Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Atxn2l'

594615

Institutional Source

Beutler Lab

Gene Symbol

Atxn2l

Ensembl Gene

ENSMUSG00000032637

Gene Name

ataxin 2-like

Synonyms

A2LG, A2RP, A2lp, A2D

MMRRC Submission

045769-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.937) question?

Stock #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126090880-126102609 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126100441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 125 (L125Q)

Ref Sequence

ENSEMBL: ENSMUSP00000035415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000166682] [ENSMUST00000167759] [ENSMUST00000179818] [ENSMUST00000206577]

AlphaFold

Q7TQH0

Predicted Effect

probably damaging
Transcript: ENSMUST00000040202
AA Change: L125Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: L125Q

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 damaging
Transcript: ENSMUST00000166682
AA Change: L5Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: L5Q

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 damaging
Transcript: ENSMUST00000167759
AA Change: L39Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: L39Q

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 damaging
Transcript: ENSMUST00000179818
AA Change: L68Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137108
Gene: ENSMUSG00000032637
AA Change: L68Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206577
AA Change: L125Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,886,723 (GRCm39)	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,203,649 (GRCm39)	V34G	probably damaging	Het
Alkbh3	T	C	2: 93,838,437 (GRCm39)	S44G	probably benign	Het
Alpk2	A	T	18: 65,439,555 (GRCm39)	C613S	probably benign	Het
Aplp2	G	A	9: 31,072,645 (GRCm39)	R488C	probably damaging	Het
Arid1b	A	G	17: 5,387,095 (GRCm39)	N1463S	probably benign	Het
Cd3d	A	G	9: 44,897,634 (GRCm39)	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234 (GRCm39)	D764E	probably benign	Het
Col19a1	T	C	1: 24,569,089 (GRCm39)	I220V	unknown	Het
Cpq	T	C	15: 33,497,493 (GRCm39)	I411T	probably benign	Het
Crybg2	C	A	4: 133,792,844 (GRCm39)	H160N	probably benign	Het
Cryl1	A	T	14: 57,513,013 (GRCm39)	C285S	probably benign	Het
Dapk1	A	G	13: 60,909,365 (GRCm39)	D1326G	probably damaging	Het
Dgkh	A	G	14: 78,962,459 (GRCm39)	V24A	probably benign	Het
Dnajb4	A	C	3: 151,892,154 (GRCm39)	S226R	probably benign	Het
Dnm3	A	T	1: 161,819,622 (GRCm39)	I850N	possibly damaging	Het
Dtna	G	T	18: 23,758,253 (GRCm39)		probably null	Het
Efcab6	G	T	15: 83,834,125 (GRCm39)	D494E	probably benign	Het
Fam169a	G	T	13: 97,263,196 (GRCm39)	E550*	probably null	Het
Fbxw7	A	G	3: 84,832,988 (GRCm39)	N10S	probably benign	Het
Flrt2	T	C	12: 95,747,528 (GRCm39)	F622S	probably damaging	Het
Gprc5d	G	A	6: 135,093,355 (GRCm39)	T184I	possibly damaging	Het
Grem2	A	G	1: 174,664,693 (GRCm39)	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,327,533 (GRCm39)	T310N	probably damaging	Het
H2-T13	T	A	17: 36,394,770 (GRCm39)	N51I	probably damaging	Het
Hyou1	A	G	9: 44,295,759 (GRCm39)	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,745,971 (GRCm39)	S107P	probably benign	Het
Kif14	G	T	1: 136,399,191 (GRCm39)	G451C	probably benign	Het
Kit	T	A	5: 75,798,019 (GRCm39)	F436I	probably damaging	Het
Lonp2	G	A	8: 87,440,636 (GRCm39)	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,716,375 (GRCm39)	G87C	probably damaging	Het
Lrp2	T	C	2: 69,309,687 (GRCm39)		probably null	Het
Lrrc37	G	T	11: 103,505,738 (GRCm39)	Q2077K	probably benign	Het
Mkln1	A	G	6: 31,469,584 (GRCm39)	H598R	probably damaging	Het
Mmaa	T	C	8: 79,994,774 (GRCm39)	H344R	probably benign	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Myh7b	T	G	2: 155,462,323 (GRCm39)	L342R	probably damaging	Het
Or12e8	A	G	2: 87,187,871 (GRCm39)	N28D	probably benign	Het
Or2h2b-ps1	C	T	17: 37,480,847 (GRCm39)	G129R	probably damaging	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or7e178	A	T	9: 20,225,319 (GRCm39)	V299E	possibly damaging	Het
Pcsk5	T	A	19: 17,416,444 (GRCm39)	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,824,414 (GRCm39)	T47I	possibly damaging	Het
Pklr	T	C	3: 89,048,649 (GRCm39)	L104P	probably damaging	Het
Plcxd2	A	G	16: 45,800,693 (GRCm39)	V177A	probably benign	Het
Pramel16	T	C	4: 143,675,822 (GRCm39)	S335G	probably benign	Het
Prdm10	G	T	9: 31,268,528 (GRCm39)	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,455 (GRCm39)	S105P	probably benign	Het
Prss51	T	A	14: 64,334,937 (GRCm39)	V164E	probably damaging	Het
Psap	T	C	10: 60,135,634 (GRCm39)	V360A	probably damaging	Het
Psg22	T	C	7: 18,452,267 (GRCm39)		probably null	Het
Qrfprl	A	G	6: 65,418,357 (GRCm39)	H23R		Het
Rad51	A	G	2: 118,962,071 (GRCm39)	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,664,874 (GRCm39)	K277R	probably benign	Het
Rassf2	T	A	2: 131,847,297 (GRCm39)	T103S	probably benign	Het
Rbm15b	T	A	9: 106,763,142 (GRCm39)	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Scaf8	T	C	17: 3,237,909 (GRCm39)	F561L	probably damaging	Het
Scn1a	G	A	2: 66,134,004 (GRCm39)	A130V	probably benign	Het
Scn7a	T	C	2: 66,531,221 (GRCm39)	E552G	probably damaging	Het
Slc39a14	T	A	14: 70,551,124 (GRCm39)	R183W	probably damaging	Het
Slfn1	A	T	11: 83,012,089 (GRCm39)	K68N	possibly damaging	Het
Slx4ip	A	G	2: 136,909,914 (GRCm39)	D303G	probably damaging	Het
Snx17	T	A	5: 31,352,804 (GRCm39)	F101Y	probably damaging	Het
Spata31e3	T	G	13: 50,401,131 (GRCm39)	R398S	probably benign	Het
Specc1l	C	A	10: 75,066,642 (GRCm39)	N30K	probably benign	Het
Spmip2	A	G	3: 79,313,167 (GRCm39)	I80M	probably damaging	Het
Tbx19	A	G	1: 164,966,768 (GRCm39)	S369P	probably benign	Het
Usp17ld	T	C	7: 102,899,489 (GRCm39)	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,036 (GRCm39)	L287P	probably benign	Het
Zfhx4	G	T	3: 5,462,016 (GRCm39)	M1230I	probably damaging	Het
Zfp1	T	C	8: 112,396,794 (GRCm39)	C272R	not run	Het
Zfp458	A	G	13: 67,407,664 (GRCm39)	S64P	possibly damaging	Het

Other mutations in Atxn2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Atxn2l	APN	7	126,097,460 (GRCm39)	missense	possibly damaging	0.94
IGL00507:Atxn2l	APN	7	126,095,756 (GRCm39)	missense	possibly damaging	0.51
IGL00846:Atxn2l	APN	7	126,098,350 (GRCm39)	missense	probably damaging	1.00
IGL01813:Atxn2l	APN	7	126,099,425 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Atxn2l	UTSW	7	126,096,443 (GRCm39)	missense	probably benign	0.11
R0005:Atxn2l	UTSW	7	126,097,446 (GRCm39)	missense	probably damaging	1.00
R0267:Atxn2l	UTSW	7	126,092,379 (GRCm39)	missense	probably damaging	1.00
R0608:Atxn2l	UTSW	7	126,100,588 (GRCm39)	splice site	probably null
R0749:Atxn2l	UTSW	7	126,100,009 (GRCm39)	missense	possibly damaging	0.50
R0831:Atxn2l	UTSW	7	126,098,332 (GRCm39)	missense	probably damaging	1.00
R0881:Atxn2l	UTSW	7	126,095,768 (GRCm39)	missense	probably damaging	1.00
R1022:Atxn2l	UTSW	7	126,096,466 (GRCm39)	missense	probably benign	0.01
R1024:Atxn2l	UTSW	7	126,096,466 (GRCm39)	missense	probably benign	0.01
R1081:Atxn2l	UTSW	7	126,093,384 (GRCm39)	missense	probably damaging	1.00
R1132:Atxn2l	UTSW	7	126,093,420 (GRCm39)	small deletion	probably benign
R1489:Atxn2l	UTSW	7	126,095,639 (GRCm39)	missense	probably damaging	1.00
R1919:Atxn2l	UTSW	7	126,092,340 (GRCm39)	missense	probably damaging	0.99
R2062:Atxn2l	UTSW	7	126,095,038 (GRCm39)	missense	probably damaging	1.00
R2170:Atxn2l	UTSW	7	126,102,411 (GRCm39)	start gained	probably benign
R3719:Atxn2l	UTSW	7	126,097,302 (GRCm39)	missense	probably damaging	1.00
R3861:Atxn2l	UTSW	7	126,101,123 (GRCm39)	critical splice donor site	probably null
R5061:Atxn2l	UTSW	7	126,099,375 (GRCm39)	missense	probably damaging	1.00
R6022:Atxn2l	UTSW	7	126,095,607 (GRCm39)	critical splice donor site	probably null
R6075:Atxn2l	UTSW	7	126,091,689 (GRCm39)	missense	possibly damaging	0.70
R6131:Atxn2l	UTSW	7	126,102,337 (GRCm39)	unclassified	probably benign
R6460:Atxn2l	UTSW	7	126,093,420 (GRCm39)	small deletion	probably benign
R6552:Atxn2l	UTSW	7	126,092,993 (GRCm39)	missense	possibly damaging	0.70
R7167:Atxn2l	UTSW	7	126,098,394 (GRCm39)	missense	possibly damaging	0.76
R7234:Atxn2l	UTSW	7	126,092,373 (GRCm39)	missense	probably damaging	1.00
R7301:Atxn2l	UTSW	7	126,093,383 (GRCm39)	nonsense	probably null
R7432:Atxn2l	UTSW	7	126,093,046 (GRCm39)	missense	possibly damaging	0.46
R7691:Atxn2l	UTSW	7	126,091,782 (GRCm39)	critical splice acceptor site	probably null
R7849:Atxn2l	UTSW	7	126,092,345 (GRCm39)	missense	possibly damaging	0.48
R7870:Atxn2l	UTSW	7	126,091,924 (GRCm39)	missense	probably benign
R8907:Atxn2l	UTSW	7	126,099,425 (GRCm39)	missense	probably damaging	1.00
R8929:Atxn2l	UTSW	7	126,092,928 (GRCm39)	splice site	probably benign
R8949:Atxn2l	UTSW	7	126,091,377 (GRCm39)	missense	probably damaging	0.99
R8982:Atxn2l	UTSW	7	126,093,420 (GRCm39)	small deletion	probably benign
R9021:Atxn2l	UTSW	7	126,094,712 (GRCm39)	missense	probably benign	0.00
R9127:Atxn2l	UTSW	7	126,097,393 (GRCm39)	missense	probably damaging	1.00
R9769:Atxn2l	UTSW	7	126,095,692 (GRCm39)	missense	probably benign	0.00
RF006:Atxn2l	UTSW	7	126,095,063 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACACTGACCTTTGAGCTCAGAG -3'
(R):5'- ACATTGGTCTAGGGTTCACTAC -3'

Sequencing Primer
(F):5'- TCAGAGTCTTGAAAATGCCCTCG -3'
(R):5'- TTTTTAATAGGGGACAGACCACCG -3'

Posted On

2019-11-12