Incidental Mutation 'R2385:Abra'
ID |
247686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abra
|
Ensembl Gene |
ENSMUSG00000042895 |
Gene Name |
actin-binding Rho activating protein |
Synonyms |
C130068O12Rik, STARS |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.311)
|
Stock # |
R2385 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
41728689-41733116 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41732749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 106
(T106A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054742]
|
AlphaFold |
Q8BUZ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054742
AA Change: T106A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000051973 Gene: ENSMUSG00000042895 AA Change: T106A
Domain | Start | End | E-Value | Type |
Costars
|
298 |
374 |
6.22e-45 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
T |
5: 50,136,908 (GRCm39) |
I595N |
possibly damaging |
Het |
Aox3 |
A |
G |
1: 58,177,448 (GRCm39) |
E221G |
probably damaging |
Het |
Arpc1a |
T |
A |
5: 145,041,333 (GRCm39) |
|
probably null |
Het |
Cd180 |
A |
G |
13: 102,841,691 (GRCm39) |
T246A |
probably benign |
Het |
Cep250 |
A |
G |
2: 155,816,261 (GRCm39) |
E672G |
probably damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,442,696 (GRCm39) |
I380F |
probably benign |
Het |
Dock3 |
A |
T |
9: 106,868,324 (GRCm39) |
D653E |
probably damaging |
Het |
Fbxw22 |
A |
G |
9: 109,211,210 (GRCm39) |
S364P |
probably damaging |
Het |
Ift122 |
T |
C |
6: 115,889,483 (GRCm39) |
Y823H |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,936,819 (GRCm39) |
S1365P |
probably damaging |
Het |
Nol11 |
C |
T |
11: 107,080,032 (GRCm39) |
G18R |
probably benign |
Het |
Or8k3 |
A |
T |
2: 86,058,817 (GRCm39) |
L166* |
probably null |
Het |
Pde8a |
T |
G |
7: 80,932,740 (GRCm39) |
M134R |
probably benign |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Polr3gl |
A |
G |
3: 96,485,862 (GRCm39) |
F135L |
probably damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,062,671 (GRCm39) |
I216F |
probably damaging |
Het |
Slc23a2 |
T |
C |
2: 131,931,121 (GRCm39) |
D126G |
probably benign |
Het |
Snx13 |
A |
T |
12: 35,169,792 (GRCm39) |
Y579F |
probably benign |
Het |
Vcan |
T |
C |
13: 89,837,568 (GRCm39) |
T1699A |
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 |
R3718:Abra
|
UTSW |
15 |
41,729,689 (GRCm39) |
missense |
probably benign |
|
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'- TTTGGTCAGCTCAGACACC -3'
(R):5'- TCAATTTGGCCCGAGGTTGG -3'
Sequencing Primer
(F):5'- TCAGCTCAGACACCAGGTTG -3'
(R):5'- AAACAGGCCCAGGAGCCTG -3'
|
Posted On |
2014-11-11 |