Incidental Mutation 'R1489:Atl2'
ID |
163627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atl2
|
Ensembl Gene |
ENSMUSG00000059811 |
Gene Name |
atlastin GTPase 2 |
Synonyms |
Arl6ip2, 2010110I21Rik, Aip-2 |
MMRRC Submission |
039541-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1489 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
80155819-80203552 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80160135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 17
(A17V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068282]
[ENSMUST00000112437]
[ENSMUST00000222193]
[ENSMUST00000222415]
|
AlphaFold |
Q6PA06 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068282
AA Change: A484V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000064758 Gene: ENSMUSG00000059811 AA Change: A484V
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
Pfam:GBP
|
70 |
341 |
3.9e-105 |
PFAM |
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
Blast:HAMP
|
495 |
545 |
4e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112437
AA Change: A313V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108056 Gene: ENSMUSG00000059811 AA Change: A313V
Domain | Start | End | E-Value | Type |
Pfam:GBP
|
1 |
170 |
6.6e-69 |
PFAM |
Pfam:GBP_C
|
172 |
302 |
2.7e-8 |
PFAM |
Blast:HAMP
|
324 |
374 |
3e-8 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221666
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222193
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222415
AA Change: A17V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223273
|
Meta Mutation Damage Score |
0.0703 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
A |
G |
12: 55,106,295 (GRCm39) |
S143P |
possibly damaging |
Het |
4930522H14Rik |
T |
C |
4: 109,362,654 (GRCm39) |
K218E |
possibly damaging |
Het |
Abcb1a |
T |
A |
5: 8,736,300 (GRCm39) |
|
probably null |
Het |
Adam39 |
A |
G |
8: 41,278,031 (GRCm39) |
T141A |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,455,071 (GRCm39) |
S629R |
probably benign |
Het |
Ap3b2 |
C |
A |
7: 81,113,438 (GRCm39) |
E924* |
probably null |
Het |
Armc3 |
A |
T |
2: 19,314,858 (GRCm39) |
Y856F |
probably benign |
Het |
Asap1 |
A |
G |
15: 64,044,579 (GRCm39) |
L142P |
probably damaging |
Het |
Atg9a |
T |
A |
1: 75,162,734 (GRCm39) |
D427V |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,095,639 (GRCm39) |
S379T |
probably damaging |
Het |
C1ql3 |
G |
T |
2: 13,015,453 (GRCm39) |
P69Q |
possibly damaging |
Het |
Cap2 |
A |
T |
13: 46,763,111 (GRCm39) |
I114F |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,096,950 (GRCm39) |
F1383L |
probably benign |
Het |
Ccdc168 |
T |
C |
1: 44,100,667 (GRCm39) |
I144V |
probably benign |
Het |
Cox16 |
T |
C |
12: 81,521,389 (GRCm39) |
N135S |
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,108,234 (GRCm39) |
H180Q |
possibly damaging |
Het |
Dpy19l3 |
A |
T |
7: 35,424,835 (GRCm39) |
Y73* |
probably null |
Het |
Duox2 |
T |
A |
2: 122,123,877 (GRCm39) |
M436L |
probably benign |
Het |
Exoc6 |
T |
A |
19: 37,585,568 (GRCm39) |
M481K |
possibly damaging |
Het |
Fbxw2 |
GCCCCC |
GCCCCCCCC |
2: 34,702,829 (GRCm39) |
|
probably benign |
Het |
Fmn1 |
T |
A |
2: 113,195,557 (GRCm39) |
V419E |
unknown |
Het |
Fndc4 |
T |
C |
5: 31,450,795 (GRCm39) |
*232W |
probably null |
Het |
Foxc1 |
C |
T |
13: 31,992,595 (GRCm39) |
R469* |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,810,155 (GRCm39) |
H2158R |
probably benign |
Het |
Ghdc |
C |
T |
11: 100,659,083 (GRCm39) |
G373D |
probably benign |
Het |
Gm10330 |
A |
T |
12: 23,830,032 (GRCm39) |
S50T |
probably benign |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Lonrf1 |
A |
G |
8: 36,690,108 (GRCm39) |
V650A |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,130,918 (GRCm39) |
V578A |
possibly damaging |
Het |
Mbd3 |
C |
G |
10: 80,229,740 (GRCm39) |
D190H |
probably damaging |
Het |
Mcpt9 |
T |
C |
14: 56,264,976 (GRCm39) |
K175R |
probably benign |
Het |
Mia3 |
A |
G |
1: 183,120,121 (GRCm39) |
S85P |
probably benign |
Het |
Myrip |
T |
C |
9: 120,261,595 (GRCm39) |
F403L |
probably damaging |
Het |
Nox4 |
A |
G |
7: 86,954,097 (GRCm39) |
Y134C |
probably damaging |
Het |
Numb |
A |
G |
12: 83,842,217 (GRCm39) |
L642P |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,099,185 (GRCm39) |
Y568F |
possibly damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,575,593 (GRCm39) |
L333P |
probably benign |
Het |
Prl |
A |
T |
13: 27,241,619 (GRCm39) |
S3C |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,047,824 (GRCm39) |
T60A |
possibly damaging |
Het |
Rbm10 |
C |
T |
X: 20,503,903 (GRCm39) |
|
probably benign |
Het |
Slc7a7 |
C |
T |
14: 54,646,103 (GRCm39) |
R120H |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,205,761 (GRCm39) |
|
probably null |
Het |
Spta1 |
A |
G |
1: 174,058,891 (GRCm39) |
E1942G |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,333,479 (GRCm39) |
Y66C |
probably damaging |
Het |
Tnnt1 |
A |
T |
7: 4,510,524 (GRCm39) |
Y232* |
probably null |
Het |
Tpte |
T |
C |
8: 22,839,405 (GRCm39) |
|
probably null |
Het |
Virma |
T |
C |
4: 11,521,164 (GRCm39) |
V907A |
probably damaging |
Het |
Vmn1r174 |
C |
T |
7: 23,453,981 (GRCm39) |
Q216* |
probably null |
Het |
Zswim3 |
T |
C |
2: 164,661,901 (GRCm39) |
V127A |
probably benign |
Het |
|
Other mutations in Atl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02135:Atl2
|
APN |
17 |
80,167,214 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02692:Atl2
|
APN |
17 |
80,172,482 (GRCm39) |
missense |
probably benign |
|
IGL03127:Atl2
|
APN |
17 |
80,160,283 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03377:Atl2
|
APN |
17 |
80,172,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R0164:Atl2
|
UTSW |
17 |
80,161,260 (GRCm39) |
unclassified |
probably benign |
|
R1203:Atl2
|
UTSW |
17 |
80,160,334 (GRCm39) |
missense |
probably damaging |
0.99 |
R1663:Atl2
|
UTSW |
17 |
80,172,140 (GRCm39) |
missense |
probably damaging |
1.00 |
R1977:Atl2
|
UTSW |
17 |
80,160,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R2032:Atl2
|
UTSW |
17 |
80,203,373 (GRCm39) |
missense |
probably benign |
|
R4063:Atl2
|
UTSW |
17 |
80,157,588 (GRCm39) |
makesense |
probably null |
|
R5104:Atl2
|
UTSW |
17 |
80,160,046 (GRCm39) |
missense |
probably benign |
0.01 |
R5201:Atl2
|
UTSW |
17 |
80,172,580 (GRCm39) |
missense |
probably benign |
|
R5362:Atl2
|
UTSW |
17 |
80,168,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R5387:Atl2
|
UTSW |
17 |
80,160,229 (GRCm39) |
missense |
probably benign |
0.03 |
R6128:Atl2
|
UTSW |
17 |
80,172,470 (GRCm39) |
critical splice donor site |
probably null |
|
R6369:Atl2
|
UTSW |
17 |
80,161,984 (GRCm39) |
missense |
probably damaging |
0.96 |
R6416:Atl2
|
UTSW |
17 |
80,157,652 (GRCm39) |
missense |
probably benign |
0.00 |
R6597:Atl2
|
UTSW |
17 |
80,160,195 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6885:Atl2
|
UTSW |
17 |
80,159,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R7428:Atl2
|
UTSW |
17 |
80,183,227 (GRCm39) |
splice site |
probably null |
|
R7587:Atl2
|
UTSW |
17 |
80,172,496 (GRCm39) |
missense |
probably benign |
0.25 |
R7646:Atl2
|
UTSW |
17 |
80,162,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R7781:Atl2
|
UTSW |
17 |
80,167,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R7949:Atl2
|
UTSW |
17 |
80,167,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Atl2
|
UTSW |
17 |
80,163,690 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8313:Atl2
|
UTSW |
17 |
80,160,033 (GRCm39) |
nonsense |
probably null |
|
R8878:Atl2
|
UTSW |
17 |
80,160,232 (GRCm39) |
missense |
probably benign |
0.05 |
R8899:Atl2
|
UTSW |
17 |
80,183,469 (GRCm39) |
missense |
probably benign |
0.01 |
R9335:Atl2
|
UTSW |
17 |
80,160,207 (GRCm39) |
missense |
probably benign |
0.00 |
X0052:Atl2
|
UTSW |
17 |
80,160,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTCACCGTCTGGCATAATCACC -3'
(R):5'- GTGGCGCTCAAACAGTTTCGTTC -3'
Sequencing Primer
(F):5'- CCAGGCTTTTAAGTAAGAACTAACC -3'
(R):5'- CGTTCTGTGAAAAAAATGGGTGG -3'
|
Posted On |
2014-03-28 |