Incidental Mutation 'R3719:Atxn2l'
| ID |
258822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn2l
|
| Ensembl Gene |
ENSMUSG00000032637 |
| Gene Name |
ataxin 2-like |
| Synonyms |
A2LG, A2RP, A2lp, A2D |
| MMRRC Submission |
042001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R3719 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126097302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 335
(R335W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000179818]
[ENSMUST00000206265]
[ENSMUST00000206577]
|
| AlphaFold |
Q7TQH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040202
AA Change: R335W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: R335W
| 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: R215W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: R215W
| 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: R249W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: R249W
| 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: ENSMUST00000206265
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206577
AA Change: R335W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5710 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (35/36) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
G |
A |
15: 94,259,719 (GRCm39) |
R327C |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,621,451 (GRCm39) |
S93P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,711,343 (GRCm39) |
D75G |
probably damaging |
Het |
| Chpf2 |
C |
T |
5: 24,795,310 (GRCm39) |
Q278* |
probably null |
Het |
| Cypt14-ps |
C |
T |
X: 38,952,128 (GRCm39) |
G52E |
probably damaging |
Het |
| Defb18 |
A |
G |
1: 18,306,813 (GRCm39) |
S48P |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,006,882 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
G |
13: 12,598,493 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,717,876 (GRCm39) |
S254P |
probably benign |
Het |
| Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
| Kdm3b |
C |
T |
18: 34,941,724 (GRCm39) |
A405V |
probably damaging |
Het |
| Mcm7 |
G |
A |
5: 138,164,976 (GRCm39) |
Q550* |
probably null |
Het |
| Or9m1 |
G |
A |
2: 87,733,447 (GRCm39) |
T191I |
probably benign |
Het |
| Pcdh7 |
A |
G |
5: 58,286,374 (GRCm39) |
E1150G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,288 (GRCm39) |
Y756C |
possibly damaging |
Het |
| Pclo |
A |
G |
5: 14,571,175 (GRCm39) |
T187A |
probably benign |
Het |
| Rbms3 |
C |
T |
9: 116,411,930 (GRCm39) |
V421I |
probably benign |
Het |
| Selenbp2 |
T |
C |
3: 94,606,924 (GRCm39) |
F190S |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,382,144 (GRCm39) |
T801M |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Spen |
G |
T |
4: 141,244,494 (GRCm39) |
H180Q |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,512,770 (GRCm39) |
K1339R |
possibly damaging |
Het |
| Trim30a |
C |
A |
7: 104,060,370 (GRCm39) |
D469Y |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,964,354 (GRCm39) |
R1283H |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,749,757 (GRCm39) |
R29* |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,194,672 (GRCm39) |
V567A |
probably benign |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,811 (GRCm39) |
Y199C |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,582 (GRCm39) |
Y459N |
probably damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,245 (GRCm39) |
I215V |
probably benign |
Het |
| Wdr48 |
C |
T |
9: 119,736,197 (GRCm39) |
S162F |
probably 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 |
|
|
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'- CTACTGTTGCTGCAAATTACCAAC -3'
(R):5'- TGTTTCCTCGCACTGGGATG -3'
Sequencing Primer
(F):5'- GCTGCAAATTACCAACTTTCTAGGG -3'
(R):5'- CTCTCAGGGTTCCCTTAGAAAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation