Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Atxn10'

265151

Institutional Source

Beutler Lab

Gene Symbol

Atxn10

Ensembl Gene

ENSMUSG00000016541

Gene Name

ataxin 10

Synonyms

Sca10, TEG-169, Tex169, E46

MMRRC Submission

040564-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85220446-85347413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85271206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 248 (D248G)

Ref Sequence

ENSEMBL: ENSMUSP00000132450 (fasta)

Gene Model

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

AlphaFold

P28658

Predicted Effect

probably benign
Transcript: ENSMUST00000163242
AA Change: D248G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: D248G

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

Meta Mutation Damage Score

0.4517

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878 (GRCm38)	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,156,108 (GRCm39)		probably benign	Het
Aadacl4fm4	A	G	4: 144,401,268 (GRCm39)	I72T	probably benign	Het
Abca16	A	G	7: 120,035,074 (GRCm39)	M287V	probably benign	Het
Abca7	G	A	10: 79,835,581 (GRCm39)	R283H	probably damaging	Het
Acad11	A	G	9: 103,953,535 (GRCm39)	I126V	probably damaging	Het
Ahrr	A	G	13: 74,373,006 (GRCm39)	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,338,336 (GRCm39)	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,765,209 (GRCm39)		probably benign	Het
Bard1	A	G	1: 71,127,390 (GRCm39)	V73A	possibly damaging	Het
Catsper3	T	C	13: 55,956,709 (GRCm39)	S376P	unknown	Het
Ccdc150	A	G	1: 54,328,001 (GRCm39)	N361S	possibly damaging	Het
Cxcr6	A	T	9: 123,639,529 (GRCm39)	I177F	probably damaging	Het
Ddx25	A	G	9: 35,462,647 (GRCm39)	V246A	probably damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Dscam	G	A	16: 96,602,555 (GRCm39)	T629I	probably damaging	Het
Evi5l	C	T	8: 4,241,603 (GRCm39)	R311*	probably null	Het
Fxr1	A	G	3: 34,103,333 (GRCm39)	E221G	probably damaging	Het
Gldn	A	T	9: 54,245,807 (GRCm39)	T453S	probably damaging	Het
Ighm	T	A	12: 113,382,596 (GRCm39)		probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,302,028 (GRCm39)		probably benign	Het
Mier3	T	A	13: 111,827,837 (GRCm39)	D7E	probably damaging	Het
Mms19	A	T	19: 41,938,527 (GRCm39)		probably benign	Het
Mrpl20	G	T	4: 155,888,329 (GRCm39)	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,417,778 (GRCm39)	V3575F	probably damaging	Het
Naip5	T	C	13: 100,358,386 (GRCm39)	Y950C	probably benign	Het
Or4d2	A	G	11: 87,784,198 (GRCm39)	V184A	possibly damaging	Het
Or5t9	T	C	2: 86,659,471 (GRCm39)	F125S	possibly damaging	Het
Or8b12b	G	T	9: 37,684,489 (GRCm39)	C178F	probably damaging	Het
Pkd1l2	T	A	8: 117,795,054 (GRCm39)		probably null	Het
Prune2	A	G	19: 17,102,407 (GRCm39)	E2522G	probably damaging	Het
Radil	T	C	5: 142,481,161 (GRCm39)	T549A	possibly damaging	Het
Radx	T	A	X: 138,412,306 (GRCm39)	V439E	possibly damaging	Het
Rasa2	G	A	9: 96,493,526 (GRCm39)	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,165,583 (GRCm39)	F306L	probably damaging	Het
Rbm19	C	T	5: 120,271,075 (GRCm39)	R633C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,280,366 (GRCm39)	L353H	probably damaging	Het
Slc4a4	T	C	5: 89,373,807 (GRCm39)	V971A	probably damaging	Het
Stil	T	A	4: 114,871,266 (GRCm39)		probably benign	Het
Tjp3	T	C	10: 81,116,341 (GRCm39)	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,149,457 (GRCm39)	Y236F	probably benign	Het
Utp14b	T	A	1: 78,642,442 (GRCm39)	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,390 (GRCm39)	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,484,391 (GRCm39)	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,507 (GRCm39)	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,210,196 (GRCm39)	T83A	probably benign	Het
Yae1d1	T	C	13: 18,167,827 (GRCm39)	E22G	probably damaging	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
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
R6645:Atxn10	UTSW	15	85,260,904 (GRCm39)	critical splice donor site	probably null
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'- ACGTGGATCAGTGTCAAATAGTG -3'
(R):5'- GCCCAGATCTGTGTCCTTAC -3'

Sequencing Primer
(F):5'- GATGGATATGAAAAAGTTCTTGCTGC -3'
(R):5'- CTTACCTTATCCTCGGTGTGAG -3'

Posted On

2015-02-05