Incidental Mutation 'R6677:Atl1'
ID |
527324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atl1
|
Ensembl Gene |
ENSMUSG00000021066 |
Gene Name |
atlastin GTPase 1 |
Synonyms |
AD-FSP, Spg3a, FSP1, SPG3 |
MMRRC Submission |
044796-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.318)
|
Stock # |
R6677 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
69939879-70010859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70000218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 289
(I289M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021466
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021466]
|
AlphaFold |
Q8BH66 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021466
AA Change: I289M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021466 Gene: ENSMUSG00000021066 AA Change: I289M
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (31/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
G |
T |
8: 87,261,381 (GRCm39) |
H713Q |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,079,869 (GRCm39) |
T1874A |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,618,311 (GRCm39) |
D654G |
probably damaging |
Het |
Bbox1 |
C |
A |
2: 110,135,770 (GRCm39) |
D70Y |
probably damaging |
Het |
Blzf1 |
A |
T |
1: 164,130,181 (GRCm39) |
V50D |
possibly damaging |
Het |
Ccdc168 |
G |
T |
1: 44,097,859 (GRCm39) |
R1080S |
probably benign |
Het |
Cfap65 |
C |
A |
1: 74,943,844 (GRCm39) |
D1556Y |
probably damaging |
Het |
Chrm2 |
A |
T |
6: 36,501,027 (GRCm39) |
N295Y |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,529,145 (GRCm39) |
E843V |
probably benign |
Het |
Enpp3 |
T |
A |
10: 24,653,855 (GRCm39) |
N701Y |
possibly damaging |
Het |
Fbxo30 |
G |
T |
10: 11,166,380 (GRCm39) |
L367F |
possibly damaging |
Het |
Gm4841 |
A |
T |
18: 60,403,652 (GRCm39) |
F147Y |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,485,445 (GRCm39) |
T500A |
possibly damaging |
Het |
Lama1 |
G |
A |
17: 68,102,228 (GRCm39) |
V1951I |
probably benign |
Het |
Mgat4b |
A |
G |
11: 50,123,898 (GRCm39) |
|
probably null |
Het |
Mpp3 |
A |
G |
11: 101,899,444 (GRCm39) |
V359A |
probably benign |
Het |
Nhsl1 |
T |
A |
10: 18,401,610 (GRCm39) |
D911E |
probably damaging |
Het |
Or13a23-ps1 |
T |
G |
7: 140,118,465 (GRCm39) |
F12V |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,962,131 (GRCm39) |
|
probably benign |
Het |
Qrfprl |
A |
T |
6: 65,433,229 (GRCm39) |
I350F |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Saxo2 |
T |
C |
7: 82,284,484 (GRCm39) |
R125G |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,866,953 (GRCm39) |
D103G |
probably damaging |
Het |
Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
Shroom1 |
G |
A |
11: 53,354,343 (GRCm39) |
A88T |
possibly damaging |
Het |
Slc24a5 |
G |
T |
2: 124,922,615 (GRCm39) |
A126S |
possibly damaging |
Het |
Sult5a1 |
A |
G |
8: 123,876,017 (GRCm39) |
F100L |
probably benign |
Het |
Syne1 |
T |
C |
10: 4,990,942 (GRCm39) |
Q579R |
possibly damaging |
Het |
Vmn1r113 |
G |
A |
7: 20,521,903 (GRCm39) |
G232S |
probably benign |
Het |
Zic5 |
C |
G |
14: 122,702,566 (GRCm39) |
R55P |
unknown |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCATGAATTACCTGCCC -3'
(R):5'- ATGTGAGGGGAAGTGCTCAC -3'
Sequencing Primer
(F):5'- GAGTTAGTTCAAAGCCAGCCTTG -3'
(R):5'- TGAGGGGAAGTGCTCACAAGAG -3'
|
Posted On |
2018-07-23 |