Mutagenetix > Incidental Mutation

Incidental Mutation 'R6645:Atxn10'

526094

Institutional Source

Beutler Lab

Gene Symbol

Atxn10

Ensembl Gene

ENSMUSG00000016541

Gene Name

ataxin 10

Synonyms

Sca10, TEG-169, Tex169, E46

MMRRC Submission

044766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85220446-85347413 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 85260904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163242]

AlphaFold

P28658

Predicted Effect

probably null
Transcript: ENSMUST00000163242

SMART Domains

Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541

Domain	Start	End	E-Value	Type
Pfam:Atx10homo_assoc	370	467	4.7e-38	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice die at early postimplantation stages. [provided by MGI curators]

Allele List at MGI

All alleles(20) : Gene trapped(20)

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anp32e	T	A	3: 95,844,414 (GRCm39)	F95I	probably damaging	Het
Arap1	A	G	7: 101,057,318 (GRCm39)	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,294,737 (GRCm39)	E6D	probably damaging	Het
Ccdc170	A	G	10: 4,510,974 (GRCm39)	I678V	possibly damaging	Het
Ccdc18	T	A	5: 108,286,796 (GRCm39)	V110D	probably benign	Het
Cep85l	C	T	10: 53,177,768 (GRCm39)	E322K	probably benign	Het
Cilp	A	T	9: 65,186,587 (GRCm39)	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,777,708 (GRCm39)	S62P	possibly damaging	Het
Dph7	T	C	2: 24,855,663 (GRCm39)	V154A	probably benign	Het
Ephb6	T	C	6: 41,594,206 (GRCm39)	S579P	probably benign	Het
Fam53a	G	T	5: 33,758,128 (GRCm39)	Q332K	probably benign	Het
Fancm	A	G	12: 65,152,874 (GRCm39)	D1110G	probably damaging	Het
Fh1	A	T	1: 175,442,442 (GRCm39)	V136E	possibly damaging	Het
Greb1	G	T	12: 16,748,580 (GRCm39)	H1132Q	probably benign	Het
Jph1	A	G	1: 17,161,985 (GRCm39)	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,103,730 (GRCm39)	R460*	probably null	Het
Lama5	T	A	2: 179,821,463 (GRCm39)	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,711,030 (GRCm39)	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,799,175 (GRCm39)	W241R	probably damaging	Het
Mfn2	T	A	4: 147,979,069 (GRCm39)	I88F	probably damaging	Het
Mms19	G	C	19: 41,943,630 (GRCm39)	N366K	probably benign	Het
Myo15a	A	G	11: 60,368,118 (GRCm39)	T293A	probably benign	Het
Ndfip2	T	A	14: 105,529,707 (GRCm39)	Y179N	probably damaging	Het
Notch4	A	G	17: 34,806,790 (GRCm39)	D1909G	probably benign	Het
Obscn	C	T	11: 58,976,088 (GRCm39)	S2013N	probably damaging	Het
Oca2	G	T	7: 55,964,522 (GRCm39)	A357S	probably benign	Het
Or8b43	T	C	9: 38,360,219 (GRCm39)	L17S	probably damaging	Het
Or8g35	T	A	9: 39,381,562 (GRCm39)	L153F	probably benign	Het
Pde7b	C	A	10: 20,486,312 (GRCm39)		probably null	Het
Ppef2	T	C	5: 92,378,320 (GRCm39)	N625S	probably benign	Het
Prom1	A	T	5: 44,204,856 (GRCm39)	L192Q	probably damaging	Het
Satb2	T	C	1: 56,836,166 (GRCm39)	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,336,799 (GRCm39)	T59M	probably damaging	Het
Skint6	T	C	4: 112,749,235 (GRCm39)	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,245,774 (GRCm39)	Q624K	probably benign	Het
Slc9a3	T	A	13: 74,312,291 (GRCm39)	H629Q	probably damaging	Het
Slitrk3	G	T	3: 72,957,194 (GRCm39)	A526E	probably benign	Het
Spata31e2	T	A	1: 26,722,198 (GRCm39)	D994V	probably benign	Het
Sptssa	T	C	12: 54,693,275 (GRCm39)	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,590,874 (GRCm39)	S159P	possibly damaging	Het
Tbce	T	C	13: 14,179,814 (GRCm39)	T341A	probably benign	Het
Tdrd6	A	G	17: 43,935,423 (GRCm39)	L1875P	probably benign	Het
Tkt	G	A	14: 30,292,168 (GRCm39)	G425R	probably damaging	Het
Tmprss7	T	C	16: 45,511,326 (GRCm39)	I17M	possibly damaging	Het
Ttc21b	T	C	2: 66,066,721 (GRCm39)	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,750 (GRCm39)	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,255,528 (GRCm39)	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,576,247 (GRCm39)	N373Y	probably damaging	Het
Vmn2r6	A	T	3: 64,464,297 (GRCm39)	V179E	probably damaging	Het
Vps13b	A	G	15: 35,910,451 (GRCm39)	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523 (GRCm39)	Q212H	probably damaging	Het
Washc4	C	T	10: 83,408,059 (GRCm39)	R555*	probably null	Het
Zmat4	G	A	8: 24,287,417 (GRCm39)		probably null	Het

Other mutations in Atxn10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Atxn10	APN	15	85,220,666 (GRCm39)	start codon destroyed	probably benign	0.33
IGL01020:Atxn10	APN	15	85,259,623 (GRCm39)	splice site	probably null
IGL01380:Atxn10	APN	15	85,260,896 (GRCm39)	nonsense	probably null
IGL01408:Atxn10	APN	15	85,260,896 (GRCm39)	nonsense	probably null
3-1:Atxn10	UTSW	15	85,322,295 (GRCm39)	splice site	probably benign
R0190:Atxn10	UTSW	15	85,220,730 (GRCm39)	missense	possibly damaging	0.84
R0319:Atxn10	UTSW	15	85,249,483 (GRCm39)	missense	probably damaging	1.00
R1437:Atxn10	UTSW	15	85,243,675 (GRCm39)	missense	possibly damaging	0.47
R1746:Atxn10	UTSW	15	85,260,864 (GRCm39)	missense	probably damaging	1.00
R2050:Atxn10	UTSW	15	85,249,513 (GRCm39)	missense	probably benign	0.37
R3055:Atxn10	UTSW	15	85,271,206 (GRCm39)	missense	probably benign	0.03
R4559:Atxn10	UTSW	15	85,322,321 (GRCm39)	missense	possibly damaging	0.81
R4786:Atxn10	UTSW	15	85,271,344 (GRCm39)	missense	probably benign	0.03
R4799:Atxn10	UTSW	15	85,260,909 (GRCm39)	splice site	probably null
R4831:Atxn10	UTSW	15	85,271,260 (GRCm39)	missense	probably benign	0.01
R5323:Atxn10	UTSW	15	85,275,944 (GRCm39)	missense	probably benign	0.00
R5335:Atxn10	UTSW	15	85,220,785 (GRCm39)	splice site	probably null
R5355:Atxn10	UTSW	15	85,346,515 (GRCm39)	missense	probably damaging	1.00
R5768:Atxn10	UTSW	15	85,277,621 (GRCm39)	missense	probably benign	0.01
R6260:Atxn10	UTSW	15	85,346,612 (GRCm39)	missense	probably benign	0.38
R6277:Atxn10	UTSW	15	85,275,893 (GRCm39)	missense	probably benign	0.05
R6370:Atxn10	UTSW	15	85,277,586 (GRCm39)	missense	probably damaging	1.00
R6957:Atxn10	UTSW	15	85,220,699 (GRCm39)	missense	probably damaging	1.00
R7859:Atxn10	UTSW	15	85,346,526 (GRCm39)	missense	probably benign	0.01
R8031:Atxn10	UTSW	15	85,277,594 (GRCm39)	missense	probably benign
R9062:Atxn10	UTSW	15	85,275,918 (GRCm39)	missense	probably benign
R9171:Atxn10	UTSW	15	85,277,557 (GRCm39)	missense	probably damaging	1.00
R9201:Atxn10	UTSW	15	85,243,687 (GRCm39)	missense	probably damaging	0.98
R9429:Atxn10	UTSW	15	85,346,565 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TTGGACCAAGTGTCTCATCTTTG -3'
(R):5'- CGATGTGAACTCAATTCCTCCAC -3'

Sequencing Primer
(F):5'- GACCAAGTGTCTCATCTTTGTTTGGC -3'
(R):5'- TACATTAGTGGTTGGAATAAGCCAG -3'

Posted On

2018-06-22