Mutagenetix > Incidental Mutation

Incidental Mutation 'R6370:Atxn10'

513500

Institutional Source

Beutler Lab

Gene Symbol

Atxn10

Ensembl Gene

ENSMUSG00000016541

Gene Name

ataxin 10

Synonyms

Sca10, TEG-169, Tex169, E46

MMRRC Submission

044520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6370 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85220446-85347413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85277586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 351 (F351S)

Ref Sequence

ENSEMBL: ENSMUSP00000132450 (fasta)

Gene Model

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

AlphaFold

P28658

Predicted Effect

probably damaging
Transcript: ENSMUST00000163242
AA Change: F351S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: F351S

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: 94.1%

Validation Efficiency

95% (54/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb6	A	G	2: 30,717,024 (GRCm39)	V67A	probably damaging	Het
Atic	T	A	1: 71,617,819 (GRCm39)	F590I	probably damaging	Het
Bcl2l13	A	G	6: 120,842,583 (GRCm39)	N92S	probably benign	Het
Carm1	G	T	9: 21,498,815 (GRCm39)	A518S	probably benign	Het
Ccar1	C	T	10: 62,600,308 (GRCm39)	R541H	probably damaging	Het
Cfhr2	A	T	1: 139,750,065 (GRCm39)	L96Q	probably damaging	Het
Chrnb4	A	G	9: 54,942,143 (GRCm39)	L377S	probably benign	Het
Clcn3	A	G	8: 61,376,058 (GRCm39)	Y639H	probably damaging	Het
Cngb1	C	T	8: 95,991,050 (GRCm39)	M717I	probably benign	Het
Ctcf	T	C	8: 106,390,852 (GRCm39)	M153T	probably benign	Het
Cyp2b19	T	C	7: 26,462,783 (GRCm39)	S222P	probably benign	Het
Dixdc1	A	T	9: 50,593,523 (GRCm39)		probably null	Het
Entpd2	G	A	2: 25,287,429 (GRCm39)	G47S	probably damaging	Het
Erbb3	A	G	10: 128,405,943 (GRCm39)	M1158T	possibly damaging	Het
Faah	T	C	4: 115,860,253 (GRCm39)	D333G	probably damaging	Het
Foxred2	T	A	15: 77,827,506 (GRCm39)	T618S	probably benign	Het
Gm2381	G	A	7: 42,470,010 (GRCm39)	A38V	probably benign	Het
Gpx5	A	T	13: 21,472,872 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,646,334 (GRCm39)	V98A	probably damaging	Het
Hal	T	C	10: 93,333,368 (GRCm39)	I312T	probably damaging	Het
Krtap21-1	T	C	16: 89,200,519 (GRCm39)	Y41C	unknown	Het
Larp6	A	G	9: 60,644,646 (GRCm39)	E262G	probably damaging	Het
Lrrn1	A	G	6: 107,546,185 (GRCm39)	Y661C	probably damaging	Het
Lsm14a	A	G	7: 34,056,906 (GRCm39)	V244A	probably benign	Het
Mfrp	T	C	9: 44,017,558 (GRCm39)	C517R	probably damaging	Het
Mtarc1	T	C	1: 184,527,689 (GRCm39)	D257G	probably damaging	Het
Ncoa3	T	C	2: 165,907,825 (GRCm39)	S1145P	probably benign	Het
Nosip	G	T	7: 44,726,164 (GRCm39)		probably null	Het
Or4c100	T	A	2: 88,329,712 (GRCm39)	C94*	probably null	Het
Or51f2	A	T	7: 102,526,377 (GRCm39)	T17S	probably benign	Het
Or52n1	T	C	7: 104,383,124 (GRCm39)	K149R	probably benign	Het
Phykpl	T	C	11: 51,477,543 (GRCm39)	S112P	probably damaging	Het
Pik3cb	A	T	9: 98,922,987 (GRCm39)	I1015K	probably damaging	Het
Pomt2	A	G	12: 87,155,973 (GRCm39)	W818R	probably damaging	Het
Ptpn21	A	T	12: 98,655,293 (GRCm39)	M558K	possibly damaging	Het
Rnf213	T	A	11: 119,367,904 (GRCm39)	N4647K	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Rxrg	T	C	1: 167,462,006 (GRCm39)	V227A	probably damaging	Het
Satb1	A	T	17: 52,089,825 (GRCm39)	S341T	possibly damaging	Het
Skint5	T	G	4: 113,471,307 (GRCm39)	Q983P	unknown	Het
Slc6a18	G	A	13: 73,816,278 (GRCm39)	T367I	probably benign	Het
Slc7a1	A	G	5: 148,277,483 (GRCm39)	L344P	probably damaging	Het
Slc7a6	T	A	8: 106,922,069 (GRCm39)	F399I	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Sugt1	T	C	14: 79,847,774 (GRCm39)	V208A	probably benign	Het
Syt3	A	G	7: 44,045,107 (GRCm39)	K480E	probably damaging	Het
Thop1	C	T	10: 80,913,817 (GRCm39)	T186I	probably benign	Het
Trim55	G	A	3: 19,745,650 (GRCm39)	E509K	possibly damaging	Het
Upf2	A	G	2: 5,980,821 (GRCm39)	N469S	unknown	Het
Usp24	G	T	4: 106,237,718 (GRCm39)	K1125N	probably null	Het
Usp5	A	T	6: 124,797,391 (GRCm39)	D494E	probably benign	Het
Vmn2r51	T	C	7: 9,832,143 (GRCm39)	K481R	probably damaging	Het
Vps16	C	A	2: 130,285,304 (GRCm39)	A787D	probably damaging	Het
Washc4	C	T	10: 83,407,226 (GRCm39)	H488Y	possibly damaging	Het
Wdfy4	C	A	14: 32,790,807 (GRCm39)	A2053S	probably benign	Het
Zfp74	A	T	7: 29,631,835 (GRCm39)	D136E	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
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
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'- GCGTGAGGATGAACTGATGC -3'
(R):5'- CCTTGCCCAGAGAGAAAATAGTC -3'

Sequencing Primer
(F):5'- ATGAACTGATGCCGCCAG -3'
(R):5'- GCCCAGAGAGAAAATAGTCTAAATTC -3'

Posted On

2018-04-27