Incidental Mutation 'R9528:Abi2'
ID |
719326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abi2
|
Ensembl Gene |
ENSMUSG00000026782 |
Gene Name |
abl interactor 2 |
Synonyms |
8430425M24Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9528 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60473453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 57
(S57P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000188618]
[ENSMUST00000189082]
[ENSMUST00000189980]
[ENSMUST00000190158]
|
AlphaFold |
P62484 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052332
AA Change: S57P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058754 Gene: ENSMUSG00000026782 AA Change: S57P
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: S57P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139867 Gene: ENSMUSG00000026782 AA Change: S57P
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: S57P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140750 Gene: ENSMUSG00000026782 AA Change: S57P
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: S57P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140274 Gene: ENSMUSG00000026782 AA Change: S57P
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: 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 damaging
Transcript: ENSMUST00000189980
AA Change: S57P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000141068 Gene: ENSMUSG00000026782 AA Change: S57P
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
|
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030452D12Rik |
A |
T |
8: 107,231,129 (GRCm39) |
D105V |
unknown |
Het |
Acap2 |
C |
A |
16: 30,929,908 (GRCm39) |
K358N |
possibly damaging |
Het |
Adgrd1 |
A |
G |
5: 129,256,740 (GRCm39) |
Y703C |
probably benign |
Het |
Alpi |
A |
G |
1: 87,026,772 (GRCm39) |
|
probably null |
Het |
Bpifb9b |
A |
G |
2: 154,153,297 (GRCm39) |
E121G |
probably benign |
Het |
Btnl1 |
T |
A |
17: 34,603,352 (GRCm39) |
F338I |
possibly damaging |
Het |
Clptm1l |
G |
A |
13: 73,760,550 (GRCm39) |
S311N |
possibly damaging |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
T |
A |
1: 90,731,789 (GRCm39) |
K1488M |
probably damaging |
Het |
Crot |
A |
T |
5: 9,043,575 (GRCm39) |
Y16N |
possibly damaging |
Het |
Dnajc13 |
T |
C |
9: 104,114,904 (GRCm39) |
S56G |
probably benign |
Het |
Dpep3 |
C |
A |
8: 106,704,251 (GRCm39) |
A230S |
probably benign |
Het |
Gabrr2 |
T |
C |
4: 33,081,483 (GRCm39) |
I173T |
probably benign |
Het |
Klhl5 |
T |
C |
5: 65,313,586 (GRCm39) |
|
probably null |
Het |
Lekr1 |
T |
C |
3: 65,591,608 (GRCm39) |
F115S |
unknown |
Het |
Lipc |
A |
T |
9: 70,841,841 (GRCm39) |
M1K |
probably null |
Het |
Lrfn5 |
T |
A |
12: 61,886,408 (GRCm39) |
N65K |
probably benign |
Het |
Mmp17 |
G |
C |
5: 129,683,392 (GRCm39) |
E509D |
probably benign |
Het |
Myo1f |
T |
C |
17: 33,797,156 (GRCm39) |
|
probably null |
Het |
Or10h28 |
T |
A |
17: 33,488,445 (GRCm39) |
V249E |
probably damaging |
Het |
Or14a258 |
T |
A |
7: 86,035,059 (GRCm39) |
R270* |
probably null |
Het |
Or1o3 |
T |
A |
17: 37,574,087 (GRCm39) |
H156L |
probably benign |
Het |
Or7g32 |
A |
G |
9: 19,389,444 (GRCm39) |
F34S |
probably damaging |
Het |
Pclo |
G |
A |
5: 14,727,691 (GRCm39) |
R2183Q |
unknown |
Het |
Plec |
T |
A |
15: 76,061,033 (GRCm39) |
H2968L |
possibly damaging |
Het |
Ppp2r1a |
A |
G |
17: 21,176,153 (GRCm39) |
E125G |
probably benign |
Het |
Prkcd |
T |
C |
14: 30,323,768 (GRCm39) |
D458G |
probably damaging |
Het |
Ptch1 |
A |
C |
13: 63,661,615 (GRCm39) |
N1174K |
probably benign |
Het |
Sarnp |
A |
G |
10: 128,708,326 (GRCm39) |
R180G |
probably damaging |
Het |
Secisbp2 |
A |
G |
13: 51,810,979 (GRCm39) |
K214E |
possibly damaging |
Het |
Sorl1 |
C |
A |
9: 41,933,631 (GRCm39) |
|
probably null |
Het |
Speg |
T |
A |
1: 75,364,447 (GRCm39) |
I276N |
possibly damaging |
Het |
Txnrd3 |
A |
G |
6: 89,649,954 (GRCm39) |
Y518C |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,837,960 (GRCm39) |
I964F |
possibly damaging |
Het |
Wars2 |
A |
G |
3: 99,111,922 (GRCm39) |
H140R |
possibly damaging |
Het |
Zfp148 |
T |
A |
16: 33,316,660 (GRCm39) |
I444N |
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 |
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 |
|
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 |
PCR Primer
(F):5'- TGTCATTGCTCAAAGTATACACTGG -3'
(R):5'- AGTCAACAAGCTGTGTGTTGC -3'
Sequencing Primer
(F):5'- TGCTCAAAGTATACACTGGAACTC -3'
(R):5'- CAACAAGCTGTGTGTTGCTCATAG -3'
|
Posted On |
2022-07-18 |