Mutagenetix > Incidental Mutation

Incidental Mutation 'R6490:Atxn7'

522802

Institutional Source

Beutler Lab

Gene Symbol

Atxn7

Ensembl Gene

ENSMUSG00000021738

Gene Name

ataxin 7

Synonyms

Sca7, A430107N12Rik, ataxin-7

MMRRC Submission

044622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6490 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8362461-8508323 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 14089446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 321 (R321*)

Ref Sequence

ENSEMBL: ENSMUSP00000152934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022257] [ENSMUST00000223714] [ENSMUST00000223880]

AlphaFold

Q8R4I1

Predicted Effect

probably null
Transcript: ENSMUST00000022257
AA Change: R321*

SMART Domains

Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: R321*

Domain	Start	End	E-Value	Type
low complexity region	13	47	N/A	INTRINSIC
low complexity region	50	66	N/A	INTRINSIC
ZnF_C2H2	135	157	2.47e1	SMART
low complexity region	174	197	N/A	INTRINSIC
low complexity region	202	218	N/A	INTRINSIC
Pfam:SCA7	313	381	1.4e-30	PFAM
low complexity region	393	413	N/A	INTRINSIC
low complexity region	470	484	N/A	INTRINSIC
low complexity region	619	647	N/A	INTRINSIC
low complexity region	675	713	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000223714
AA Change: R321*

Predicted Effect

probably null
Transcript: ENSMUST00000223880
AA Change: R321*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224616

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Heterozygotes for a targeted mutation with an expanded polyglutamine tract exhibit impaired coordination, ataxia, reduced growth, kyphosis, eye defects, poor reproduction, and high mortality at around 4 months. Homozygotes die at 7-8 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	T	G	8: 122,267,293 (GRCm39)	K38T	probably benign	Het
Abca13	A	G	11: 9,248,661 (GRCm39)	T2803A	probably benign	Het
Adam23	A	G	1: 63,596,613 (GRCm39)	D565G	probably damaging	Het
Adcy3	A	G	12: 4,262,150 (GRCm39)	T1067A	probably damaging	Het
Agrn	A	T	4: 156,251,819 (GRCm39)	Y1921*	probably null	Het
Apc2	A	G	10: 80,149,757 (GRCm39)	N1604D	probably benign	Het
Axin1	T	A	17: 26,361,968 (GRCm39)	I104N	probably damaging	Het
Bahd1	T	C	2: 118,747,619 (GRCm39)	S413P	probably benign	Het
Baz2b	C	T	2: 59,732,073 (GRCm39)	C2024Y	probably damaging	Het
Cacna1i	T	A	15: 80,262,448 (GRCm39)	V1388E	probably damaging	Het
Ces4a	G	A	8: 105,876,090 (GRCm39)	V544M	probably benign	Het
Cntn3	G	A	6: 102,255,301 (GRCm39)	T199I	probably damaging	Het
Col6a4	A	T	9: 105,952,191 (GRCm39)	L569*	probably null	Het
Ctnna2	A	G	6: 77,120,892 (GRCm39)	I12T	probably benign	Het
Dhx37	A	G	5: 125,496,196 (GRCm39)	M754T	probably benign	Het
Dmrt1	T	A	19: 25,523,395 (GRCm39)	S249T	possibly damaging	Het
Ell	G	T	8: 71,025,553 (GRCm39)	S59I	probably damaging	Het
Fam89a	G	A	8: 125,467,982 (GRCm39)	S110F	probably damaging	Het
Fer1l4	A	C	2: 155,889,834 (GRCm39)	F278V	possibly damaging	Het
Fyn	T	C	10: 39,427,398 (GRCm39)	I427T	probably damaging	Het
Galnt14	T	C	17: 73,832,365 (GRCm39)	D250G	probably damaging	Het
Glp1r	T	C	17: 31,143,546 (GRCm39)	V194A	probably damaging	Het
Glt1d1	T	A	5: 127,721,360 (GRCm39)		probably null	Het
Gm7995	A	G	14: 42,133,327 (GRCm39)	K69R	probably benign	Het
Grip1	A	G	10: 119,822,329 (GRCm39)	T379A	possibly damaging	Het
Gtpbp2	G	T	17: 46,479,147 (GRCm39)	A570S	probably benign	Het
Hmcn1	T	C	1: 150,459,029 (GRCm39)	I5192V	probably benign	Het
Igfl3	A	T	7: 17,913,844 (GRCm39)	I65F	possibly damaging	Het
Igsf10	G	T	3: 59,236,992 (GRCm39)	T1063K	probably benign	Het
Itfg1	A	G	8: 86,466,930 (GRCm39)	V381A	probably benign	Het
Itprid1	A	G	6: 55,953,405 (GRCm39)	D907G	probably damaging	Het
Jmjd8	T	A	17: 26,048,086 (GRCm39)	V16E	probably benign	Het
Kank1	A	G	19: 25,387,449 (GRCm39)	Y374C	probably damaging	Het
Kcnma1	C	T	14: 23,386,165 (GRCm39)	V891I	possibly damaging	Het
Kif20a	C	A	18: 34,762,543 (GRCm39)	T472K	possibly damaging	Het
Klhl32	A	T	4: 24,711,578 (GRCm39)		probably benign	Het
Lrrc37a	A	G	11: 103,347,486 (GRCm39)	S3070P	unknown	Het
Mettl21e	T	G	1: 44,249,425 (GRCm39)	Y77S	probably damaging	Het
Mlst8	G	T	17: 24,696,935 (GRCm39)	D82E	probably benign	Het
Mrgprx2	A	T	7: 48,132,617 (GRCm39)	L67Q	probably damaging	Het
Mylk	T	A	16: 34,750,237 (GRCm39)	L1192Q	possibly damaging	Het
Myt1l	A	T	12: 29,882,365 (GRCm39)	Y520F	unknown	Het
Naip2	A	T	13: 100,297,193 (GRCm39)	W948R	probably benign	Het
Nlrp9a	A	C	7: 26,250,311 (GRCm39)	K25N	probably damaging	Het
Nsd3	T	C	8: 26,204,212 (GRCm39)	C414R	probably damaging	Het
Oit3	A	T	10: 59,274,374 (GRCm39)	V142D	possibly damaging	Het
Or2aj6	C	T	16: 19,443,194 (GRCm39)	V219M	probably benign	Het
P2ry6	T	C	7: 100,587,580 (GRCm39)	T260A	probably damaging	Het
Papola	A	G	12: 105,771,196 (GRCm39)	Q87R	probably benign	Het
Pla2g4a	T	A	1: 149,727,086 (GRCm39)	R557*	probably null	Het
Rgs13	G	T	1: 144,016,576 (GRCm39)	H56N	probably damaging	Het
Sbf1	T	C	15: 89,189,111 (GRCm39)	S537G	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Spata31h1	A	T	10: 82,125,138 (GRCm39)	L2624Q	possibly damaging	Het
Stam2	T	C	2: 52,610,954 (GRCm39)	T23A	probably benign	Het
Tbl1xr1	C	A	3: 22,258,141 (GRCm39)	H467Q	probably damaging	Het
Tmem131l	A	G	3: 83,820,587 (GRCm39)	S1222P	possibly damaging	Het
Tmem43	G	T	6: 91,455,759 (GRCm39)	Q123H	probably damaging	Het
Tmem43	T	A	6: 91,463,862 (GRCm39)	I379N	possibly damaging	Het
Trim43c	A	T	9: 88,727,003 (GRCm39)	I277F	possibly damaging	Het
Ttn	A	G	2: 76,703,211 (GRCm39)		probably benign	Het
Vmn1r75	T	A	7: 11,615,003 (GRCm39)	V245D	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vps53	A	T	11: 75,967,881 (GRCm39)	M414K	probably benign	Het
Wrn	T	G	8: 33,809,248 (GRCm39)	L249F	probably benign	Het
Zc3h13	TGATGTCCGGGATGTCCGGGATGTCCGGGATGTCCGGGATGT	TGATGTCCGGGATGTCCGGGATGTCCGGGATGT	14: 75,560,998 (GRCm39)		probably benign	Het
Zfp454	T	C	11: 50,764,950 (GRCm39)	N161D	probably benign	Het
Zfp619	G	A	7: 39,183,586 (GRCm39)	G60R	probably benign	Het
Zfp623	T	A	15: 75,820,308 (GRCm39)	H421Q	probably damaging	Het
Zfp827	A	G	8: 79,916,606 (GRCm39)		probably benign	Het

Other mutations in Atxn7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Atxn7	APN	14	14,096,324 (GRCm38)	splice site	probably benign
IGL00782:Atxn7	APN	14	14,096,218 (GRCm38)	missense	possibly damaging	0.78
IGL01405:Atxn7	APN	14	14,100,105 (GRCm38)	missense	probably benign	0.00
IGL02828:Atxn7	APN	14	14,090,056 (GRCm38)	missense	probably damaging	1.00
IGL03119:Atxn7	APN	14	14,100,734 (GRCm38)	missense	probably damaging	1.00
IGL03139:Atxn7	APN	14	14,052,994 (GRCm38)	missense	probably damaging	0.97
IGL03282:Atxn7	APN	14	14,100,564 (GRCm38)	missense	probably damaging	0.99
IGL03387:Atxn7	APN	14	14,087,273 (GRCm38)	splice site	probably benign
Estes_park	UTSW	14	14,096,317 (GRCm38)	critical splice donor site	probably null
Lumpy	UTSW	14	14,089,446 (GRCm38)	nonsense	probably null
Oestes_park	UTSW	14	14,096,268 (GRCm38)	nonsense	probably null
R0034:Atxn7	UTSW	14	14,100,846 (GRCm38)	missense	probably damaging	0.96
R0408:Atxn7	UTSW	14	14,100,317 (GRCm38)	missense	probably damaging	1.00
R0853:Atxn7	UTSW	14	14,089,465 (GRCm38)	splice site	probably benign
R1169:Atxn7	UTSW	14	14,095,468 (GRCm38)	missense	possibly damaging	0.81
R1678:Atxn7	UTSW	14	14,096,239 (GRCm38)	missense	probably damaging	1.00
R1802:Atxn7	UTSW	14	14,089,419 (GRCm38)	missense	probably benign	0.25
R2078:Atxn7	UTSW	14	14,052,975 (GRCm38)	missense	probably damaging	0.99
R2275:Atxn7	UTSW	14	14,013,268 (GRCm38)	missense	possibly damaging	0.85
R2394:Atxn7	UTSW	14	14,100,237 (GRCm38)	missense	probably damaging	1.00
R4118:Atxn7	UTSW	14	14,100,308 (GRCm38)	missense	probably benign	0.00
R4230:Atxn7	UTSW	14	14,100,381 (GRCm38)	missense	probably benign	0.00
R4588:Atxn7	UTSW	14	14,096,268 (GRCm38)	nonsense	probably null
R4688:Atxn7	UTSW	14	14,089,288 (GRCm38)	missense	probably benign	0.00
R4935:Atxn7	UTSW	14	14,100,401 (GRCm38)	missense	probably benign
R5041:Atxn7	UTSW	14	14,096,317 (GRCm38)	critical splice donor site	probably null
R5185:Atxn7	UTSW	14	14,090,063 (GRCm38)	missense	probably benign	0.04
R5561:Atxn7	UTSW	14	14,089,260 (GRCm38)	missense	probably benign	0.19
R5641:Atxn7	UTSW	14	14,013,638 (GRCm38)	missense	probably damaging	0.99
R6549:Atxn7	UTSW	14	14,013,087 (GRCm38)	missense	probably damaging	0.99
R6623:Atxn7	UTSW	14	14,099,972 (GRCm38)	missense	probably damaging	1.00
R6950:Atxn7	UTSW	14	14,095,511 (GRCm38)	missense	probably damaging	1.00
R7054:Atxn7	UTSW	14	14,100,878 (GRCm38)	missense	probably benign	0.08
R7402:Atxn7	UTSW	14	14,095,427 (GRCm38)	missense	probably damaging	0.98
R7762:Atxn7	UTSW	14	14,100,467 (GRCm38)	missense	probably damaging	1.00
R8432:Atxn7	UTSW	14	14,013,635 (GRCm38)	missense	probably benign	0.06
R8786:Atxn7	UTSW	14	14,103,316 (GRCm38)	missense	possibly damaging	0.78
R9238:Atxn7	UTSW	14	14,089,441 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAAATCCACAGTGGGGC -3'
(R):5'- AGTGTGCTCTTTAAAACCACAAGAC -3'

Sequencing Primer
(F):5'- CCAGCCTGTCCTGCTACTATGAG -3'
(R):5'- AAGGTTCCATGCCCCAGTATAGG -3'

Posted On

2018-06-06