Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Atxn3'

443148

Institutional Source

Beutler Lab

Gene Symbol

Atxn3

Ensembl Gene

ENSMUSG00000021189

Gene Name

ataxin 3

Synonyms

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

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5682 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

101885160-101924505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101924406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1 (I1N)

Ref Sequence

ENSEMBL: ENSMUSP00000124419 (fasta)

Gene Model

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

AlphaFold

Q9CVD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021606
AA Change: I4N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: I4N

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 damaging
Transcript: ENSMUST00000159883
AA Change: I1N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
AA Change: I1N

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 damaging
Transcript: ENSMUST00000160251
AA Change: I4N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
AA Change: I4N

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

possibly damaging
Transcript: ENSMUST00000161011
AA Change: I4N

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
AA Change: I4N

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: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	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
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
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'- AGGTGCTGAAAAGGCGACTC -3'
(R):5'- AGAGAAGTTCCTCCGCACAG -3'

Sequencing Primer
(F):5'- TAATCCTCCGGGTGAAGCC -3'
(R):5'- TTCCTCCGCACAGCAGGC -3'

Posted On

2016-11-09