Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01380:Atxn10'

278322

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atxn10

Ensembl Gene

ENSMUSG00000016541

Gene Name

ataxin 10

Synonyms

Sca10, TEG-169, Tex169, E46

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01380

Quality Score

Status

Chromosome

Chromosomal Location

85220446-85347413 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 85260896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 214 (E214*)

Ref Sequence

ENSEMBL: ENSMUSP00000132450 (fasta)

Gene Model

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

AlphaFold

P28658

Predicted Effect

probably null
Transcript: ENSMUST00000163242
AA Change: E214*

SMART Domains

Protein: ENSMUSP00000132450
Gene: ENSMUSG00000016541
AA Change: E214*

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

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,840,053 (GRCm39)	T42A	probably benign	Het
Abcc10	C	A	17: 46,634,948 (GRCm39)	V352L	possibly damaging	Het
Ankrd44	A	T	1: 54,766,724 (GRCm39)	M488K	probably benign	Het
Ano8	A	G	8: 71,933,453 (GRCm39)		probably benign	Het
Atp2a1	T	A	7: 126,047,942 (GRCm39)	M623L	possibly damaging	Het
Btla	A	C	16: 45,070,716 (GRCm39)	D225A	probably benign	Het
C030048H21Rik	G	A	2: 26,146,659 (GRCm39)	Q1218*	probably null	Het
Cacna1a	A	G	8: 85,285,746 (GRCm39)	Y750C	probably damaging	Het
Ccdc15	A	T	9: 37,187,853 (GRCm39)		probably benign	Het
Ccdc18	T	A	5: 108,328,753 (GRCm39)	I724N	probably damaging	Het
Cluh	T	A	11: 74,556,772 (GRCm39)	F937L	probably benign	Het
Clybl	G	T	14: 122,616,761 (GRCm39)	A259S	probably benign	Het
Cyp4f39	T	G	17: 32,700,832 (GRCm39)	I167S	probably damaging	Het
Dchs1	T	A	7: 105,411,418 (GRCm39)	D1566V	probably damaging	Het
Dnah3	C	T	7: 119,525,787 (GRCm39)	A3867T	probably damaging	Het
Dtwd1	T	A	2: 126,001,847 (GRCm39)	L189Q	probably benign	Het
Dusp10	T	C	1: 183,801,211 (GRCm39)	I326T	possibly damaging	Het
Eaf1	T	A	14: 31,219,767 (GRCm39)		probably benign	Het
Eif3c	C	T	7: 126,163,585 (GRCm39)		probably benign	Het
Fam169a	C	T	13: 97,228,459 (GRCm39)	T44M	probably damaging	Het
Fam184a	T	C	10: 53,570,782 (GRCm39)		probably benign	Het
Fam25a	C	T	14: 34,075,655 (GRCm39)	A46T	probably null	Het
Gckr	A	G	5: 31,456,977 (GRCm39)		probably benign	Het
Gfra2	G	T	14: 71,204,586 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,703 (GRCm38)		probably null	Het
H2-Eb2	G	T	17: 34,554,783 (GRCm39)	L228F	probably benign	Het
Igf2r	T	C	17: 12,914,261 (GRCm39)	N1736S	probably benign	Het
Izumo1	T	G	7: 45,276,519 (GRCm39)	S361A	probably benign	Het
Klri1	T	C	6: 129,675,761 (GRCm39)	I170V	probably benign	Het
L3mbtl2	C	T	15: 81,555,326 (GRCm39)	A193V	possibly damaging	Het
Lats1	T	A	10: 7,567,544 (GRCm39)	M105K	possibly damaging	Het
Lrpprc	T	C	17: 85,030,158 (GRCm39)	D1080G	probably benign	Het
Lrrc74a	A	T	12: 86,808,496 (GRCm39)	M425L	possibly damaging	Het
Mfsd13a	G	T	19: 46,356,347 (GRCm39)	D151Y	probably damaging	Het
Mst1	G	A	9: 107,961,787 (GRCm39)	E640K	probably damaging	Het
Napsa	T	C	7: 44,236,098 (GRCm39)	V379A	probably damaging	Het
Or1e16	A	T	11: 73,286,017 (GRCm39)	M277K	probably damaging	Het
Or55b4	C	T	7: 102,133,592 (GRCm39)	C245Y	probably damaging	Het
Or7c19	C	A	8: 85,957,775 (GRCm39)	S217Y	probably damaging	Het
Or7c19	A	T	8: 85,957,958 (GRCm39)	Y278F	possibly damaging	Het
Otop3	T	C	11: 115,237,237 (GRCm39)	V567A	probably damaging	Het
Oxsr1	A	T	9: 119,089,167 (GRCm39)		probably benign	Het
Pak2	A	T	16: 31,860,362 (GRCm39)	V167E	probably benign	Het
Pcdhb16	A	G	18: 37,612,498 (GRCm39)	H486R	probably benign	Het
Plekha5	C	T	6: 140,516,042 (GRCm39)		probably benign	Het
Rbm6	T	C	9: 107,665,548 (GRCm39)	D616G	probably damaging	Het
Sf3b1	T	C	1: 55,027,108 (GRCm39)	Y1249C	probably damaging	Het
Sipa1l3	T	C	7: 29,030,797 (GRCm39)	H534R	possibly damaging	Het
Slco1c1	T	C	6: 141,485,777 (GRCm39)	Y136H	probably damaging	Het
Smarca4	A	G	9: 21,590,369 (GRCm39)	M1333V	probably benign	Het
Smc4	A	G	3: 68,933,161 (GRCm39)	D54G	probably damaging	Het
Spag5	T	A	11: 78,195,443 (GRCm39)	V250E	possibly damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Suv39h2	T	A	2: 3,465,296 (GRCm39)		probably benign	Het
Taar8b	T	A	10: 23,968,005 (GRCm39)	H63L	probably damaging	Het
Tex2	G	A	11: 106,435,141 (GRCm39)	Q264*	probably null	Het
Thnsl2	A	C	6: 71,115,740 (GRCm39)	S156A	probably benign	Het
Tmtc4	G	T	14: 123,163,366 (GRCm39)		probably benign	Het
Usp25	T	C	16: 76,890,566 (GRCm39)	L758P	probably benign	Het
Zfyve1	G	A	12: 83,599,281 (GRCm39)	R144C	probably damaging	Het
Zpld1	A	G	16: 55,072,133 (GRCm39)	V42A	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
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
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

Posted On

2015-04-16