Mutagenetix > Incidental Mutation

Incidental Mutation 'R8924:Atn1'

679459

Institutional Source

Beutler Lab

Gene Symbol

Atn1

Ensembl Gene

ENSMUSG00000004263

Gene Name

atrophin 1

Synonyms

atrophin-1, Atr1, Drpla

MMRRC Submission

068769-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124719507-124733450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124722211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 881 (S881T)

Ref Sequence

ENSEMBL: ENSMUSP00000085695 (fasta)

Gene Model

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

AlphaFold

O35126

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

probably benign
Transcript: ENSMUST00000088357
AA Change: S881T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: S881T

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

probably benign
Transcript: ENSMUST00000129411
AA Change: S881T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: S881T

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

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

Meta Mutation Damage Score

0.3015

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (88/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,838,003 (GRCm39)	V1145A	probably benign	Het
Ank1	T	C	8: 23,589,011 (GRCm39)	M562T	probably benign	Het
B3galt1	C	T	2: 67,949,059 (GRCm39)	T258I	probably benign	Het
Bahcc1	C	T	11: 120,167,591 (GRCm39)	L1331F	probably benign	Het
Capn12	G	A	7: 28,582,628 (GRCm39)	V168M	probably damaging	Het
Card14	T	C	11: 119,216,930 (GRCm39)	V338A	possibly damaging	Het
Cd27	T	C	6: 125,213,432 (GRCm39)		probably benign	Het
Cd37	A	G	7: 44,888,109 (GRCm39)	L37P	probably damaging	Het
Cd96	A	G	16: 45,919,385 (GRCm39)	L212P	probably damaging	Het
Celsr1	T	C	15: 85,916,671 (GRCm39)	E434G	possibly damaging	Het
Cep152	A	G	2: 125,444,778 (GRCm39)	M456T	possibly damaging	Het
Ces3b	G	A	8: 105,811,619 (GRCm39)	R45H	probably benign	Het
Cfap54	T	G	10: 92,837,685 (GRCm39)	T1072P	probably damaging	Het
Chodl	A	T	16: 78,738,659 (GRCm39)	M172L	possibly damaging	Het
Cilp2	A	G	8: 70,339,108 (GRCm39)	S47P	probably damaging	Het
Clasrp	T	C	7: 19,318,232 (GRCm39)	I596V	unknown	Het
Clcn2	C	T	16: 20,530,930 (GRCm39)	V267I	probably damaging	Het
Cntln	T	A	4: 84,806,936 (GRCm39)	D139E	probably damaging	Het
Cyp2j12	A	C	4: 95,994,685 (GRCm39)	N379K	probably damaging	Het
Defb21	T	C	2: 152,416,704 (GRCm39)	V60A	possibly damaging	Het
Dnajc16	G	T	4: 141,494,018 (GRCm39)	S543*	probably null	Het
Efcab12	G	T	6: 115,800,664 (GRCm39)	H120N	probably benign	Het
Efcab3	AACTCTA	AA	11: 104,806,253 (GRCm39)		probably null	Het
Efl1	G	A	7: 82,412,161 (GRCm39)	G850D	probably benign	Het
Efna1	T	C	3: 89,183,635 (GRCm39)	M64V	probably benign	Het
Eif2ak3	T	C	6: 70,870,003 (GRCm39)	W897R	probably damaging	Het
Eif2ak4	T	A	2: 118,258,513 (GRCm39)	F621Y	probably damaging	Het
Erbin	C	A	13: 103,975,966 (GRCm39)	E643*	probably null	Het
Esr1	G	A	10: 4,807,176 (GRCm39)	W364*	probably null	Het
Fam171a2	T	C	11: 102,330,861 (GRCm39)	E206G	possibly damaging	Het
Fam90a1a	T	C	8: 22,451,429 (GRCm39)	F97L	probably benign	Het
Fap	A	T	2: 62,378,165 (GRCm39)	F181I	probably benign	Het
Fem1b	T	C	9: 62,704,916 (GRCm39)	N115D	probably damaging	Het
Gal3st2b	G	T	1: 93,868,653 (GRCm39)	A295S	probably benign	Het
Galnt10	G	A	11: 57,674,681 (GRCm39)		probably benign	Het
Gcfc2	T	C	6: 81,909,879 (GRCm39)	V224A	probably damaging	Het
Gh	T	C	11: 106,191,634 (GRCm39)	E136G	probably damaging	Het
Gjd3	C	T	11: 98,873,325 (GRCm39)	C173Y	probably damaging	Het
Gm12695	T	A	4: 96,651,046 (GRCm39)	M136L	probably benign	Het
Gnas	A	G	2: 174,141,277 (GRCm39)	E482G	unknown	Het
Gpa33	T	C	1: 165,980,351 (GRCm39)	L138P	probably damaging	Het
Hlf	T	C	11: 90,236,714 (GRCm39)	D181G	probably damaging	Het
Irgm1	A	G	11: 48,756,698 (GRCm39)	L387S	probably benign	Het
Kctd1	T	C	18: 15,102,745 (GRCm39)	E812G	possibly damaging	Het
Klra2	T	C	6: 131,205,214 (GRCm39)	E209G	probably benign	Het
Klra3	C	T	6: 130,312,732 (GRCm39)	V11M	probably benign	Het
Klrh1	G	T	6: 129,745,084 (GRCm39)	H171N	probably benign	Het
Kmt2c	T	C	5: 25,503,885 (GRCm39)	S3808G	probably benign	Het
Krtap24-1	A	C	16: 88,408,888 (GRCm39)	S79R	probably benign	Het
Limch1	T	A	5: 67,190,475 (GRCm39)	H759Q	probably benign	Het
Map3k4	A	G	17: 12,490,433 (GRCm39)	Y333H	probably benign	Het
Mmel1	A	G	4: 154,974,091 (GRCm39)	Y377C	probably damaging	Het
Ms4a14	A	T	19: 11,281,113 (GRCm39)	Y482N	possibly damaging	Het
Myo9b	A	G	8: 71,801,675 (GRCm39)	S1277G	probably benign	Het
Nab1	T	C	1: 52,529,667 (GRCm39)	T77A	possibly damaging	Het
Obsl1	T	C	1: 75,482,841 (GRCm39)	S10G	probably benign	Het
Odc1	A	G	12: 17,598,329 (GRCm39)	T157A	possibly damaging	Het
Or2a5	T	G	6: 42,873,964 (GRCm39)	L193R	probably damaging	Het
Or8b52	T	C	9: 38,576,780 (GRCm39)	D120G	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Plpp1	T	A	13: 112,943,057 (GRCm39)		probably benign	Het
Prdm13	G	A	4: 21,679,125 (GRCm39)	A455V	possibly damaging	Het
Ptpn13	A	T	5: 103,739,101 (GRCm39)	Y2289F	probably damaging	Het
Ptpn18	G	T	1: 34,498,966 (GRCm39)	R21L	probably benign	Het
Ptprd	A	G	4: 75,916,736 (GRCm39)		probably null	Het
Rcn3	G	T	7: 44,733,095 (GRCm39)	D258E	probably damaging	Het
Ro60	C	T	1: 143,641,170 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,895 (GRCm39)	H651Q	probably benign	Het
Sacs	T	C	14: 61,448,702 (GRCm39)	S3583P	probably damaging	Het
Scel	A	G	14: 103,829,807 (GRCm39)	N463S	possibly damaging	Het
Serpinb2	A	T	1: 107,443,284 (GRCm39)	I28F	possibly damaging	Het
Sin3b	A	G	8: 73,473,131 (GRCm39)	K484E	probably benign	Het
Snrnp48	T	A	13: 38,400,397 (GRCm39)	V168D	probably damaging	Het
Snx18	T	G	13: 113,754,931 (GRCm39)	M1L	probably benign	Het
Spata31h1	T	C	10: 82,131,295 (GRCm39)	N572D	probably benign	Het
Srcap	T	A	7: 127,158,204 (GRCm39)	N2693K	unknown	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Stip1	A	T	19: 7,002,687 (GRCm39)	L414H	probably damaging	Het
Sun1	A	G	5: 139,209,390 (GRCm39)	H40R	probably damaging	Het
Sva	T	A	6: 42,019,182 (GRCm39)	D117E	possibly damaging	Het
Syne2	A	G	12: 75,943,444 (GRCm39)	D321G	probably damaging	Het
Trim45	A	G	3: 100,835,394 (GRCm39)	D459G	probably damaging	Het
Ttc6	G	A	12: 57,697,790 (GRCm39)	W43*	probably null	Het
Ugt2b35	A	G	5: 87,152,780 (GRCm39)	T317A	possibly damaging	Het
Usp32	C	T	11: 84,916,370 (GRCm39)	R858Q	probably damaging	Het
Vmn2r53	G	T	7: 12,334,752 (GRCm39)	Q303K	probably benign	Het
Yeats2	T	C	16: 19,969,312 (GRCm39)		probably null	Het
Zfp804a	A	G	2: 82,088,747 (GRCm39)	N859D	probably benign	Het
Zscan10	A	T	17: 23,824,580 (GRCm39)	Q12L	possibly 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
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
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'- GTTCCAGCTCACTAGGTTTCAC -3'
(R):5'- GGTAACTGTGCCCATGTCTG -3'

Sequencing Primer
(F):5'- GGTTTCACCTCAAAGCCAGG -3'
(R):5'- TCTGATTTCTACAGAAACTGGCCCAG -3'

Posted On

2021-08-02