Mutagenetix > Incidental Mutation

Incidental Mutation 'R0385:Atn1'

31218

Institutional Source

Beutler Lab

Gene Symbol

Atn1

Ensembl Gene

ENSMUSG00000004263

Gene Name

atrophin 1

Synonyms

atrophin-1, Atr1, Drpla

MMRRC Submission

038591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124719507-124733450 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 124720334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000004389] [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000146872] [ENSMUST00000174265] [ENSMUST00000171549]

AlphaFold

O35126

Predicted Effect

probably benign
Transcript: ENSMUST00000004377

SMART Domains

Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	4	87	1.43e-28	SMART
SH2	110	202	1.45e-29	SMART
PTPc	245	519	7.51e-131	SMART
low complexity region	571	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000004389

SMART Domains

Protein: ENSMUSP00000004389
Gene: ENSMUSG00000072772

Domain	Start	End	E-Value	Type
Pfam:DUF4511	11	113	5e-43	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000088357
AA Change: P1118Q

SMART Domains

Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: P1118Q

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: P1118Q

SMART Domains

Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: P1118Q

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: ENSMUST00000129823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140423

Predicted Effect

probably benign
Transcript: ENSMUST00000146872

SMART Domains

Protein: ENSMUSP00000123560
Gene: ENSMUSG00000004263

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174265

SMART Domains

Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
Pfam:SH2	1	40	3.5e-6	PFAM
SH2	69	161	1.45e-29	SMART
PTPc	204	478	7.51e-131	SMART
low complexity region	530	540	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171549

SMART Domains

Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266

Domain	Start	End	E-Value	Type
SH2	4	87	1.43e-28	SMART
SH2	110	202	1.45e-29	SMART
PTPc	245	519	7.51e-131	SMART
low complexity region	571	581	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,122,574 (GRCm39)	N331S	probably benign	Het
Adk	A	G	14: 21,368,142 (GRCm39)	N189S	probably benign	Het
Apc	T	A	18: 34,448,997 (GRCm39)	N1930K	probably damaging	Het
Arhgap28	T	C	17: 68,171,601 (GRCm39)	D391G	probably damaging	Het
C2cd5	T	C	6: 142,987,216 (GRCm39)	E471G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cap2	T	C	13: 46,714,023 (GRCm39)	L34P	probably damaging	Het
Cdc42ep2	T	A	19: 5,968,553 (GRCm39)	M51L	probably benign	Het
Cntn5	C	T	9: 9,972,875 (GRCm39)	A254T	probably damaging	Het
Dicer1	A	T	12: 104,670,433 (GRCm39)	L1044H	probably damaging	Het
Dkk3	A	C	7: 111,757,430 (GRCm39)	M58R	probably damaging	Het
Dpy19l3	G	A	7: 35,452,130 (GRCm39)	R5W	probably damaging	Het
Dsg1c	C	T	18: 20,416,711 (GRCm39)	P871S	probably damaging	Het
Dusp1	A	T	17: 26,726,670 (GRCm39)	S131T	probably benign	Het
Enpp2	C	T	15: 54,745,555 (GRCm39)	G314R	probably damaging	Het
Entr1	T	C	2: 26,277,671 (GRCm39)	E41G	possibly damaging	Het
Fam222b	C	A	11: 78,045,756 (GRCm39)	P439Q	probably benign	Het
Fastkd2	A	T	1: 63,776,970 (GRCm39)	I369F	probably benign	Het
Fdps	G	A	3: 89,002,201 (GRCm39)	S205F	probably damaging	Het
Fmo1	A	T	1: 162,663,773 (GRCm39)	V252E	possibly damaging	Het
Frmd5	A	G	2: 121,386,055 (GRCm39)	Y230H	probably damaging	Het
Gal	C	T	19: 3,461,171 (GRCm39)	V88I	probably benign	Het
Gnptab	T	C	10: 88,272,387 (GRCm39)	I1009T	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klhdc7a	A	T	4: 139,694,016 (GRCm39)	D310E	probably benign	Het
Klk4	T	C	7: 43,533,432 (GRCm39)	M97T	probably benign	Het
Krt82	C	T	15: 101,454,028 (GRCm39)	V227M	probably damaging	Het
Lpp	T	C	16: 24,580,587 (GRCm39)	V226A	probably damaging	Het
Mbd1	AGCTGACTCGGTAC	A	18: 74,406,312 (GRCm39)		probably null	Het
Mcm10	T	C	2: 5,008,965 (GRCm39)	K335E	possibly damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myb	T	C	10: 21,030,611 (GRCm39)	D62G	possibly damaging	Het
Nasp	A	T	4: 116,467,892 (GRCm39)	N364K	probably benign	Het
Npsr1	A	G	9: 24,224,573 (GRCm39)	N317D	probably damaging	Het
Nup210	A	G	6: 91,005,777 (GRCm39)	V619A	possibly damaging	Het
Oser1	C	T	2: 163,253,316 (GRCm39)		probably null	Het
Pcdhb4	T	C	18: 37,442,268 (GRCm39)	F526S	probably damaging	Het
Plekhh3	T	C	11: 101,055,967 (GRCm39)	N444S	probably damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Pou2f2	G	A	7: 24,815,501 (GRCm39)	Q89*	probably null	Het
Ptprb	A	G	10: 116,186,083 (GRCm39)	I1713V	probably benign	Het
Ptprd	A	G	4: 76,046,902 (GRCm39)	Y442H	probably damaging	Het
Rad21	A	T	15: 51,837,259 (GRCm39)	I152N	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,823 (GRCm39)	S1568P	probably damaging	Het
Rhag	T	A	17: 41,145,618 (GRCm39)	V357E	probably damaging	Het
Rnf121	A	T	7: 101,678,324 (GRCm39)	D174E	possibly damaging	Het
Sf3b4	T	C	3: 96,080,298 (GRCm39)	Y16H	probably damaging	Het
Slc1a3	C	T	15: 8,668,619 (GRCm39)	V449I	probably damaging	Het
Slc20a2	A	G	8: 23,058,409 (GRCm39)	I648M	probably benign	Het
Slc25a25	T	A	2: 32,307,834 (GRCm39)	I254F	probably damaging	Het
Slit3	A	G	11: 35,591,109 (GRCm39)	H1307R	probably damaging	Het
Sorl1	C	A	9: 41,943,205 (GRCm39)	M890I	probably damaging	Het
Supt16	A	C	14: 52,414,175 (GRCm39)	M468R	probably benign	Het
Taf4b	T	C	18: 14,916,817 (GRCm39)	S56P	probably benign	Het
Tapt1	T	C	5: 44,375,443 (GRCm39)		probably null	Het
Tmco3	T	G	8: 13,346,027 (GRCm39)	C288W	probably damaging	Het
Tpcn2	A	G	7: 144,830,911 (GRCm39)	Y145H	probably damaging	Het
Ttn	C	T	2: 76,712,061 (GRCm39)		probably benign	Het
Usb1	G	T	8: 96,071,946 (GRCm39)	W215C	probably damaging	Het
Usp2	C	G	9: 44,004,047 (GRCm39)	T305R	probably damaging	Het
Vmn1r13	G	A	6: 57,187,690 (GRCm39)	S283N	probably benign	Het
Vps54	A	G	11: 21,256,381 (GRCm39)	K467E	possibly damaging	Het
Wnk2	G	T	13: 49,221,604 (GRCm39)	S1121Y	probably damaging	Het
Zbed6	A	T	1: 133,584,522 (GRCm39)	D938E	probably damaging	Het

Other mutations in Atn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Atn1	APN	6	124,726,239 (GRCm39)	missense	probably damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGACCTGGTCCAAGATACTGTG -3'
(R):5'- TCCCTTCTAAAGGAGCCTCAAGAGC -3'

Sequencing Primer
(F):5'- TCCTCCAAGGTCTGGATGAAG -3'
(R):5'- AAGAGCTAGGGCTCGTTCC -3'

Posted On

2013-04-24