Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Atxn3'

660552

Institutional Source

Beutler Lab

Gene Symbol

Atxn3

Ensembl Gene

ENSMUSG00000021189

Gene Name

ataxin 3

Synonyms

ataxin-3, Sca3, Mjd, MJD1, 2210008M02Rik, Atx3

MMRRC Submission

067805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8353 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101885160-101924505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101912159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 85 (K85I)

Ref Sequence

ENSEMBL: ENSMUSP00000125378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021606] [ENSMUST00000159883] [ENSMUST00000160251] [ENSMUST00000161011]

AlphaFold

Q9CVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000021606
AA Change: K85I

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: K85I

Domain	Start	End	E-Value	Type
Josephin	8	168	1.6e-91	SMART
UIM	224	243	2.23e-1	SMART
UIM	244	263	1.51e-3	SMART
low complexity region	276	286	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC
UIM	329	348	7.34e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159883
AA Change: K81I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
AA Change: K81I

Domain	Start	End	E-Value	Type
Josephin	5	164	1.1e-89	SMART
UIM	220	239	2.23e-1	SMART
UIM	240	259	1.51e-3	SMART
low complexity region	272	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160251
AA Change: K85I

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
AA Change: K85I

Domain	Start	End	E-Value	Type
Josephin	8	168	1.6e-91	SMART
UIM	224	243	2.23e-1	SMART
UIM	244	263	8.77e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161011
AA Change: K85I

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
AA Change: K85I

Domain	Start	End	E-Value	Type
Josephin	8	168	1.6e-91	SMART
UIM	224	243	2.23e-1	SMART
UIM	244	263	1.51e-3	SMART
low complexity region	276	286	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
PHENOTYPE: Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,310,659 (GRCm39)	T752A	probably damaging	Het
Adar	A	G	3: 89,657,569 (GRCm39)	T508A	possibly damaging	Het
Atxn7l1	G	T	12: 33,197,882 (GRCm39)	W50L	probably damaging	Het
Bahcc1	T	C	11: 120,165,251 (GRCm39)	V894A	probably damaging	Het
Bloc1s3	G	T	7: 19,241,324 (GRCm39)	T68K	probably benign	Het
Bmerb1	T	A	16: 13,855,877 (GRCm39)		probably null	Het
Brd10	T	C	19: 29,731,242 (GRCm39)	H590R	possibly damaging	Het
C130073F10Rik	C	T	4: 101,747,881 (GRCm39)		probably null	Het
Cd55b	T	C	1: 130,341,870 (GRCm39)	I256V	probably benign	Het
Celsr3	T	A	9: 108,703,734 (GRCm39)	D72E	probably benign	Het
Cep41	T	C	6: 30,658,891 (GRCm39)	D152G	probably benign	Het
Cip2a	C	T	16: 48,821,436 (GRCm39)	Q181*	probably null	Het
Cpne8	C	A	15: 90,425,496 (GRCm39)	K285N	possibly damaging	Het
Csmd3	A	T	15: 47,813,349 (GRCm39)	I1061K	probably damaging	Het
Cspg4	A	T	9: 56,805,953 (GRCm39)	N2255Y	probably damaging	Het
Cym	T	A	3: 107,129,025 (GRCm39)		probably benign	Het
Cyp2d9	T	C	15: 82,336,720 (GRCm39)	V23A	probably damaging	Het
Dnah1	A	T	14: 31,005,159 (GRCm39)	I2365K	probably benign	Het
Dock5	C	T	14: 68,054,957 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,403,639 (GRCm39)	H1613L	probably damaging	Het
Dusp5	T	C	19: 53,518,113 (GRCm39)	V122A	possibly damaging	Het
Emc6	A	G	11: 73,067,399 (GRCm39)	L44P	probably damaging	Het
Fbxl6	G	T	15: 76,422,678 (GRCm39)	T80K	probably benign	Het
Frrs1	T	A	3: 116,692,822 (GRCm39)	M32K	possibly damaging	Het
Gfod1	A	G	13: 43,354,366 (GRCm39)	V203A	possibly damaging	Het
Gjc2	G	A	11: 59,067,840 (GRCm39)	A214V	unknown	Het
Gkn2	T	C	6: 87,355,135 (GRCm39)	Y115H	probably damaging	Het
Gpatch1	A	C	7: 34,976,704 (GRCm39)		probably benign	Het
Hemgn	G	T	4: 46,403,935 (GRCm39)	P20Q	possibly damaging	Het
Herc1	G	T	9: 66,415,571 (GRCm39)	V4849L	possibly damaging	Het
Hmcn2	A	T	2: 31,275,353 (GRCm39)		probably null	Het
Htt	C	A	5: 35,034,499 (GRCm39)	T1990N	possibly damaging	Het
Jrk	C	T	15: 74,578,474 (GRCm39)	W270*	probably null	Het
Katnb1	A	G	8: 95,822,072 (GRCm39)	D266G	probably damaging	Het
Klhl42	A	G	6: 147,009,421 (GRCm39)	K420R	probably damaging	Het
Lamb1	C	A	12: 31,356,998 (GRCm39)	T1035K	probably damaging	Het
Laptm5	T	C	4: 130,656,079 (GRCm39)		probably null	Het
Lilra5	T	C	7: 4,240,971 (GRCm39)	S22P	probably benign	Het
Mn1	A	G	5: 111,568,505 (GRCm39)	N825S	possibly damaging	Het
Mup17	C	T	4: 61,510,419 (GRCm39)		probably null	Het
Ncapd3	T	A	9: 26,983,100 (GRCm39)	D949E	probably benign	Het
Ncoa7	T	C	10: 30,570,155 (GRCm39)	E230G	probably damaging	Het
Nxnl1	A	G	8: 72,015,512 (GRCm39)	V132A	probably damaging	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Pabpc4	T	G	4: 123,189,846 (GRCm39)	L555R	probably benign	Het
Ppp1r11	G	T	17: 37,260,866 (GRCm39)	S21R	possibly damaging	Het
Prr36	T	C	8: 4,263,831 (GRCm39)		probably benign	Het
Serpina1a	T	A	12: 103,822,038 (GRCm39)	D298V	probably benign	Het
Sqle	A	T	15: 59,196,314 (GRCm39)	H369L	possibly damaging	Het
Stambp	T	C	6: 83,538,881 (GRCm39)	E173G	probably damaging	Het
Syne1	T	C	10: 5,300,983 (GRCm39)	N915S	probably damaging	Het
Tjap1	C	A	17: 46,593,530 (GRCm39)		probably benign	Het
Tmem62	A	C	2: 120,814,817 (GRCm39)	K30T	probably damaging	Het
Tmtc1	T	C	6: 148,327,346 (GRCm39)	T56A	probably benign	Het
Trav6-4	A	T	14: 53,691,946 (GRCm39)	M18L	probably benign	Het
Trim69	T	C	2: 121,998,490 (GRCm39)	I154T	possibly damaging	Het
Uggt1	T	C	1: 36,209,377 (GRCm39)		probably null	Het
Usp48	T	A	4: 137,350,693 (GRCm39)	M60K	probably benign	Het
Usp7	A	G	16: 8,513,735 (GRCm39)	S753P	probably benign	Het
Vmn2r27	A	C	6: 124,169,404 (GRCm39)	N575K	probably damaging	Het
Wdfy4	A	C	14: 32,695,581 (GRCm39)	D2672E	probably benign	Het
Zdhhc17	G	A	10: 110,845,803 (GRCm39)	P30L	probably benign	Het
Zmym4	T	A	4: 126,800,905 (GRCm39)	Y565F	possibly damaging	Het

Other mutations in Atxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Atxn3	APN	12	101,892,767 (GRCm39)	missense	possibly damaging	0.94
IGL01364:Atxn3	APN	12	101,900,682 (GRCm39)	splice site	probably benign
IGL01393:Atxn3	APN	12	101,899,306 (GRCm39)	nonsense	probably null
IGL01994:Atxn3	APN	12	101,908,439 (GRCm39)	missense	probably benign
IGL03214:Atxn3	APN	12	101,912,181 (GRCm39)	splice site	probably benign
R1081:Atxn3	UTSW	12	101,900,608 (GRCm39)	missense	probably damaging	0.98
R1255:Atxn3	UTSW	12	101,900,593 (GRCm39)	missense	probably damaging	1.00
R1288:Atxn3	UTSW	12	101,908,437 (GRCm39)	splice site	probably null
R1435:Atxn3	UTSW	12	101,908,460 (GRCm39)	missense	probably benign	0.18
R1466:Atxn3	UTSW	12	101,892,758 (GRCm39)	missense	possibly damaging	0.73
R1466:Atxn3	UTSW	12	101,892,758 (GRCm39)	missense	possibly damaging	0.73
R2032:Atxn3	UTSW	12	101,908,453 (GRCm39)	nonsense	probably null
R2345:Atxn3	UTSW	12	101,914,580 (GRCm39)	missense	probably damaging	1.00
R2882:Atxn3	UTSW	12	101,903,670 (GRCm39)	missense	probably damaging	1.00
R4593:Atxn3	UTSW	12	101,889,436 (GRCm39)	missense	probably benign	0.01
R4628:Atxn3	UTSW	12	101,889,337 (GRCm39)	unclassified	probably benign
R4849:Atxn3	UTSW	12	101,900,627 (GRCm39)	missense	probably benign	0.02
R4876:Atxn3	UTSW	12	101,914,638 (GRCm39)	missense	probably damaging	1.00
R4960:Atxn3	UTSW	12	101,914,638 (GRCm39)	missense	possibly damaging	0.92
R5682:Atxn3	UTSW	12	101,924,406 (GRCm39)	missense	probably damaging	1.00
R6010:Atxn3	UTSW	12	101,914,285 (GRCm39)	missense	probably damaging	1.00
R6520:Atxn3	UTSW	12	101,900,660 (GRCm39)	missense	probably damaging	1.00
R6629:Atxn3	UTSW	12	101,903,665 (GRCm39)	missense	probably benign	0.11
R7460:Atxn3	UTSW	12	101,892,776 (GRCm39)	missense	probably benign	0.15
R7546:Atxn3	UTSW	12	101,914,261 (GRCm39)	critical splice donor site	probably null
R9050:Atxn3	UTSW	12	101,924,387 (GRCm39)	splice site	probably benign
R9072:Atxn3	UTSW	12	101,903,730 (GRCm39)	critical splice acceptor site	probably null
R9073:Atxn3	UTSW	12	101,903,730 (GRCm39)	critical splice acceptor site	probably null
X0061:Atxn3	UTSW	12	101,924,398 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGTGAAGTCTAAGGGCATC -3'
(R):5'- CCTCAGAATGGAAAAGCTCTCTTTC -3'

Sequencing Primer
(F):5'- GTGAAGTCTAAGGGCATCAAATAC -3'
(R):5'- GTTCCCAGCATGTACGATAGACTG -3'

Posted On

2021-01-18