Incidental Mutation 'IGL03374:Atl1'
| ID |
420422 |
| 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 # |
IGL03374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
69939879-70010859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70002141 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 367
(Y367H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021466]
|
| AlphaFold |
Q8BH66 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021466
AA Change: Y367H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021466
Gene: ENSMUSG00000021066
AA Change: Y367H
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
G |
A |
1: 58,211,007 (GRCm39) |
R917Q |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,511,062 (GRCm39) |
E175G |
possibly damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,561,821 (GRCm39) |
D800E |
probably damaging |
Het |
| Cdon |
T |
A |
9: 35,389,299 (GRCm39) |
F801L |
possibly damaging |
Het |
| Dcaf13 |
C |
T |
15: 39,008,543 (GRCm39) |
Q382* |
probably null |
Het |
| Dpy19l3 |
T |
C |
7: 35,411,633 (GRCm39) |
N367S |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,714,111 (GRCm39) |
S3P |
possibly damaging |
Het |
| Fhip1b |
T |
C |
7: 105,033,158 (GRCm39) |
E57G |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,267,624 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
A |
T |
9: 69,941,695 (GRCm39) |
M291K |
possibly damaging |
Het |
| Glg1 |
T |
C |
8: 111,889,412 (GRCm39) |
D927G |
probably damaging |
Het |
| Gm5862 |
C |
A |
5: 26,224,510 (GRCm39) |
R153L |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,742,628 (GRCm39) |
T237A |
probably benign |
Het |
| Helz |
A |
T |
11: 107,510,973 (GRCm39) |
I610F |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,310,108 (GRCm39) |
E372G |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,124,964 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
G |
A |
4: 24,649,533 (GRCm39) |
|
probably benign |
Het |
| Krt74 |
T |
A |
15: 101,668,937 (GRCm39) |
|
noncoding transcript |
Het |
| Nopchap1 |
G |
A |
10: 83,201,571 (GRCm39) |
V115M |
probably damaging |
Het |
| Or14a258 |
T |
A |
7: 86,035,574 (GRCm39) |
Q98L |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,053 (GRCm39) |
L66P |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,109 (GRCm39) |
V163A |
possibly damaging |
Het |
| Pknox2 |
T |
A |
9: 36,834,966 (GRCm39) |
T168S |
probably damaging |
Het |
| Pmfbp1 |
T |
C |
8: 110,269,046 (GRCm39) |
|
probably benign |
Het |
| Sgce |
G |
A |
6: 4,689,718 (GRCm39) |
R372* |
probably null |
Het |
| Stard5 |
T |
C |
7: 83,285,980 (GRCm39) |
S102P |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,121,360 (GRCm39) |
K5941R |
possibly damaging |
Het |
| Tas2r124 |
A |
T |
6: 132,732,081 (GRCm39) |
H130L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,546,027 (GRCm39) |
E32462G |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,974 (GRCm39) |
S1647P |
probably damaging |
Het |
| Ube2d3 |
A |
G |
3: 135,165,844 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,835,145 (GRCm39) |
H1561Q |
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 |
|
IGL03282:Atl1
|
APN |
12 |
70,001,238 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
Incidental Mutation