1	T	C	6: 113,292,096 (GRCm39)	W381R	probably damaging	Het
Brwd1	A	C	16: 95,829,491 (GRCm39)		probably null	Het
C1s2	T	C	6: 124,602,604 (GRCm39)	I530V	possibly damaging	Het
C2cd3	C	T	7: 100,089,397 (GRCm39)	R1638W	probably damaging	Het
Capns1	T	A	7: 29,893,511 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cep126	G	A	9: 8,100,554 (GRCm39)	T660I	possibly damaging	Het
Cep295	A	C	9: 15,246,080 (GRCm39)	I744R	probably damaging	Het
Chd3	T	C	11: 69,250,725 (GRCm39)	E668G	probably benign	Het
Chek2	A	G	5: 110,996,553 (GRCm39)	T172A	probably damaging	Het
Col6a4	A	G	9: 105,890,501 (GRCm39)		probably null	Het
Coq3	G	A	4: 21,900,291 (GRCm39)	V173I	probably benign	Het
Cyp4x1	A	T	4: 114,970,098 (GRCm39)	I343N	probably damaging	Het
Dnah7b	T	A	1: 46,176,703 (GRCm39)	D774E	probably benign	Het
Dnai3	T	C	3: 145,802,996 (GRCm39)	D65G	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Esrra	T	C	19: 6,890,197 (GRCm39)	Y209C	probably damaging	Het
Gpr149	A	T	3: 62,502,592 (GRCm39)	D421E	probably benign	Het
Gpr15	T	C	16: 58,538,937 (GRCm39)	N51D	probably damaging	Het
Gpr156	T	C	16: 37,812,558 (GRCm39)	V298A	probably damaging	Het
Hmcn2	G	A	2: 31,236,507 (GRCm39)	G350D	probably damaging	Het
Ifih1	A	T	2: 62,440,902 (GRCm39)	N421K	probably benign	Het
Ilvbl	C	A	10: 78,412,564 (GRCm39)	T95K	probably damaging	Het
Itgb4	T	A	11: 115,890,625 (GRCm39)	D1104E	probably benign	Het
Katnip	C	A	7: 125,415,743 (GRCm39)		probably benign	Het
Lipf	A	T	19: 33,942,180 (GRCm39)	M37L	probably benign	Het
Lyst	T	A	13: 13,852,775 (GRCm39)	N2258K	probably benign	Het
Moxd1	A	G	10: 24,099,758 (GRCm39)	Y86C	probably damaging	Het
Muc5ac	T	C	7: 141,367,629 (GRCm39)		probably null	Het
Myo16	G	A	8: 10,610,145 (GRCm39)	R1162H	probably damaging	Het
Myo5c	A	T	9: 75,208,092 (GRCm39)	N1609Y	probably damaging	Het
Nbeal1	T	C	1: 60,240,098 (GRCm39)	F155L	probably damaging	Het
Nek4	A	T	14: 30,704,290 (GRCm39)	M602L	possibly damaging	Het
Nek9	A	G	12: 85,348,622 (GRCm39)	S971P	probably damaging	Het
Nfya	A	T	17: 48,700,570 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,547 (GRCm39)	N442I	probably damaging	Het
Nup42	A	C	5: 24,383,075 (GRCm39)	K200N	probably benign	Het
Or1e26	T	A	11: 73,480,187 (GRCm39)	I126L	possibly damaging	Het
Or4c111	G	A	2: 88,843,713 (GRCm39)	R232*	probably null	Het
Or7g32	G	A	9: 19,389,423 (GRCm39)	T38I	probably damaging	Het
Pcdh15	T	A	10: 74,126,833 (GRCm39)	I304N	probably damaging	Het
Pigo	G	C	4: 43,024,779 (GRCm39)	P107A	probably damaging	Het
Plce1	C	T	19: 38,693,783 (GRCm39)	Q769*	probably null	Het
Plin2	C	T	4: 86,575,481 (GRCm39)	R356H	probably benign	Het
Ppp1r9a	G	T	6: 5,113,712 (GRCm39)	E739*	probably null	Het
Ppp3cc	G	T	14: 70,478,397 (GRCm39)	N268K	probably damaging	Het
Prkag3	T	A	1: 74,779,919 (GRCm39)	D472V	probably damaging	Het
Ptch2	A	T	4: 116,968,046 (GRCm39)	D846V	probably damaging	Het
Rhob	A	T	12: 8,549,388 (GRCm39)	M82K	probably damaging	Het
Rps6kc1	T	A	1: 190,531,672 (GRCm39)	R777W	possibly damaging	Het
Sap130	T	A	18: 31,844,380 (GRCm39)	V850E	probably damaging	Het
Sema3a	T	G	5: 13,523,407 (GRCm39)	N125K	probably damaging	Het
Sema5a	A	G	15: 32,460,431 (GRCm39)	D64G	probably damaging	Het
Sgo2b	T	A	8: 64,384,507 (GRCm39)	D163V	possibly damaging	Het
Slc15a1	A	T	14: 121,728,651 (GRCm39)	Y31*	probably null	Het
Smchd1	A	T	17: 71,685,252 (GRCm39)	M1392K	probably benign	Het
Sobp	T	A	10: 43,036,827 (GRCm39)	N37I	probably damaging	Het
Spock3	G	T	8: 63,673,739 (GRCm39)	C142F	probably damaging	Het
Stx6	A	C	1: 155,053,650 (GRCm39)	S86R	probably benign	Het
Sult2a4	C	A	7: 13,643,726 (GRCm39)	M280I	probably benign	Het
Synm	A	T	7: 67,386,080 (GRCm39)	D527E	probably damaging	Het
Tax1bp1	C	T	6: 52,710,305 (GRCm39)	R195W	probably damaging	Het
Themis2	A	T	4: 132,519,796 (GRCm39)	N76K	possibly damaging	Het
Tmem8b	A	G	4: 43,690,234 (GRCm39)	T890A	probably benign	Het
Traf7	T	A	17: 24,730,785 (GRCm39)	H366L	possibly damaging	Het
Trim30c	A	T	7: 104,032,459 (GRCm39)	V289D	probably benign	Het
Tsr1	T	A	11: 74,792,914 (GRCm39)	D407E	probably damaging	Het
Ubap2	G	T	4: 41,235,593 (GRCm39)	A33E	probably damaging	Het
Unc13d	C	A	11: 115,964,701 (GRCm39)	R255L	possibly damaging	Het
Ush2a	G	T	1: 188,542,534 (GRCm39)	G3367*	probably null	Het
Vmn1r229	T	C	17: 21,034,791 (GRCm39)	L12P	probably damaging	Het
Vmn2r27	C	A	6: 124,177,474 (GRCm39)	G510V	probably damaging	Het
Vps4b	T	C	1: 106,707,712 (GRCm39)	E257G	probably damaging	Het
Vps72	T	C	3: 95,026,462 (GRCm39)	S136P	probably damaging	Het
Wdr36	T	C	18: 32,976,938 (GRCm39)	I181T	possibly damaging	Het
Wfikkn1	C	T	17: 26,096,765 (GRCm39)	A520T	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
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'- CCTTGAAGAACTCACACCCAAGGTTG -3'

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

Posted On

2014-03-28