Incidental Mutation 'R7870:Atxn2l'
ID |
608050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atxn2l
|
Ensembl Gene |
ENSMUSG00000032637 |
Gene Name |
ataxin 2-like |
Synonyms |
A2LG, A2RP, A2lp, A2D |
MMRRC Submission |
045922-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.937)
|
Stock # |
R7870 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 126091924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 968
(F968L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000098048]
[ENSMUST00000106392]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000206055]
[ENSMUST00000206265]
[ENSMUST00000206572]
[ENSMUST00000206577]
[ENSMUST00000206577]
|
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
AA Change: F968L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132959 Gene: ENSMUSG00000032637 AA Change: F968L
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 benign
Transcript: ENSMUST00000206572
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206577
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206577
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,441,505 (GRCm39) |
F171L |
probably benign |
Het |
2410137M14Rik |
A |
T |
17: 37,288,909 (GRCm39) |
C152S |
unknown |
Het |
Alb |
T |
C |
5: 90,620,488 (GRCm39) |
F533L |
possibly damaging |
Het |
Alox12b |
T |
C |
11: 69,060,135 (GRCm39) |
M616T |
possibly damaging |
Het |
Cadps2 |
G |
T |
6: 23,263,641 (GRCm39) |
H1227Q |
probably benign |
Het |
Cdh18 |
A |
T |
15: 23,474,413 (GRCm39) |
D761V |
possibly damaging |
Het |
Cdkl3 |
T |
C |
11: 51,909,284 (GRCm39) |
|
probably null |
Het |
Chrdl2 |
T |
C |
7: 99,659,249 (GRCm39) |
L9P |
unknown |
Het |
Ctr9 |
A |
G |
7: 110,651,618 (GRCm39) |
E946G |
unknown |
Het |
Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
Cyp2c67 |
A |
C |
19: 39,597,669 (GRCm39) |
M443R |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,578,486 (GRCm39) |
T3082A |
probably benign |
Het |
Flnc |
C |
T |
6: 29,454,306 (GRCm39) |
T1906I |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,637,906 (GRCm39) |
I327V |
probably benign |
Het |
Gm29106 |
T |
A |
1: 118,126,885 (GRCm39) |
N192K |
possibly damaging |
Het |
H3f3a |
A |
T |
1: 180,639,490 (GRCm39) |
M1K |
probably null |
Het |
Htt |
T |
A |
5: 35,055,891 (GRCm39) |
W2601R |
possibly damaging |
Het |
Il18r1 |
T |
A |
1: 40,530,296 (GRCm39) |
I341K |
probably benign |
Het |
Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
Lrp3 |
C |
A |
7: 34,910,922 (GRCm39) |
G41V |
probably damaging |
Het |
Lrrc9 |
G |
T |
12: 72,532,964 (GRCm39) |
K944N |
probably damaging |
Het |
Mettl21e |
T |
A |
1: 44,249,371 (GRCm39) |
E95V |
probably damaging |
Het |
Mib1 |
G |
A |
18: 10,798,446 (GRCm39) |
R769Q |
possibly damaging |
Het |
Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
Mymk |
A |
G |
2: 26,952,298 (GRCm39) |
S190P |
probably damaging |
Het |
Neb |
G |
A |
2: 52,215,761 (GRCm39) |
P182L |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,449 (GRCm39) |
Y152H |
probably damaging |
Het |
Nisch |
A |
G |
14: 30,894,052 (GRCm39) |
Y1174H |
probably damaging |
Het |
Nyap1 |
G |
C |
5: 137,733,658 (GRCm39) |
Y458* |
probably null |
Het |
Or4d5 |
A |
C |
9: 40,011,973 (GRCm39) |
V271G |
possibly damaging |
Het |
Or52z13 |
T |
A |
7: 103,247,473 (GRCm39) |
C317S |
probably damaging |
Het |
Or5h17 |
G |
A |
16: 58,820,086 (GRCm39) |
V13I |
probably benign |
Het |
Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
Patj |
G |
T |
4: 98,312,553 (GRCm39) |
G297V |
probably damaging |
Het |
Pcdh9 |
A |
T |
14: 94,124,693 (GRCm39) |
S492R |
probably damaging |
Het |
Pcyox1 |
G |
A |
6: 86,369,323 (GRCm39) |
R168C |
probably damaging |
Het |
Plbd1 |
A |
T |
6: 136,594,326 (GRCm39) |
Y308N |
possibly damaging |
Het |
Rax |
A |
G |
18: 66,071,284 (GRCm39) |
V117A |
probably benign |
Het |
Rdh9 |
C |
A |
10: 127,612,566 (GRCm39) |
N71K |
probably benign |
Het |
Sap130 |
A |
G |
18: 31,853,714 (GRCm39) |
N968S |
probably benign |
Het |
Sema5a |
A |
T |
15: 32,609,485 (GRCm39) |
I464F |
probably benign |
Het |
Sez6l |
T |
G |
5: 112,586,447 (GRCm39) |
D683A |
probably damaging |
Het |
Slit2 |
C |
A |
5: 48,459,649 (GRCm39) |
P1310T |
probably damaging |
Het |
Snap47 |
T |
C |
11: 59,328,904 (GRCm39) |
M133V |
probably benign |
Het |
Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
Srcap |
G |
A |
7: 127,159,730 (GRCm39) |
S3202N |
unknown |
Het |
Ssh2 |
T |
C |
11: 77,344,441 (GRCm39) |
W809R |
probably benign |
Het |
Stau1 |
G |
T |
2: 166,792,870 (GRCm39) |
A365D |
possibly damaging |
Het |
Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
Thbs1 |
A |
T |
2: 117,945,508 (GRCm39) |
N329I |
possibly damaging |
Het |
Tmem65 |
A |
T |
15: 58,659,010 (GRCm39) |
D184E |
probably damaging |
Het |
Trpm6 |
G |
T |
19: 18,792,605 (GRCm39) |
E676D |
probably benign |
Het |
Vdr |
T |
G |
15: 97,782,771 (GRCm39) |
D17A |
possibly damaging |
Het |
Vmn1r123 |
C |
T |
7: 20,896,192 (GRCm39) |
T28I |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,079,513 (GRCm39) |
L207P |
probably damaging |
Het |
Zfp354c |
TGTCACACTCG |
TG |
11: 50,706,065 (GRCm39) |
|
probably benign |
Het |
Zfp598 |
A |
G |
17: 24,898,304 (GRCm39) |
E402G |
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 |
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 |
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'- GATCACAACTGAGCGAGGAC -3'
(R):5'- AAACTGGAGTCACAGCAGC -3'
Sequencing Primer
(F):5'- CCAGGAGCAAGCCCCTG -3'
(R):5'- CCAGGTGATGCTGCTGC -3'
|
Posted On |
2019-12-20 |