Mutagenetix > Incidental Mutations

Incidental Mutation 'R1295:Atn1'

158058

Institutional Source

Beutler Lab

Gene Symbol

Atn1

Ensembl Gene

ENSMUSG00000004263

Gene Name

atrophin 1

Synonyms

atrophin-1, Drpla, Atr1

MMRRC Submission

039361-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1295 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

124742544-124756524 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124747787 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 161 (P161Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123560 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000146872]

Predicted Effect

unknown
Transcript: ENSMUST00000088357
AA Change: P161Q

SMART Domains

Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: P161Q

Domain	Start	End	E-Value	Type
Pfam:Atrophin-1	1	191	7.9e-30	PFAM
low complexity region	209	218	N/A	INTRINSIC
low complexity region	231	253	N/A	INTRINSIC
low complexity region	256	297	N/A	INTRINSIC
low complexity region	301	317	N/A	INTRINSIC
low complexity region	351	372	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
Pfam:Atrophin-1	405	1174	4.6e-209	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000129411
AA Change: P161Q

SMART Domains

Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: P161Q

Domain	Start	End	E-Value	Type
Pfam:Atrophin-1	1	164	3.8e-33	PFAM
low complexity region	209	218	N/A	INTRINSIC
low complexity region	231	253	N/A	INTRINSIC
low complexity region	256	297	N/A	INTRINSIC
low complexity region	301	317	N/A	INTRINSIC
Pfam:Atrophin-1	327	1175	1.7e-192	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133577

Predicted Effect

unknown
Transcript: ENSMUST00000146872
AA Change: P161Q

SMART Domains

Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263
AA Change: P161Q

Domain	Start	End	E-Value	Type
Pfam:Atrophin-1	1	182	2.6e-36	PFAM

Meta Mutation Damage Score

0.1460

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice are viable and fertile, however mice expressing a truncated protein lacking the poly-Q repeat and C-terminal peptides display growth retardation, progressive male infertility with small testis and low sperm counts, and consume less food. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,908,717	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,550,039	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,248,624	T102M	probably damaging	Het
Akap6	A	C	12: 52,887,029	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,546,950		probably null	Het
Amfr	T	C	8: 93,974,804	R507G	probably benign	Het
Ap1m1	T	A	8: 72,251,875		probably null	Het
Arhgap29	A	G	3: 121,992,395	H275R	probably benign	Het
Arhgef17	C	A	7: 100,881,269	E428*	probably null	Het
Atm	A	T	9: 53,456,530	V2431E	probably damaging	Het
Atp13a2	T	C	4: 140,993,802	S99P	probably damaging	Het
Ccar1	C	A	10: 62,783,882		probably null	Het
Cdk18	T	C	1: 132,119,960		probably benign	Het
Cep85	A	G	4: 134,167,400	W32R	probably damaging	Het
Col5a3	A	G	9: 20,808,418	F215S	unknown	Het
Decr1	T	C	4: 15,919,207	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,007,399	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752		probably benign	Het
Ehd3	C	A	17: 73,828,186	D352E	probably damaging	Het
Enpp6	T	G	8: 47,065,500	I221S	probably benign	Het
Fam186a	T	C	15: 99,939,789		probably benign	Het
Gm5435	G	T	12: 82,495,784		noncoding transcript	Het
Gm6990	T	A	19: 56,755,334		noncoding transcript	Het
Gpr22	A	C	12: 31,709,514	I203S	probably benign	Het
Gpr61	A	G	3: 108,150,481	V288A	possibly damaging	Het
Grik3	G	A	4: 125,704,564		probably benign	Het
Gstcd	T	C	3: 133,005,628	N431D	probably damaging	Het
Haao	T	A	17: 83,838,838	Q69L	probably benign	Het
Hist1h1b	T	C	13: 21,779,999	S186G	probably benign	Het
Ift140	G	T	17: 25,088,933		probably null	Het
Ikbke	A	G	1: 131,270,226	V381A	probably benign	Het
Ing1	A	C	8: 11,561,501	I38L	probably benign	Het
Ing1	T	A	8: 11,561,502	I38N	probably damaging	Het
Itga4	A	G	2: 79,322,689	M907V	possibly damaging	Het
Kcnk12	C	T	17: 87,746,373	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,502,404	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,910,359	Y122C	probably damaging	Het
Mslnl	T	C	17: 25,743,240	L204P	probably damaging	Het
Muc6	T	C	7: 141,651,879	E112G	probably benign	Het
Nav3	T	A	10: 109,692,102	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,566,693	T9A	probably damaging	Het
Numb	C	A	12: 83,796,161		probably benign	Het
Prodh2	T	C	7: 30,494,089	V79A	probably damaging	Het
Psmb2	A	G	4: 126,687,032	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,398,455	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,101	Y604*	probably null	Het
Ros1	T	A	10: 52,087,932	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 119,036,927	F219L	probably benign	Het
Sall2	T	C	14: 52,313,725	N671S	probably damaging	Het
Sele	T	A	1: 164,050,810	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,130,879	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,794,636	S594T	probably benign	Het
Sufu	G	A	19: 46,454,720		probably benign	Het
Tbx2	A	G	11: 85,834,766	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,055,888	V50A	probably damaging	Het
Tmem56	A	G	3: 121,207,291	V231A	probably benign	Het
Ttn	C	A	2: 76,743,245	R17441L	probably damaging	Het
Usp34	A	G	11: 23,384,477	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,071,537	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,538,273	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,389,139	A501T	probably benign	Het
Wapl	C	T	14: 34,724,769	P605S	probably damaging	Het
Zfp598	A	G	17: 24,679,649	N474S	probably benign	Het
Zfyve26	A	G	12: 79,274,920	L975P	probably damaging	Het
Zp3r	C	T	1: 130,591,444	G255D	probably damaging	Het

Other mutations in Atn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Atn1	APN	6	124749276	missense	probably damaging	0.96
Janvier	UTSW	6	124744956	unclassified	probably benign
R0122:Atn1	UTSW	6	124743234	unclassified	probably benign
R0227:Atn1	UTSW	6	124746930	unclassified	probably benign
R0385:Atn1	UTSW	6	124743371	unclassified	probably benign
R0394:Atn1	UTSW	6	124749733	splice site	probably benign
R0834:Atn1	UTSW	6	124743225	unclassified	probably benign
R1296:Atn1	UTSW	6	124747787	missense	unknown
R1865:Atn1	UTSW	6	124745296	unclassified	probably benign
R1992:Atn1	UTSW	6	124745328	unclassified	probably benign
R2268:Atn1	UTSW	6	124746240	unclassified	probably benign
R3826:Atn1	UTSW	6	124746219	unclassified	probably benign
R4903:Atn1	UTSW	6	124743257	unclassified	probably benign
R5601:Atn1	UTSW	6	124743228	critical splice donor site	probably null
R5680:Atn1	UTSW	6	124747815	missense	possibly damaging	0.92
R6167:Atn1	UTSW	6	124746737	unclassified	probably benign
R6314:Atn1	UTSW	6	124747050	unclassified	probably benign
R6427:Atn1	UTSW	6	124746176	unclassified	probably benign
R6538:Atn1	UTSW	6	124746549	unclassified	probably benign
R6606:Atn1	UTSW	6	124744956	unclassified	probably benign
R7240:Atn1	UTSW	6	124747898	missense	unknown
R8090:Atn1	UTSW	6	124745341	missense	unknown
Z1177:Atn1	UTSW	6	124745035	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGCATTCCCAGGGTAGAGCTGTG -3'
(R):5'- ACTATTAGGGAGCAGCCGAGATGTG -3'

Sequencing Primer
(F):5'- GGGTGTGTGGGAGGAGC -3'
(R):5'- ATTTTCCCTGACAGCAGGAGC -3'

Posted On

2014-02-18