Mutagenetix > Incidental Mutation

Incidental Mutation 'R4903:Atn1'

377939

Institutional Source

Beutler Lab

Gene Symbol

Atn1

Ensembl Gene

ENSMUSG00000004263

Gene Name

atrophin 1

Synonyms

atrophin-1, Atr1, Drpla

MMRRC Submission

042506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124719507-124733450 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to C at 124720220 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] [ENSMUST00000171549] [ENSMUST00000174265]

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: P1156R

SMART Domains

Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263
AA Change: P1156R

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: P1156R

SMART Domains

Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478
AA Change: P1156R

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: ENSMUST00000140423

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158458

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: 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

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abca9	A	G	11: 110,037,827 (GRCm39)	Y508H	probably damaging	Het
Abcc9	A	T	6: 142,546,691 (GRCm39)	L1347H	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Agbl2	A	G	2: 90,627,817 (GRCm39)	I207M	possibly damaging	Het
Akna	C	A	4: 63,292,274 (GRCm39)	R1130S	probably damaging	Het
Alg12	A	T	15: 88,698,743 (GRCm39)	I194N	probably damaging	Het
Alk	T	A	17: 72,176,558 (GRCm39)	H1582L	probably damaging	Het
Carhsp1	T	C	16: 8,478,864 (GRCm39)	T130A	probably damaging	Het
Chrna3	T	C	9: 54,922,810 (GRCm39)	T333A	probably benign	Het
Ctsr	T	A	13: 61,310,945 (GRCm39)	I34L	probably benign	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Dars2	G	C	1: 160,878,941 (GRCm39)	P362R	probably benign	Het
Dnah10	A	G	5: 124,894,812 (GRCm39)	E3459G	probably damaging	Het
Dus2	G	A	8: 106,771,437 (GRCm39)	D188N	probably benign	Het
Ece2	C	T	16: 20,449,972 (GRCm39)	R189*	probably null	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Egr2	T	A	10: 67,374,163 (GRCm39)	I51N	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Gm11564	A	C	11: 99,705,858 (GRCm39)	C191G	unknown	Het
Gpatch8	A	G	11: 102,370,959 (GRCm39)	S860P	unknown	Het
Gprin1	C	G	13: 54,885,742 (GRCm39)	W844S	probably damaging	Het
Hhipl2	T	A	1: 183,207,698 (GRCm39)	Y252*	probably null	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hrg	A	G	16: 22,779,901 (GRCm39)		probably benign	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Jak2	A	G	19: 29,252,436 (GRCm39)	S129G	probably benign	Het
Kif1a	C	T	1: 92,949,456 (GRCm39)	E1579K	probably damaging	Het
Lhcgr	A	T	17: 89,049,789 (GRCm39)	I579N	probably damaging	Het
Lrig3	A	T	10: 125,832,482 (GRCm39)		probably null	Het
Man2c1	C	A	9: 57,046,240 (GRCm39)	Q465K	probably benign	Het
Map3k5	T	A	10: 19,994,235 (GRCm39)	L1043Q	probably null	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mapk8ip3	A	G	17: 25,120,183 (GRCm39)	S946P	probably benign	Het
Mrpl50	T	C	4: 49,514,488 (GRCm39)	Y61C	probably damaging	Het
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Nek11	T	C	9: 105,191,921 (GRCm39)	K163R	possibly damaging	Het
Or1l4b	A	T	2: 37,036,383 (GRCm39)	H53L	probably benign	Het
Or4c105	A	T	2: 88,648,342 (GRCm39)	I276L	probably benign	Het
Pcdhga9	C	A	18: 37,872,058 (GRCm39)	T629K	probably damaging	Het
Pglyrp1	A	G	7: 18,624,128 (GRCm39)	N137S	probably benign	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pitpnm2	T	A	5: 124,290,668 (GRCm39)	Y6F	probably damaging	Het
Pkd1	T	G	17: 24,790,976 (GRCm39)	V1057G	probably benign	Het
Plcb3	C	A	19: 6,933,211 (GRCm39)	R970L	probably damaging	Het
Plekha5	T	A	6: 140,532,093 (GRCm39)	M586K	probably damaging	Het
Ppp4r4	T	A	12: 103,557,030 (GRCm39)		probably null	Het
Rasal3	C	T	17: 32,616,357 (GRCm39)	C278Y	probably damaging	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Sema3d	A	G	5: 12,613,125 (GRCm39)	K401E	probably benign	Het
Sema7a	T	C	9: 57,862,378 (GRCm39)	Y194H	probably benign	Het
Senp5	A	T	16: 31,802,117 (GRCm39)	Y585N	probably damaging	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Shbg	C	T	11: 69,505,912 (GRCm39)	S365N	probably benign	Het
Slc39a6	A	T	18: 24,730,925 (GRCm39)	S65T	probably damaging	Het
Stk3	T	C	15: 34,959,212 (GRCm39)	E320G	probably damaging	Het
Syk	T	A	13: 52,765,117 (GRCm39)	H81Q	probably damaging	Het
Tet1	A	G	10: 62,658,437 (GRCm39)	W1470R	probably damaging	Het
Thada	C	A	17: 84,559,828 (GRCm39)	V1450L	possibly damaging	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trdv1	T	A	14: 54,119,375 (GRCm39)		probably benign	Het
Trim40	T	C	17: 37,194,117 (GRCm39)	E192G	possibly damaging	Het
Trip11	A	T	12: 101,853,065 (GRCm39)		probably null	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Tshr	A	G	12: 91,367,962 (GRCm39)	D35G	probably benign	Het
Tssc4	T	C	7: 142,624,322 (GRCm39)	V210A	probably damaging	Het
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl4a	T	C	18: 80,250,493 (GRCm39)	F30L	probably damaging	Het
Ubac2	G	T	14: 122,231,650 (GRCm39)	C192F	probably benign	Het
Vmn1r12	A	G	6: 57,136,502 (GRCm39)	T156A	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,578 (GRCm39)	T175S	probably benign	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
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'- TCTACAGCGGCTTGTCACTC -3'
(R):5'- TCCTCTGTCTGTCTGGAACG -3'

Sequencing Primer
(F):5'- CTCCTTCTTCAGGTGACTAGATAAG -3'
(R):5'- AACGTTGGCTGACTGTCC -3'

Posted On

2016-04-15