Incidental Mutation 'R6037:Abi2'
ID |
479241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abi2
|
Ensembl Gene |
ENSMUSG00000026782 |
Gene Name |
abl interactor 2 |
Synonyms |
8430425M24Rik |
MMRRC Submission |
043258-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6037 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 60503738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 212
(P212T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000190158]
[ENSMUST00000189980]
[ENSMUST00000188618]
|
AlphaFold |
P62484 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052332
|
SMART Domains |
Protein: ENSMUSP00000058754 Gene: ENSMUSG00000026782
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: P268T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139501 Gene: ENSMUSG00000026782 AA Change: P268T
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: P348T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139867 Gene: ENSMUSG00000026782 AA Change: P348T
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: ENSMUST00000190158
AA Change: P212T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139743 Gene: ENSMUSG00000026782 AA Change: P212T
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: ENSMUST00000189980
|
SMART Domains |
Protein: ENSMUSP00000141068 Gene: ENSMUSG00000026782
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: ENSMUST00000188618
|
SMART Domains |
Protein: ENSMUSP00000140274 Gene: ENSMUSG00000026782
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.4%
- 20x: 72.6%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Ano4 |
A |
G |
10: 89,153,108 (GRCm39) |
F68S |
possibly damaging |
Het |
Art5 |
C |
A |
7: 101,747,591 (GRCm39) |
A63S |
probably benign |
Het |
Asgr1 |
T |
A |
11: 69,947,247 (GRCm39) |
S96R |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,163,957 (GRCm39) |
V2248D |
possibly damaging |
Het |
Cacna1s |
C |
T |
1: 135,998,705 (GRCm39) |
A200V |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,390,738 (GRCm39) |
K357E |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,864,282 (GRCm38) |
N348S |
probably damaging |
Het |
Cfap52 |
C |
T |
11: 67,837,126 (GRCm39) |
G212R |
probably benign |
Het |
Dcun1d3 |
A |
G |
7: 119,456,965 (GRCm39) |
F249S |
probably damaging |
Het |
Ece2 |
A |
G |
16: 20,449,112 (GRCm39) |
Y17C |
probably damaging |
Het |
Efemp1 |
C |
T |
11: 28,871,760 (GRCm39) |
T425I |
probably damaging |
Het |
Eprs1 |
A |
G |
1: 185,128,306 (GRCm39) |
E562G |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,177,295 (GRCm39) |
T2001A |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,527,867 (GRCm39) |
R940H |
probably damaging |
Het |
Fry |
T |
A |
5: 150,351,644 (GRCm39) |
M1716K |
probably benign |
Het |
Gm10684 |
T |
A |
9: 45,019,039 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,311,416 (GRCm39) |
V1219I |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Il23r |
C |
T |
6: 67,455,938 (GRCm39) |
V177M |
probably damaging |
Het |
Klf12 |
T |
C |
14: 100,137,650 (GRCm39) |
S299G |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,848,806 (GRCm39) |
R265C |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,216,424 (GRCm39) |
T800A |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,063,831 (GRCm39) |
L2729P |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,298,532 (GRCm39) |
S2167R |
possibly damaging |
Het |
Mus81 |
T |
C |
19: 5,534,032 (GRCm39) |
K400E |
probably damaging |
Het |
Nomo1 |
T |
A |
7: 45,712,423 (GRCm39) |
I656N |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,384 (GRCm39) |
T418A |
probably benign |
Het |
Olr1 |
A |
G |
6: 129,470,504 (GRCm39) |
L221P |
probably damaging |
Het |
Or14c44 |
C |
T |
7: 86,062,478 (GRCm39) |
L303F |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,876,928 (GRCm39) |
M34T |
probably benign |
Het |
Or8b3 |
T |
A |
9: 38,314,601 (GRCm39) |
C144S |
probably benign |
Het |
Or8g22 |
A |
G |
9: 38,958,403 (GRCm39) |
V104A |
probably damaging |
Het |
Or8k28 |
T |
A |
2: 86,286,133 (GRCm39) |
I161L |
probably benign |
Het |
Pih1d1 |
C |
T |
7: 44,805,738 (GRCm39) |
A69V |
probably damaging |
Het |
Pkdrej |
A |
C |
15: 85,703,967 (GRCm39) |
S656R |
probably damaging |
Het |
Polr3f |
A |
G |
2: 144,377,943 (GRCm39) |
D171G |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,787,566 (GRCm39) |
V11A |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sptbn4 |
T |
A |
7: 27,063,595 (GRCm39) |
Y2277F |
probably damaging |
Het |
St6galnac6 |
A |
G |
2: 32,502,240 (GRCm39) |
Q7R |
probably damaging |
Het |
Thrsp |
T |
G |
7: 97,066,499 (GRCm39) |
D71A |
possibly damaging |
Het |
Vmn2r1 |
C |
A |
3: 63,989,150 (GRCm39) |
Q30K |
probably benign |
Het |
Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
Wipf2 |
C |
T |
11: 98,787,005 (GRCm39) |
P345S |
probably benign |
Het |
Zeb2 |
G |
T |
2: 44,878,652 (GRCm39) |
S1170* |
probably null |
Het |
Zfp947 |
A |
G |
17: 22,366,415 (GRCm39) |
Y38H |
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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |