Incidental Mutation 'R6460:Atxn2l'
ID |
517567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn2l
|
Ensembl Gene |
ENSMUSG00000032637 |
Gene Name |
ataxin 2-like |
Synonyms |
A2LG, A2RP, A2lp, A2D |
MMRRC Submission |
044595-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.935)
|
Stock # |
R6460 (G1)
|
Quality Score |
136.467 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
CCAGCAGCAGCAGCAGCAGC to CCAGCAGCAGCAGCAGC
at 126093420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146023
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000098048]
[ENSMUST00000106392]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000179818]
[ENSMUST00000206055]
[ENSMUST00000206577]
[ENSMUST00000206265]
[ENSMUST00000206572]
|
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: 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 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: ENSMUST00000206055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206577
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206265
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206572
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
T |
10: 79,844,862 (GRCm39) |
H1528L |
probably benign |
Het |
Ablim1 |
A |
G |
19: 57,068,271 (GRCm39) |
S263P |
possibly damaging |
Het |
Ahnak2 |
T |
C |
12: 112,750,610 (GRCm39) |
E104G |
probably null |
Het |
Apof |
T |
A |
10: 128,105,086 (GRCm39) |
M80K |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,283,285 (GRCm39) |
R208H |
probably damaging |
Het |
Arhgef33 |
A |
G |
17: 80,657,018 (GRCm39) |
|
probably null |
Het |
Cabcoco1 |
T |
C |
10: 68,352,211 (GRCm39) |
K34E |
probably damaging |
Het |
Col4a4 |
C |
A |
1: 82,444,253 (GRCm39) |
G1338V |
unknown |
Het |
Coq9 |
T |
A |
8: 95,579,814 (GRCm39) |
D256E |
probably damaging |
Het |
Dnajc18 |
A |
T |
18: 35,833,963 (GRCm39) |
C41S |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,472,795 (GRCm39) |
I307M |
probably damaging |
Het |
Emg1 |
A |
G |
6: 124,688,870 (GRCm39) |
V46A |
probably damaging |
Het |
Eya3 |
A |
G |
4: 132,408,174 (GRCm39) |
S157G |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,027,910 (GRCm39) |
N274S |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,878,296 (GRCm39) |
V3395A |
probably damaging |
Het |
Fchsd1 |
A |
T |
18: 38,092,897 (GRCm39) |
|
probably null |
Het |
Gm4846 |
A |
G |
1: 166,325,082 (GRCm39) |
V3A |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,907,992 (GRCm39) |
|
probably null |
Het |
Herc3 |
T |
A |
6: 58,867,108 (GRCm39) |
I10N |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,618,588 (GRCm39) |
R138H |
probably benign |
Het |
Hspa9 |
A |
T |
18: 35,085,765 (GRCm39) |
H35Q |
probably benign |
Het |
Irgq |
T |
A |
7: 24,233,115 (GRCm39) |
S319T |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Ksr2 |
T |
A |
5: 117,894,449 (GRCm39) |
|
probably null |
Het |
Lrriq1 |
T |
C |
10: 103,036,559 (GRCm39) |
I865V |
probably damaging |
Het |
Map2k1 |
A |
G |
9: 64,094,577 (GRCm39) |
L355P |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,551,812 (GRCm39) |
I4827T |
probably benign |
Het |
Myh1 |
T |
C |
11: 67,112,202 (GRCm39) |
V1752A |
probably benign |
Het |
Nfatc2ip |
A |
G |
7: 125,986,909 (GRCm39) |
V282A |
probably damaging |
Het |
Nrg1 |
T |
A |
8: 32,308,561 (GRCm39) |
E485V |
probably damaging |
Het |
Ofcc1 |
T |
C |
13: 40,441,455 (GRCm39) |
D2G |
probably damaging |
Het |
Or10d3 |
CAGAG |
CAG |
9: 39,462,088 (GRCm39) |
|
probably null |
Het |
Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
Pom121 |
T |
C |
5: 135,420,537 (GRCm39) |
K295E |
unknown |
Het |
Rb1 |
A |
C |
14: 73,515,894 (GRCm39) |
I294R |
probably benign |
Het |
Schip1 |
C |
A |
3: 68,402,227 (GRCm39) |
S101R |
probably benign |
Het |
Sec24c |
T |
A |
14: 20,740,868 (GRCm39) |
Y629N |
probably damaging |
Het |
Shkbp1 |
T |
A |
7: 27,049,963 (GRCm39) |
H305L |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,959,801 (GRCm39) |
I187T |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,135,838 (GRCm39) |
T256K |
probably damaging |
Het |
Stk32c |
T |
A |
7: 138,685,190 (GRCm39) |
N320I |
probably damaging |
Het |
Stxbp4 |
A |
T |
11: 90,497,811 (GRCm39) |
S163T |
probably benign |
Het |
Sycp1 |
T |
G |
3: 102,832,569 (GRCm39) |
Y199S |
probably damaging |
Het |
Tpk1 |
T |
C |
6: 43,445,961 (GRCm39) |
D159G |
probably benign |
Het |
Trav21-dv12 |
C |
T |
14: 54,114,191 (GRCm39) |
H104Y |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,788,302 (GRCm39) |
Y48N |
probably damaging |
Het |
Trmt10b |
A |
G |
4: 45,314,322 (GRCm39) |
T255A |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,747,232 (GRCm39) |
Q4606* |
probably null |
Het |
Vcan |
T |
A |
13: 89,838,806 (GRCm39) |
K2246M |
possibly damaging |
Het |
Zfp438 |
C |
A |
18: 5,213,603 (GRCm39) |
G452C |
probably damaging |
Het |
Zfp54 |
T |
A |
17: 21,654,004 (GRCm39) |
I166N |
probably benign |
Het |
Zfp735 |
T |
C |
11: 73,602,478 (GRCm39) |
V474A |
probably benign |
Het |
Zfp831 |
G |
T |
2: 174,488,360 (GRCm39) |
G1012W |
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 |
|
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'- TCAAGTGGACACTGCCAACC -3'
(R):5'- GTATCCAATTCCGTGCCTGG -3'
Sequencing Primer
(F):5'- GACACTGCCAACCCCACAG -3'
(R):5'- GCAGCAGGGCAAGTACC -3'
|
Posted On |
2018-05-21 |