Incidental Mutation 'R6131:Atxn2l'
| ID |
487132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn2l
|
| Ensembl Gene |
ENSMUSG00000032637 |
| Gene Name |
ataxin 2-like |
| Synonyms |
A2LG, A2RP, A2lp, A2D |
| MMRRC Submission |
044278-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R6131 (G1)
|
| Quality Score |
97.0078 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 126102337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137108
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000179818]
[ENSMUST00000206577]
|
| AlphaFold |
Q7TQH0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000040202
AA Change: T10A
|
| SMART Domains |
Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: T10A
| 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 |
unknown
Transcript: ENSMUST00000206577
AA Change: T10A
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
96% (50/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
A |
T |
15: 84,844,793 (GRCm39) |
W75R |
probably damaging |
Het |
| Aadacl2fm3 |
A |
G |
3: 59,776,324 (GRCm39) |
K165R |
possibly damaging |
Het |
| Abca15 |
T |
C |
7: 119,939,428 (GRCm39) |
V274A |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ap1m2 |
T |
C |
9: 21,207,797 (GRCm39) |
Y396C |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,065,874 (GRCm39) |
S405P |
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 39,419,638 (GRCm39) |
G533* |
probably null |
Het |
| Ccdc88c |
A |
T |
12: 100,907,387 (GRCm39) |
L995H |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,612,756 (GRCm39) |
D255G |
probably benign |
Het |
| Cep192 |
A |
G |
18: 67,971,068 (GRCm39) |
H1023R |
possibly damaging |
Het |
| Cog5 |
T |
A |
12: 31,936,220 (GRCm39) |
M589K |
possibly damaging |
Het |
| Col25a1 |
C |
A |
3: 130,329,114 (GRCm39) |
P337Q |
probably damaging |
Het |
| Cyfip1 |
T |
G |
7: 55,523,228 (GRCm39) |
V51G |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,292,626 (GRCm39) |
I3004F |
probably damaging |
Het |
| Dsg3 |
A |
T |
18: 20,671,569 (GRCm39) |
D758V |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,653,534 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,827,510 (GRCm39) |
H573Q |
probably damaging |
Het |
| Erp27 |
T |
C |
6: 136,885,201 (GRCm39) |
D199G |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,894,635 (GRCm38) |
Y811C |
possibly damaging |
Het |
| G6pd2 |
A |
T |
5: 61,966,593 (GRCm39) |
S123C |
probably benign |
Het |
| Gm1818 |
T |
A |
12: 48,602,319 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29340 |
C |
T |
2: 116,798,519 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc7 |
C |
A |
13: 23,758,310 (GRCm39) |
|
probably benign |
Het |
| Hcn2 |
G |
T |
10: 79,569,742 (GRCm39) |
G581W |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,042,313 (GRCm39) |
|
probably null |
Het |
| Lonp1 |
T |
C |
17: 56,921,457 (GRCm39) |
E926G |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,396,026 (GRCm39) |
I2415V |
probably benign |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Mmp10 |
A |
G |
9: 7,503,633 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
A |
8: 10,619,877 (GRCm39) |
I1476N |
probably benign |
Het |
| Nectin3 |
G |
T |
16: 46,215,515 (GRCm39) |
H76N |
probably damaging |
Het |
| Nphs2 |
G |
A |
1: 156,153,521 (GRCm39) |
R204Q |
probably damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,940,256 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b53 |
T |
A |
9: 38,667,362 (GRCm39) |
I126N |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pate10 |
T |
A |
9: 35,652,840 (GRCm39) |
C27* |
probably null |
Het |
| Psme2b |
T |
C |
11: 48,836,752 (GRCm39) |
D65G |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,012,172 (GRCm39) |
K214E |
probably damaging |
Het |
| Rnasel |
A |
T |
1: 153,630,206 (GRCm39) |
T241S |
probably damaging |
Het |
| Samd9l |
C |
G |
6: 3,377,252 (GRCm39) |
G3A |
probably benign |
Het |
| Smg7 |
A |
G |
1: 152,720,962 (GRCm39) |
|
probably null |
Het |
| Spag16 |
A |
G |
1: 70,764,242 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
T |
A |
13: 65,183,485 (GRCm39) |
D342E |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,719,642 (GRCm39) |
|
probably null |
Het |
| Taar7b |
A |
T |
10: 23,876,615 (GRCm39) |
Y260F |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,517 (GRCm39) |
I289V |
probably damaging |
Het |
| Vmn2r130 |
C |
T |
17: 23,282,629 (GRCm39) |
A103V |
probably benign |
Het |
| Vmn2r39 |
A |
G |
7: 9,017,963 (GRCm39) |
V791A |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,644,224 (GRCm39) |
I729F |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,269,137 (GRCm39) |
D93V |
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 |
|
|
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 |
|
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'- CGCTAAGATGCTTTCGGCTC -3'
(R):5'- AGGTGGCTCAGAACCTAGAG -3'
Sequencing Primer
(F):5'- AAGATGCTTTCGGCTCCGCGGCGAAG -3'
(R):5'- GGAACTAACCGCCTGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation