Incidental Mutation 'RF053:Abra'
| ID |
605188 |
| 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 # |
RF053 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
41728689-41733116 bp(-) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
TGGC to T
at 41729695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054742]
|
| AlphaFold |
Q8BUZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054742
|
| SMART Domains |
Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
| Domain | Start | End | E-Value | Type |
|---|
|
Costars
|
298 |
374 |
6.22e-45 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGGCTGCTG |
TGGCTGCTGGGGCTGCTG |
1: 82,891,294 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCCTCCTCCTC |
CTCCTCCTCCTCATCCTCCTCCTC |
7: 80,162,669 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
TGAGGAG |
T |
9: 75,683,656 (GRCm39) |
|
probably benign |
Het |
| Cngb1 |
GGCTCTGGCTCTGGCTCTGGCTCTG |
GG |
8: 96,030,276 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GGATGTGACAGACACACTGCCCAG |
GGATGTGACAGACACACTGCCCAGCGATGTGACAGACACACTGCCCAG |
9: 86,922,475 (GRCm39) |
|
probably benign |
Het |
| Ehbp1l1 |
TCACACCACC |
T |
19: 5,766,030 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
TTTTT |
TTTTTT |
6: 71,609,033 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACCACAGC |
CAGCCACCACAGCCAAAGCCACCACAGC |
1: 83,019,999 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CA |
CAGAA |
X: 70,162,458 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,771 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,414 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTCACCT |
GACTTGGCCTCACCTCACCACTTGGCCTCACCT |
11: 4,891,014 (GRCm39) |
|
probably null |
Het |
| Polr1has |
CACCAC |
CACCACCACCACCACCACCTCTACCAC |
17: 37,275,958 (GRCm39) |
|
probably benign |
Het |
| Rap1gds1 |
TCATTTATTATGACCATAC |
TC |
3: 138,647,418 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
C |
CAGA |
18: 60,968,819 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCCGC |
17: 48,097,039 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCT |
TGCTGCTGCTGCTGCGGCT |
15: 72,673,177 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
CTCATGTGACCTGTTCTTCACTTAA |
9: 44,000,426 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
CCCACCACCACAACCACCACCACCACCACCAC |
CCCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 24,899,735 (GRCm39) |
|
probably benign |
Het |
| Zfp69 |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGATGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
GTGCCAGGGGTCTCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTCGCTTCATCATGGGATCCTGTTGCAGTGGTGCCAGGGGTCGCTCCATCATGGGATCCTGCTGCAGGGGTGCCAGGGGTC |
4: 120,804,544 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATAGATGTGCTCTTCCGC -3'
(R):5'- GCTTGAGTTTAATATCACTAGTGGC -3'
Sequencing Primer
(F):5'- GCTCGCTTGGCCCTTTCAG -3'
(R):5'- ACAGAGACTACACATGGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation