Incidental Mutation 'IGL02035:Atl1'
| ID |
184506 |
| 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 # |
IGL02035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69939879-70010859 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 70007318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021466]
[ENSMUST00000021467]
|
| AlphaFold |
Q8BH66 |
| PDB Structure |
Solution structure of the second WW domain from mouse salvador homolog 1 protein (mWW45) [SOLUTION NMR]
Solution structure of the first WW domain from the mouse salvador homolog 1 protein (SAV1) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021466
|
| SMART Domains |
Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
| 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 |
probably benign
Transcript: ENSMUST00000021467
|
| SMART Domains |
Protein: ENSMUSP00000021467
Gene: ENSMUSG00000021067
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
201 |
233 |
1.63e-8 |
SMART |
|
WW
|
236 |
268 |
4.98e-4 |
SMART |
|
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
|
coiled coil region
|
345 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000110560
|
| SMART Domains |
Protein: ENSMUSP00000106189
Gene: ENSMUSG00000079076
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TIP49
|
1 |
58 |
3.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220735
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,593,579 (GRCm39) |
I1135N |
probably benign |
Het |
| Atr |
A |
G |
9: 95,748,735 (GRCm39) |
N427D |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,375 (GRCm39) |
|
probably null |
Het |
| Cnot4 |
A |
T |
6: 35,047,186 (GRCm39) |
V142D |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,425 (GRCm39) |
V265E |
probably damaging |
Het |
| Ddx27 |
G |
T |
2: 166,871,432 (GRCm39) |
V510F |
probably benign |
Het |
| Elac2 |
A |
G |
11: 64,892,661 (GRCm39) |
S822G |
probably benign |
Het |
| Fat3 |
A |
T |
9: 16,289,266 (GRCm39) |
F86I |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,177,282 (GRCm39) |
|
probably null |
Het |
| Fgd4 |
C |
T |
16: 16,308,280 (GRCm39) |
|
probably benign |
Het |
| Furin |
T |
C |
7: 80,040,735 (GRCm39) |
E701G |
probably benign |
Het |
| Fzd2 |
A |
G |
11: 102,497,270 (GRCm39) |
*571W |
probably null |
Het |
| Gm9 |
A |
T |
X: 36,474,544 (GRCm39) |
H3Q |
probably benign |
Het |
| Jak2 |
T |
C |
19: 29,263,808 (GRCm39) |
V441A |
probably benign |
Het |
| Kcnj3 |
T |
A |
2: 55,327,590 (GRCm39) |
N126K |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,305,365 (GRCm39) |
E147G |
probably damaging |
Het |
| Magt1 |
G |
T |
X: 105,027,382 (GRCm39) |
|
probably null |
Het |
| Nkx6-2 |
A |
T |
7: 139,161,601 (GRCm39) |
W195R |
probably damaging |
Het |
| Nt5c1a |
A |
T |
4: 123,107,895 (GRCm39) |
S193C |
possibly damaging |
Het |
| Or6c216 |
A |
G |
10: 129,678,659 (GRCm39) |
L84P |
possibly damaging |
Het |
| Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
| Pecam1 |
C |
T |
11: 106,586,685 (GRCm39) |
A277T |
probably benign |
Het |
| Polr1c |
A |
G |
17: 46,557,085 (GRCm39) |
V66A |
possibly damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,251 (GRCm39) |
V711A |
probably benign |
Het |
| Prr35 |
G |
T |
17: 26,166,136 (GRCm39) |
H384N |
probably benign |
Het |
| Sbp |
A |
G |
17: 24,161,586 (GRCm39) |
N19S |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,071,412 (GRCm39) |
T87A |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,208 (GRCm39) |
I184N |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,354 (GRCm39) |
|
probably benign |
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 |
|
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 |
2014-05-07 |
Incidental Mutation