Incidental Mutation 'R0267:Atxn2l'
| ID |
35001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn2l
|
| Ensembl Gene |
ENSMUSG00000032637 |
| Gene Name |
ataxin 2-like |
| Synonyms |
A2lp, A2D, A2RP, A2LG |
| MMRRC Submission |
038493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R0267 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126491708-126503437 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 126493207 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 950
(Q950P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000098048]
[ENSMUST00000106392]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000206055]
[ENSMUST00000206265]
[ENSMUST00000206572]
[ENSMUST00000206577]
|
| AlphaFold |
Q7TQH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040202
AA Change: Q956P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: Q956P
| 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 damaging
Transcript: ENSMUST00000166682
AA Change: Q836P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: Q836P
| 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: Q870P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: Q870P
| 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 |
noncoding transcript
Transcript: ENSMUST00000205346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206055
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206265
AA Change: Q57P
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206572
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206577
AA Change: Q950P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1068 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.7%
- 10x: 96.2%
- 20x: 94.0%
|
| Validation Efficiency |
97% (64/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,105 (GRCm38) |
F1721S |
probably damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,529,389 (GRCm38) |
R78H |
probably damaging |
Het |
| Adgrd1 |
G |
A |
5: 129,139,594 (GRCm38) |
A342T |
probably benign |
Het |
| Adrb1 |
A |
T |
19: 56,723,491 (GRCm38) |
K374* |
probably null |
Het |
| Aldh18a1 |
C |
A |
19: 40,573,789 (GRCm38) |
V264F |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,522,687 (GRCm38) |
|
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,346,153 (GRCm38) |
H393L |
probably damaging |
Het |
| Aox2 |
A |
G |
1: 58,339,446 (GRCm38) |
|
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,201,462 (GRCm38) |
Y297C |
probably damaging |
Het |
| Bicd1 |
A |
T |
6: 149,517,042 (GRCm38) |
D737V |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,467,458 (GRCm38) |
I212T |
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,117,044 (GRCm38) |
|
probably benign |
Het |
| Chst1 |
C |
A |
2: 92,613,606 (GRCm38) |
P141Q |
probably damaging |
Het |
| Cped1 |
T |
A |
6: 22,119,476 (GRCm38) |
F311L |
probably damaging |
Het |
| D6Wsu163e |
T |
A |
6: 126,946,491 (GRCm38) |
H113Q |
probably benign |
Het |
| Dcn |
A |
T |
10: 97,506,483 (GRCm38) |
|
probably benign |
Het |
| Dmbx1 |
C |
T |
4: 115,918,112 (GRCm38) |
A324T |
probably benign |
Het |
| Dock10 |
G |
T |
1: 80,512,454 (GRCm38) |
Q1618K |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,917,272 (GRCm38) |
E443G |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,313,017 (GRCm38) |
V953A |
possibly damaging |
Het |
| Exosc10 |
T |
C |
4: 148,562,756 (GRCm38) |
L174P |
probably damaging |
Het |
| Foxg1 |
A |
G |
12: 49,385,582 (GRCm38) |
Y366C |
probably damaging |
Het |
| Fxyd3 |
T |
C |
7: 31,070,734 (GRCm38) |
|
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,630,106 (GRCm38) |
V189A |
probably benign |
Het |
| Gins4 |
T |
C |
8: 23,229,410 (GRCm38) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,988,122 (GRCm38) |
T3A |
probably benign |
Het |
| Gnb1l |
T |
C |
16: 18,548,089 (GRCm38) |
|
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,491,497 (GRCm38) |
L295S |
probably damaging |
Het |
| Hrh4 |
C |
A |
18: 13,022,398 (GRCm38) |
Y331* |
probably null |
Het |
| Hsd11b1 |
A |
T |
1: 193,241,397 (GRCm38) |
Y52N |
probably damaging |
Het |
| Jam3 |
A |
G |
9: 27,106,405 (GRCm38) |
I29T |
probably benign |
Het |
| Kctd16 |
T |
A |
18: 40,530,877 (GRCm38) |
I353N |
probably benign |
Het |
| Lama4 |
G |
T |
10: 39,028,639 (GRCm38) |
G246C |
probably damaging |
Het |
| Lhx3 |
T |
A |
2: 26,203,028 (GRCm38) |
M137L |
probably benign |
Het |
| Morc2a |
T |
C |
11: 3,678,567 (GRCm38) |
I340T |
probably benign |
Het |
| Myo7a |
A |
C |
7: 98,054,624 (GRCm38) |
I1969S |
probably benign |
Het |
| Olfr1471 |
T |
A |
19: 13,445,428 (GRCm38) |
C139S |
probably damaging |
Het |
| Olfr304 |
T |
C |
7: 86,386,267 (GRCm38) |
E131G |
possibly damaging |
Het |
| Olfr429 |
A |
G |
1: 174,089,166 (GRCm38) |
N42S |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,681,180 (GRCm38) |
L3232P |
unknown |
Het |
| Polr1a |
T |
G |
6: 71,974,139 (GRCm38) |
I1407M |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,728,997 (GRCm38) |
V817A |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,495,240 (GRCm38) |
T280A |
probably benign |
Het |
| Rfx3 |
T |
C |
19: 27,793,788 (GRCm38) |
D521G |
probably benign |
Het |
| Scn5a |
C |
T |
9: 119,543,135 (GRCm38) |
V223I |
probably damaging |
Het |
| Sgsm3 |
T |
G |
15: 81,006,602 (GRCm38) |
M119R |
probably damaging |
Het |
| Slc6a7 |
T |
A |
18: 60,996,711 (GRCm38) |
M608L |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,182,331 (GRCm38) |
|
probably benign |
Het |
| Steap2 |
T |
A |
5: 5,673,561 (GRCm38) |
I440F |
probably benign |
Het |
| Syn2 |
T |
G |
6: 115,254,150 (GRCm38) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,941,495 (GRCm38) |
R311H |
probably benign |
Het |
| Tfb2m |
G |
A |
1: 179,533,638 (GRCm38) |
H262Y |
probably benign |
Het |
| Trmt1l |
A |
G |
1: 151,457,675 (GRCm38) |
|
probably benign |
Het |
| Trpm6 |
C |
A |
19: 18,823,378 (GRCm38) |
P819T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,743,689 (GRCm38) |
A25620V |
probably damaging |
Het |
| Ubn2 |
T |
C |
6: 38,482,618 (GRCm38) |
|
probably null |
Het |
| Vars |
T |
C |
17: 35,011,596 (GRCm38) |
|
probably benign |
Het |
| Vip |
A |
T |
10: 5,644,004 (GRCm38) |
D119V |
possibly damaging |
Het |
| Vmn2r92 |
C |
T |
17: 18,167,957 (GRCm38) |
A408V |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 80,286,054 (GRCm38) |
I405T |
possibly damaging |
Het |
| Zbtb21 |
T |
A |
16: 97,952,100 (GRCm38) |
S356C |
probably damaging |
Het |
| Zdhhc6 |
A |
T |
19: 55,308,930 (GRCm38) |
S237T |
probably benign |
Het |
| Zfp142 |
G |
A |
1: 74,576,064 (GRCm38) |
A427V |
probably benign |
Het |
| Zfp692 |
T |
A |
11: 58,314,314 (GRCm38) |
V463E |
possibly damaging |
Het |
| Zmynd8 |
A |
T |
2: 165,828,402 (GRCm38) |
I384N |
probably damaging |
Het |
|
| Other mutations in Atxn2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Atxn2l
|
APN |
7 |
126,498,288 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00507:Atxn2l
|
APN |
7 |
126,496,584 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL00846:Atxn2l
|
APN |
7 |
126,499,178 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01813:Atxn2l
|
APN |
7 |
126,500,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Atxn2l
|
UTSW |
7 |
126,497,271 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0005:Atxn2l
|
UTSW |
7 |
126,498,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0608:Atxn2l
|
UTSW |
7 |
126,501,416 (GRCm38) |
splice site |
probably null |
|
|
R0749:Atxn2l
|
UTSW |
7 |
126,500,837 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R0831:Atxn2l
|
UTSW |
7 |
126,499,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0881:Atxn2l
|
UTSW |
7 |
126,496,596 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1022:Atxn2l
|
UTSW |
7 |
126,497,294 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1024:Atxn2l
|
UTSW |
7 |
126,497,294 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1081:Atxn2l
|
UTSW |
7 |
126,494,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1132:Atxn2l
|
UTSW |
7 |
126,494,248 (GRCm38) |
small deletion |
probably benign |
|
|
R1489:Atxn2l
|
UTSW |
7 |
126,496,467 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1919:Atxn2l
|
UTSW |
7 |
126,493,168 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2062:Atxn2l
|
UTSW |
7 |
126,495,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2170:Atxn2l
|
UTSW |
7 |
126,503,239 (GRCm38) |
start gained |
probably benign |
|
|
R3719:Atxn2l
|
UTSW |
7 |
126,498,130 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3861:Atxn2l
|
UTSW |
7 |
126,501,951 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5061:Atxn2l
|
UTSW |
7 |
126,500,203 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6022:Atxn2l
|
UTSW |
7 |
126,496,435 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6075:Atxn2l
|
UTSW |
7 |
126,492,517 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R6131:Atxn2l
|
UTSW |
7 |
126,503,165 (GRCm38) |
unclassified |
probably benign |
|
|
R6460:Atxn2l
|
UTSW |
7 |
126,494,248 (GRCm38) |
small deletion |
probably benign |
|
|
R6552:Atxn2l
|
UTSW |
7 |
126,493,821 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R7167:Atxn2l
|
UTSW |
7 |
126,499,222 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7234:Atxn2l
|
UTSW |
7 |
126,493,201 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7301:Atxn2l
|
UTSW |
7 |
126,494,211 (GRCm38) |
nonsense |
probably null |
|
|
R7432:Atxn2l
|
UTSW |
7 |
126,493,874 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R7691:Atxn2l
|
UTSW |
7 |
126,492,610 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R7711:Atxn2l
|
UTSW |
7 |
126,501,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7849:Atxn2l
|
UTSW |
7 |
126,493,173 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7870:Atxn2l
|
UTSW |
7 |
126,492,752 (GRCm38) |
missense |
probably benign |
|
|
R8907:Atxn2l
|
UTSW |
7 |
126,500,253 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8929:Atxn2l
|
UTSW |
7 |
126,493,756 (GRCm38) |
splice site |
probably benign |
|
|
R8949:Atxn2l
|
UTSW |
7 |
126,492,205 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8982:Atxn2l
|
UTSW |
7 |
126,494,248 (GRCm38) |
small deletion |
probably benign |
|
|
R9021:Atxn2l
|
UTSW |
7 |
126,495,540 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9127:Atxn2l
|
UTSW |
7 |
126,498,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9769:Atxn2l
|
UTSW |
7 |
126,496,520 (GRCm38) |
missense |
probably benign |
0.00 |
|
RF006:Atxn2l
|
UTSW |
7 |
126,495,891 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCAACGAGAGGTTCTGAGATCC -3'
(R):5'- GCAGCCACTGTTCACCAATCCTATC -3'
Sequencing Primer
(F):5'- GGTTCTGAGATCCCTTATCAAAGC -3'
(R):5'- AAAGAGCTGGGTCATTCTCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation