Incidental Mutation 'P0026:Abi2'
| ID |
8236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi2
|
| Ensembl Gene |
ENSMUSG00000026782 |
| Gene Name |
abl interactor 2 |
| Synonyms |
8430425M24Rik |
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60492882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 182
(N182D)
|
| 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: N318D
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: N318D
| 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: N232D
|
| SMART Domains |
Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
AA Change: N232D
| 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: N238D
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: N238D
| 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: N123D
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187709
AA Change: N318D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: N318D
| 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: N330D
|
| SMART Domains |
Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: N330D
| 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: N385D
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: N385D
| 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: N352D
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: N352D
| 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: N182D
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: N182D
| 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 |
0.0608 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Bud13 |
A |
G |
9: 46,199,656 (GRCm39) |
H339R |
probably benign |
Het |
| Cpa1 |
T |
A |
6: 30,640,905 (GRCm39) |
M132K |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,571 (GRCm39) |
L360V |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Il12rb1 |
A |
G |
8: 71,265,185 (GRCm39) |
D167G |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,633,672 (GRCm39) |
F63I |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zfp354a |
G |
A |
11: 50,952,325 (GRCm39) |
G85R |
probably null |
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 |
|
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 |
2012-11-20 |
Incidental Mutation