Mutagenetix > Incidental Mutation

Incidental Mutation 'R7460:Atxn3'

578410

Institutional Source

Beutler Lab

Gene Symbol

Atxn3

Ensembl Gene

ENSMUSG00000021189

Gene Name

ataxin 3

Synonyms

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

MMRRC Submission

045534-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7460 (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 101892776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 313 (T313S)

Ref Sequence

ENSEMBL: ENSMUSP00000021606 (fasta)

Gene Model

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

AlphaFold

Q9CVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000021606
AA Change: T313S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: T313S

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: ENSMUST00000160186

SMART Domains

Protein: ENSMUSP00000124178
Gene: ENSMUSG00000021189

Domain	Start	End	E-Value	Type
UIM	2	21	2.23e-1	SMART
UIM	22	41	1.51e-3	SMART
low complexity region	54	64	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (64/64)

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
Abi2	T	A	1: 60,473,466 (GRCm39)	V61D	probably damaging	Het
Agrn	C	A	4: 156,258,881 (GRCm39)	V915L	probably damaging	Het
Arhgap24	T	C	5: 103,040,212 (GRCm39)	V476A	probably benign	Het
Arhgef15	A	G	11: 68,837,861 (GRCm39)	L720P	probably damaging	Het
Atad2b	C	A	12: 5,002,660 (GRCm39)	R343S	probably benign	Het
BC051665	T	C	13: 60,932,457 (GRCm39)	E76G	probably benign	Het
Birc2	A	T	9: 7,818,762 (GRCm39)	F610I	probably damaging	Het
Cdh16	A	T	8: 105,348,923 (GRCm39)	V58D	possibly damaging	Het
Cenpf	T	C	1: 189,386,247 (GRCm39)	D2011G	probably damaging	Het
Ddb1	T	C	19: 10,585,275 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,281,440 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,261 (GRCm39)	H331R	probably damaging	Het
Dmxl1	A	G	18: 50,011,679 (GRCm39)	T1279A	probably benign	Het
Dync1i2	T	C	2: 71,081,230 (GRCm39)	I473T	probably damaging	Het
Fam114a1	T	G	5: 65,196,050 (GRCm39)	V520G	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	T	A	11: 55,169,789 (GRCm39)	D2990V	probably damaging	Het
Fbh1	C	T	2: 11,761,496 (GRCm39)	G597D	probably benign	Het
Fdxr	A	C	11: 115,167,680 (GRCm39)	S12A	probably benign	Het
Fgf14	T	A	14: 124,914,105 (GRCm39)	R9W	possibly damaging	Het
Gnat3	A	T	5: 18,204,656 (GRCm39)	D103V		Het
Hepacam2	G	A	6: 3,487,199 (GRCm39)	P53S	probably benign	Het
Inhca	T	C	9: 103,131,847 (GRCm39)	N625D	probably benign	Het
Jmjd1c	A	G	10: 67,052,815 (GRCm39)	T21A	probably benign	Het
Lama1	T	C	17: 68,074,013 (GRCm39)	C930R		Het
Lrp1b	T	C	2: 40,488,478 (GRCm39)	T4536A		Het
Lrrc27	T	A	7: 138,803,574 (GRCm39)	V166E	probably damaging	Het
Mapk10	C	T	5: 103,186,443 (GRCm39)	V90I	probably benign	Het
Mfsd14b	C	T	13: 65,219,837 (GRCm39)	G339D	probably damaging	Het
Mnt	T	A	11: 74,734,109 (GRCm39)	M580K	unknown	Het
Mrc1	T	C	2: 14,253,680 (GRCm39)	S234P	probably damaging	Het
Mrps5	G	A	2: 127,433,811 (GRCm39)	V75I	not run	Het
Mrtfb	G	T	16: 13,218,840 (GRCm39)	Q495H	probably benign	Het
Myo10	A	G	15: 25,807,913 (GRCm39)	D1845G	probably damaging	Het
Or3a1c	A	T	11: 74,046,672 (GRCm39)	I231F	probably damaging	Het
Or51a25	A	T	7: 102,373,028 (GRCm39)	M223K	probably benign	Het
Or7a40	C	A	16: 16,491,030 (GRCm39)	A272S	possibly damaging	Het
Or8b3	T	C	9: 38,314,649 (GRCm39)	S160P	possibly damaging	Het
Pdhx	G	A	2: 102,877,124 (GRCm39)	T95M	probably damaging	Het
Pigb	C	T	9: 72,945,957 (GRCm39)	V72I	probably damaging	Het
Prr7	C	A	13: 55,620,166 (GRCm39)	P110Q	unknown	Het
Psg22	A	G	7: 18,458,329 (GRCm39)	D340G	probably benign	Het
Ptprn2	T	C	12: 117,212,301 (GRCm39)	S908P	probably benign	Het
Ros1	T	C	10: 51,994,299 (GRCm39)	Y1348C	probably damaging	Het
Rspry1	T	C	8: 95,376,963 (GRCm39)	I506T	probably benign	Het
Ryr2	T	A	13: 11,720,596 (GRCm39)	Y2684F	probably benign	Het
Sdr16c6	A	G	4: 4,076,575 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,993,545 (GRCm39)	T743A	possibly damaging	Het
Slc6a20b	T	C	9: 123,434,014 (GRCm39)	I275V	probably benign	Het
Slc6a7	A	G	18: 61,134,674 (GRCm39)	I467T	probably benign	Het
Tacc2	A	G	7: 130,226,363 (GRCm39)	D1016G	probably benign	Het
Thsd7a	A	G	6: 12,554,933 (GRCm39)	V317A		Het
Tle3	A	G	9: 61,320,366 (GRCm39)	H598R	probably damaging	Het
Tmem102	A	G	11: 69,694,949 (GRCm39)	L341P	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trappc14	G	A	5: 138,260,991 (GRCm39)	T218M	probably benign	Het
Trhde	T	A	10: 114,249,168 (GRCm39)	D866V	probably damaging	Het
Ttn	A	G	2: 76,581,617 (GRCm39)	I23092T	probably damaging	Het
U2surp	C	A	9: 95,344,877 (GRCm39)	V944L	unknown	Het
Urgcp	T	C	11: 5,666,622 (GRCm39)	H615R	possibly damaging	Het
Vps45	T	A	3: 95,955,699 (GRCm39)	Y97F	probably benign	Het
Zc3h12c	T	C	9: 52,055,402 (GRCm39)	T136A	probably benign	Het
Zfp948	A	T	17: 21,808,677 (GRCm39)	H623L	probably 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
R7546:Atxn3	UTSW	12	101,914,261 (GRCm39)	critical splice donor site	probably null
R8353:Atxn3	UTSW	12	101,912,159 (GRCm39)	missense	probably benign	0.36
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'- CCCTTATAGTTCAGAGGAAATTGGTA -3'
(R):5'- TCAGGCAGTGACCATTTTGATT -3'

Sequencing Primer
(F):5'- AGGCAGGCAGATCTCTTATGACTC -3'
(R):5'- GCAGTGACCATTTTGATTCATGGAAC -3'

Posted On

2019-10-07