Incidental Mutation 'R7691:Atxn2l'
ID |
593396 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn2l
|
Ensembl Gene |
ENSMUSG00000032637 |
Gene Name |
ataxin 2-like |
Synonyms |
A2LG, A2RP, A2lp, A2D |
MMRRC Submission |
045755-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
R7691 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 126091782 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]
[ENSMUST00000206055]
[ENSMUST00000206265]
[ENSMUST00000206577]
[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: ENSMUST00000206055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206265
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206577
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206572
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
A |
T |
6: 92,773,219 (GRCm39) |
C1763S |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,256,540 (GRCm39) |
V782A |
probably benign |
Het |
Arhgef17 |
G |
A |
7: 100,578,849 (GRCm39) |
R700C |
probably damaging |
Het |
Bach2 |
A |
G |
4: 32,580,271 (GRCm39) |
E832G |
probably damaging |
Het |
Brpf3 |
G |
C |
17: 29,025,805 (GRCm39) |
A293P |
probably damaging |
Het |
Cacfd1 |
T |
C |
2: 26,900,106 (GRCm39) |
L36P |
probably damaging |
Het |
Camsap2 |
T |
C |
1: 136,220,742 (GRCm39) |
E268G |
probably damaging |
Het |
Ccnjl |
A |
T |
11: 43,474,028 (GRCm39) |
Q201L |
probably benign |
Het |
Cdan1 |
A |
G |
2: 120,560,048 (GRCm39) |
V372A |
probably damaging |
Het |
Cenpf |
C |
A |
1: 189,390,404 (GRCm39) |
E1143* |
probably null |
Het |
Colgalt1 |
A |
T |
8: 72,073,398 (GRCm39) |
M340L |
probably benign |
Het |
Crybg3 |
A |
G |
16: 59,376,497 (GRCm39) |
Y1586H |
not run |
Het |
Csmd3 |
A |
G |
15: 47,604,569 (GRCm39) |
I1058T |
|
Het |
Dock1 |
G |
A |
7: 134,739,886 (GRCm39) |
|
probably null |
Het |
Dzank1 |
G |
A |
2: 144,348,091 (GRCm39) |
T225I |
probably damaging |
Het |
Eif3c |
G |
A |
7: 126,151,162 (GRCm39) |
R721W |
possibly damaging |
Het |
Fdps |
A |
G |
3: 89,006,674 (GRCm39) |
V72A |
probably benign |
Het |
Filip1l |
A |
G |
16: 57,392,796 (GRCm39) |
N1128S |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 52,991,510 (GRCm39) |
Y342N |
unknown |
Het |
Gria1 |
A |
T |
11: 57,127,813 (GRCm39) |
I410F |
possibly damaging |
Het |
Gsdmc4 |
C |
A |
15: 63,765,640 (GRCm39) |
S303I |
probably damaging |
Het |
Herc2 |
C |
T |
7: 55,841,593 (GRCm39) |
P3491S |
probably benign |
Het |
Ift25 |
A |
G |
4: 107,130,886 (GRCm39) |
I59V |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,084,389 (GRCm39) |
H927R |
possibly damaging |
Het |
Lrrc8e |
T |
C |
8: 4,284,534 (GRCm39) |
M253T |
probably damaging |
Het |
Ltn1 |
G |
T |
16: 87,195,574 (GRCm39) |
H1317Q |
probably damaging |
Het |
Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
Mki67 |
C |
T |
7: 135,303,721 (GRCm39) |
V716I |
not run |
Het |
Mllt10 |
A |
G |
2: 18,208,422 (GRCm39) |
S694G |
possibly damaging |
Het |
Mllt10 |
G |
C |
2: 18,208,423 (GRCm39) |
S694T |
probably null |
Het |
Mtcl1 |
A |
G |
17: 66,687,352 (GRCm39) |
L518S |
probably damaging |
Het |
Or2ad1 |
G |
A |
13: 21,327,140 (GRCm39) |
A29V |
probably benign |
Het |
Pcdh10 |
G |
T |
3: 45,335,632 (GRCm39) |
D649Y |
probably damaging |
Het |
Pdgfrb |
C |
T |
18: 61,194,340 (GRCm39) |
T39M |
probably benign |
Het |
Pls1 |
T |
C |
9: 95,655,726 (GRCm39) |
E342G |
probably benign |
Het |
Pon1 |
C |
T |
6: 5,175,819 (GRCm39) |
V235I |
probably benign |
Het |
Rhobtb3 |
A |
T |
13: 76,027,056 (GRCm39) |
V439E |
probably damaging |
Het |
Septin8 |
A |
G |
11: 53,428,414 (GRCm39) |
T355A |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Ssc5d |
C |
T |
7: 4,947,168 (GRCm39) |
T1174I |
probably benign |
Het |
Sspo |
A |
T |
6: 48,461,163 (GRCm39) |
T3535S |
probably benign |
Het |
Stk39 |
A |
G |
2: 68,301,983 (GRCm39) |
V80A |
probably damaging |
Het |
Sult2b1 |
T |
C |
7: 45,384,708 (GRCm39) |
I123V |
probably benign |
Het |
Sv2a |
A |
T |
3: 96,095,727 (GRCm39) |
I348F |
probably benign |
Het |
Taar8b |
T |
A |
10: 23,967,436 (GRCm39) |
R253* |
probably null |
Het |
Tbc1d4 |
T |
C |
14: 101,745,077 (GRCm39) |
K183R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,192,610 (GRCm39) |
D608V |
probably damaging |
Het |
Tnfsf14 |
T |
A |
17: 57,501,024 (GRCm39) |
T16S |
possibly damaging |
Het |
Togaram2 |
A |
G |
17: 72,023,405 (GRCm39) |
T774A |
probably benign |
Het |
Tshr |
C |
A |
12: 91,464,515 (GRCm39) |
A87E |
probably benign |
Het |
Tsn |
T |
C |
1: 118,237,505 (GRCm39) |
D53G |
probably benign |
Het |
Usp37 |
TC |
T |
1: 74,525,919 (GRCm39) |
|
probably null |
Het |
Vav2 |
T |
A |
2: 27,187,750 (GRCm39) |
|
probably null |
Het |
Vmn2r52 |
T |
A |
7: 9,893,109 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn2r65 |
T |
A |
7: 84,592,851 (GRCm39) |
Y452F |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,687,111 (GRCm39) |
R831G |
probably damaging |
Het |
Zfp821 |
T |
C |
8: 110,447,871 (GRCm39) |
S71P |
probably damaging |
Het |
Zwilch |
T |
A |
9: 64,063,373 (GRCm39) |
I286F |
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 |
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 |
|
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 |
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'- TTACTCAGTTGCCCAGCTCAG -3'
(R):5'- ATTTCCAGGAGGAGCCGATG -3'
Sequencing Primer
(F):5'- AGTCTGGCCCTGTCTGCTG -3'
(R):5'- CCGATGACAGGATTCGTGAGTTC -3'
|
Posted On |
2019-11-12 |