Incidental Mutation 'IGL01400:Abl2'
ID |
79613 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abl2
|
Ensembl Gene |
ENSMUSG00000026596 |
Gene Name |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
Synonyms |
Abll, Arg |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
IGL01400
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156386356-156477138 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 156462754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 510
(C510G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027888]
[ENSMUST00000166172]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027888
AA Change: C510G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027888 Gene: ENSMUSG00000026596 AA Change: C510G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
40 |
N/A |
INTRINSIC |
SH3
|
110 |
166 |
9.83e-16 |
SMART |
SH2
|
171 |
254 |
1.34e-33 |
SMART |
TyrKc
|
288 |
539 |
2.53e-148 |
SMART |
low complexity region
|
561 |
577 |
N/A |
INTRINSIC |
low complexity region
|
598 |
609 |
N/A |
INTRINSIC |
low complexity region
|
734 |
752 |
N/A |
INTRINSIC |
low complexity region
|
877 |
891 |
N/A |
INTRINSIC |
low complexity region
|
974 |
991 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1049 |
N/A |
INTRINSIC |
FABD
|
1061 |
1182 |
5.24e-65 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166172
AA Change: C510G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126181 Gene: ENSMUSG00000026596 AA Change: C510G
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
40 |
N/A |
INTRINSIC |
SH3
|
110 |
166 |
9.83e-16 |
SMART |
SH2
|
171 |
254 |
1.34e-33 |
SMART |
TyrKc
|
288 |
539 |
2.53e-148 |
SMART |
low complexity region
|
561 |
577 |
N/A |
INTRINSIC |
low complexity region
|
598 |
609 |
N/A |
INTRINSIC |
low complexity region
|
773 |
787 |
N/A |
INTRINSIC |
low complexity region
|
870 |
887 |
N/A |
INTRINSIC |
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
FABD
|
957 |
1078 |
5.24e-65 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009] PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display multiple behavioral abnormalities indicating neuronal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
T |
5: 99,390,960 (GRCm39) |
I133N |
probably damaging |
Het |
Ambp |
T |
C |
4: 63,070,959 (GRCm39) |
Y40C |
probably damaging |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,528,454 (GRCm39) |
A311V |
probably damaging |
Het |
Cass4 |
A |
G |
2: 172,269,220 (GRCm39) |
D434G |
probably damaging |
Het |
Cep250 |
A |
C |
2: 155,840,211 (GRCm39) |
T2390P |
possibly damaging |
Het |
Cpm |
C |
A |
10: 117,495,680 (GRCm39) |
N56K |
probably benign |
Het |
Cspp1 |
T |
C |
1: 10,156,156 (GRCm39) |
L455P |
probably damaging |
Het |
Dcx |
T |
C |
X: 142,714,150 (GRCm39) |
K51E |
possibly damaging |
Het |
Ehd3 |
T |
C |
17: 74,135,089 (GRCm39) |
F322L |
probably benign |
Het |
Ell |
A |
G |
8: 71,031,563 (GRCm39) |
D87G |
probably damaging |
Het |
Epor |
C |
T |
9: 21,870,735 (GRCm39) |
|
probably null |
Het |
Exosc10 |
T |
G |
4: 148,649,728 (GRCm39) |
M386R |
probably damaging |
Het |
Gpr152 |
T |
C |
19: 4,193,626 (GRCm39) |
I389T |
probably benign |
Het |
Gvin3 |
T |
A |
7: 106,201,242 (GRCm39) |
E667D |
probably benign |
Het |
Kmo |
T |
A |
1: 175,482,661 (GRCm39) |
D328E |
possibly damaging |
Het |
Llgl1 |
A |
G |
11: 60,597,316 (GRCm39) |
H255R |
probably damaging |
Het |
Lrch3 |
T |
A |
16: 32,799,911 (GRCm39) |
H416Q |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Mdm1 |
T |
G |
10: 117,993,156 (GRCm39) |
H320Q |
probably damaging |
Het |
Nol4 |
T |
A |
18: 22,956,555 (GRCm39) |
H209L |
probably damaging |
Het |
Or5p58 |
A |
T |
7: 107,694,046 (GRCm39) |
C244S |
probably damaging |
Het |
Pcdhac2 |
T |
C |
18: 37,279,339 (GRCm39) |
V773A |
possibly damaging |
Het |
Pde3a |
A |
G |
6: 141,404,954 (GRCm39) |
N393S |
probably benign |
Het |
Pik3r5 |
A |
G |
11: 68,385,373 (GRCm39) |
K700R |
probably benign |
Het |
Prob1 |
G |
A |
18: 35,786,386 (GRCm39) |
R623C |
possibly damaging |
Het |
Slc14a2 |
T |
C |
18: 78,235,428 (GRCm39) |
N112D |
probably damaging |
Het |
Snapc3 |
C |
T |
4: 83,368,414 (GRCm39) |
P304S |
probably damaging |
Het |
Spin2c |
T |
A |
X: 152,616,621 (GRCm39) |
W145R |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,829,429 (GRCm39) |
E1075G |
probably damaging |
Het |
Trip12 |
C |
T |
1: 84,729,699 (GRCm39) |
R995Q |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,803,158 (GRCm39) |
L867* |
probably null |
Het |
Vmn1r87 |
T |
G |
7: 12,866,230 (GRCm39) |
H19P |
probably damaging |
Het |
Vps16 |
A |
G |
2: 130,280,273 (GRCm39) |
E139G |
possibly damaging |
Het |
|
Other mutations in Abl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01679:Abl2
|
APN |
1 |
156,470,035 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02289:Abl2
|
APN |
1 |
156,457,424 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4495001:Abl2
|
UTSW |
1 |
156,460,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R0907:Abl2
|
UTSW |
1 |
156,457,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R1232:Abl2
|
UTSW |
1 |
156,469,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Abl2
|
UTSW |
1 |
156,448,397 (GRCm39) |
splice site |
probably null |
|
R4224:Abl2
|
UTSW |
1 |
156,461,417 (GRCm39) |
missense |
probably damaging |
0.98 |
R4305:Abl2
|
UTSW |
1 |
156,469,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R4411:Abl2
|
UTSW |
1 |
156,457,652 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4490:Abl2
|
UTSW |
1 |
156,461,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R5132:Abl2
|
UTSW |
1 |
156,469,402 (GRCm39) |
nonsense |
probably null |
|
R5383:Abl2
|
UTSW |
1 |
156,469,802 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5428:Abl2
|
UTSW |
1 |
156,469,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Abl2
|
UTSW |
1 |
156,457,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Abl2
|
UTSW |
1 |
156,469,427 (GRCm39) |
missense |
probably benign |
0.06 |
R6051:Abl2
|
UTSW |
1 |
156,469,655 (GRCm39) |
missense |
probably damaging |
1.00 |
R6955:Abl2
|
UTSW |
1 |
156,450,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Abl2
|
UTSW |
1 |
156,386,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R7038:Abl2
|
UTSW |
1 |
156,468,979 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7172:Abl2
|
UTSW |
1 |
156,450,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Abl2
|
UTSW |
1 |
156,461,509 (GRCm39) |
critical splice donor site |
probably null |
|
R7282:Abl2
|
UTSW |
1 |
156,457,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:Abl2
|
UTSW |
1 |
156,468,820 (GRCm39) |
missense |
probably benign |
0.00 |
R7372:Abl2
|
UTSW |
1 |
156,450,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Abl2
|
UTSW |
1 |
156,450,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R7443:Abl2
|
UTSW |
1 |
156,452,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R7468:Abl2
|
UTSW |
1 |
156,450,104 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7614:Abl2
|
UTSW |
1 |
156,464,429 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7644:Abl2
|
UTSW |
1 |
156,443,563 (GRCm39) |
missense |
probably benign |
0.08 |
R7783:Abl2
|
UTSW |
1 |
156,386,641 (GRCm39) |
missense |
probably benign |
|
R8158:Abl2
|
UTSW |
1 |
156,469,639 (GRCm39) |
missense |
probably benign |
0.00 |
R8675:Abl2
|
UTSW |
1 |
156,452,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R8930:Abl2
|
UTSW |
1 |
156,461,402 (GRCm39) |
missense |
probably damaging |
0.98 |
R8932:Abl2
|
UTSW |
1 |
156,461,402 (GRCm39) |
missense |
probably damaging |
0.98 |
R9217:Abl2
|
UTSW |
1 |
156,452,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Abl2
|
UTSW |
1 |
156,469,820 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9290:Abl2
|
UTSW |
1 |
156,457,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Abl2
|
UTSW |
1 |
156,469,084 (GRCm39) |
missense |
probably damaging |
0.99 |
X0067:Abl2
|
UTSW |
1 |
156,459,003 (GRCm39) |
splice site |
probably null |
|
Z1177:Abl2
|
UTSW |
1 |
156,469,123 (GRCm39) |
frame shift |
probably null |
|
Z1177:Abl2
|
UTSW |
1 |
156,468,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-05 |