Incidental Mutation 'R3718:Abra'
ID |
258799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abra
|
Ensembl Gene |
ENSMUSG00000042895 |
Gene Name |
actin-binding Rho activating protein |
Synonyms |
C130068O12Rik, STARS |
MMRRC Submission |
040710-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R3718 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
41728689-41733116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41729689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054742]
|
AlphaFold |
Q8BUZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054742
AA Change: D237G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000051973 Gene: ENSMUSG00000042895 AA Change: D237G
Domain | Start | End | E-Value | Type |
Costars
|
298 |
374 |
6.22e-45 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired arteriogenesis following occlusion. [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 |
Alas2 |
T |
C |
X: 149,343,726 (GRCm39) |
|
probably benign |
Het |
Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,408,627 (GRCm39) |
Y2505H |
probably benign |
Het |
Aspm |
G |
A |
1: 139,418,165 (GRCm39) |
V2965I |
probably benign |
Het |
Ccna2 |
A |
T |
3: 36,620,387 (GRCm39) |
V285E |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dnajc10 |
A |
G |
2: 80,155,089 (GRCm39) |
|
probably benign |
Het |
Dpp3 |
A |
G |
19: 4,973,093 (GRCm39) |
|
probably null |
Het |
Gng11 |
G |
A |
6: 4,008,078 (GRCm39) |
R47H |
probably benign |
Het |
Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,534,948 (GRCm39) |
E381G |
probably benign |
Het |
Il9 |
G |
A |
13: 56,627,264 (GRCm39) |
T116I |
probably damaging |
Het |
Kcnh1 |
A |
G |
1: 191,921,107 (GRCm39) |
T129A |
probably damaging |
Het |
Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,184,499 (GRCm39) |
F401L |
probably benign |
Het |
Nup210 |
A |
T |
6: 90,997,162 (GRCm39) |
D1626E |
probably benign |
Het |
Or10q12 |
A |
G |
19: 13,746,428 (GRCm39) |
R241G |
probably damaging |
Het |
Or4k35 |
A |
G |
2: 111,100,571 (GRCm39) |
V47A |
probably benign |
Het |
Or8g26 |
A |
G |
9: 39,096,361 (GRCm39) |
R293G |
probably damaging |
Het |
Pign |
A |
G |
1: 105,577,006 (GRCm39) |
|
probably null |
Het |
Rad54l2 |
A |
G |
9: 106,570,726 (GRCm39) |
V1198A |
probably benign |
Het |
Sh3tc2 |
T |
C |
18: 62,123,414 (GRCm39) |
V725A |
probably benign |
Het |
Skint10 |
A |
T |
4: 112,603,936 (GRCm39) |
W84R |
probably damaging |
Het |
Slc40a1 |
G |
T |
1: 45,950,151 (GRCm39) |
H434N |
probably benign |
Het |
Trdv2-1 |
T |
C |
14: 54,183,995 (GRCm39) |
Y76H |
probably benign |
Het |
Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
probably damaging |
Het |
Zc3hav1l |
G |
T |
6: 38,272,060 (GRCm39) |
S236R |
probably damaging |
Het |
|
Other mutations in Abra |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01512:Abra
|
APN |
15 |
41,729,413 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02022:Abra
|
APN |
15 |
41,732,802 (GRCm39) |
missense |
probably benign |
|
IGL02370:Abra
|
APN |
15 |
41,732,640 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02406:Abra
|
APN |
15 |
41,732,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R1860:Abra
|
UTSW |
15 |
41,732,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Abra
|
UTSW |
15 |
41,732,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R2385:Abra
|
UTSW |
15 |
41,732,749 (GRCm39) |
missense |
probably damaging |
0.97 |
R4582:Abra
|
UTSW |
15 |
41,732,681 (GRCm39) |
missense |
probably benign |
0.16 |
R4621:Abra
|
UTSW |
15 |
41,732,620 (GRCm39) |
missense |
probably benign |
0.10 |
R4724:Abra
|
UTSW |
15 |
41,729,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R5926:Abra
|
UTSW |
15 |
41,729,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R6417:Abra
|
UTSW |
15 |
41,729,452 (GRCm39) |
missense |
probably benign |
0.01 |
R6649:Abra
|
UTSW |
15 |
41,732,629 (GRCm39) |
missense |
probably benign |
|
R7348:Abra
|
UTSW |
15 |
41,729,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R7487:Abra
|
UTSW |
15 |
41,732,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R7997:Abra
|
UTSW |
15 |
41,729,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Abra
|
UTSW |
15 |
41,729,656 (GRCm39) |
missense |
probably damaging |
0.99 |
R9171:Abra
|
UTSW |
15 |
41,732,512 (GRCm39) |
missense |
possibly damaging |
0.92 |
RF053:Abra
|
UTSW |
15 |
41,729,695 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATAGATGTGCTCTTCCGCTC -3'
(R):5'- GCTTGAGTTTAATATCACTAGTGGC -3'
Sequencing Primer
(F):5'- GCTCGCTTGGCCCTTTCAG -3'
(R):5'- CAGAGACTACACATGGGA -3'
|
Posted On |
2015-01-23 |