Incidental Mutation 'IGL01679:Abl2'
ID |
103743 |
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 # |
IGL01679
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156386356-156477138 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 156470035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 1100
(I1100V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027888]
[ENSMUST00000166172]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027888
AA Change: I1100V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000027888 Gene: ENSMUSG00000026596 AA Change: I1100V
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 benign
Transcript: ENSMUST00000166172
AA Change: I996V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000126181 Gene: ENSMUSG00000026596 AA Change: I996V
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,248,071 (GRCm39) |
M2606K |
probably benign |
Het |
Atp2a1 |
T |
C |
7: 126,055,981 (GRCm39) |
N280S |
probably benign |
Het |
Car8 |
G |
A |
4: 8,169,674 (GRCm39) |
T278I |
possibly damaging |
Het |
Catsperb |
G |
A |
12: 101,557,841 (GRCm39) |
|
probably null |
Het |
Cfap47 |
A |
G |
X: 78,376,439 (GRCm39) |
Y266H |
probably damaging |
Het |
Cilk1 |
T |
C |
9: 78,047,307 (GRCm39) |
I69T |
possibly damaging |
Het |
Cmya5 |
T |
C |
13: 93,201,828 (GRCm39) |
E3378G |
probably damaging |
Het |
Ctsq |
C |
T |
13: 61,186,722 (GRCm39) |
G94D |
probably benign |
Het |
Entpd8 |
A |
G |
2: 24,974,378 (GRCm39) |
K388E |
probably benign |
Het |
Gab1 |
C |
T |
8: 81,518,178 (GRCm39) |
A145T |
probably benign |
Het |
Gbp9 |
T |
C |
5: 105,233,038 (GRCm39) |
|
probably null |
Het |
Gm6685 |
T |
C |
11: 28,289,586 (GRCm39) |
T77A |
possibly damaging |
Het |
Miga2 |
A |
G |
2: 30,268,262 (GRCm39) |
K387R |
probably benign |
Het |
Myo1g |
A |
G |
11: 6,468,006 (GRCm39) |
V143A |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,114,752 (GRCm39) |
|
probably benign |
Het |
Plekhg6 |
T |
C |
6: 125,351,942 (GRCm39) |
T201A |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,049,901 (GRCm39) |
S650P |
probably damaging |
Het |
Rplp2 |
T |
G |
7: 141,028,679 (GRCm39) |
I55S |
probably damaging |
Het |
Sdk1 |
A |
G |
5: 142,031,919 (GRCm39) |
D998G |
probably benign |
Het |
Slc13a2 |
C |
A |
11: 78,295,537 (GRCm39) |
A110S |
probably damaging |
Het |
Slc38a2 |
A |
T |
15: 96,595,835 (GRCm39) |
Y94* |
probably null |
Het |
Smarcc1 |
A |
G |
9: 110,042,598 (GRCm39) |
R889G |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,339,936 (GRCm39) |
T364A |
probably benign |
Het |
Zfp655 |
A |
G |
5: 145,180,637 (GRCm39) |
E165G |
probably damaging |
Het |
|
Other mutations in Abl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01400:Abl2
|
APN |
1 |
156,462,754 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-01-21 |