Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Atn1'

73038

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atn1

Ensembl Gene

ENSMUSG00000004263

Gene Name

atrophin 1

Synonyms

atrophin-1, Atr1, Drpla

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

124719507-124733450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124726239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 80 (E80G)

Ref Sequence

ENSEMBL: ENSMUSP00000123560 (fasta)

Gene Model

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

AlphaFold

O35126

Predicted Effect

unknown
Transcript: ENSMUST00000088357
AA Change: E80G

SMART Domains

Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: E80G

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: E80G

SMART Domains

Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: E80G

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

probably damaging
Transcript: ENSMUST00000146872
AA Change: E80G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263
AA Change: E80G

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

Coding Region Coverage

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Nfatc4	T	C	14: 56,069,962 (GRCm39)	V710A	probably benign	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Atn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Janvier	UTSW	6	124,721,919 (GRCm39)	unclassified	probably benign
stunt	UTSW	6	124,722,601 (GRCm39)	critical splice donor site	probably null
R0122:Atn1	UTSW	6	124,720,197 (GRCm39)	unclassified	probably benign
R0227:Atn1	UTSW	6	124,723,893 (GRCm39)	unclassified	probably benign
R0385:Atn1	UTSW	6	124,720,334 (GRCm39)	unclassified	probably benign
R0394:Atn1	UTSW	6	124,726,696 (GRCm39)	splice site	probably benign
R0834:Atn1	UTSW	6	124,720,188 (GRCm39)	unclassified	probably benign
R1295:Atn1	UTSW	6	124,724,750 (GRCm39)	missense	unknown
R1296:Atn1	UTSW	6	124,724,750 (GRCm39)	missense	unknown
R1865:Atn1	UTSW	6	124,722,259 (GRCm39)	unclassified	probably benign
R1992:Atn1	UTSW	6	124,722,291 (GRCm39)	unclassified	probably benign
R2268:Atn1	UTSW	6	124,723,203 (GRCm39)	unclassified	probably benign
R3826:Atn1	UTSW	6	124,723,182 (GRCm39)	unclassified	probably benign
R4903:Atn1	UTSW	6	124,720,220 (GRCm39)	unclassified	probably benign
R5601:Atn1	UTSW	6	124,720,191 (GRCm39)	critical splice donor site	probably null
R5680:Atn1	UTSW	6	124,724,778 (GRCm39)	missense	possibly damaging	0.92
R6167:Atn1	UTSW	6	124,723,700 (GRCm39)	unclassified	probably benign
R6314:Atn1	UTSW	6	124,724,013 (GRCm39)	unclassified	probably benign
R6427:Atn1	UTSW	6	124,723,139 (GRCm39)	unclassified	probably benign
R6538:Atn1	UTSW	6	124,723,512 (GRCm39)	unclassified	probably benign
R6606:Atn1	UTSW	6	124,721,919 (GRCm39)	unclassified	probably benign
R7240:Atn1	UTSW	6	124,724,861 (GRCm39)	missense	unknown
R8090:Atn1	UTSW	6	124,722,304 (GRCm39)	missense	unknown
R8476:Atn1	UTSW	6	124,723,416 (GRCm39)	unclassified	probably benign
R8770:Atn1	UTSW	6	124,722,601 (GRCm39)	critical splice donor site	probably null
R8924:Atn1	UTSW	6	124,722,211 (GRCm39)	missense	probably benign	0.39
R8984:Atn1	UTSW	6	124,723,923 (GRCm39)	missense	unknown
R9018:Atn1	UTSW	6	124,722,661 (GRCm39)	missense	unknown
R9485:Atn1	UTSW	6	124,722,748 (GRCm39)	missense	unknown
Z1177:Atn1	UTSW	6	124,721,998 (GRCm39)	missense	unknown

Posted On

2013-10-07