Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Atxn7'

242753

Institutional Source

Beutler Lab

Gene Symbol

Atxn7

Ensembl Gene

ENSMUSG00000021738

Gene Name

ataxin 7

Synonyms

Sca7, A430107N12Rik, ataxin-7

MMRRC Submission

040274-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2275 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

8362461-8508323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14013268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 62 (M62K)

Ref Sequence

ENSEMBL: ENSMUSP00000153613 (fasta)

Gene Model

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

AlphaFold

Q8R4I1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022257
AA Change: M62K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: M62K

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

possibly damaging
Transcript: ENSMUST00000223714
AA Change: M62K

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223880
AA Change: M62K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225164

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226073

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Aco2	C	T	15: 81,779,465 (GRCm39)	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Adgrb2	G	A	4: 129,900,647 (GRCm39)	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
C87436	G	A	6: 86,422,582 (GRCm39)	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,532,640 (GRCm39)	S701P	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfap276	A	G	3: 108,449,819 (GRCm39)	N33D	possibly damaging	Het
Col12a1	A	T	9: 79,542,709 (GRCm39)	V2352E	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csad	G	T	15: 102,095,557 (GRCm39)	R167S	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Ehmt2	T	A	17: 35,129,691 (GRCm39)	N951K	possibly damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,761,190 (GRCm39)	Y221D	probably damaging	Het
Exoc3l	A	T	8: 106,017,079 (GRCm39)		probably null	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Faiml	T	C	9: 99,111,612 (GRCm39)	Y149C	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Glg1	A	T	8: 111,895,353 (GRCm39)	Y819*	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gm28042	A	C	2: 119,867,310 (GRCm39)	Q465P	probably damaging	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
Knl1	C	A	2: 118,902,762 (GRCm39)	Q1488K	probably damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mypn	A	G	10: 62,966,848 (GRCm39)	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,109,873 (GRCm39)	F324S	probably damaging	Het
Ntrk2	T	A	13: 59,009,165 (GRCm39)	Y319N	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Parg	A	G	14: 32,017,195 (GRCm39)	D384G	probably damaging	Het
Pde7b	T	A	10: 20,276,165 (GRCm39)	*460L	probably null	Het
Pigr	G	T	1: 130,774,207 (GRCm39)	V396L	probably benign	Het
Pkhd1	A	G	1: 20,271,073 (GRCm39)	I3160T	possibly damaging	Het
Ppl	T	C	16: 4,912,416 (GRCm39)	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,342,713 (GRCm39)	E781G	possibly damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260 (GRCm39)	R522H	probably damaging	Het
Senp7	T	C	16: 56,005,146 (GRCm39)	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,855,411 (GRCm39)	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Slco4a1	T	C	2: 180,106,529 (GRCm39)	L237P	possibly damaging	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Tia1	A	G	6: 86,404,659 (GRCm39)	N298S	probably benign	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Ttc6	G	A	12: 57,749,084 (GRCm39)	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,996,807 (GRCm39)	L237P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,023,930 (GRCm39)	R884G	probably benign	Het
Vmn2r60	T	A	7: 41,786,251 (GRCm39)	Y351*	probably null	Het
Zbtb7a	G	A	10: 80,980,831 (GRCm39)	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 74,121,871 (GRCm39)	N127K	probably damaging	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
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
R6490:Atxn7	UTSW	14	14,089,446 (GRCm38)	nonsense	probably null
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'- TTTGTTACATTGTAGGAGCGGAAAG -3'
(R):5'- GAAGATAGCATCTCTGACCCC -3'

Sequencing Primer
(F):5'- TACATTGTAGGAGCGGAAAGAATGTC -3'
(R):5'- ATCTCTGACCCCCGTGG -3'

Posted On

2014-10-16