Mutagenetix > Incidental Mutation

Incidental Mutation 'R9310:Atxn1'

705501

Institutional Source

Beutler Lab

Gene Symbol

Atxn1

Ensembl Gene

ENSMUSG00000046876

Gene Name

ataxin 1

Synonyms

2900016G23Rik, Atx1, Sca1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45549755-45965008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45568018 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 134 (Y134D)

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: Y134D

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

SMART Domains

Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: Y134D

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: Y134D

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

SMART Domains

Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: Y134D

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: Y134D

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

SMART Domains

Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: Y134D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	T	C	8: 116,972,120 (GRCm38)	I83V	possibly damaging	Het
Abcf1	G	A	17: 35,961,729 (GRCm38)	A288V	probably null	Het
Acer1	A	T	17: 56,955,598 (GRCm38)	V184D	probably damaging	Het
Apoh	T	C	11: 108,407,481 (GRCm38)		probably null	Het
Arid1a	T	C	4: 133,686,314 (GRCm38)	Y959C	unknown	Het
Asb3	A	T	11: 31,028,962 (GRCm38)	H84L	probably benign	Het
Btbd1	T	C	7: 81,829,237 (GRCm38)	Y52C	probably damaging	Het
Cabp2	A	G	19: 4,086,464 (GRCm38)	D170G	probably damaging	Het
Cacna1a	C	A	8: 84,536,417 (GRCm38)	A407E	probably damaging	Het
Cacna2d4	T	A	6: 119,271,953 (GRCm38)		probably null	Het
Cc2d2a	T	C	5: 43,695,146 (GRCm38)	F404S	probably damaging	Het
Cdh20	T	C	1: 104,947,336 (GRCm38)	M281T	probably damaging	Het
Cfap54	A	T	10: 92,962,315 (GRCm38)	M1694K	unknown	Het
Chd6	G	T	2: 161,039,261 (GRCm38)	T261K	probably damaging	Het
Cnksr1	T	C	4: 134,229,019 (GRCm38)	S585G	probably damaging	Het
Cntnap2	A	T	6: 46,001,347 (GRCm38)	Y312F	probably damaging	Het
Coa7	T	A	4: 108,338,313 (GRCm38)	Y146*	probably null	Het
Col28a1	T	C	6: 8,175,414 (GRCm38)	K145E	unknown	Het
Coq8b	T	A	7: 27,242,061 (GRCm38)	I221N	probably damaging	Het
Cpd	A	T	11: 76,814,781 (GRCm38)	L375*	probably null	Het
Dnah5	T	C	15: 28,448,433 (GRCm38)	F4214S	probably damaging	Het
Dnai3	C	T	3: 146,097,140 (GRCm38)		probably null	Het
Dock2	A	G	11: 34,294,139 (GRCm38)	F1067S	possibly damaging	Het
Dpp6	G	A	5: 27,631,441 (GRCm38)	A310T	probably damaging	Het
Dpp6	C	A	5: 27,725,644 (GRCm38)	L825I	probably benign	Het
Efcab5	A	G	11: 77,113,705 (GRCm38)	V929A	probably benign	Het
Ephx3	C	G	17: 32,189,316 (GRCm38)	D45H	probably benign	Het
Espl1	G	A	15: 102,296,850 (GRCm38)		probably null	Het
Firrm	A	G	1: 163,964,520 (GRCm38)	C610R	probably damaging	Het
Gm4847	T	C	1: 166,632,712 (GRCm38)	R402G	probably benign	Het
Grid1	T	C	14: 35,026,805 (GRCm38)	L194S	probably damaging	Het
Heatr1	A	T	13: 12,438,610 (GRCm38)	H2122L	probably benign	Het
Il17b	T	A	18: 61,692,263 (GRCm38)	C123*	probably null	Het
Il17rc	T	C	6: 113,474,249 (GRCm38)	L181P	probably damaging	Het
Inpp5e	T	A	2: 26,397,928 (GRCm38)	I619L	probably benign	Het
Itgax	C	A	7: 128,142,260 (GRCm38)	Y814*	probably null	Het
Marcks	C	T	10: 37,136,491 (GRCm38)	E183K	unknown	Het
Mefv	T	C	16: 3,715,388 (GRCm38)	T340A	probably benign	Het
Mical2	A	G	7: 112,351,713 (GRCm38)	K958R	probably benign	Het
Mrtfb	T	A	16: 13,401,090 (GRCm38)	D533E	probably benign	Het
Mtor	T	A	4: 148,469,377 (GRCm38)	L811Q	probably benign	Het
Myh4	A	G	11: 67,254,744 (GRCm38)	Y1351C	probably damaging	Het
Neb	T	C	2: 52,263,696 (GRCm38)	M2406V	probably benign	Het
Nebl	T	C	2: 17,348,867 (GRCm38)	T214A	probably benign	Het
Nlrx1	A	T	9: 44,253,408 (GRCm38)	I913N	probably damaging	Het
Npr2	G	T	4: 43,632,404 (GRCm38)	A74S	probably benign	Het
Or4c115	T	A	2: 89,097,913 (GRCm38)	S5C	probably damaging	Het
Or6b6	C	A	7: 106,971,471 (GRCm38)	C291F	probably damaging	Het
Or6c88	T	A	10: 129,570,818 (GRCm38)	N54K	probably benign	Het
Pard3b	G	T	1: 62,166,369 (GRCm38)	V441F	probably damaging	Het
Pcsk1	G	A	13: 75,090,072 (GRCm38)	R4K	probably benign	Het
Pisd	G	T	5: 32,737,440 (GRCm38)	N337K	possibly damaging	Het
Pml	T	C	9: 58,249,662 (GRCm38)	K10R	probably benign	Het
Prkci	T	C	3: 31,029,515 (GRCm38)	W132R	probably damaging	Het
Prrc2a	A	T	17: 35,155,999 (GRCm38)	M1225K	probably benign	Het
Prss23	T	C	7: 89,509,934 (GRCm38)	D309G	probably damaging	Het
Pxdn	G	A	12: 30,002,052 (GRCm38)	G743S	probably damaging	Het
Rab29	A	T	1: 131,872,122 (GRCm38)	E145V	probably damaging	Het
Rasef	C	T	4: 73,735,719 (GRCm38)		probably null	Het
Rcbtb1	T	G	14: 59,235,250 (GRCm38)	I496S	probably benign	Het
Rcor1	T	C	12: 111,099,959 (GRCm38)	Y228H		Het
Reep5	C	T	18: 34,357,169 (GRCm38)	V92I	probably damaging	Het
Rfx3	T	C	19: 27,849,929 (GRCm38)	S86G	probably benign	Het
Rptn	T	A	3: 93,397,077 (GRCm38)	D572E	probably benign	Het
Rsl1	A	T	13: 67,176,446 (GRCm38)		probably null	Het
Sbf2	T	C	7: 110,315,085 (GRCm38)	E1630G	possibly damaging	Het
Sele	G	A	1: 164,049,406 (GRCm38)	V84I	probably benign	Het
Serpina1b	T	C	12: 103,732,497 (GRCm38)	D31G	probably benign	Het
Serpina3c	T	C	12: 104,149,554 (GRCm38)	I244V	probably benign	Het
Serpinb6e	A	G	13: 33,833,221 (GRCm38)	V272A	probably benign	Het
Serpinb9b	A	G	13: 33,035,540 (GRCm38)	D150G	probably benign	Het
Sgpp1	T	C	12: 75,722,600 (GRCm38)	T265A	probably benign	Het
Slc9a1	T	A	4: 133,416,370 (GRCm38)	M389K	probably damaging	Het
Slco3a1	A	T	7: 74,554,488 (GRCm38)	C35S	probably damaging	Het
Slco6d1	T	A	1: 98,499,894 (GRCm38)	V650E	possibly damaging	Het
Slit2	T	C	5: 48,192,226 (GRCm38)	V274A	possibly damaging	Het
Snd1	A	G	6: 28,795,937 (GRCm38)	E593G	probably null	Het
Spata2l	C	T	8: 123,234,134 (GRCm38)	V139M	probably benign	Het
Suco	T	C	1: 161,856,858 (GRCm38)	K231R	probably damaging	Het
Tenm3	C	A	8: 48,555,900 (GRCm38)		probably benign	Het
Tg	T	C	15: 66,827,269 (GRCm38)	S2415P	possibly damaging	Het
Traf6	C	A	2: 101,696,727 (GRCm38)	A274D	possibly damaging	Het
Usp14	A	G	18: 9,996,239 (GRCm38)	I447T	possibly damaging	Het
Usp32	G	A	11: 85,051,202 (GRCm38)	L355F	probably benign	Het
Vcpip1	T	C	1: 9,747,702 (GRCm38)	N152S	possibly damaging	Het
Vgf	A	G	5: 137,032,256 (GRCm38)	Q424R	probably benign	Het
Vmn2r84	A	T	10: 130,392,124 (GRCm38)	M81K	possibly damaging	Het
Washc5	G	A	15: 59,346,218 (GRCm38)	A732V	possibly damaging	Het
Xrcc3	T	G	12: 111,805,051 (GRCm38)	D213A	probably damaging	Het
Zeb2	T	C	2: 44,996,976 (GRCm38)	T690A	probably benign	Het
Zfat	G	A	15: 68,084,401 (GRCm38)	S1212L	probably damaging	Het
Zfp623	C	T	15: 75,948,100 (GRCm38)	L302F	probably damaging	Het
Zfp799	A	C	17: 32,820,759 (GRCm38)	C178G	possibly damaging	Het
Zfy1	T	C	Y: 727,634 (GRCm38)	E348G	unknown	Het
Zhx3	A	G	2: 160,779,473 (GRCm38)	W925R	possibly damaging	Het

Other mutations in Atxn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Atxn1	APN	13	45,568,427 (GRCm38)	utr 5 prime	probably benign
IGL01467:Atxn1	APN	13	45,567,193 (GRCm38)	missense	probably damaging	1.00
IGL01482:Atxn1	APN	13	45,557,314 (GRCm38)	missense	probably benign	0.00
IGL01512:Atxn1	APN	13	45,566,601 (GRCm38)	missense	probably damaging	0.99
IGL01735:Atxn1	APN	13	45,566,722 (GRCm38)	missense	probably damaging	1.00
IGL02005:Atxn1	APN	13	45,568,225 (GRCm38)	missense	probably benign	0.00
IGL02333:Atxn1	APN	13	45,567,204 (GRCm38)	missense	probably damaging	1.00
Cormorant	UTSW	13	45,557,069 (GRCm38)	missense	probably damaging	1.00
pelagic	UTSW	13	45,566,812 (GRCm38)	missense	probably benign	0.05
R0136:Atxn1	UTSW	13	45,567,169 (GRCm38)	missense	probably damaging	0.99
R0180:Atxn1	UTSW	13	45,557,548 (GRCm38)	missense	probably damaging	1.00
R0299:Atxn1	UTSW	13	45,567,169 (GRCm38)	missense	probably damaging	0.99
R0540:Atxn1	UTSW	13	45,557,530 (GRCm38)	missense	probably damaging	1.00
R1220:Atxn1	UTSW	13	45,557,423 (GRCm38)	missense	probably benign	0.08
R1484:Atxn1	UTSW	13	45,557,576 (GRCm38)	nonsense	probably null
R1532:Atxn1	UTSW	13	45,566,910 (GRCm38)	missense	possibly damaging	0.95
R1885:Atxn1	UTSW	13	45,567,804 (GRCm38)	missense	probably benign	0.27
R2277:Atxn1	UTSW	13	45,557,068 (GRCm38)	missense	probably damaging	0.99
R2847:Atxn1	UTSW	13	45,566,699 (GRCm38)	missense	probably damaging	1.00
R2849:Atxn1	UTSW	13	45,566,699 (GRCm38)	missense	probably damaging	1.00
R4326:Atxn1	UTSW	13	45,965,967 (GRCm38)	unclassified	probably benign
R4626:Atxn1	UTSW	13	45,567,099 (GRCm38)	missense	probably damaging	1.00
R4768:Atxn1	UTSW	13	45,557,548 (GRCm38)	missense	probably damaging	1.00
R4944:Atxn1	UTSW	13	45,566,931 (GRCm38)	missense	probably damaging	1.00
R5011:Atxn1	UTSW	13	45,557,069 (GRCm38)	missense	probably damaging	1.00
R5061:Atxn1	UTSW	13	45,557,093 (GRCm38)	missense	probably damaging	1.00
R5293:Atxn1	UTSW	13	45,568,368 (GRCm38)	missense	probably damaging	1.00
R5299:Atxn1	UTSW	13	45,557,254 (GRCm38)	missense	probably benign	0.14
R5561:Atxn1	UTSW	13	45,566,871 (GRCm38)	missense	possibly damaging	0.49
R5667:Atxn1	UTSW	13	45,557,377 (GRCm38)	missense	probably benign	0.17
R6092:Atxn1	UTSW	13	45,566,812 (GRCm38)	missense	probably benign	0.05
R6272:Atxn1	UTSW	13	45,567,762 (GRCm38)	missense	possibly damaging	0.49
R6372:Atxn1	UTSW	13	45,557,456 (GRCm38)	missense	probably damaging	1.00
R6688:Atxn1	UTSW	13	45,567,671 (GRCm38)	missense	probably damaging	0.99
R6997:Atxn1	UTSW	13	45,567,619 (GRCm38)	missense	probably benign	0.04
R7041:Atxn1	UTSW	13	45,566,835 (GRCm38)	missense	probably damaging	1.00
R7578:Atxn1	UTSW	13	45,567,358 (GRCm38)	missense	probably benign	0.02
R7600:Atxn1	UTSW	13	45,557,060 (GRCm38)	missense	possibly damaging	0.90
R8112:Atxn1	UTSW	13	45,567,957 (GRCm38)	missense	probably benign
R8297:Atxn1	UTSW	13	45,567,029 (GRCm38)	missense	probably benign
R8411:Atxn1	UTSW	13	45,566,556 (GRCm38)	missense	probably benign	0.02
R8482:Atxn1	UTSW	13	45,567,950 (GRCm38)	missense	possibly damaging	0.75
R9022:Atxn1	UTSW	13	45,567,415 (GRCm38)	missense	probably damaging	1.00
R9269:Atxn1	UTSW	13	45,557,204 (GRCm38)	missense	probably benign	0.01
R9514:Atxn1	UTSW	13	45,567,957 (GRCm38)	missense	probably benign
R9626:Atxn1	UTSW	13	45,557,320 (GRCm38)	missense	possibly damaging	0.92
R9673:Atxn1	UTSW	13	45,557,146 (GRCm38)	missense	probably benign	0.01
R9744:Atxn1	UTSW	13	45,567,823 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTGACTAATCCTGCAGCCC -3'
(R):5'- GGTTTACATAAAGCACTGTCCGC -3'

Sequencing Primer
(F):5'- AGGGGGCTCAACCTTATGTC -3'
(R):5'- CGCAGGGCTGGATTACTC -3'

Posted On

2022-03-25