Mutagenetix > Incidental Mutation

Incidental Mutation 'R4786:Atxn10'

367125

Institutional Source

Beutler Lab

Gene Symbol

Atxn10

Ensembl Gene

ENSMUSG00000016541

Gene Name

ataxin 10

Synonyms

TEG-169, Sca10, E46, Tex169

MMRRC Submission

041995-MU

Accession Numbers

Genbank: NM_016843: MGI: 1859293

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85336245-85463212 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85387143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 294 (H294R)

Ref Sequence

ENSEMBL: ENSMUSP00000132450 (fasta)

Gene Model

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

AlphaFold

P28658

Predicted Effect

probably benign
Transcript: ENSMUST00000163242
AA Change: H294R

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: H294R

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,059,536	I134N	possibly damaging	Het
Acvr1c	T	C	2: 58,280,354	Y414C	probably damaging	Het
Adam32	A	C	8: 24,863,493	S693R	probably damaging	Het
Aldh2	A	T	5: 121,572,824	F314Y	probably benign	Het
Anks1	A	G	17: 28,052,730	D874G	possibly damaging	Het
Ap4b1	T	A	3: 103,818,804	V372E	probably benign	Het
Aqp12	G	A	1: 93,006,455	C18Y	probably damaging	Het
Arap1	T	A	7: 101,385,005	I218N	possibly damaging	Het
Arhgap42	C	A	9: 9,238,698	E28*	probably null	Het
Asb5	G	A	8: 54,585,839	E247K	probably benign	Het
Atg9b	T	C	5: 24,386,089	D781G	possibly damaging	Het
Bod1l	G	T	5: 41,819,438	T1511K	probably benign	Het
Btnl2	A	T	17: 34,363,348	N296I	probably damaging	Het
Camta1	A	T	4: 151,290,039	L168H	probably damaging	Het
Cant1	A	T	11: 118,408,839	V265E	possibly damaging	Het
Ccdc157	T	C	11: 4,151,861	D20G	probably damaging	Het
Cd209c	T	G	8: 3,945,698	T35P	possibly damaging	Het
Cdc20b	G	A	13: 113,078,734	V279M	probably damaging	Het
Cdh18	T	A	15: 23,410,787	W453R	probably null	Het
Cdh24	A	G	14: 54,637,550	S333P	possibly damaging	Het
Ceacam11	T	C	7: 17,972,314		probably null	Het
Ciz1	C	T	2: 32,377,527	P150L	probably damaging	Het
Crip3	C	A	17: 46,431,042	Q152K	possibly damaging	Het
Dars2	G	A	1: 161,060,760	R197W	probably damaging	Het
Dctn4	A	G	18: 60,555,195	D394G	probably damaging	Het
Dido1	T	C	2: 180,670,871	Y1077C	possibly damaging	Het
Dnhd1	A	G	7: 105,674,444	T641A	probably benign	Het
Egln3	A	T	12: 54,185,581	I146N	probably damaging	Het
Eif2ak3	C	T	6: 70,892,618	T763M	possibly damaging	Het
Etfbkmt	A	T	6: 149,147,246	M1L	probably benign	Het
Fam171a1	A	T	2: 3,225,578	I583F	probably damaging	Het
Fbxo38	A	C	18: 62,529,674	L249W	probably damaging	Het
Fxyd5	T	C	7: 31,041,482		probably benign	Het
Gabrr3	C	A	16: 59,430,100	T154K	probably benign	Het
Gm7233	C	A	14: 43,180,890	D90E	probably benign	Het
Gm8186	A	G	17: 26,099,040	V61A	probably benign	Het
Gm9573	A	T	17: 35,619,329		probably benign	Het
Gnao1	A	G	8: 93,944,303	I137V	probably benign	Het
Gnptab	A	G	10: 88,436,182	M945V	probably damaging	Het
Gpsm1	G	A	2: 26,322,481	A78T	probably benign	Het
Gtf2b	T	C	3: 142,781,469	L222P	probably damaging	Het
Hnrnpf	A	G	6: 117,923,896	Y47C	probably damaging	Het
Itga6	A	G	2: 71,838,690	N608S	possibly damaging	Het
Kdm2b	T	C	5: 122,880,854		probably null	Het
Krit1	T	A	5: 3,812,467	H207Q	possibly damaging	Het
Ky	A	G	9: 102,541,987	N398D	probably benign	Het
Lama1	T	A	17: 67,773,859	V1294E	possibly damaging	Het
Lef1	C	T	3: 131,111,524	T18I	probably damaging	Het
Lrp2	T	C	2: 69,537,956	N178S	probably damaging	Het
Lrrc36	A	G	8: 105,455,278	T525A	probably benign	Het
Map3k8	A	T	18: 4,340,647	C222*	probably null	Het
Mapre2	G	C	18: 23,877,959	S199T	probably benign	Het
Mcm3ap	A	G	10: 76,488,466	N911S	probably benign	Het
Mroh4	G	T	15: 74,610,234	H722Q	probably benign	Het
Myo5b	A	C	18: 74,695,380	Y701S	probably benign	Het
Myt1l	G	T	12: 29,811,458	V80L	unknown	Het
Ncoa7	C	A	10: 30,655,642	V24L	probably benign	Het
Nlrp10	A	T	7: 108,925,238	V345D	probably damaging	Het
Nmral1	C	A	16: 4,716,424	G51V	probably damaging	Het
Npc1	A	G	18: 12,199,497	I797T	probably benign	Het
Olfr1269	A	T	2: 90,119,007	I197N	possibly damaging	Het
Olfr936	T	A	9: 39,047,487	R22*	probably null	Het
Olfr954	A	T	9: 39,461,841	I134L	probably benign	Het
Pclo	A	T	5: 14,723,267	I4419F	unknown	Het
Phf3	C	A	1: 30,816,557	E983*	probably null	Het
Pitpnm2	A	T	5: 124,121,743	Y1149*	probably null	Het
Sdc3	A	T	4: 130,822,768	T430S	probably damaging	Het
Sema3f	A	G	9: 107,682,682	V671A	probably benign	Het
Sigirr	T	G	7: 141,091,433	S379R	probably benign	Het
Slc25a23	T	A	17: 57,047,326	N360I	possibly damaging	Het
Slco6c1	A	T	1: 97,087,995	M357K	probably benign	Het
Sox14	C	A	9: 99,874,965	M240I	probably benign	Het
Stradb	A	T	1: 58,991,208		probably benign	Het
Szt2	A	T	4: 118,399,062	M200K	probably benign	Het
Tef	T	C	15: 81,815,252	S85P	probably benign	Het
Thada	T	A	17: 84,458,855	H41L	possibly damaging	Het
Tinagl1	A	G	4: 130,173,931	F90S	probably benign	Het
Tnfaip1	G	A	11: 78,530,219	T5I	possibly damaging	Het
Tnfrsf23	A	T	7: 143,680,064	V59D	probably damaging	Het
Tnpo3	A	G	6: 29,578,542	V311A	probably benign	Het
Trak1	T	A	9: 121,472,494	M772K	probably benign	Het
Ubash3a	A	G	17: 31,217,964	D185G	probably benign	Het
Vmn2r120	T	C	17: 57,522,048	T516A	probably benign	Het
Wdr4	A	C	17: 31,509,811	L130R	probably damaging	Het
Zfp12	T	C	5: 143,245,502	I528T	probably damaging	Het
Zfp607a	T	C	7: 27,879,413	L636P	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
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
R6260:Atxn10	UTSW	15	85462411	missense	probably benign	0.38
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
R8031:Atxn10	UTSW	15	85393393	missense	probably benign
R9062:Atxn10	UTSW	15	85391717	missense	probably benign
R9171:Atxn10	UTSW	15	85393356	missense	probably damaging	1.00
R9201:Atxn10	UTSW	15	85359486	missense	probably damaging	0.98
R9429:Atxn10	UTSW	15	85462364	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CAGCATTGCACAGCAGACTTG -3'
(R):5'- GCCACCTATCACTCAGAGAGTTC -3'

Sequencing Primer
(F):5'- CACAGCAGACTTGTTATGTACTCAGG -3'
(R):5'- GGTCGTCAATGAAGAGCTCTC -3'

Posted On

2015-12-29