Incidental Mutation 'R1081:Atxn2l'
| ID |
152699 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atxn2l
|
| Ensembl Gene |
ENSMUSG00000032637 |
| Gene Name |
ataxin 2-like |
| Synonyms |
A2LG, A2RP, A2lp, A2D |
| MMRRC Submission |
039167-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R1081 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126090880-126102609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126093384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 785
(Y785C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040202]
[ENSMUST00000098048]
[ENSMUST00000106392]
[ENSMUST00000166682]
[ENSMUST00000167759]
[ENSMUST00000179818]
[ENSMUST00000206055]
[ENSMUST00000206577]
[ENSMUST00000206572]
[ENSMUST00000206265]
|
| AlphaFold |
Q7TQH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040202
AA Change: Y791C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637
AA Change: Y791C
| 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: Y671C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125881
Gene: ENSMUSG00000032637
AA Change: Y671C
| 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: Y705C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637
AA Change: Y705C
| 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: ENSMUST00000206055
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206577
AA Change: Y785C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206265
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
A |
G |
6: 83,139,002 (GRCm39) |
E309G |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,441 (GRCm39) |
K448E |
probably damaging |
Het |
| Atxn3 |
T |
G |
12: 101,900,608 (GRCm39) |
D225A |
probably damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,612,520 (GRCm39) |
D853G |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,975,703 (GRCm39) |
Y1449H |
probably damaging |
Het |
| Dsc2 |
T |
G |
18: 20,166,352 (GRCm39) |
T760P |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,005,488 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
C |
18: 78,002,748 (GRCm39) |
F611L |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 16,286,580 (GRCm39) |
D981G |
possibly damaging |
Het |
| Gimap3 |
A |
T |
6: 48,742,086 (GRCm39) |
C281* |
probably null |
Het |
| Ids |
T |
C |
X: 69,404,716 (GRCm39) |
D149G |
possibly damaging |
Het |
| Inpp4b |
A |
G |
8: 82,795,653 (GRCm39) |
I826V |
probably damaging |
Het |
| Kcnrg |
C |
A |
14: 61,845,163 (GRCm39) |
H68N |
possibly damaging |
Het |
| Klra6 |
A |
G |
6: 129,999,588 (GRCm39) |
Y127H |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,412,967 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,782,958 (GRCm39) |
L456P |
probably damaging |
Het |
| Mink1 |
T |
C |
11: 70,497,861 (GRCm39) |
L488P |
probably benign |
Het |
| Mndal |
T |
A |
1: 173,687,788 (GRCm39) |
E482V |
probably benign |
Het |
| Mob1b |
G |
A |
5: 88,901,021 (GRCm39) |
V143I |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,577,995 (GRCm39) |
E433G |
probably benign |
Het |
| Myof |
A |
T |
19: 37,974,536 (GRCm39) |
I201N |
probably damaging |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Ntsr1 |
G |
A |
2: 180,180,549 (GRCm39) |
S285N |
probably benign |
Het |
| Or2ak6 |
C |
T |
11: 58,593,324 (GRCm39) |
H266Y |
probably damaging |
Het |
| Or4k2 |
A |
G |
14: 50,424,654 (GRCm39) |
S7P |
probably damaging |
Het |
| Or51b4 |
T |
A |
7: 103,531,384 (GRCm39) |
H22L |
possibly damaging |
Het |
| Or52ab7 |
A |
G |
7: 102,978,245 (GRCm39) |
Y184C |
probably damaging |
Het |
| P2rx4 |
A |
G |
5: 122,865,296 (GRCm39) |
E307G |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,145 (GRCm39) |
D793G |
probably damaging |
Het |
| Rpap1 |
G |
A |
2: 119,601,750 (GRCm39) |
R737W |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,186,384 (GRCm39) |
K307E |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 58,963,447 (GRCm39) |
T623S |
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,515,343 (GRCm39) |
C397R |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,886 (GRCm39) |
F646S |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,330,304 (GRCm39) |
E196G |
possibly damaging |
Het |
| Tcf25 |
T |
C |
8: 124,108,212 (GRCm39) |
V89A |
probably benign |
Het |
| Trim7 |
G |
T |
11: 48,740,532 (GRCm39) |
V210L |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,077,635 (GRCm39) |
M177T |
possibly damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,392,779 (GRCm39) |
I152V |
possibly damaging |
Het |
| Zfp628 |
A |
G |
7: 4,923,182 (GRCm39) |
H468R |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,608 (GRCm39) |
Y154H |
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 |
|
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 |
|
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'- CCGAGAGCAAAGGTTCAATGTCCTG -3'
(R):5'- AGCCCAAGAAAAGTGCTGATTGTCC -3'
Sequencing Primer
(F):5'- CCTGTTACAGGAATTCAAGTGGAC -3'
(R):5'- GAAAAGTGCTGATTGTCCAGCTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation