Incidental Mutation 'IGL03284:Atxn7l3b'
| ID |
415666 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atxn7l3b
|
| Ensembl Gene |
ENSMUSG00000074748 |
| Gene Name |
ataxin 7-like 3B |
| Synonyms |
ENSMUSG00000074747, 4921506J03Rik, 6230409E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL03284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
112761335-112764906 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112764431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 66
(D66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099276]
|
| AlphaFold |
Q3UD01 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099276
AA Change: D66G
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180464
|
| SMART Domains |
Protein: ENSMUSP00000137774
Gene: ENSMUSG00000097185
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
148 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
T |
8: 25,276,354 (GRCm39) |
|
probably benign |
Het |
| Dmac2 |
T |
C |
7: 25,321,851 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
A |
G |
4: 136,388,827 (GRCm39) |
M590T |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,456,747 (GRCm39) |
R474H |
probably damaging |
Het |
| Fcgbp |
G |
T |
7: 27,784,857 (GRCm39) |
A306S |
possibly damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,673,786 (GRCm39) |
I238V |
possibly damaging |
Het |
| Hmg20a |
A |
G |
9: 56,388,901 (GRCm39) |
D156G |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,887,905 (GRCm39) |
V1168A |
probably damaging |
Het |
| Oog2 |
A |
G |
4: 143,923,177 (GRCm39) |
|
probably benign |
Het |
| Pate12 |
T |
A |
9: 36,344,759 (GRCm39) |
C96S |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,914 (GRCm39) |
|
probably benign |
Het |
| Psmd6 |
A |
T |
14: 14,112,546 (GRCm38) |
N351K |
probably benign |
Het |
| Ralgps1 |
T |
C |
2: 33,036,577 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
C |
T |
2: 157,035,989 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
G |
A |
9: 110,004,142 (GRCm39) |
V399I |
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,897,045 (GRCm39) |
V99F |
probably damaging |
Het |
| Styxl1 |
A |
G |
5: 135,785,949 (GRCm39) |
V32A |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,953,022 (GRCm39) |
V673I |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,577,173 (GRCm39) |
D390E |
probably benign |
Het |
|
| Other mutations in Atxn7l3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0189:Atxn7l3b
|
UTSW |
10 |
112,764,485 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1902:Atxn7l3b
|
UTSW |
10 |
112,764,578 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4193:Atxn7l3b
|
UTSW |
10 |
112,764,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4956:Atxn7l3b
|
UTSW |
10 |
112,764,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4989:Atxn7l3b
|
UTSW |
10 |
112,764,649 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8344:Atxn7l3b
|
UTSW |
10 |
112,764,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Atxn7l3b
|
UTSW |
10 |
112,764,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Atxn7l3b
|
UTSW |
10 |
112,764,359 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2016-08-02 |
Incidental Mutation