Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Atxn7'

188301

Institutional Source

Beutler Lab

Gene Symbol

Atxn7

Ensembl Gene

ENSMUSG00000021738

Gene Name

ataxin 7

Synonyms

Sca7, A430107N12Rik, ataxin-7

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8362461-8508323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14096239 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 515 (F515L)

Ref Sequence

ENSEMBL: ENSMUSP00000152934 (fasta)

Gene Model

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

AlphaFold

Q8R4I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022257
AA Change: F515L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022257
Gene: ENSMUSG00000021738
AA Change: F515L

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 damaging
Transcript: ENSMUST00000223714
AA Change: F515L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223880
AA Change: F515L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223932

Predicted Effect

unknown
Transcript: ENSMUST00000224315
AA Change: F34L

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,554,594 (GRCm39)	I120S	probably benign	Het
Abcb5	A	C	12: 118,929,064 (GRCm39)		probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568 (GRCm39)	Y270F	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ankib1	A	G	5: 3,756,301 (GRCm39)	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,764,892 (GRCm39)		probably null	Het
Asb17	C	T	3: 153,550,004 (GRCm39)	S12F	probably damaging	Het
Atad2b	G	A	12: 5,015,899 (GRCm39)	V542I	possibly damaging	Het
Bicc1	A	G	10: 70,779,348 (GRCm39)	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,750,562 (GRCm39)	R351H	probably damaging	Het
C4b	A	G	17: 34,962,624 (GRCm39)	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802 (GRCm38)		probably null	Het
Capza1	G	T	3: 104,771,669 (GRCm39)	S9*	probably null	Het
Ccl11	C	T	11: 81,948,866 (GRCm39)	P25L	probably damaging	Het
Cdyl	A	T	13: 36,040,872 (GRCm39)	K306N	probably damaging	Het
Cnga3	T	C	1: 37,300,579 (GRCm39)	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,464,380 (GRCm39)	K983E	unknown	Het
Cp	A	C	3: 20,026,881 (GRCm39)	K436N	probably damaging	Het
Csmd1	T	A	8: 15,968,252 (GRCm39)	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,161,087 (GRCm39)	N143I	probably damaging	Het
Dmd	T	A	X: 84,018,368 (GRCm39)	I3067N	probably benign	Het
Dnaaf9	A	G	2: 130,656,193 (GRCm39)	V105A	probably damaging	Het
Dnah11	T	G	12: 117,897,580 (GRCm39)	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,378,828 (GRCm39)	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,632,096 (GRCm39)		probably null	Het
Dync2i1	A	G	12: 116,189,590 (GRCm39)	S640P	probably damaging	Het
Efemp1	G	A	11: 28,866,942 (GRCm39)	E325K	probably benign	Het
Enox1	A	G	14: 77,815,096 (GRCm39)	T85A	probably benign	Het
Faim2	C	A	15: 99,418,217 (GRCm39)	V123F	possibly damaging	Het
Fgfr2	T	C	7: 129,830,350 (GRCm39)		probably null	Het
Fign	T	C	2: 63,810,718 (GRCm39)	E184G	probably damaging	Het
Fnd3c2	T	C	X: 105,281,305 (GRCm39)	T799A	probably benign	Het
Frem2	T	C	3: 53,427,359 (GRCm39)	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,816,689 (GRCm39)	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,344,705 (GRCm39)	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867 (GRCm39)	V139M	probably damaging	Het
Gpr83	G	T	9: 14,778,145 (GRCm39)	V172F	probably damaging	Het
Itprid1	G	T	6: 55,945,499 (GRCm39)	C740F	probably benign	Het
Jmjd4	A	G	11: 59,344,438 (GRCm39)	Y179C	probably damaging	Het
Kcnq3	A	G	15: 65,903,281 (GRCm39)	L143P	probably damaging	Het
Klhl41	T	C	2: 69,501,283 (GRCm39)	V248A	probably benign	Het
Lama1	T	C	17: 68,117,150 (GRCm39)	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,360,885 (GRCm39)		probably null	Het
Lclat1	G	A	17: 73,503,715 (GRCm39)	G162R	probably damaging	Het
Map6	T	C	7: 98,917,305 (GRCm39)	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050 (GRCm39)	D107V	probably damaging	Het
Metap1d	T	A	2: 71,355,121 (GRCm39)	V304D	possibly damaging	Het
Naca	A	G	10: 127,879,395 (GRCm39)		probably benign	Het
Napg	T	C	18: 63,117,143 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,299,493 (GRCm39)	F7L	probably benign	Het
Ndst2	T	C	14: 20,774,582 (GRCm39)	T825A	probably benign	Het
Nsun2	T	C	13: 69,775,222 (GRCm39)	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,327,036 (GRCm39)	I87F	probably damaging	Het
Nxf3	T	C	X: 134,976,270 (GRCm39)	D407G	probably damaging	Het
Or51f2	T	A	7: 102,526,870 (GRCm39)	V181E	probably damaging	Het
Or8c13	A	T	9: 38,091,933 (GRCm39)	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,313,193 (GRCm39)		probably null	Het
P2rx3	T	C	2: 84,852,811 (GRCm39)	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb9	A	T	18: 37,534,682 (GRCm39)	K225N	probably damaging	Het
Plch1	A	G	3: 63,648,115 (GRCm39)	S419P	probably damaging	Het
Prex2	T	G	1: 11,355,313 (GRCm39)	I1538S	possibly damaging	Het
Prss59	C	A	6: 40,906,453 (GRCm39)		probably benign	Het
Rasl10a	A	G	11: 5,009,815 (GRCm39)	E121G	possibly damaging	Het
Rbbp8	A	G	18: 11,865,372 (GRCm39)	T754A	probably benign	Het
Rictor	T	C	15: 6,785,952 (GRCm39)	V156A	probably benign	Het
Ryr1	A	T	7: 28,815,579 (GRCm39)	Y104N	probably damaging	Het
Sctr	G	T	1: 119,964,169 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,800,525 (GRCm39)	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,196,358 (GRCm39)	R384W	probably damaging	Het
Srcin1	C	A	11: 97,409,470 (GRCm39)	R1163L	probably damaging	Het
Srp72	A	G	5: 77,128,154 (GRCm39)	Y125C	probably damaging	Het
Srrm2	T	C	17: 24,037,960 (GRCm39)	S1535P	probably benign	Het
Sumf2	A	G	5: 129,883,557 (GRCm39)	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,192,490 (GRCm39)	I77F	probably benign	Het
Tcerg1	T	C	18: 42,657,414 (GRCm39)	S299P	unknown	Het
Tcp1	T	A	17: 13,139,310 (GRCm39)	N212K	probably benign	Het
Ttc7	G	T	17: 87,669,329 (GRCm39)	G659C	probably damaging	Het
Ttn	A	T	2: 76,691,903 (GRCm39)		probably null	Het
Ubtf	A	T	11: 102,199,804 (GRCm39)	D440E	probably benign	Het
Usp30	A	G	5: 114,259,207 (GRCm39)	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r58	G	A	7: 41,513,480 (GRCm39)	H388Y	probably benign	Het
Zbtb49	T	C	5: 38,371,038 (GRCm39)	D281G	probably damaging	Het
Zfp248	A	G	6: 118,406,765 (GRCm39)	S174P	probably benign	Het
Zswim9	T	C	7: 13,011,337 (GRCm39)	T4A	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
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
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'- TCTTTTCCCCAAAACTGTCGCAGG -3'
(R):5'- AGCCAATGCCGTTTCCCATGTAG -3'

Sequencing Primer
(F):5'- AAACTGTCGCAGGCACTG -3'
(R):5'- TGCCGTTTCCCATGTAGATAAG -3'

Posted On

2014-05-09