Mutagenetix > Incidental Mutation

Incidental Mutation 'R7301:Atxn2l'

566982

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2lp, A2D, A2RP, A2LG

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R7301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126491708-126503437 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 126494211 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 791 (Y791*)

Ref Sequence

ENSEMBL: ENSMUSP00000035415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000098048] [ENSMUST00000106392] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000179818] [ENSMUST00000206055] [ENSMUST00000206265] [ENSMUST00000206572] [ENSMUST00000206577]

AlphaFold

Q7TQH0

Predicted Effect

probably null
Transcript: ENSMUST00000040202
AA Change: Y791*

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: Y791*

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	36	54	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC
Pfam:SM-ATX	119	189	8.5e-21	PFAM
LsmAD	262	331	1.95e-28	SMART
low complexity region	357	382	N/A	INTRINSIC
low complexity region	450	470	N/A	INTRINSIC
Pfam:PAM2	657	672	5.6e-8	PFAM
low complexity region	681	697	N/A	INTRINSIC
low complexity region	764	787	N/A	INTRINSIC
low complexity region	920	947	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	997	1008	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098048

SMART Domains

Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	55	249	2e-55	PFAM
Pfam:GTP_EFTU_D2	272	341	1.3e-15	PFAM
Pfam:GTP_EFTU_D3	345	440	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106392

SMART Domains

Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	55	249	2.7e-57	PFAM
Pfam:GTP_EFTU_D2	272	341	2.1e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000166682
AA Change: Y671*

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: Y671*

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	1	69	1.6e-21	PFAM
LsmAD	142	211	1.95e-28	SMART
low complexity region	237	262	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
Pfam:PAM2	537	553	4.3e-8	PFAM
low complexity region	561	577	N/A	INTRINSIC
low complexity region	644	667	N/A	INTRINSIC
low complexity region	800	827	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167759
AA Change: Y705*

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: Y705*

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	33	103	8.1e-23	PFAM
LsmAD	176	245	1.95e-28	SMART
low complexity region	271	296	N/A	INTRINSIC
low complexity region	364	384	N/A	INTRINSIC
Pfam:PAM2	571	587	4.2e-8	PFAM
low complexity region	595	611	N/A	INTRINSIC
low complexity region	678	701	N/A	INTRINSIC
low complexity region	834	861	N/A	INTRINSIC
low complexity region	893	905	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
low complexity region	944	960	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179818

SMART Domains

Protein: ENSMUSP00000137108
Gene: ENSMUSG00000032637

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	62	132	4.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206055

Predicted Effect

probably benign
Transcript: ENSMUST00000206265

Predicted Effect

probably benign
Transcript: ENSMUST00000206572

Predicted Effect

probably null
Transcript: ENSMUST00000206577
AA Change: Y785*

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,777,085	S345N	possibly damaging	Het
Agk	A	T	6: 40,329,517	T7S	possibly damaging	Het
Ankrd26	T	C	6: 118,511,663	E1345G	possibly damaging	Het
Atp1a3	T	A	7: 24,990,515	Y493F	probably benign	Het
Cacng8	C	A	7: 3,415,421	T363K	probably benign	Het
Camkmt	A	G	17: 85,431,493	T216A	probably benign	Het
Cd2ap	G	A	17: 42,830,013	R212*	probably null	Het
Cnppd1	A	G	1: 75,136,424	L400P	probably damaging	Het
Csmd2	C	A	4: 128,528,262	D2797E		Het
Ddx24	A	G	12: 103,419,450	M298T	possibly damaging	Het
Dpyd	T	C	3: 118,899,284	V359A	possibly damaging	Het
Dscam	T	C	16: 97,056,532	T93A	probably benign	Het
Eif2b3	T	A	4: 117,052,822	S185T	probably benign	Het
Entpd2	T	A	2: 25,400,909	I475N	possibly damaging	Het
Ercc2	C	A	7: 19,394,135	Q715K	probably benign	Het
Fam122a	T	A	19: 24,477,124	H78L	probably benign	Het
Fam122a	T	A	19: 24,477,346	E4V	probably damaging	Het
Fam186b	T	C	15: 99,278,748	R754G	probably benign	Het
Fcgbp	T	A	7: 28,093,436	V955E	possibly damaging	Het
Frrs1	T	C	3: 116,895,563	V361A	possibly damaging	Het
Gabrr2	T	A	4: 33,095,284	M391K	probably benign	Het
Gm12394	T	C	4: 42,792,923	N403S	possibly damaging	Het
Gm3409	T	A	5: 146,539,547	D169E	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 101,794,171		probably benign	Het
Greb1l	C	G	18: 10,544,970	Q1433E	probably damaging	Het
Hal	T	C	10: 93,492,561	V233A	probably benign	Het
Ighv1-58	A	T	12: 115,312,295	N74K	probably benign	Het
Il12rb1	A	G	8: 70,813,699	I229M	possibly damaging	Het
Il17rd	T	C	14: 27,076,391	I56T	possibly damaging	Het
Itpr1	T	C	6: 108,542,024	V2708A	possibly damaging	Het
Klhl38	G	A	15: 58,322,980	R118W	probably damaging	Het
Lmf2	C	A	15: 89,355,530		probably benign	Het
Lrrc3b	T	C	14: 15,357,934	Y224C	probably damaging	Het
Med1	A	C	11: 98,152,808	F599C	probably benign	Het
Mrgprb4	A	G	7: 48,198,758	S141P	probably damaging	Het
Mst1r	G	T	9: 107,914,790	A842S	possibly damaging	Het
Myo3a	T	C	2: 22,544,466		probably null	Het
Nos1	A	T	5: 117,867,905	D230V	possibly damaging	Het
Nppb	T	C	4: 147,986,323	S52P	probably benign	Het
Nqo1	A	G	8: 107,392,648	I99T	probably damaging	Het
Olfr346	T	A	2: 36,688,011	M3K	probably benign	Het
Olfr769	T	C	10: 129,111,699	H242R	probably damaging	Het
Pcdha3	G	A	18: 36,946,924	E240K	possibly damaging	Het
Plpp7	T	G	2: 32,096,055	F82V	probably benign	Het
Podxl	G	T	6: 31,524,436	P395T	probably damaging	Het
Prr5l	T	A	2: 101,717,286	D298V	probably damaging	Het
Rad9b	A	G	5: 122,352,614	V13A	possibly damaging	Het
Rasl2-9	A	G	7: 5,125,740	W64R	probably damaging	Het
Rilp	G	T	11: 75,510,116		probably benign	Het
Ripor2	T	C	13: 24,725,001	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,936,020	Y338H	probably damaging	Het
Shisa5	G	T	9: 109,054,884		probably benign	Het
Slc27a4	C	T	2: 29,812,932	T591I	probably null	Het
Snx24	G	T	18: 53,340,172	V63F	probably damaging	Het
Sptbn1	A	T	11: 30,117,798	Y1805*	probably null	Het
Svep1	G	A	4: 58,046,587	Q3515*	probably null	Het
Synpo2	A	C	3: 123,114,053	M538R	probably benign	Het
Tfap2a	T	C	13: 40,721,308	K276E	probably damaging	Het
Tmem158	C	A	9: 123,260,301	S82I	probably damaging	Het
Tmtc3	G	T	10: 100,447,474	H740N	not run	Het
Top3a	A	T	11: 60,748,148	F559I	probably damaging	Het
Tysnd1	C	A	10: 61,696,549	P327T	possibly damaging	Het
Ulk4	T	A	9: 121,145,059	D969V	probably benign	Het
Vcan	T	A	13: 89,705,266	Y525F	probably benign	Het
Vmn1r127	A	G	7: 21,319,053	F270S	probably benign	Het
Vmn1r204	G	A	13: 22,556,805	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,345,616	I64M	probably benign	Het
Zfp280b	C	G	10: 76,038,703	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,357,143	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,357,144	G143S	probably benign	Het
Zfyve26	A	T	12: 79,282,984	V476D	probably benign	Het
Zkscan6	A	T	11: 65,828,225	H357L	probably benign	Het

Other mutations in Atxn2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Atxn2l	APN	7	126498288	missense	possibly damaging	0.94
IGL00507:Atxn2l	APN	7	126496584	missense	possibly damaging	0.51
IGL00846:Atxn2l	APN	7	126499178	missense	probably damaging	1.00
IGL01813:Atxn2l	APN	7	126500253	missense	probably damaging	1.00
PIT4378001:Atxn2l	UTSW	7	126497271	missense	probably benign	0.11
R0005:Atxn2l	UTSW	7	126498274	missense	probably damaging	1.00
R0267:Atxn2l	UTSW	7	126493207	missense	probably damaging	1.00
R0608:Atxn2l	UTSW	7	126501416	splice site	probably null
R0749:Atxn2l	UTSW	7	126500837	missense	possibly damaging	0.50
R0831:Atxn2l	UTSW	7	126499160	missense	probably damaging	1.00
R0881:Atxn2l	UTSW	7	126496596	missense	probably damaging	1.00
R1022:Atxn2l	UTSW	7	126497294	missense	probably benign	0.01
R1024:Atxn2l	UTSW	7	126497294	missense	probably benign	0.01
R1081:Atxn2l	UTSW	7	126494212	missense	probably damaging	1.00
R1132:Atxn2l	UTSW	7	126494248	small deletion	probably benign
R1489:Atxn2l	UTSW	7	126496467	missense	probably damaging	1.00
R1919:Atxn2l	UTSW	7	126493168	missense	probably damaging	0.99
R2062:Atxn2l	UTSW	7	126495866	missense	probably damaging	1.00
R2170:Atxn2l	UTSW	7	126503239	start gained	probably benign
R3719:Atxn2l	UTSW	7	126498130	missense	probably damaging	1.00
R3861:Atxn2l	UTSW	7	126501951	critical splice donor site	probably null
R5061:Atxn2l	UTSW	7	126500203	missense	probably damaging	1.00
R6022:Atxn2l	UTSW	7	126496435	critical splice donor site	probably null
R6075:Atxn2l	UTSW	7	126492517	missense	possibly damaging	0.70
R6131:Atxn2l	UTSW	7	126503165	unclassified	probably benign
R6460:Atxn2l	UTSW	7	126494248	small deletion	probably benign
R6552:Atxn2l	UTSW	7	126493821	missense	possibly damaging	0.70
R7167:Atxn2l	UTSW	7	126499222	missense	possibly damaging	0.76
R7234:Atxn2l	UTSW	7	126493201	missense	probably damaging	1.00
R7432:Atxn2l	UTSW	7	126493874	missense	possibly damaging	0.46
R7691:Atxn2l	UTSW	7	126492610	critical splice acceptor site	probably null
R7711:Atxn2l	UTSW	7	126501269	missense	probably damaging	1.00
R7849:Atxn2l	UTSW	7	126493173	missense	possibly damaging	0.48
R7870:Atxn2l	UTSW	7	126492752	missense	probably benign
R8907:Atxn2l	UTSW	7	126500253	missense	probably damaging	1.00
R8929:Atxn2l	UTSW	7	126493756	splice site	probably benign
R8949:Atxn2l	UTSW	7	126492205	missense	probably damaging	0.99
R8982:Atxn2l	UTSW	7	126494248	small deletion	probably benign
R9021:Atxn2l	UTSW	7	126495540	missense	probably benign	0.00
R9127:Atxn2l	UTSW	7	126498221	missense	probably damaging	1.00
R9769:Atxn2l	UTSW	7	126496520	missense	probably benign	0.00
RF006:Atxn2l	UTSW	7	126495891	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGCATGAGCCTCAGTAGTG -3'
(R):5'- CTTTTGGCTAACGCTGCTTG -3'

Sequencing Primer
(F):5'- GCCTCAGTAGTGGTTTTAAAGACAG -3'
(R):5'- AACGCTGCTTGAGCTTTGTAC -3'

Posted On

2019-06-26