Incidental Mutation 'R6368:Abi2'
| ID |
512768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abi2
|
| Ensembl Gene |
ENSMUSG00000026782 |
| Gene Name |
abl interactor 2 |
| Synonyms |
8430425M24Rik |
| MMRRC Submission |
044518-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60492810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 158
(T158A)
|
| 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: T294A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: T294A
| 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: T208A
|
| SMART Domains |
Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
AA Change: T208A
| 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: T214A
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: T214A
| 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: T99A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187709
AA Change: T294A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: T294A
| 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: T306A
|
| SMART Domains |
Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: T306A
| 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: T361A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: T361A
| 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: T328A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: T328A
| 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 |
possibly damaging
Transcript: ENSMUST00000190158
AA Change: T158A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: T158A
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
C |
A |
9: 55,897,416 (GRCm39) |
E272D |
possibly damaging |
Het |
| Acacb |
T |
C |
5: 114,354,884 (GRCm39) |
S1221P |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,578 (GRCm39) |
D370G |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,964,442 (GRCm39) |
I487T |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,382,808 (GRCm39) |
N1297K |
possibly damaging |
Het |
| Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,510,771 (GRCm39) |
|
probably null |
Het |
| Bsn |
C |
T |
9: 107,988,513 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
C |
T |
10: 112,030,873 (GRCm39) |
Q268* |
probably null |
Het |
| Cnfn |
C |
T |
7: 25,067,386 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 194,850,780 (GRCm39) |
S229P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,435,806 (GRCm39) |
Y1050C |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,480,934 (GRCm39) |
E307G |
probably damaging |
Het |
| Cyb5r3 |
A |
C |
15: 83,044,325 (GRCm39) |
Y182D |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,535,223 (GRCm39) |
H120Q |
probably benign |
Het |
| Ddx6 |
T |
C |
9: 44,547,073 (GRCm39) |
I457T |
probably damaging |
Het |
| E2f1 |
A |
T |
2: 154,406,396 (GRCm39) |
H93Q |
possibly damaging |
Het |
| Fam186a |
T |
C |
15: 99,841,198 (GRCm39) |
K1682R |
possibly damaging |
Het |
| Farsb |
A |
G |
1: 78,443,602 (GRCm39) |
|
probably null |
Het |
| Flii |
A |
T |
11: 60,611,962 (GRCm39) |
L347Q |
probably damaging |
Het |
| Galntl6 |
T |
G |
8: 59,364,475 (GRCm39) |
T12P |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm21680 |
T |
C |
5: 26,174,034 (GRCm39) |
N190S |
probably damaging |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,525 (GRCm39) |
S364G |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,400,345 (GRCm39) |
I234T |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,526,945 (GRCm39) |
C356R |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,665,785 (GRCm39) |
C174* |
probably null |
Het |
| Krt16 |
T |
A |
11: 100,137,502 (GRCm39) |
D401V |
probably damaging |
Het |
| Ltb4r1 |
A |
C |
14: 56,005,200 (GRCm39) |
I168L |
probably benign |
Het |
| Luzp1 |
T |
A |
4: 136,269,091 (GRCm39) |
M438K |
probably benign |
Het |
| Mtf1 |
C |
T |
4: 124,718,145 (GRCm39) |
T281M |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,832,231 (GRCm39) |
S2587T |
probably benign |
Het |
| Or13a21 |
G |
T |
7: 139,999,580 (GRCm39) |
Y35* |
probably null |
Het |
| Or1ad1 |
T |
A |
11: 50,875,613 (GRCm39) |
F28L |
probably benign |
Het |
| Or4f58 |
A |
T |
2: 111,851,896 (GRCm39) |
I101N |
probably damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,705 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,746,581 (GRCm39) |
F1221Y |
probably benign |
Het |
| Pnldc1 |
A |
T |
17: 13,124,751 (GRCm39) |
N90K |
probably damaging |
Het |
| Prickle2 |
A |
T |
6: 92,397,218 (GRCm39) |
L169Q |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,712,144 (GRCm39) |
L147I |
probably damaging |
Het |
| Rfx3 |
A |
T |
19: 27,746,009 (GRCm39) |
L674Q |
possibly damaging |
Het |
| Rpl3 |
C |
A |
15: 79,966,745 (GRCm39) |
L14F |
probably damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,831,475 (GRCm39) |
G231R |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,620,980 (GRCm39) |
L529F |
probably damaging |
Het |
| Slain1 |
A |
T |
14: 103,894,391 (GRCm39) |
T193S |
probably benign |
Het |
| Slc2a6 |
G |
T |
2: 26,914,599 (GRCm39) |
Q256K |
possibly damaging |
Het |
| Slk |
A |
G |
19: 47,608,622 (GRCm39) |
E525G |
possibly damaging |
Het |
| Spsb4 |
G |
T |
9: 96,826,698 (GRCm39) |
Q252K |
probably benign |
Het |
| Taf1b |
A |
G |
12: 24,608,256 (GRCm39) |
T552A |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,802,945 (GRCm39) |
|
probably null |
Het |
| Tph2 |
T |
C |
10: 115,015,231 (GRCm39) |
H177R |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,373,818 (GRCm39) |
S332P |
probably damaging |
Het |
| Twf2 |
T |
G |
9: 106,090,032 (GRCm39) |
N128K |
probably benign |
Het |
| Vegfc |
T |
A |
8: 54,634,265 (GRCm39) |
C315S |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,889 (GRCm39) |
K136N |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,214,814 (GRCm39) |
E496G |
probably damaging |
Het |
| Zfp148 |
C |
A |
16: 33,317,568 (GRCm39) |
Q705K |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,984,535 (GRCm39) |
A539V |
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 |
|
R6037:Abi2
|
UTSW |
1 |
60,503,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
PCR Primer
(F):5'- AGTTAGCTATACTGGAGACTTGGTG -3'
(R):5'- GATAAACACCTATCATGTATGGGC -3'
Sequencing Primer
(F):5'- GCTTTAATACAGTATCAGCTGTCATC -3'
(R):5'- CACCTATCATGTATGGGCTAATTATG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation