Incidental Mutation 'R2170:Atxn2l'
ID |
237430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn2l
|
Ensembl Gene |
ENSMUSG00000032637 |
Gene Name |
ataxin 2-like |
Synonyms |
A2LG, A2RP, A2lp, A2D |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
R2170 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
T to A
at 126102411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000179818]
[ENSMUST00000206577]
|
AlphaFold |
Q7TQH0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040202
|
SMART Domains |
Protein: ENSMUSP00000035415 Gene: ENSMUSG00000032637
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: ENSMUST00000166682
|
SMART Domains |
Protein: ENSMUSP00000125881 Gene: ENSMUSG00000032637
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 benign
Transcript: ENSMUST00000167759
|
SMART Domains |
Protein: ENSMUSP00000132959 Gene: ENSMUSG00000032637
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: ENSMUST00000206577
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
Or14a257 |
T |
A |
7: 86,137,778 (GRCm39) |
H327L |
probably benign |
Het |
Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
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 |
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 |
|
R7711:Atxn2l
|
UTSW |
7 |
126,100,441 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TAAGATGCTTTCGGCTCCG -3'
(R):5'- TTTAAGGTGGCTCAGAACCTAG -3'
Sequencing Primer
(F):5'- CCAGGCACGGAGAGACC -3'
(R):5'- GGAACTAACCGCCTGGC -3'
|
Posted On |
2014-10-02 |