Incidental Mutation 'IGL02022:Abra'
| ID |
184004 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
41728689-41733116 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41732802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 88
(H88R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054742]
|
| AlphaFold |
Q8BUZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054742
AA Change: H88R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051973
Gene: ENSMUSG00000042895
AA Change: H88R
| Domain | Start | End | E-Value | Type |
|---|
|
Costars
|
298 |
374 |
6.22e-45 |
SMART |
|
| Coding Region Coverage |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,120,358 (GRCm39) |
Y160C |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,412,999 (GRCm39) |
S314P |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,987,617 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
A |
C |
11: 69,251,886 (GRCm39) |
C123G |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,547,171 (GRCm39) |
|
probably null |
Het |
| Cnot7 |
G |
T |
8: 40,952,386 (GRCm39) |
P190T |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,212,031 (GRCm39) |
|
probably benign |
Het |
| Dennd2d |
A |
G |
3: 106,407,220 (GRCm39) |
T424A |
probably benign |
Het |
| Dnhd1 |
C |
T |
7: 105,327,516 (GRCm39) |
R54C |
probably damaging |
Het |
| Efhd1 |
G |
A |
1: 87,192,334 (GRCm39) |
E55K |
probably damaging |
Het |
| Ep300 |
T |
C |
15: 81,495,638 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Klhl3 |
A |
T |
13: 58,198,878 (GRCm39) |
S201T |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,724,953 (GRCm39) |
F219S |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,172,172 (GRCm39) |
D751N |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,629 (GRCm39) |
C1848* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,284,842 (GRCm39) |
|
probably null |
Het |
| Med10 |
T |
C |
13: 69,961,819 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
T |
A |
3: 153,592,593 (GRCm39) |
T170S |
probably damaging |
Het |
| Or52n3 |
T |
C |
7: 104,530,141 (GRCm39) |
C76R |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,297,153 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
G |
A |
1: 11,367,963 (GRCm39) |
V1595I |
probably benign |
Het |
| Prpf8 |
C |
T |
11: 75,392,660 (GRCm39) |
R1617* |
probably null |
Het |
| Rabep1 |
T |
A |
11: 70,825,385 (GRCm39) |
L684Q |
probably damaging |
Het |
| Slc22a4 |
G |
A |
11: 53,874,435 (GRCm39) |
|
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,037 (GRCm39) |
F153S |
probably damaging |
Het |
| Tma16 |
A |
G |
8: 66,939,062 (GRCm39) |
|
probably null |
Het |
| Unc80 |
G |
T |
1: 66,665,675 (GRCm39) |
R1814L |
possibly damaging |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,987 (GRCm39) |
D179N |
possibly damaging |
Het |
| Washc2 |
A |
G |
6: 116,236,126 (GRCm39) |
E1199G |
probably benign |
Het |
| Zic1 |
C |
A |
9: 91,244,525 (GRCm39) |
|
probably null |
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 |
|
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 |
|
RF053:Abra
|
UTSW |
15 |
41,729,695 (GRCm39) |
small deletion |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation