Incidental Mutation 'R1132:Atxn2l'
ID |
94723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn2l
|
Ensembl Gene |
ENSMUSG00000032637 |
Gene Name |
ataxin 2-like |
Synonyms |
A2LG, A2RP, A2lp, A2D |
MMRRC Submission |
039205-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
R1132 (G1)
|
Quality Score |
110 |
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]
[ENSMUST00000206577]
[ENSMUST00000206265]
[ENSMUST00000206055]
[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: ENSMUST00000206577
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206265
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206572
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apba1 |
T |
C |
19: 23,894,917 (GRCm39) |
V451A |
possibly damaging |
Het |
C3 |
C |
T |
17: 57,514,531 (GRCm39) |
|
probably null |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cd163 |
G |
T |
6: 124,286,055 (GRCm39) |
G202* |
probably null |
Het |
Cdk8 |
A |
G |
5: 146,236,625 (GRCm39) |
T347A |
probably benign |
Het |
Cep170 |
C |
A |
1: 176,577,603 (GRCm39) |
R1257L |
probably damaging |
Het |
Cib1 |
A |
G |
7: 79,877,778 (GRCm39) |
F168S |
probably damaging |
Het |
Cntnap5c |
G |
A |
17: 58,601,351 (GRCm39) |
G833D |
probably damaging |
Het |
Dhx37 |
A |
T |
5: 125,498,103 (GRCm39) |
I702N |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,538,227 (GRCm39) |
K3586R |
possibly damaging |
Het |
Fbxo31 |
ACGGCGCGGCG |
ACGGCGCGGCGCGGCG |
8: 122,279,015 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
CGCGG |
CGCGGAGCGG |
8: 122,279,019 (GRCm39) |
|
probably null |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Gaa |
T |
C |
11: 119,175,885 (GRCm39) |
S953P |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,305 (GRCm39) |
E315G |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,708,464 (GRCm39) |
Y840H |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,983,743 (GRCm39) |
E653G |
probably damaging |
Het |
Loxhd1 |
T |
C |
18: 77,517,639 (GRCm39) |
V1829A |
possibly damaging |
Het |
Myh8 |
C |
T |
11: 67,187,957 (GRCm39) |
Q910* |
probably null |
Het |
Or12d12 |
T |
C |
17: 37,610,423 (GRCm39) |
R297G |
probably benign |
Het |
Or14a257 |
A |
T |
7: 86,138,425 (GRCm39) |
F111L |
probably benign |
Het |
Or14j4 |
G |
T |
17: 37,921,333 (GRCm39) |
T103K |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,389,758 (GRCm39) |
I150N |
possibly damaging |
Het |
Prdm4 |
A |
G |
10: 85,735,145 (GRCm39) |
S666P |
probably damaging |
Het |
Rad50 |
T |
C |
11: 53,585,788 (GRCm39) |
K331E |
possibly damaging |
Het |
Rbbp6 |
A |
G |
7: 122,599,336 (GRCm39) |
|
probably benign |
Het |
Selenbp1 |
C |
G |
3: 94,844,644 (GRCm39) |
I100M |
probably benign |
Het |
Skint6 |
A |
G |
4: 112,755,296 (GRCm39) |
|
probably null |
Het |
Stac3 |
T |
C |
10: 127,343,128 (GRCm39) |
S208P |
probably benign |
Het |
Tfap2a |
T |
C |
13: 40,874,867 (GRCm39) |
|
probably null |
Het |
Trhde |
T |
C |
10: 114,248,383 (GRCm39) |
K939E |
possibly damaging |
Het |
Vmn1r22 |
T |
C |
6: 57,877,826 (GRCm39) |
I50M |
probably benign |
Het |
Vmn1r39 |
C |
T |
6: 66,781,428 (GRCm39) |
V260I |
probably benign |
Het |
Zdhhc25 |
T |
C |
15: 88,484,926 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp202 |
T |
C |
9: 40,122,318 (GRCm39) |
L360P |
probably benign |
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 |
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 |
|
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'- CCGAGAGCAAAGGTTCAATGTCCTG -3'
(R):5'- AGCCCAAGAAAAGTGCTGATTGTCC -3'
Sequencing Primer
(F):5'- CCTGTTACAGGAATTCAAGTGGAC -3'
(R):5'- GAAAAGTGCTGATTGTCCAGCTC -3'
|
Posted On |
2014-01-05 |