Incidental Mutation 'IGL02028:Abi2'
ID |
184241 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abi2
|
Ensembl Gene |
ENSMUSG00000026782 |
Gene Name |
abl interactor 2 |
Synonyms |
8430425M24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02028
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60473442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 53
(Y53C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000188618]
[ENSMUST00000189980]
[ENSMUST00000189082]
[ENSMUST00000190158]
|
AlphaFold |
P62484 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052332
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058754 Gene: ENSMUSG00000026782 AA Change: Y53C
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
93 |
168 |
1.1e-37 |
PFAM |
low complexity region
|
236 |
262 |
N/A |
INTRINSIC |
low complexity region
|
335 |
370 |
N/A |
INTRINSIC |
SH3
|
387 |
442 |
5.55e-24 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185788
|
SMART Domains |
Protein: ENSMUSP00000139483 Gene: ENSMUSG00000026782
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
1 |
67 |
4.4e-25 |
PFAM |
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
low complexity region
|
83 |
115 |
N/A |
INTRINSIC |
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
low complexity region
|
249 |
284 |
N/A |
INTRINSIC |
SH3
|
301 |
356 |
3.4e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186097
|
SMART Domains |
Protein: ENSMUSP00000139501 Gene: ENSMUSG00000026782
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
low complexity region
|
95 |
121 |
N/A |
INTRINSIC |
low complexity region
|
125 |
143 |
N/A |
INTRINSIC |
low complexity region
|
284 |
319 |
N/A |
INTRINSIC |
SH3
|
336 |
391 |
3.4e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187400
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187709
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139867 Gene: ENSMUSG00000026782 AA Change: Y53C
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
93 |
165 |
1.8e-33 |
PFAM |
low complexity region
|
166 |
179 |
N/A |
INTRINSIC |
low complexity region
|
236 |
262 |
N/A |
INTRINSIC |
low complexity region
|
364 |
399 |
N/A |
INTRINSIC |
SH3
|
416 |
471 |
3.4e-26 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188594
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140750 Gene: ENSMUSG00000026782 AA Change: Y53C
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
93 |
165 |
1.7e-33 |
PFAM |
low complexity region
|
166 |
179 |
N/A |
INTRINSIC |
low complexity region
|
181 |
213 |
N/A |
INTRINSIC |
low complexity region
|
217 |
235 |
N/A |
INTRINSIC |
low complexity region
|
347 |
382 |
N/A |
INTRINSIC |
SH3
|
399 |
454 |
3.4e-26 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000188618
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140274 Gene: ENSMUSG00000026782 AA Change: Y53C
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
93 |
171 |
5.1e-37 |
PFAM |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
low complexity region
|
242 |
268 |
N/A |
INTRINSIC |
low complexity region
|
272 |
290 |
N/A |
INTRINSIC |
low complexity region
|
402 |
437 |
N/A |
INTRINSIC |
SH3
|
454 |
487 |
2.29e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189980
AA Change: Y53C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141068 Gene: ENSMUSG00000026782 AA Change: Y53C
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
93 |
171 |
5e-37 |
PFAM |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
low complexity region
|
242 |
268 |
N/A |
INTRINSIC |
low complexity region
|
369 |
404 |
N/A |
INTRINSIC |
SH3
|
421 |
476 |
5.55e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191493
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189649
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189082
|
SMART Domains |
Protein: ENSMUSP00000140522 Gene: ENSMUSG00000026782
Domain | Start | End | E-Value | Type |
Pfam:Abi_HHR
|
38 |
115 |
5.8e-34 |
PFAM |
low complexity region
|
116 |
129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190158
|
SMART Domains |
Protein: ENSMUSP00000139743 Gene: ENSMUSG00000026782
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
low complexity region
|
33 |
65 |
N/A |
INTRINSIC |
low complexity region
|
69 |
87 |
N/A |
INTRINSIC |
PDB:4N78|F
|
88 |
196 |
5e-62 |
PDB |
low complexity region
|
226 |
261 |
N/A |
INTRINSIC |
SH3
|
278 |
333 |
3.4e-26 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning. [provided by MGI curators]
|
Allele List at MGI |
All alleles(30) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,304,076 (GRCm39) |
D166E |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,557,495 (GRCm39) |
|
probably null |
Het |
Arl6ip5 |
A |
G |
6: 97,206,611 (GRCm39) |
Y97C |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,024,936 (GRCm39) |
S1772R |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,062,645 (GRCm39) |
Q155R |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 57,983,861 (GRCm39) |
N446S |
probably benign |
Het |
Cdh2 |
T |
C |
18: 16,783,477 (GRCm39) |
D84G |
probably benign |
Het |
Cntn6 |
A |
G |
6: 104,836,387 (GRCm39) |
K918E |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,750,122 (GRCm39) |
D521G |
probably damaging |
Het |
Dync2i1 |
C |
A |
12: 116,219,681 (GRCm39) |
R87L |
probably benign |
Het |
Etv6 |
C |
T |
6: 134,225,696 (GRCm39) |
A309V |
probably benign |
Het |
Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
Figla |
T |
C |
6: 85,994,345 (GRCm39) |
L40P |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,790,939 (GRCm39) |
Q301L |
probably damaging |
Het |
Glt1d1 |
G |
A |
5: 127,783,984 (GRCm39) |
V313M |
possibly damaging |
Het |
Gm28778 |
T |
A |
1: 53,357,120 (GRCm39) |
I94K |
possibly damaging |
Het |
Gm4847 |
T |
C |
1: 166,469,765 (GRCm39) |
K103E |
probably benign |
Het |
Gne |
A |
G |
4: 44,066,852 (GRCm39) |
S23P |
probably damaging |
Het |
Hipk2 |
A |
G |
6: 38,795,691 (GRCm39) |
C186R |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,464 (GRCm39) |
V283I |
probably damaging |
Het |
Mcm10 |
A |
T |
2: 5,013,511 (GRCm39) |
D40E |
possibly damaging |
Het |
Morc2b |
T |
A |
17: 33,356,387 (GRCm39) |
I462F |
possibly damaging |
Het |
Myh1 |
T |
A |
11: 67,101,441 (GRCm39) |
I711N |
probably damaging |
Het |
Oit3 |
A |
G |
10: 59,274,477 (GRCm39) |
F108L |
probably damaging |
Het |
Or4f4b |
T |
C |
2: 111,313,816 (GRCm39) |
F14L |
probably benign |
Het |
Or8b49 |
T |
A |
9: 38,505,715 (GRCm39) |
L66* |
probably null |
Het |
Polr1g |
T |
C |
7: 19,091,003 (GRCm39) |
K368R |
probably damaging |
Het |
Rbm19 |
A |
G |
5: 120,258,301 (GRCm39) |
D172G |
probably damaging |
Het |
Ribc2 |
A |
G |
15: 85,027,536 (GRCm39) |
D339G |
possibly damaging |
Het |
Rras2 |
C |
A |
7: 113,659,597 (GRCm39) |
V56L |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,594,002 (GRCm39) |
E1617G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,118,030 (GRCm39) |
M236L |
probably benign |
Het |
Snrnp27 |
C |
T |
6: 86,659,955 (GRCm39) |
R13H |
unknown |
Het |
Srgap2 |
T |
C |
1: 131,224,173 (GRCm39) |
K92E |
probably damaging |
Het |
Suco |
T |
C |
1: 161,684,428 (GRCm39) |
K231E |
possibly damaging |
Het |
Tll2 |
C |
A |
19: 41,087,088 (GRCm39) |
E588* |
probably null |
Het |
Tmem215 |
A |
T |
4: 40,473,940 (GRCm39) |
I6L |
possibly damaging |
Het |
Tnc |
A |
C |
4: 63,884,909 (GRCm39) |
|
probably benign |
Het |
Tob1 |
G |
A |
11: 94,105,052 (GRCm39) |
G196D |
probably benign |
Het |
Ubtfl1 |
T |
A |
9: 18,320,849 (GRCm39) |
Y126N |
possibly damaging |
Het |
Uck1 |
G |
T |
2: 32,148,149 (GRCm39) |
Q192K |
probably damaging |
Het |
Vdac3-ps1 |
A |
G |
13: 18,205,469 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r88 |
C |
T |
7: 12,911,719 (GRCm39) |
S25L |
probably benign |
Het |
Vmn2r109 |
T |
G |
17: 20,761,342 (GRCm39) |
I672L |
probably benign |
Het |
Vmn2r23 |
T |
C |
6: 123,718,819 (GRCm39) |
F724S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,088 (GRCm39) |
F282Y |
probably damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,215,057 (GRCm39) |
I347F |
probably benign |
Het |
Wasf2 |
G |
A |
4: 132,923,112 (GRCm39) |
R474H |
probably damaging |
Het |
Zmym5 |
T |
C |
14: 57,041,617 (GRCm39) |
H162R |
possibly damaging |
Het |
|
Other mutations in Abi2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01097:Abi2
|
APN |
1 |
60,486,505 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01369:Abi2
|
APN |
1 |
60,476,215 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02074:Abi2
|
APN |
1 |
60,486,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02897:Abi2
|
APN |
1 |
60,487,353 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02957:Abi2
|
APN |
1 |
60,509,945 (GRCm39) |
missense |
probably damaging |
1.00 |
1mM(1):Abi2
|
UTSW |
1 |
60,476,216 (GRCm39) |
missense |
probably damaging |
1.00 |
P0026:Abi2
|
UTSW |
1 |
60,492,882 (GRCm39) |
missense |
probably benign |
0.42 |
R0062:Abi2
|
UTSW |
1 |
60,492,884 (GRCm39) |
missense |
probably benign |
0.42 |
R0062:Abi2
|
UTSW |
1 |
60,492,884 (GRCm39) |
missense |
probably benign |
0.42 |
R3946:Abi2
|
UTSW |
1 |
60,492,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R4793:Abi2
|
UTSW |
1 |
60,448,963 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5110:Abi2
|
UTSW |
1 |
60,489,280 (GRCm39) |
missense |
probably benign |
0.00 |
R5557:Abi2
|
UTSW |
1 |
60,478,071 (GRCm39) |
unclassified |
probably benign |
|
R6037:Abi2
|
UTSW |
1 |
60,503,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Abi2
|
UTSW |
1 |
60,503,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6368:Abi2
|
UTSW |
1 |
60,492,810 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6481:Abi2
|
UTSW |
1 |
60,478,098 (GRCm39) |
splice site |
probably null |
|
R7393:Abi2
|
UTSW |
1 |
60,473,541 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7460:Abi2
|
UTSW |
1 |
60,473,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R7573:Abi2
|
UTSW |
1 |
60,509,867 (GRCm39) |
missense |
probably benign |
0.37 |
R7744:Abi2
|
UTSW |
1 |
60,476,362 (GRCm39) |
missense |
probably benign |
0.00 |
R8843:Abi2
|
UTSW |
1 |
60,492,888 (GRCm39) |
missense |
probably null |
|
R8988:Abi2
|
UTSW |
1 |
60,489,251 (GRCm39) |
missense |
probably benign |
0.08 |
R9464:Abi2
|
UTSW |
1 |
60,478,100 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9528:Abi2
|
UTSW |
1 |
60,473,453 (GRCm39) |
missense |
probably damaging |
0.99 |
R9569:Abi2
|
UTSW |
1 |
60,503,763 (GRCm39) |
missense |
probably damaging |
0.97 |
R9576:Abi2
|
UTSW |
1 |
60,449,008 (GRCm39) |
missense |
possibly damaging |
0.68 |
Z1177:Abi2
|
UTSW |
1 |
60,476,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |