Incidental Mutation 'IGL02229:Atl1'
ID |
285420 |
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 # |
IGL02229
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
69939879-70010859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69972799 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 40
(V40I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021466]
[ENSMUST00000223456]
|
AlphaFold |
Q8BH66 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021466
AA Change: V40I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000021466 Gene: ENSMUSG00000021066 AA Change: V40I
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: ENSMUST00000082064
|
SMART Domains |
Protein: ENSMUSP00000100794 Gene: ENSMUSG00000078370
Domain | Start | End | E-Value | Type |
Gp_dh_N
|
2 |
156 |
1.4e-103 |
SMART |
Pfam:Gp_dh_C
|
161 |
318 |
5e-70 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222141
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223456
AA Change: V40I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
A |
G |
5: 64,055,696 (GRCm39) |
D144G |
probably damaging |
Het |
Adgrg1 |
G |
T |
8: 95,730,139 (GRCm39) |
D114Y |
probably damaging |
Het |
Ago4 |
T |
A |
4: 126,405,325 (GRCm39) |
N416I |
probably benign |
Het |
Aoc1 |
C |
T |
6: 48,882,843 (GRCm39) |
Q240* |
probably null |
Het |
Cdh2 |
T |
C |
18: 16,757,810 (GRCm39) |
I591V |
probably benign |
Het |
Cic |
C |
A |
7: 24,990,375 (GRCm39) |
Q1959K |
probably damaging |
Het |
Cmya5 |
C |
T |
13: 93,229,194 (GRCm39) |
E1965K |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,153,781 (GRCm39) |
S397P |
probably damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,059,907 (GRCm39) |
Y593H |
probably damaging |
Het |
Dck |
A |
G |
5: 88,921,964 (GRCm39) |
Y142C |
probably damaging |
Het |
Eea1 |
A |
T |
10: 95,854,046 (GRCm39) |
E568V |
probably damaging |
Het |
Gabra3 |
A |
G |
X: 71,544,683 (GRCm39) |
|
probably null |
Het |
Gucy2f |
A |
G |
X: 140,962,984 (GRCm39) |
S342P |
probably benign |
Het |
Hbb-bh1 |
T |
A |
7: 103,492,032 (GRCm39) |
I61F |
possibly damaging |
Het |
Hook1 |
T |
C |
4: 95,889,488 (GRCm39) |
S235P |
possibly damaging |
Het |
Hoxd12 |
G |
A |
2: 74,506,278 (GRCm39) |
R230H |
probably damaging |
Het |
Iglc2 |
C |
T |
16: 19,017,483 (GRCm39) |
A41T |
probably benign |
Het |
Il1r1 |
A |
G |
1: 40,352,518 (GRCm39) |
K566E |
probably damaging |
Het |
Kcns3 |
A |
T |
12: 11,142,093 (GRCm39) |
M202K |
probably damaging |
Het |
Krt7 |
C |
A |
15: 101,325,497 (GRCm39) |
A442D |
probably benign |
Het |
Ltk |
C |
T |
2: 119,589,054 (GRCm39) |
R200H |
probably benign |
Het |
Macf1 |
G |
T |
4: 123,403,619 (GRCm39) |
D582E |
probably damaging |
Het |
Mbnl3 |
A |
T |
X: 50,228,218 (GRCm39) |
Y69N |
probably damaging |
Het |
Mpp1 |
T |
C |
X: 74,165,034 (GRCm39) |
|
probably benign |
Het |
Myo18b |
A |
G |
5: 113,025,976 (GRCm39) |
S25P |
unknown |
Het |
Nsd3 |
A |
G |
8: 26,200,775 (GRCm39) |
N1289S |
probably damaging |
Het |
Or8d1 |
T |
A |
9: 38,766,712 (GRCm39) |
M118K |
possibly damaging |
Het |
Pacs2 |
A |
G |
12: 113,020,420 (GRCm39) |
|
probably benign |
Het |
Rab3gap2 |
A |
G |
1: 184,991,580 (GRCm39) |
K689E |
possibly damaging |
Het |
Sva |
T |
A |
6: 42,019,156 (GRCm39) |
C109S |
probably damaging |
Het |
Taf3 |
T |
C |
2: 9,957,645 (GRCm39) |
N174S |
probably damaging |
Het |
Tbc1d5 |
A |
T |
17: 51,159,628 (GRCm39) |
M393K |
probably damaging |
Het |
Tmem242 |
A |
T |
17: 5,461,682 (GRCm39) |
S129T |
probably benign |
Het |
Ttn |
A |
T |
2: 76,701,513 (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 |
IGL02035:Atl1
|
APN |
12 |
70,007,318 (GRCm39) |
unclassified |
probably benign |
|
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 |
2015-04-16 |