Mutagenetix > Incidental Mutation

Incidental Mutation 'R9269:Atxn1'

702790

Institutional Source

Beutler Lab

Gene Symbol

Atxn1

Ensembl Gene

ENSMUSG00000046876

Gene Name

ataxin 1

Synonyms

Atx1, Sca1, 2900016G23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9269 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45703231-46118467 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45710680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 751 (T751S)

Ref Sequence

ENSEMBL: ENSMUSP00000137439 (fasta)

Gene Model

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

AlphaFold

P54254

Predicted Effect

probably benign
Transcript: ENSMUST00000091628
AA Change: T743S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000089217
Gene: ENSMUSG00000046876
AA Change: T743S

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: T743S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000129890
Gene: ENSMUSG00000046876
AA Change: T743S

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: T751S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000137439
Gene: ENSMUSG00000046876
AA Change: T751S

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: 98.6%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,637,865 (GRCm39)	S845P	probably benign	Het
Actn1	T	A	12: 80,219,745 (GRCm39)	N709Y	probably benign	Het
Alox5ap	A	G	5: 149,216,006 (GRCm39)	Y64C	probably damaging	Het
Anapc4	T	A	5: 53,018,620 (GRCm39)	S521T	possibly damaging	Het
Ap3b1	C	A	13: 94,540,570 (GRCm39)	P164Q	probably damaging	Het
Arhgef26	A	G	3: 62,247,920 (GRCm39)	N335D	probably damaging	Het
Arrdc2	G	A	8: 71,288,973 (GRCm39)	A354V	probably benign	Het
Atg2b	A	G	12: 105,618,359 (GRCm39)	S898P	probably damaging	Het
Begain	T	A	12: 108,999,119 (GRCm39)	R551W	possibly damaging	Het
Borcs8	C	A	8: 70,594,521 (GRCm39)	D15E	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Card11	A	T	5: 140,892,516 (GRCm39)	M183K	probably damaging	Het
Cldn3	T	C	5: 135,015,579 (GRCm39)	L94P	probably damaging	Het
Clvs2	A	T	10: 33,419,422 (GRCm39)	Y211N	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cop1	C	T	1: 159,116,553 (GRCm39)	P409L	probably benign	Het
Cplane1	A	C	15: 8,248,500 (GRCm39)	Q1683P	probably damaging	Het
Crhbp	C	A	13: 95,573,024 (GRCm39)	A241S	probably benign	Het
Cyfip1	C	A	7: 55,557,179 (GRCm39)	S794*	probably null	Het
Dlg5	T	A	14: 24,242,881 (GRCm39)	H172L	probably damaging	Het
Doc2a	T	A	7: 126,450,159 (GRCm39)	I199N	probably benign	Het
Dock3	T	C	9: 106,818,522 (GRCm39)	T1191A	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Eif4a3l2	C	T	6: 116,529,317 (GRCm39)	T398I	probably damaging	Het
Fcgr1	C	T	3: 96,193,154 (GRCm39)	R281H	probably benign	Het
Fndc10	T	C	4: 155,779,205 (GRCm39)	V83A	possibly damaging	Het
Galnt2	T	A	8: 125,065,202 (GRCm39)	I444K	probably benign	Het
Gcnt3	T	C	9: 69,941,290 (GRCm39)	Y426C	probably damaging	Het
Gtpbp1	C	T	15: 79,601,855 (GRCm39)	R533C	probably damaging	Het
Hid1	T	C	11: 115,252,502 (GRCm39)	E60G	probably damaging	Het
Ighv1-81	A	T	12: 115,884,161 (GRCm39)	L30Q	possibly damaging	Het
Ighv5-8	TATATATATATATATATATATA	TATATATATATATATATATATATA	12: 113,618,565 (GRCm39)		probably null	Het
Ilrun	A	C	17: 28,005,049 (GRCm39)	Y169*	probably null	Het
Klf10	A	G	15: 38,298,002 (GRCm39)	L44P	probably damaging	Het
Lamc3	T	C	2: 31,813,017 (GRCm39)	V1001A	probably benign	Het
Lamc3	C	A	2: 31,818,908 (GRCm39)	S1211*	probably null	Het
Lmx1a	T	A	1: 167,658,194 (GRCm39)	H192Q	probably benign	Het
Nkx2-4	T	C	2: 146,926,184 (GRCm39)	H226R	possibly damaging	Het
Or2d2	T	C	7: 106,727,833 (GRCm39)	I256V	probably benign	Het
Or4a68	T	A	2: 89,270,276 (GRCm39)	M116L	probably damaging	Het
Or4k37	T	C	2: 111,159,297 (GRCm39)	F178L	probably damaging	Het
Or4p18	G	A	2: 88,232,586 (GRCm39)	R231C	probably benign	Het
Or5b101	T	C	19: 13,004,994 (GRCm39)	H233R	probably benign	Het
Or5b114-ps1	A	T	19: 13,353,004 (GRCm39)	N226I	unknown	Het
Or5p52	T	A	7: 107,502,527 (GRCm39)	I201N	possibly damaging	Het
Or7e175	T	C	9: 20,048,757 (GRCm39)	M115T	probably damaging	Het
Or8k1	T	C	2: 86,047,247 (GRCm39)	H269R	probably damaging	Het
Orai3	G	T	7: 127,373,194 (GRCm39)	A232S	probably benign	Het
Pak1ip1	G	A	13: 41,162,727 (GRCm39)	G177R	probably benign	Het
Pcp4l1	T	C	1: 171,001,975 (GRCm39)	R62G	possibly damaging	Het
Phox2b	T	A	5: 67,256,064 (GRCm39)	Q74L	probably benign	Het
Pi4kb	A	G	3: 94,891,797 (GRCm39)	Y159C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	T	C	6: 89,306,541 (GRCm39)	R1430G	probably null	Het
Plxna4	T	C	6: 32,155,315 (GRCm39)	H1543R	probably benign	Het
Prcc	A	T	3: 87,777,038 (GRCm39)	F312Y	probably damaging	Het
Ranbp6	A	G	19: 29,787,388 (GRCm39)	L988P	probably damaging	Het
Rbm27	A	G	18: 42,460,572 (GRCm39)	T840A	probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Rmi1	C	T	13: 58,556,840 (GRCm39)	T363I	probably benign	Het
Rnpc3	A	C	3: 113,404,895 (GRCm39)	I420S	probably damaging	Het
Rsph4a	T	A	10: 33,785,394 (GRCm39)	V435E	probably benign	Het
Rwdd1	T	C	10: 33,888,095 (GRCm39)	T38A	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Sel1l3	T	C	5: 53,311,628 (GRCm39)	Y619C	probably damaging	Het
Sf3b3	T	C	8: 111,538,658 (GRCm39)	T1121A	probably damaging	Het
Sgk3	T	C	1: 9,942,534 (GRCm39)	V102A	probably benign	Het
Sh2b1	T	C	7: 126,068,354 (GRCm39)	T486A	probably damaging	Het
Slc22a5	C	T	11: 53,766,981 (GRCm39)	R169H	probably damaging	Het
Slc4a5	T	C	6: 83,266,223 (GRCm39)	V889A	possibly damaging	Het
Spast	C	A	17: 74,646,069 (GRCm39)	S13*	probably null	Het
Srek1	T	C	13: 103,889,654 (GRCm39)		probably null	Het
Sugp1	G	T	8: 70,509,220 (GRCm39)	E164D	probably benign	Het
Synpo2	T	C	3: 122,910,973 (GRCm39)	D224G	probably benign	Het
Tanc1	A	G	2: 59,630,432 (GRCm39)	D804G	probably damaging	Het
Tep1	C	T	14: 51,081,766 (GRCm39)	C1228Y	probably damaging	Het
Tes	T	A	6: 17,100,341 (GRCm39)	C325S	probably benign	Het
Themis	T	C	10: 28,739,390 (GRCm39)	V620A	probably benign	Het
Trim17	T	C	11: 58,862,257 (GRCm39)	S430P	probably damaging	Het
Tubgcp5	T	C	7: 55,445,693 (GRCm39)	I65T	possibly damaging	Het
Unc13b	T	C	4: 43,171,955 (GRCm39)	S928P	unknown	Het
Vat1l	C	T	8: 115,016,172 (GRCm39)	A354V	probably damaging	Het
Vmn1r170	T	A	7: 23,306,263 (GRCm39)	S222T	probably benign	Het
Vmn2r112	A	T	17: 22,820,213 (GRCm39)	M29L	probably benign	Het
Vmn2r72	T	C	7: 85,400,411 (GRCm39)	I213V	probably benign	Het
Wdr89	T	A	12: 75,679,564 (GRCm39)	Q230L	possibly damaging	Het
Zfp386	A	G	12: 116,023,283 (GRCm39)	T334A	probably benign	Het
Zfp442	T	A	2: 150,251,287 (GRCm39)	H205L	probably benign	Het
Zfyve26	A	T	12: 79,323,076 (GRCm39)	I890N	possibly damaging	Het
Zic1	T	C	9: 91,246,373 (GRCm39)	E233G	probably damaging	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
R9022:Atxn1	UTSW	13	45,720,891 (GRCm39)	missense	probably damaging	1.00
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'- CTGCGACACACCTGTTTGAC -3'
(R):5'- CAAGAACCTGAAGAATGGCTCTG -3'

Sequencing Primer
(F):5'- GACACACCTGTTTGACTCTAATGAC -3'
(R):5'- CTCTGTTAAAAAGGGCCAGCCTG -3'

Posted On

2022-03-25