Incidental Mutation 'IGL02074:Abi2'
| ID |
185936 |
| 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 # |
IGL02074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60486466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 209
(V209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140274
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000188618]
[ENSMUST00000189980]
[ENSMUST00000190158]
[ENSMUST00000189082]
|
| AlphaFold |
P62484 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052332
AA Change: V203A
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: V203A
| 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 damaging
Transcript: ENSMUST00000186097
AA Change: V62A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: V62A
| 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 |
possibly damaging
Transcript: ENSMUST00000187709
AA Change: V203A
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: V203A
| 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 benign
Transcript: ENSMUST00000188594
|
| SMART Domains |
Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
| 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: V209A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: V209A
| 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 |
possibly damaging
Transcript: ENSMUST00000189980
AA Change: V209A
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: V209A
| 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 |
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 |
|
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,184,176 (GRCm39) |
S974G |
probably benign |
Het |
| Ankrd33b |
C |
A |
15: 31,297,807 (GRCm39) |
V317F |
probably damaging |
Het |
| Arcn1 |
A |
G |
9: 44,670,309 (GRCm39) |
C106R |
probably benign |
Het |
| Arhgap35 |
T |
C |
7: 16,296,980 (GRCm39) |
H695R |
probably benign |
Het |
| Bag4 |
G |
T |
8: 26,259,383 (GRCm39) |
T272K |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,580,070 (GRCm39) |
H74R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,585,051 (GRCm39) |
A397D |
possibly damaging |
Het |
| Dhrs7b |
C |
A |
11: 60,742,580 (GRCm39) |
Q91K |
probably benign |
Het |
| Dixdc1 |
C |
T |
9: 50,613,317 (GRCm39) |
V212M |
probably benign |
Het |
| Dnaaf11 |
T |
C |
15: 66,361,339 (GRCm39) |
N54S |
probably damaging |
Het |
| Eea1 |
A |
G |
10: 95,873,349 (GRCm39) |
E1137G |
probably damaging |
Het |
| Ercc8 |
T |
C |
13: 108,295,318 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,963,297 (GRCm39) |
I1132F |
probably damaging |
Het |
| Grin1 |
C |
T |
2: 25,188,514 (GRCm39) |
V432I |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,265 (GRCm39) |
S2449G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,737,192 (GRCm39) |
|
probably benign |
Het |
| L1cam |
A |
G |
X: 72,906,619 (GRCm39) |
W275R |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,722,579 (GRCm39) |
V660A |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 71,811,006 (GRCm39) |
I656K |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,673,463 (GRCm39) |
D633G |
possibly damaging |
Het |
| Nexmif |
A |
T |
X: 103,131,497 (GRCm39) |
M140K |
probably damaging |
Het |
| Or55b3 |
G |
T |
7: 102,126,679 (GRCm39) |
H133N |
probably benign |
Het |
| Or7g33 |
A |
T |
9: 19,449,148 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or8d23 |
A |
T |
9: 38,841,979 (GRCm39) |
T171S |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,096,775 (GRCm39) |
T146A |
possibly damaging |
Het |
| Rnf123 |
A |
T |
9: 107,944,088 (GRCm39) |
L508Q |
probably damaging |
Het |
| Scaf4 |
G |
T |
16: 90,039,808 (GRCm39) |
P812T |
unknown |
Het |
| Slc45a2 |
A |
G |
15: 11,000,903 (GRCm39) |
M1V |
probably null |
Het |
| Ttr |
T |
C |
18: 20,799,580 (GRCm39) |
V46A |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,113,206 (GRCm39) |
K216R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,603 (GRCm39) |
I251V |
probably benign |
Het |
| Xlr |
A |
T |
X: 52,798,101 (GRCm39) |
|
probably benign |
Het |
| Zfp142 |
T |
G |
1: 74,609,022 (GRCm39) |
H1488P |
probably 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 |
|
IGL02028:Abi2
|
APN |
1 |
60,473,442 (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 |
Incidental Mutation