Incidental Mutation 'IGL00824:Atl1'
ID |
9122 |
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 # |
IGL00824
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69939879-70010859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 69979012 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 147
(T147A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021466
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021466]
[ENSMUST00000223456]
|
AlphaFold |
Q8BH66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021466
AA Change: T147A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021466 Gene: ENSMUSG00000021066 AA Change: T147A
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: ENSMUST00000083393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222141
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223456
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cdh17 |
A |
G |
4: 11,784,675 (GRCm39) |
K277R |
probably benign |
Het |
Cyp2j5 |
A |
G |
4: 96,552,160 (GRCm39) |
F30L |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,532,485 (GRCm39) |
V3134E |
probably damaging |
Het |
Il2ra |
T |
C |
2: 11,687,910 (GRCm39) |
V230A |
probably benign |
Het |
Mgst2 |
C |
T |
3: 51,589,999 (GRCm39) |
P146S |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,685,264 (GRCm39) |
|
probably benign |
Het |
Nat8f5 |
A |
C |
6: 85,794,279 (GRCm39) |
L227R |
probably damaging |
Het |
Osbpl2 |
G |
A |
2: 179,792,060 (GRCm39) |
V255M |
probably benign |
Het |
Papln |
A |
G |
12: 83,817,210 (GRCm39) |
S27G |
possibly damaging |
Het |
Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,151,408 (GRCm39) |
|
probably null |
Het |
Plrg1 |
C |
T |
3: 82,975,642 (GRCm39) |
T295I |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,670 (GRCm39) |
I837V |
possibly damaging |
Het |
Sypl1 |
T |
A |
12: 33,015,505 (GRCm39) |
|
probably benign |
Het |
Tmco3 |
T |
A |
8: 13,342,825 (GRCm39) |
V187E |
probably damaging |
Het |
Trmt2b |
T |
C |
X: 133,168,154 (GRCm39) |
I47M |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,438 (GRCm39) |
N350K |
probably benign |
Het |
Zfp687 |
A |
G |
3: 94,916,496 (GRCm39) |
L842P |
probably damaging |
Het |
|
Other mutations in Atl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02035:Atl1
|
APN |
12 |
70,007,318 (GRCm39) |
unclassified |
probably benign |
|
IGL02229:Atl1
|
APN |
12 |
69,972,799 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03282:Atl1
|
APN |
12 |
70,001,238 (GRCm39) |
missense |
possibly damaging |
0.87 |
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 |
2012-12-06 |