Incidental Mutation 'R0062:Abi2'
| ID |
18095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi2
|
| Ensembl Gene |
ENSMUSG00000026782 |
| Gene Name |
abl interactor 2 |
| Synonyms |
8430425M24Rik |
| MMRRC Submission |
038354-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0062 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60492884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 182
(N182K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000188618]
[ENSMUST00000189980]
[ENSMUST00000190158]
|
| AlphaFold |
P62484 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052332
AA Change: N318K
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: N318K
| 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 |
unknown
Transcript: ENSMUST00000185788
AA Change: N232K
|
| SMART Domains |
Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
AA Change: N232K
| 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
AA Change: N238K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: N238K
| 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 |
unknown
Transcript: ENSMUST00000187400
AA Change: N123K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187709
AA Change: N318K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: N318K
| 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 |
unknown
Transcript: ENSMUST00000188594
AA Change: N330K
|
| SMART Domains |
Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: N330K
| 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 benign
Transcript: ENSMUST00000188618
AA Change: N385K
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: N385K
| 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 benign
Transcript: ENSMUST00000189980
AA Change: N352K
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: N352K
| 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 |
probably benign
Transcript: ENSMUST00000190158
AA Change: N182K
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: N182K
| 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 |
|
| Meta Mutation Damage Score |
0.0706 |
| Coding Region Coverage |
- 1x: 90.3%
- 3x: 88.1%
- 10x: 83.4%
- 20x: 77.5%
|
| Validation Efficiency |
91% (72/79) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
T |
10: 120,614,511 (GRCm39) |
|
probably benign |
Het |
| Adam25 |
A |
T |
8: 41,207,829 (GRCm39) |
H365L |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,603,030 (GRCm39) |
Y20N |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,093,150 (GRCm39) |
I977N |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,648,343 (GRCm39) |
Y161H |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,579,198 (GRCm39) |
D1480G |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,726,613 (GRCm39) |
Y1143F |
unknown |
Het |
| Clk3 |
A |
G |
9: 57,659,449 (GRCm39) |
M533T |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cnbd1 |
A |
G |
4: 18,860,504 (GRCm39) |
I414T |
possibly damaging |
Het |
| Commd3 |
A |
T |
2: 18,679,514 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,984,685 (GRCm39) |
F3128I |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,379,224 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
C |
T |
18: 43,466,941 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
T |
A |
14: 67,475,989 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,624 (GRCm39) |
E250G |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,436,015 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,179,621 (GRCm39) |
I2929V |
probably benign |
Het |
| Gm11232 |
T |
A |
4: 71,675,112 (GRCm39) |
Q130L |
possibly damaging |
Het |
| Gna15 |
A |
G |
10: 81,348,239 (GRCm39) |
|
probably null |
Het |
| Gtf3c5 |
T |
C |
2: 28,462,198 (GRCm39) |
|
probably benign |
Het |
| Irs2 |
G |
A |
8: 11,055,723 (GRCm39) |
T903I |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,276,621 (GRCm39) |
T395A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,727,225 (GRCm39) |
V593M |
possibly damaging |
Het |
| Kprp |
T |
C |
3: 92,731,989 (GRCm39) |
S354G |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,694,443 (GRCm39) |
K151E |
probably damaging |
Het |
| Letm2 |
A |
T |
8: 26,077,464 (GRCm39) |
|
probably benign |
Het |
| Lipe |
A |
G |
7: 25,097,874 (GRCm39) |
V23A |
possibly damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mthfd1 |
G |
A |
12: 76,344,363 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
C |
A |
1: 60,286,876 (GRCm39) |
N899K |
probably benign |
Het |
| Odad2 |
T |
A |
18: 7,129,593 (GRCm39) |
|
probably benign |
Het |
| Or10ak14 |
T |
C |
4: 118,611,100 (GRCm39) |
I212V |
probably benign |
Het |
| Or4c118 |
T |
C |
2: 88,974,966 (GRCm39) |
I134V |
possibly damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,139,681 (GRCm39) |
W437R |
probably benign |
Het |
| Pcdhga11 |
T |
G |
18: 37,941,528 (GRCm39) |
I643S |
probably benign |
Het |
| Pik3r6 |
T |
A |
11: 68,419,635 (GRCm39) |
Y149N |
probably damaging |
Het |
| Pja2 |
C |
A |
17: 64,615,966 (GRCm39) |
V310L |
probably damaging |
Het |
| Ripor3 |
A |
G |
2: 167,826,358 (GRCm39) |
|
probably benign |
Het |
| Rpa2 |
C |
A |
4: 132,505,125 (GRCm39) |
N251K |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,029,090 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,884,002 (GRCm39) |
|
probably null |
Het |
| Scara3 |
T |
C |
14: 66,168,417 (GRCm39) |
N400S |
probably damaging |
Het |
| Slc8b1 |
T |
A |
5: 120,659,928 (GRCm39) |
|
probably null |
Het |
| Slco1a4 |
G |
A |
6: 141,765,205 (GRCm39) |
Q346* |
probably null |
Het |
| Stk32b |
A |
G |
5: 37,618,792 (GRCm39) |
S229P |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,704,508 (GRCm39) |
R487G |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,355 (GRCm39) |
|
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,317,654 (GRCm39) |
V396A |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,719,003 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,646,054 (GRCm39) |
H1994Q |
probably damaging |
Het |
| Wdr36 |
T |
G |
18: 32,997,802 (GRCm39) |
V820G |
possibly damaging |
Het |
| Wdr83 |
G |
A |
8: 85,806,456 (GRCm39) |
T114I |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,252,658 (GRCm39) |
K1324E |
probably benign |
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 |
|
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 |
|
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 |
2013-03-25 |
Incidental Mutation