Incidental Mutation 'IGL03127:Atl2'
ID |
410189 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atl2
|
Ensembl Gene |
ENSMUSG00000059811 |
Gene Name |
atlastin GTPase 2 |
Synonyms |
Arl6ip2, 2010110I21Rik, Aip-2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03127
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
80155819-80203552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80160283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 264
(M264V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068282]
[ENSMUST00000112437]
[ENSMUST00000222193]
[ENSMUST00000222415]
|
AlphaFold |
Q6PA06 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068282
AA Change: M435V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000064758 Gene: ENSMUSG00000059811 AA Change: M435V
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
Pfam:GBP
|
70 |
341 |
3.9e-105 |
PFAM |
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
Blast:HAMP
|
495 |
545 |
4e-8 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112437
AA Change: M264V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108056 Gene: ENSMUSG00000059811 AA Change: M264V
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
1 |
170 |
6.6e-69 |
PFAM |
Pfam:GBP_C
|
172 |
302 |
2.7e-8 |
PFAM |
Blast:HAMP
|
324 |
374 |
3e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222415
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223273
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Amdhd2 |
A |
G |
17: 24,376,712 (GRCm39) |
|
probably null |
Het |
Apol7c |
A |
G |
15: 77,410,106 (GRCm39) |
M280T |
probably benign |
Het |
Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
Dtx4 |
T |
C |
19: 12,463,864 (GRCm39) |
|
probably benign |
Het |
Dyrk4 |
G |
A |
6: 126,874,134 (GRCm39) |
T152I |
possibly damaging |
Het |
F5 |
T |
A |
1: 164,021,107 (GRCm39) |
I1194N |
probably benign |
Het |
Gadl1 |
C |
T |
9: 115,777,732 (GRCm39) |
T126M |
probably damaging |
Het |
Gcnt7 |
A |
T |
2: 172,296,331 (GRCm39) |
C110* |
probably null |
Het |
H2-M9 |
C |
T |
17: 36,951,714 (GRCm39) |
V254M |
possibly damaging |
Het |
Hadha |
A |
T |
5: 30,339,184 (GRCm39) |
|
probably benign |
Het |
Kit |
T |
C |
5: 75,801,848 (GRCm39) |
M621T |
probably benign |
Het |
Krt73 |
T |
C |
15: 101,704,275 (GRCm39) |
M422V |
probably benign |
Het |
Neil2 |
T |
C |
14: 63,429,257 (GRCm39) |
H12R |
probably benign |
Het |
Nrsn1 |
A |
G |
13: 25,437,700 (GRCm39) |
L76P |
probably damaging |
Het |
Or2y1g |
T |
G |
11: 49,171,599 (GRCm39) |
V208G |
possibly damaging |
Het |
Or8b1 |
C |
A |
9: 38,399,882 (GRCm39) |
Q186K |
probably benign |
Het |
Or8d2 |
T |
A |
9: 38,759,505 (GRCm39) |
Y32N |
probably damaging |
Het |
Pot1a |
G |
A |
6: 25,794,615 (GRCm39) |
A23V |
probably benign |
Het |
Ppp1r14d |
A |
G |
2: 119,048,841 (GRCm39) |
*147Q |
probably null |
Het |
Ptger2 |
T |
C |
14: 45,239,462 (GRCm39) |
|
probably benign |
Het |
Syne3 |
A |
T |
12: 104,909,687 (GRCm39) |
D716E |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,976,102 (GRCm39) |
N554D |
probably damaging |
Het |
Ushbp1 |
T |
A |
8: 71,847,020 (GRCm39) |
Q204L |
possibly damaging |
Het |
|
Other mutations in Atl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02135:Atl2
|
APN |
17 |
80,167,214 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02692:Atl2
|
APN |
17 |
80,172,482 (GRCm39) |
missense |
probably benign |
|
IGL03377:Atl2
|
APN |
17 |
80,172,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R0164:Atl2
|
UTSW |
17 |
80,161,260 (GRCm39) |
unclassified |
probably benign |
|
R1203:Atl2
|
UTSW |
17 |
80,160,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R1489:Atl2
|
UTSW |
17 |
80,160,135 (GRCm39) |
missense |
probably benign |
0.00 |
R1663:Atl2
|
UTSW |
17 |
80,172,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R1977:Atl2
|
UTSW |
17 |
80,160,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R2032:Atl2
|
UTSW |
17 |
80,203,373 (GRCm39) |
missense |
probably benign |
|
R4063:Atl2
|
UTSW |
17 |
80,157,588 (GRCm39) |
makesense |
probably null |
|
R5104:Atl2
|
UTSW |
17 |
80,160,046 (GRCm39) |
missense |
probably benign |
0.01 |
R5201:Atl2
|
UTSW |
17 |
80,172,580 (GRCm39) |
missense |
probably benign |
|
R5362:Atl2
|
UTSW |
17 |
80,168,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Atl2
|
UTSW |
17 |
80,160,229 (GRCm39) |
missense |
probably benign |
0.03 |
R6128:Atl2
|
UTSW |
17 |
80,172,470 (GRCm39) |
critical splice donor site |
probably null |
|
R6369:Atl2
|
UTSW |
17 |
80,161,984 (GRCm39) |
missense |
probably damaging |
0.96 |
R6416:Atl2
|
UTSW |
17 |
80,157,652 (GRCm39) |
missense |
probably benign |
0.00 |
R6597:Atl2
|
UTSW |
17 |
80,160,195 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6885:Atl2
|
UTSW |
17 |
80,159,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R7428:Atl2
|
UTSW |
17 |
80,183,227 (GRCm39) |
splice site |
probably null |
|
R7587:Atl2
|
UTSW |
17 |
80,172,496 (GRCm39) |
missense |
probably benign |
0.25 |
R7646:Atl2
|
UTSW |
17 |
80,162,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Atl2
|
UTSW |
17 |
80,167,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R7949:Atl2
|
UTSW |
17 |
80,167,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Atl2
|
UTSW |
17 |
80,163,690 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8313:Atl2
|
UTSW |
17 |
80,160,033 (GRCm39) |
nonsense |
probably null |
|
R8878:Atl2
|
UTSW |
17 |
80,160,232 (GRCm39) |
missense |
probably benign |
0.05 |
R8899:Atl2
|
UTSW |
17 |
80,183,469 (GRCm39) |
missense |
probably benign |
0.01 |
R9335:Atl2
|
UTSW |
17 |
80,160,207 (GRCm39) |
missense |
probably benign |
0.00 |
X0052:Atl2
|
UTSW |
17 |
80,160,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Posted On |
2016-08-02 |