Incidental Mutation 'IGL03344:Atxn7l1'
| ID |
417382 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn7l1
|
| Ensembl Gene |
ENSMUSG00000020564 |
| Gene Name |
ataxin 7-like 1 |
| Synonyms |
2810423G08Rik, Atxn7l4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL03344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
33197692-33423184 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33376065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 47
(N47D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090597]
[ENSMUST00000125192]
[ENSMUST00000136644]
[ENSMUST00000144586]
[ENSMUST00000154742]
[ENSMUST00000146040]
|
| AlphaFold |
Q9CZ05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090597
AA Change: N47D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088085
Gene: ENSMUSG00000020564
AA Change: N47D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
143 |
220 |
2.5e-31 |
PFAM |
|
low complexity region
|
274 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
538 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125192
AA Change: N143D
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118777
Gene: ENSMUSG00000020564
AA Change: N143D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
246 |
314 |
2e-28 |
PFAM |
|
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
597 |
N/A |
INTRINSIC |
|
low complexity region
|
615 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
810 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133549
|
| SMART Domains |
Protein: ENSMUSP00000120569
Gene: ENSMUSG00000020564
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136644
AA Change: N120D
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144586
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145589
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154742
AA Change: N47D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122982
Gene: ENSMUSG00000020564
AA Change: N47D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
150 |
218 |
1.3e-31 |
PFAM |
|
low complexity region
|
274 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
696 |
714 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146040
AA Change: N143D
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122156
Gene: ENSMUSG00000020564
AA Change: N143D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
206 |
N/A |
INTRINSIC |
|
Pfam:SCA7
|
246 |
314 |
2.3e-28 |
PFAM |
|
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
590 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
699 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
736 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
912 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155386
|
| SMART Domains |
Protein: ENSMUSP00000115463
Gene: ENSMUSG00000020564
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
33 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
| Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,904 (GRCm39) |
P12S |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Deaf1 |
A |
T |
7: 140,877,461 (GRCm39) |
H555Q |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
| Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
| Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
| Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
| Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
| Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
| Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
| Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,482 (GRCm39) |
D121G |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
| Serpina3c |
T |
C |
12: 104,113,523 (GRCm39) |
I408V |
probably benign |
Het |
| Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,106 (GRCm39) |
M299T |
probably benign |
Het |
| Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
| Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vegfc |
T |
A |
8: 54,610,186 (GRCm39) |
I114N |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
| Other mutations in Atxn7l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02130:Atxn7l1
|
APN |
12 |
33,392,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Atxn7l1
|
APN |
12 |
33,418,030 (GRCm39) |
missense |
probably benign |
|
|
IGL02202:Atxn7l1
|
APN |
12 |
33,392,077 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02804:Atxn7l1
|
APN |
12 |
33,417,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Atxn7l1
|
UTSW |
12 |
33,392,150 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0621:Atxn7l1
|
UTSW |
12 |
33,376,099 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1840:Atxn7l1
|
UTSW |
12 |
33,421,032 (GRCm39) |
splice site |
probably null |
|
|
R1856:Atxn7l1
|
UTSW |
12 |
33,408,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Atxn7l1
|
UTSW |
12 |
33,408,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Atxn7l1
|
UTSW |
12 |
33,395,976 (GRCm39) |
missense |
probably benign |
|
|
R2249:Atxn7l1
|
UTSW |
12 |
33,408,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2369:Atxn7l1
|
UTSW |
12 |
33,408,849 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3695:Atxn7l1
|
UTSW |
12 |
33,408,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3856:Atxn7l1
|
UTSW |
12 |
33,417,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3976:Atxn7l1
|
UTSW |
12 |
33,375,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4151:Atxn7l1
|
UTSW |
12 |
33,414,481 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4301:Atxn7l1
|
UTSW |
12 |
33,417,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4305:Atxn7l1
|
UTSW |
12 |
33,391,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4411:Atxn7l1
|
UTSW |
12 |
33,244,886 (GRCm39) |
intron |
probably benign |
|
|
R4763:Atxn7l1
|
UTSW |
12 |
33,408,877 (GRCm39) |
intron |
probably benign |
|
|
R5049:Atxn7l1
|
UTSW |
12 |
33,408,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5090:Atxn7l1
|
UTSW |
12 |
33,376,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Atxn7l1
|
UTSW |
12 |
33,422,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5425:Atxn7l1
|
UTSW |
12 |
33,417,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6161:Atxn7l1
|
UTSW |
12 |
33,408,662 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6813:Atxn7l1
|
UTSW |
12 |
33,417,123 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7248:Atxn7l1
|
UTSW |
12 |
33,417,194 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7328:Atxn7l1
|
UTSW |
12 |
33,198,502 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8020:Atxn7l1
|
UTSW |
12 |
33,375,952 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8057:Atxn7l1
|
UTSW |
12 |
33,376,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8353:Atxn7l1
|
UTSW |
12 |
33,197,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8523:Atxn7l1
|
UTSW |
12 |
33,396,023 (GRCm39) |
missense |
probably benign |
|
|
R9051:Atxn7l1
|
UTSW |
12 |
33,417,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9350:Atxn7l1
|
UTSW |
12 |
33,417,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9789:Atxn7l1
|
UTSW |
12 |
33,396,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Atxn7l1
|
UTSW |
12 |
33,418,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Atxn7l1
|
UTSW |
12 |
33,417,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation