Mutagenetix > Incidental Mutations

Incidental Mutation 'R1919:Atxn2l'

212843

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2lp, A2D, A2RP, A2LG

MMRRC Submission

039937-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126491708-126503437 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126493168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 70 (T70I)

Ref Sequence

ENSEMBL: ENSMUSP00000145768 (fasta)

Gene Model

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

AlphaFold

Q7TQH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040202
AA Change: T969I

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: T969I

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

possibly damaging
Transcript: ENSMUST00000166682
AA Change: T849I

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: T849I

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

possibly damaging
Transcript: ENSMUST00000167759
AA Change: T883I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: T883I

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

noncoding transcript
Transcript: ENSMUST00000205346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205478

Predicted Effect

probably benign
Transcript: ENSMUST00000206055

Predicted Effect

probably damaging
Transcript: ENSMUST00000206265
AA Change: T70I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000206572

Predicted Effect

probably damaging
Transcript: ENSMUST00000206577
AA Change: T963I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983		probably null	Het
Actr10	A	G	12: 70,942,330	I74M	probably benign	Het
Aen	T	C	7: 78,905,912	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971	V416I	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797	C256S	probably damaging	Het
C3	C	A	17: 57,220,135	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172		probably null	Het
Dnaic1	T	C	4: 41,570,020		probably null	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm3604	G	T	13: 62,369,942	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpatch8	A	G	11: 102,508,142		probably null	Het
H2-M3	T	C	17: 37,271,189	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hrg	A	T	16: 22,954,457	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345		probably benign	Het
Krt90	A	T	15: 101,557,230	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303	D93G	possibly damaging	Het
Phkb	A	G	8: 85,922,161	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738		probably null	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990	K645*	probably null	Het
Robo2	C	T	16: 73,899,154	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016		probably benign	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	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
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
R7301:Atxn2l	UTSW	7	126494211	nonsense	probably null
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
R9145:Atxn2l	UTSW	7	126494248	small deletion	probably benign
RF006:Atxn2l	UTSW	7	126495891	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTCCAGTTTGGACATGGG -3'
(R):5'- CACTTCTACTCTGGCAGCAC -3'

Sequencing Primer
(F):5'- GGCCTGTAGAAGAGAATTAGTTTC -3'
(R):5'- TCACCTGGGCAGTGGACAG -3'

Posted On

2014-07-14