Incidental Mutation 'IGL03282:Atl1'
ID |
415618 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atl1
|
Ensembl Gene |
ENSMUSG00000021066 |
Gene Name |
atlastin GTPase 1 |
Synonyms |
AD-FSP, Spg3a, FSP1, SPG3 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
IGL03282
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69939879-70010859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70001238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 333
(I333M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021466
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021466]
|
AlphaFold |
Q8BH66 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021466
AA Change: I333M
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021466 Gene: ENSMUSG00000021066 AA Change: I333M
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
Pfam:GBP
|
43 |
314 |
2.3e-103 |
PFAM |
low complexity region
|
350 |
363 |
N/A |
INTRINSIC |
Blast:HAMP
|
468 |
519 |
9e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222141
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222246
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010] PHENOTYPE: Homozygous animals show a gait disturbance characterized by external rotation of the hind feet with footprint analysis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2 |
A |
G |
5: 121,923,298 (GRCm39) |
T52A |
probably benign |
Het |
Atxn7 |
T |
A |
14: 14,100,564 (GRCm38) |
L750H |
probably damaging |
Het |
Cadps |
T |
C |
14: 12,465,856 (GRCm38) |
|
probably benign |
Het |
Cts6 |
T |
A |
13: 61,344,261 (GRCm39) |
I264F |
possibly damaging |
Het |
Dnah6 |
G |
T |
6: 73,030,630 (GRCm39) |
|
probably benign |
Het |
Epg5 |
A |
G |
18: 78,029,641 (GRCm39) |
S1335G |
probably benign |
Het |
Gm10073 |
A |
T |
8: 107,299,972 (GRCm39) |
V4D |
probably benign |
Het |
Gpld1 |
T |
A |
13: 25,155,391 (GRCm39) |
M342K |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,358,741 (GRCm39) |
F2607L |
probably benign |
Het |
Ighv2-9-1 |
T |
C |
12: 113,733,485 (GRCm39) |
Y112C |
probably damaging |
Het |
Itga4 |
A |
T |
2: 79,155,938 (GRCm39) |
H968L |
probably damaging |
Het |
Me1 |
C |
T |
9: 86,495,649 (GRCm39) |
R286Q |
probably damaging |
Het |
Med1 |
G |
A |
11: 98,047,643 (GRCm39) |
T1051M |
probably damaging |
Het |
Msh2 |
T |
G |
17: 87,996,430 (GRCm39) |
D379E |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,958,547 (GRCm39) |
M118L |
possibly damaging |
Het |
Ostm1 |
A |
T |
10: 42,574,227 (GRCm39) |
S152C |
probably damaging |
Het |
Pla2g1b |
A |
G |
5: 115,608,939 (GRCm39) |
N45D |
probably damaging |
Het |
Rab21 |
A |
G |
10: 115,134,803 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
G |
A |
2: 72,036,096 (GRCm39) |
|
probably benign |
Het |
Slc38a8 |
G |
T |
8: 120,226,455 (GRCm39) |
N111K |
probably damaging |
Het |
Snrnp35 |
A |
G |
5: 124,628,372 (GRCm39) |
T62A |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,673,992 (GRCm39) |
I540V |
probably benign |
Het |
Tgm1 |
A |
G |
14: 55,948,527 (GRCm39) |
V208A |
probably damaging |
Het |
Vmn1r62 |
A |
T |
7: 5,678,547 (GRCm39) |
D76V |
possibly damaging |
Het |
Vmn1r90 |
T |
A |
7: 14,295,426 (GRCm39) |
H224L |
probably benign |
Het |
Vmn1r90 |
A |
T |
7: 14,296,093 (GRCm39) |
S2T |
possibly damaging |
Het |
|
Other mutations in Atl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00824:Atl1
|
APN |
12 |
69,979,012 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02035:Atl1
|
APN |
12 |
70,007,318 (GRCm39) |
unclassified |
probably benign |
|
IGL02229:Atl1
|
APN |
12 |
69,972,799 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03374:Atl1
|
APN |
12 |
70,002,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R1538:Atl1
|
UTSW |
12 |
69,972,962 (GRCm39) |
missense |
probably benign |
0.02 |
R1819:Atl1
|
UTSW |
12 |
70,010,074 (GRCm39) |
missense |
probably benign |
|
R1903:Atl1
|
UTSW |
12 |
70,006,049 (GRCm39) |
missense |
probably damaging |
0.98 |
R1961:Atl1
|
UTSW |
12 |
70,000,274 (GRCm39) |
missense |
probably benign |
0.00 |
R1990:Atl1
|
UTSW |
12 |
70,010,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R2126:Atl1
|
UTSW |
12 |
69,978,431 (GRCm39) |
splice site |
probably null |
|
R3724:Atl1
|
UTSW |
12 |
70,006,154 (GRCm39) |
missense |
probably damaging |
0.99 |
R4402:Atl1
|
UTSW |
12 |
70,005,973 (GRCm39) |
missense |
probably benign |
0.09 |
R5241:Atl1
|
UTSW |
12 |
70,005,887 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5256:Atl1
|
UTSW |
12 |
70,006,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R5285:Atl1
|
UTSW |
12 |
70,001,273 (GRCm39) |
missense |
probably benign |
0.18 |
R5866:Atl1
|
UTSW |
12 |
69,972,785 (GRCm39) |
missense |
probably damaging |
0.98 |
R6001:Atl1
|
UTSW |
12 |
69,979,057 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6434:Atl1
|
UTSW |
12 |
70,006,199 (GRCm39) |
nonsense |
probably null |
|
R6677:Atl1
|
UTSW |
12 |
70,000,218 (GRCm39) |
missense |
probably damaging |
0.99 |
R6728:Atl1
|
UTSW |
12 |
69,994,324 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6974:Atl1
|
UTSW |
12 |
69,972,813 (GRCm39) |
missense |
probably damaging |
0.99 |
R7013:Atl1
|
UTSW |
12 |
70,000,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Atl1
|
UTSW |
12 |
69,978,408 (GRCm39) |
missense |
probably damaging |
0.99 |
R7224:Atl1
|
UTSW |
12 |
70,002,127 (GRCm39) |
missense |
probably benign |
|
R7437:Atl1
|
UTSW |
12 |
69,978,396 (GRCm39) |
missense |
probably benign |
0.37 |
R8043:Atl1
|
UTSW |
12 |
70,005,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R8319:Atl1
|
UTSW |
12 |
70,002,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R8843:Atl1
|
UTSW |
12 |
69,972,922 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Atl1
|
UTSW |
12 |
69,983,849 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2016-08-02 |