Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Atxn1'

209476

Institutional Source

Beutler Lab

Gene Symbol

Atxn1

Ensembl Gene

ENSMUSG00000046876

Gene Name

ataxin 1

Synonyms

Atx1, Sca1, 2900016G23Rik

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45703231-46118467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 45721280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 205 (A205D)

Ref Sequence

ENSEMBL: ENSMUSP00000129890 (fasta)

Gene Model

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

AlphaFold

P54254

Predicted Effect

probably benign
Transcript: ENSMUST00000091628
AA Change: A205D

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: A205D

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 benign
Transcript: ENSMUST00000167708
AA Change: A205D

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: A205D

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 benign
Transcript: ENSMUST00000180110
AA Change: A205D

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: A205D

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

Coding Region Coverage

1x: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102 (GRCm38)	M393I	probably benign	Het
Adcy10	A	G	1: 165,398,377 (GRCm39)	I1491M	probably benign	Het
Adcy3	T	A	12: 4,184,951 (GRCm39)	V209E	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Apobec3	A	T	15: 79,781,906 (GRCm39)	H82L	probably damaging	Het
Atg9b	A	T	5: 24,593,252 (GRCm39)	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,904,661 (GRCm39)	V506A	possibly damaging	Het
B4galnt3	T	C	6: 120,200,601 (GRCm39)	E223G	probably damaging	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Caprin2	A	T	6: 148,779,383 (GRCm39)		probably null	Het
Cblif	G	A	19: 11,729,688 (GRCm39)	A216T	probably benign	Het
Ccdc80	A	C	16: 44,917,083 (GRCm39)	D613A	probably benign	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cebpz	A	T	17: 79,239,545 (GRCm39)	D625E	probably benign	Het
Coq6	C	A	12: 84,419,238 (GRCm39)	N388K	probably damaging	Het
Cracd	A	G	5: 77,004,589 (GRCm39)	T317A	unknown	Het
D430041D05Rik	T	C	2: 104,060,800 (GRCm39)	M1365V	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dap3	A	G	3: 88,838,281 (GRCm39)	L86P	probably damaging	Het
Dpysl4	T	G	7: 138,676,723 (GRCm39)	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,854,144 (GRCm39)	Q550K	probably benign	Het
Epas1	A	G	17: 87,112,723 (GRCm39)	D107G	probably damaging	Het
Esrp2	A	G	8: 106,858,453 (GRCm39)	V636A	possibly damaging	Het
Etl4	T	A	2: 20,748,795 (GRCm39)	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,423,111 (GRCm39)	V264A	probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fer	T	A	17: 64,445,909 (GRCm39)	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,109,204 (GRCm39)	V575I	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gipc3	T	C	10: 81,177,181 (GRCm39)	I130V	probably benign	Het
Iqsec3	G	A	6: 121,405,326 (GRCm39)		probably benign	Het
Kdm5d	G	T	Y: 940,781 (GRCm39)		probably null	Het
Kl	A	G	5: 150,876,959 (GRCm39)	R260G	possibly damaging	Het
Kras	T	C	6: 145,177,843 (GRCm39)	E143G	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Ksr1	T	C	11: 78,927,347 (GRCm39)	T329A	probably damaging	Het
Marchf6	A	G	15: 31,502,952 (GRCm39)	V83A	probably benign	Het
Mettl2	T	C	11: 105,022,446 (GRCm39)	I212T	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mlh1	C	A	9: 111,087,624 (GRCm39)	S24I	probably benign	Het
Mmel1	G	A	4: 154,975,333 (GRCm39)	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Myh3	A	G	11: 66,977,453 (GRCm39)	K368E	probably benign	Het
Myo16	T	A	8: 10,372,656 (GRCm39)	N118K	probably damaging	Het
Myo5c	A	G	9: 75,157,043 (GRCm39)	S160G	probably damaging	Het
Nat1	A	T	8: 67,943,653 (GRCm39)	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nwd1	T	C	8: 73,431,622 (GRCm39)	S1207P	probably benign	Het
Or2y17	T	C	11: 49,231,662 (GRCm39)	L101P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5w22	T	C	2: 87,363,168 (GRCm39)	S264P	probably damaging	Het
Paqr8	A	T	1: 21,005,704 (GRCm39)	H286L	probably damaging	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pes1	A	G	11: 3,919,482 (GRCm39)	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Robo2	T	C	16: 73,713,033 (GRCm39)	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,265,839 (GRCm39)	V475A	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Skic3	A	T	13: 76,261,166 (GRCm39)	R112S	probably benign	Het
Skic3	A	G	13: 76,278,354 (GRCm39)	Q556R	probably benign	Het
Slc2a4	C	T	11: 69,835,833 (GRCm39)	V339I	probably benign	Het
Slc39a6	G	A	18: 24,734,539 (GRCm39)		probably null	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Snx33	T	C	9: 56,833,121 (GRCm39)	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,849,821 (GRCm39)	D769A	probably damaging	Het
Stmn2	A	T	3: 8,606,964 (GRCm39)	E28V	probably damaging	Het
Syt9	A	G	7: 107,035,736 (GRCm39)	D251G	probably damaging	Het
Tjap1	T	C	17: 46,573,347 (GRCm39)	T37A	probably damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tprg1	A	G	16: 25,231,641 (GRCm39)	T206A	probably benign	Het
Ubqlnl	A	T	7: 103,799,272 (GRCm39)	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r12	C	T	5: 109,239,942 (GRCm39)	G207E	probably damaging	Het
Xrn2	T	G	2: 146,891,281 (GRCm39)	L697*	probably null	Het
Zfp764	A	G	7: 127,004,211 (GRCm39)	F307L	probably benign	Het
Zfp804b	T	C	5: 6,820,376 (GRCm39)	R860G	probably damaging	Het
Zranb2	A	T	3: 157,248,793 (GRCm39)		probably null	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
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'- TCTCGAGGAACAAAGTGGC -3'
(R):5'- TGATCTCCCCATCAGGCAAC -3'

Sequencing Primer
(F):5'- TATATTGCACAACCACCTGGGATG -3'
(R):5'- AACCCGGTCACCAGTGCAG -3'

Posted On

2014-06-30