Mutagenetix > Incidental Mutation

Incidental Mutation 'R4849:Atxn3'

373419

Institutional Source

Beutler Lab

Gene Symbol

Atxn3

Ensembl Gene

ENSMUSG00000021189

Gene Name

ataxin 3

Synonyms

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

MMRRC Submission

042461-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101885160-101924505 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101900627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 219 (S219P)

Ref Sequence

ENSEMBL: ENSMUSP00000125082 (fasta)

Gene Model

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

AlphaFold

Q9CVD2

Predicted Effect

probably benign
Transcript: ENSMUST00000021606
AA Change: S219P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021606
Gene: ENSMUSG00000021189
AA Change: S219P

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: S215P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124419
Gene: ENSMUSG00000021189
AA Change: S215P

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000160251
AA Change: S219P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125082
Gene: ENSMUSG00000021189
AA Change: S219P

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: S219P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125378
Gene: ENSMUSG00000021189
AA Change: S219P

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

Meta Mutation Damage Score

0.0715

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	T	7: 28,314,877 (GRCm39)	R239S	possibly damaging	Het
Angptl1	C	A	1: 156,684,735 (GRCm39)	N301K	probably benign	Het
Ankrd26	T	A	6: 118,509,257 (GRCm39)	T603S	probably benign	Het
App	T	C	16: 84,853,322 (GRCm39)	D252G	unknown	Het
Birc6	T	C	17: 74,954,383 (GRCm39)	S3397P	probably damaging	Het
Bivm	A	G	1: 44,182,033 (GRCm39)	I414V	possibly damaging	Het
Cemip	A	G	7: 83,584,945 (GRCm39)	F1324L	possibly damaging	Het
Ckap5	T	A	2: 91,445,616 (GRCm39)	N1724K	probably damaging	Het
Corin	T	A	5: 72,460,178 (GRCm39)	M1035L	probably damaging	Het
Ctnna3	T	C	10: 64,709,094 (GRCm39)	I711T	probably damaging	Het
Cts6	A	T	13: 61,349,415 (GRCm39)	W98R	probably null	Het
Dip2a	A	G	10: 76,130,367 (GRCm39)	S580P	probably damaging	Het
Dock6	A	G	9: 21,723,068 (GRCm39)		probably null	Het
Dusp15	T	A	2: 152,791,002 (GRCm39)	T32S	probably damaging	Het
Eogt	T	A	6: 97,093,016 (GRCm39)	N387I	probably damaging	Het
Evx2	T	C	2: 74,489,675 (GRCm39)	D29G	probably benign	Het
Fat1	A	G	8: 45,466,007 (GRCm39)	N1422S	probably benign	Het
Fat2	T	C	11: 55,201,463 (GRCm39)	D537G	probably damaging	Het
Fat3	A	C	9: 16,289,244 (GRCm39)	I93S	probably benign	Het
Fem1b	T	C	9: 62,704,576 (GRCm39)	E228G	probably damaging	Het
Fh1	A	G	1: 175,448,072 (GRCm39)	T25A	probably benign	Het
Fndc3b	A	G	3: 27,514,097 (GRCm39)	W695R	probably damaging	Het
Gaa	G	A	11: 119,163,813 (GRCm39)	V222I	possibly damaging	Het
Ggnbp1	T	C	17: 27,251,947 (GRCm39)		probably null	Het
Gipc1	A	G	8: 84,388,756 (GRCm39)	Y154C	probably benign	Het
Gm5356	G	T	8: 89,913,670 (GRCm39)		noncoding transcript	Het
Gnl1	T	A	17: 36,298,603 (GRCm39)		probably null	Het
Gpcpd1	C	T	2: 132,376,019 (GRCm39)	G605R	probably damaging	Het
Guca1a	T	C	17: 47,705,662 (GRCm39)	T177A	possibly damaging	Het
Ifit1bl1	T	C	19: 34,572,076 (GRCm39)	E127G	probably damaging	Het
Ift81	A	T	5: 122,729,282 (GRCm39)	I350N	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Ing4	A	G	6: 125,020,946 (GRCm39)	R23G	probably damaging	Het
Ins1	A	G	19: 52,253,384 (GRCm39)	N108S	probably damaging	Het
Iqce	A	T	5: 140,679,214 (GRCm39)	M72K	possibly damaging	Het
Itga3	C	A	11: 94,967,097 (GRCm39)	M22I	probably benign	Het
Kctd18	T	C	1: 58,001,152 (GRCm39)	E201G	probably damaging	Het
Klc1	A	G	12: 111,748,129 (GRCm39)	N344S	probably damaging	Het
Klrb1f	A	T	6: 129,033,347 (GRCm39)	I192F	probably damaging	Het
Klrg2	A	T	6: 38,607,214 (GRCm39)		probably null	Het
Kntc1	A	C	5: 123,897,128 (GRCm39)	I164L	probably benign	Het
Ltf	T	A	9: 110,855,058 (GRCm39)	I357K	probably benign	Het
Mr1	T	C	1: 155,006,436 (GRCm39)	T304A	probably benign	Het
Msh6	C	T	17: 88,290,947 (GRCm39)	R178C	possibly damaging	Het
Mtch1	T	C	17: 29,566,565 (GRCm39)	D66G	probably benign	Het
Mtmr7	A	G	8: 41,062,040 (GRCm39)	V15A	probably benign	Het
Mtss2	A	T	8: 111,452,875 (GRCm39)	H40L	possibly damaging	Het
Mxra8	A	G	4: 155,925,331 (GRCm39)		probably benign	Het
Myo3b	T	C	2: 70,075,253 (GRCm39)	L535P	probably damaging	Het
Neurl2	T	A	2: 164,674,739 (GRCm39)		probably null	Het
Nfia	A	C	4: 97,970,048 (GRCm39)	T503P	probably damaging	Het
Noa1	T	C	5: 77,454,179 (GRCm39)	E487G	possibly damaging	Het
Nuak1	A	T	10: 84,211,143 (GRCm39)	V315D	probably damaging	Het
Nup205	A	G	6: 35,207,505 (GRCm39)	N1519S	possibly damaging	Het
Or10x1	T	A	1: 174,196,966 (GRCm39)	I161K	probably damaging	Het
Or1l4b	T	C	2: 37,036,266 (GRCm39)	L14P	probably damaging	Het
Or1o1	T	C	17: 37,716,589 (GRCm39)	V50A	probably benign	Het
Or51f1e	A	G	7: 102,747,526 (GRCm39)	I193V	possibly damaging	Het
Or6b13	G	T	7: 139,782,340 (GRCm39)	C114*	probably null	Het
Or9s18	G	A	13: 65,300,493 (GRCm39)	V152M	possibly damaging	Het
Peli1	T	A	11: 21,098,528 (GRCm39)		probably benign	Het
Ppp6r1	A	G	7: 4,646,206 (GRCm39)	L175P	probably damaging	Het
Prkcd	A	G	14: 30,321,700 (GRCm39)	L498P	probably damaging	Het
Prss30	T	A	17: 24,191,769 (GRCm39)	I251F	probably benign	Het
Psme3	A	T	11: 101,207,907 (GRCm39)	N21Y	probably benign	Het
Ptpra	T	C	2: 130,374,081 (GRCm39)	Y271H	probably damaging	Het
Ralgapa1	T	A	12: 55,745,588 (GRCm39)	N1303Y	probably damaging	Het
Rims4	T	C	2: 163,707,463 (GRCm39)	I121V	probably benign	Het
Rnf123	A	T	9: 107,933,290 (GRCm39)	L1149Q	probably damaging	Het
Ryr3	T	A	2: 112,738,807 (GRCm39)	L593F	probably damaging	Het
Sec23b	T	C	2: 144,427,519 (GRCm39)	F582S	probably damaging	Het
Sgpl1	T	C	10: 60,940,297 (GRCm39)	K335R	probably benign	Het
Sirpa	C	T	2: 129,451,163 (GRCm39)	T141I	probably damaging	Het
Slit1	G	T	19: 41,637,983 (GRCm39)	A270E	probably benign	Het
Snap91	T	C	9: 86,674,613 (GRCm39)	T533A	possibly damaging	Het
Sphkap	T	G	1: 83,255,105 (GRCm39)	E881D	probably benign	Het
Sptan1	C	A	2: 29,901,054 (GRCm39)	R1407S	probably damaging	Het
Tfdp1	A	G	8: 13,423,895 (GRCm39)	T353A	probably benign	Het
Ttyh1	A	G	7: 4,125,533 (GRCm39)	I62V	possibly damaging	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Zfp398	T	C	6: 47,836,446 (GRCm39)	I82T	possibly damaging	Het
Zp1	A	G	19: 10,896,198 (GRCm39)	Y176H	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
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
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'- GCACTAACTTTCAGAAACGTTAAGGAC -3'
(R):5'- GTGCCTTCATGTTTATCAGACTTG -3'

Sequencing Primer
(F):5'- GACGTGATCCACTTCTCCAAAAATG -3'
(R):5'- AGGACTGGCTACTTTCTAGAGGACC -3'

Posted On

2016-03-01