Mutagenetix > Incidental Mutations

Incidental Mutation 'R6260:Atxn10'

506647

Institutional Source

Beutler Lab

Gene Symbol

Atxn10

Ensembl Gene

ENSMUSG00000016541

Gene Name

ataxin 10

Synonyms

TEG-169, Sca10, E46, Tex169

MMRRC Submission

044377-MU

Accession Numbers

Genbank: NM_016843: MGI: 1859293

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85336245-85463212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85462411 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 457 (I457F)

Ref Sequence

ENSEMBL: ENSMUSP00000132450 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163242
AA Change: I457F

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: I457F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,008,987	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,934,219	G650*	probably null	Het
Acsbg1	T	A	9: 54,628,467		probably null	Het
Alms1	A	T	6: 85,628,735	K2456*	probably null	Het
Alppl2	A	T	1: 87,088,462	M225K	probably damaging	Het
Ank2	C	T	3: 126,943,557	V2806I	probably benign	Het
Cad	G	T	5: 31,066,800	M800I	probably null	Het
Carmil3	T	A	14: 55,500,432	L815Q	probably damaging	Het
Ccz1	A	G	5: 144,004,041		probably null	Het
Cdc73	G	A	1: 143,691,473	T104I	probably benign	Het
Cfap52	A	T	11: 67,938,954	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,694,848		probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Crocc2	A	G	1: 93,213,638	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,834,361	V86A	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddhd2	A	G	8: 25,752,117	F244L	probably benign	Het
Ddn	A	G	15: 98,805,854	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,162,702	V253L	probably benign	Het
Dnah17	C	A	11: 118,126,322	W197C	probably damaging	Het
Dnah17	C	T	11: 118,126,323	W197*	probably null	Het
Dnah17	A	T	11: 118,126,324	W197R	probably damaging	Het
Ercc6	T	A	14: 32,557,856	D609E	probably benign	Het
Erg	C	A	16: 95,380,241	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,478,555	L549H	probably damaging	Het
Foxd4	A	G	19: 24,899,604	S411P	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Galntl6	T	A	8: 57,884,481	D135V	probably damaging	Het
Gm1043	G	C	5: 37,174,472	G832A	probably benign	Het
Gm14085	A	T	2: 122,523,482	I530F	probably damaging	Het
Gm21103	C	T	14: 6,303,847	E68K	probably damaging	Het
Gm340	A	T	19: 41,582,370	S1C	probably null	Het
Gm340	G	T	19: 41,582,371	S1I	possibly damaging	Het
Gpam	A	G	19: 55,083,406	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,324,102	I304F	unknown	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jak3	C	A	8: 71,679,310	Q177K	probably benign	Het
Kcnu1	G	A	8: 25,851,891	R88H	probably damaging	Het
Kng1	A	T	16: 23,058,621	I60F	possibly damaging	Het
Krt77	A	T	15: 101,864,372	Y257*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map4k5	C	A	12: 69,831,562	R355L	probably benign	Het
Mefv	C	T	16: 3,713,034	R498H	probably benign	Het
Mical3	A	T	6: 121,009,030	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,343,541	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,420,517	C126*	probably null	Het
Nisch	T	A	14: 31,177,128		probably benign	Het
Nt5dc3	A	G	10: 86,811,531	Y130C	probably damaging	Het
Olfr1309	C	T	2: 111,984,051	V8I	probably benign	Het
Olfr694	A	T	7: 106,688,872	N286K	probably damaging	Het
Olfr808	C	A	10: 129,767,520	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,436,839	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,857,487	S504P	probably benign	Het
Plin2	G	T	4: 86,657,289	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,165,291	I575N	probably benign	Het
Pnmal2	T	G	7: 16,946,233	W381G	probably benign	Het
Psma8	A	G	18: 14,721,267	D68G	probably damaging	Het
Rcor3	G	A	1: 192,124,259	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,434,468	G266V	probably damaging	Het
Ryr3	A	G	2: 112,660,104	F3795S	probably damaging	Het
Sord	T	A	2: 122,259,132		probably null	Het
Spdl1	T	A	11: 34,819,886	N345I	probably damaging	Het
St8sia2	T	A	7: 73,976,693	R42S	possibly damaging	Het
Syt9	G	T	7: 107,436,510	V245F	possibly damaging	Het
Tbpl2	T	A	2: 24,094,886	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,553,465	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,667,918	T492A	probably benign	Het
Timm13	A	C	10: 80,900,301		probably benign	Het
Trdmt1	T	A	2: 13,520,059	Q195L	probably benign	Het
Ttc27	T	A	17: 74,858,091	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,216,647	S245*	probably null	Het
Ttc41	A	G	10: 86,731,159	E563G	probably benign	Het
Ttc41	A	T	10: 86,733,707	T650S	probably benign	Het
U2surp	A	C	9: 95,476,157	L723R	probably damaging	Het
Ubqln3	G	A	7: 104,142,317	Q189*	probably null	Het
Vezf1	A	G	11: 88,081,500	N229S	probably damaging	Het
Vmn2r79	T	A	7: 87,037,157	M582K	probably benign	Het
Zfp518a	A	G	19: 40,914,123	D832G	probably benign	Het
Zfyve28	T	C	5: 34,198,872	N762D	probably damaging	Het

Other mutations in Atxn10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Atxn10	APN	15	85336465	start codon destroyed	probably benign	0.33
IGL01020:Atxn10	APN	15	85375422	splice site	probably null
IGL01380:Atxn10	APN	15	85376695	nonsense	probably null
IGL01408:Atxn10	APN	15	85376695	nonsense	probably null
3-1:Atxn10	UTSW	15	85438094	splice site	probably benign
R0190:Atxn10	UTSW	15	85336529	missense	possibly damaging	0.84
R0319:Atxn10	UTSW	15	85365282	missense	probably damaging	1.00
R1437:Atxn10	UTSW	15	85359474	missense	possibly damaging	0.47
R1746:Atxn10	UTSW	15	85376663	missense	probably damaging	1.00
R2050:Atxn10	UTSW	15	85365312	missense	probably benign	0.37
R3055:Atxn10	UTSW	15	85387005	missense	probably benign	0.03
R4559:Atxn10	UTSW	15	85438120	missense	possibly damaging	0.81
R4786:Atxn10	UTSW	15	85387143	missense	probably benign	0.03
R4799:Atxn10	UTSW	15	85376708	splice site	probably null
R4831:Atxn10	UTSW	15	85387059	missense	probably benign	0.01
R5323:Atxn10	UTSW	15	85391743	missense	probably benign	0.00
R5335:Atxn10	UTSW	15	85336584	splice site	probably null
R5355:Atxn10	UTSW	15	85462314	missense	probably damaging	1.00
R5768:Atxn10	UTSW	15	85393420	missense	probably benign	0.01
R6277:Atxn10	UTSW	15	85391692	missense	probably benign	0.05
R6370:Atxn10	UTSW	15	85393385	missense	probably damaging	1.00
R6645:Atxn10	UTSW	15	85376703	critical splice donor site	probably null
R6957:Atxn10	UTSW	15	85336498	missense	probably damaging	1.00
R7859:Atxn10	UTSW	15	85462325	missense	probably benign	0.01
R7942:Atxn10	UTSW	15	85462325	missense	probably benign	0.01
R8031:Atxn10	UTSW	15	85393393	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTACCTCTAACAGTCATGGG -3'
(R):5'- CAGCTCTGTCAGTAACCGTG -3'

Sequencing Primer
(F):5'- CCTCTAACAGTCATGGGAGTTAG -3'
(R):5'- CTCTGTCAGTAACCGTGTCAGAAG -3'

Posted On

2018-03-15