Incidental Mutation 'R2893:Abl1'
| ID |
260650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abl1
|
| Ensembl Gene |
ENSMUSG00000026842 |
| Gene Name |
c-abl oncogene 1, non-receptor tyrosine kinase |
| Synonyms |
c-Abl, E430008G22Rik |
| MMRRC Submission |
040481-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.935)
|
| Stock # |
R2893 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
31578388-31694239 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 31687624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 521
(S521R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028190
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028190]
[ENSMUST00000075759]
[ENSMUST00000142554]
|
| AlphaFold |
P00520 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE COMPLEX OF THE ABL TYROSINE KINASE SH3 DOMAIN WITH 3BP-1 SYNTHETIC PEPTIDE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE UNLIGANDED ABL TYROSINE KINASE SH3 DOMAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF ABL KINASE DOMAIN IN COMPLEX WITH A SMALL MOLECULE INHIBITOR [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE C-ABL KINASE DOMAIN IN COMPLEX WITH STI-571. [X-RAY DIFFRACTION]
Crystal Structure of the c-Abl Kinase domain in complex with PD173955 [X-RAY DIFFRACTION]
Structural basis for the auto-inhibition of c-Abl tyrosine kinase [X-RAY DIFFRACTION]
Structural basis for the auto-inhibition of c-Abl tyrosine kinase [X-RAY DIFFRACTION]
Abl kinase domain in complex with NVP-AFG210 [X-RAY DIFFRACTION]
Crystal Structure of Abl kinase bound with PPY-A [X-RAY DIFFRACTION]
Crystal Structure of the T315I Mutant of Abl kinase bound with PPY-A [X-RAY DIFFRACTION]
>> 11 additional structures at PDB <<
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028190
AA Change: S521R
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028190
Gene: ENSMUSG00000026842
AA Change: S521R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
23 |
N/A |
INTRINSIC |
|
SH3
|
64 |
120 |
6.95e-16 |
SMART |
|
SH2
|
125 |
208 |
6.52e-32 |
SMART |
|
TyrKc
|
242 |
493 |
4.48e-149 |
SMART |
|
low complexity region
|
698 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
810 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
949 |
960 |
N/A |
INTRINSIC |
|
low complexity region
|
964 |
983 |
N/A |
INTRINSIC |
|
FABD
|
997 |
1123 |
1.36e-63 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075759
AA Change: S540R
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000075167
Gene: ENSMUSG00000026842
AA Change: S540R
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
83 |
139 |
6.95e-16 |
SMART |
|
SH2
|
144 |
227 |
6.52e-32 |
SMART |
|
TyrKc
|
261 |
512 |
4.48e-149 |
SMART |
|
low complexity region
|
717 |
722 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
829 |
N/A |
INTRINSIC |
|
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
979 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1002 |
N/A |
INTRINSIC |
|
FABD
|
1016 |
1142 |
1.36e-63 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124726
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127714
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142554
|
| SMART Domains |
Protein: ENSMUSP00000142123
Gene: ENSMUSG00000026842
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1OPL|B
|
1 |
47 |
2e-27 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene have increased perinatal and postnatal mortality and may display foreshortened crania, abnormal development of spleen, head, heart and eye, reduced B and T cell populations, and osteoporosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
| Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Faap100 |
T |
C |
11: 120,265,451 (GRCm39) |
D475G |
probably damaging |
Het |
| Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
| Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
| Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
| Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,107,008 (GRCm39) |
G662D |
possibly damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,493 (GRCm39) |
Q269R |
probably damaging |
Het |
| Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
| Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
| Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
| Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
Het |
| Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
| Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
| Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
| Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
| Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
possibly damaging |
Het |
|
| Other mutations in Abl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Abl1
|
APN |
2 |
31,680,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Abl1
|
APN |
2 |
31,668,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02079:Abl1
|
APN |
2 |
31,579,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL02179:Abl1
|
APN |
2 |
31,682,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Abl1
|
APN |
2 |
31,691,144 (GRCm39) |
missense |
probably benign |
|
|
IGL02824:Abl1
|
APN |
2 |
31,690,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hourglass
|
UTSW |
2 |
31,684,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sands
|
UTSW |
2 |
31,669,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0733:Abl1
|
UTSW |
2 |
31,668,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1222:Abl1
|
UTSW |
2 |
31,691,006 (GRCm39) |
missense |
probably benign |
|
|
R1428:Abl1
|
UTSW |
2 |
31,691,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1582:Abl1
|
UTSW |
2 |
31,690,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1596:Abl1
|
UTSW |
2 |
31,680,350 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1824:Abl1
|
UTSW |
2 |
31,690,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2240:Abl1
|
UTSW |
2 |
31,690,517 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2251:Abl1
|
UTSW |
2 |
31,669,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2405:Abl1
|
UTSW |
2 |
31,690,986 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3952:Abl1
|
UTSW |
2 |
31,674,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4119:Abl1
|
UTSW |
2 |
31,691,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Abl1
|
UTSW |
2 |
31,691,708 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4809:Abl1
|
UTSW |
2 |
31,690,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Abl1
|
UTSW |
2 |
31,669,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Abl1
|
UTSW |
2 |
31,687,059 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5518:Abl1
|
UTSW |
2 |
31,680,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Abl1
|
UTSW |
2 |
31,691,682 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5568:Abl1
|
UTSW |
2 |
31,669,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5627:Abl1
|
UTSW |
2 |
31,690,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6435:Abl1
|
UTSW |
2 |
31,691,561 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6492:Abl1
|
UTSW |
2 |
31,691,667 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6738:Abl1
|
UTSW |
2 |
31,684,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Abl1
|
UTSW |
2 |
31,690,604 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7398:Abl1
|
UTSW |
2 |
31,680,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7639:Abl1
|
UTSW |
2 |
31,669,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7674:Abl1
|
UTSW |
2 |
31,579,841 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7781:Abl1
|
UTSW |
2 |
31,680,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7802:Abl1
|
UTSW |
2 |
31,650,438 (GRCm39) |
missense |
probably benign |
|
|
R7941:Abl1
|
UTSW |
2 |
31,579,691 (GRCm39) |
start gained |
probably benign |
|
|
R9743:Abl1
|
UTSW |
2 |
31,687,716 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1176:Abl1
|
UTSW |
2 |
31,579,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTTCCCTCACCCAAATG -3'
(R):5'- ACTGACAGCTTCTGTTCACCTG -3'
Sequencing Primer
(F):5'- GAGGATCCAGTACCACCTTCTG -3'
(R):5'- GTTCACCTGCCTGGCTTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation