Incidental Mutation 'R3946:Abi2'
ID |
307681 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abi2
|
Ensembl Gene |
ENSMUSG00000026782 |
Gene Name |
abl interactor 2 |
Synonyms |
8430425M24Rik |
MMRRC Submission |
040827-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3946 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60492913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 328
(Q328R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052332]
[ENSMUST00000185788]
[ENSMUST00000186097]
[ENSMUST00000187709]
[ENSMUST00000188594]
[ENSMUST00000190158]
[ENSMUST00000188618]
[ENSMUST00000189980]
|
AlphaFold |
P62484 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052332
AA Change: Q328R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058754 Gene: ENSMUSG00000026782 AA Change: Q328R
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: Q242R
|
SMART Domains |
Protein: ENSMUSP00000139483 Gene: ENSMUSG00000026782 AA Change: Q242R
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: Q248R
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139501 Gene: ENSMUSG00000026782 AA Change: Q248R
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: Q133R
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187709
AA Change: Q328R
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000139867 Gene: ENSMUSG00000026782 AA Change: Q328R
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: Q340R
|
SMART Domains |
Protein: ENSMUSP00000140750 Gene: ENSMUSG00000026782 AA Change: Q340R
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: Q192R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139743 Gene: ENSMUSG00000026782 AA Change: Q192R
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: ENSMUST00000188618
AA Change: Q395R
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140274 Gene: ENSMUSG00000026782 AA Change: Q395R
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: Q362R
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000141068 Gene: ENSMUSG00000026782 AA Change: Q362R
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 |
|
Meta Mutation Damage Score |
0.1056 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
Validation Efficiency |
98% (60/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
Brca2 |
T |
A |
5: 150,460,169 (GRCm39) |
S481R |
probably damaging |
Het |
Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
Calr3 |
A |
G |
8: 73,197,464 (GRCm39) |
Y22H |
probably damaging |
Het |
Caprin1 |
T |
A |
2: 103,627,111 (GRCm39) |
I59F |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,190,636 (GRCm39) |
T442A |
probably damaging |
Het |
Chn2 |
T |
C |
6: 54,246,411 (GRCm39) |
|
probably benign |
Het |
Cic |
C |
A |
7: 24,971,771 (GRCm39) |
R501S |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
Dglucy |
T |
C |
12: 100,804,959 (GRCm39) |
|
probably null |
Het |
Dtx1 |
T |
G |
5: 120,819,351 (GRCm39) |
T616P |
possibly damaging |
Het |
Eef1g |
T |
C |
19: 8,947,341 (GRCm39) |
L171P |
probably benign |
Het |
Fam135a |
A |
G |
1: 24,069,475 (GRCm39) |
S465P |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,006,478 (GRCm39) |
C472* |
probably null |
Het |
Gm7104 |
T |
C |
12: 88,252,812 (GRCm39) |
|
noncoding transcript |
Het |
Got2 |
A |
G |
8: 96,614,858 (GRCm39) |
S26P |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,860,123 (GRCm39) |
I329M |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,272,406 (GRCm39) |
D1295E |
possibly damaging |
Het |
Hoxd12 |
G |
T |
2: 74,505,771 (GRCm39) |
R114L |
probably damaging |
Het |
Ilkap |
A |
C |
1: 91,314,972 (GRCm39) |
D124E |
probably damaging |
Het |
Maco1 |
A |
G |
4: 134,531,792 (GRCm39) |
Y626H |
probably damaging |
Het |
Med6 |
T |
C |
12: 81,628,625 (GRCm39) |
Y88C |
probably damaging |
Het |
Mep1a |
A |
T |
17: 43,785,932 (GRCm39) |
L719* |
probably null |
Het |
Mmp23 |
T |
C |
4: 155,736,480 (GRCm39) |
Y187C |
probably damaging |
Het |
Myo1g |
A |
G |
11: 6,470,760 (GRCm39) |
M32T |
possibly damaging |
Het |
Ncstn |
T |
C |
1: 171,895,061 (GRCm39) |
E614G |
probably benign |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or4f15 |
G |
A |
2: 111,813,642 (GRCm39) |
T259M |
possibly damaging |
Het |
Otub2 |
T |
A |
12: 103,359,085 (GRCm39) |
L58* |
probably null |
Het |
Pcdhga12 |
G |
A |
18: 37,900,682 (GRCm39) |
V505I |
probably benign |
Het |
Pcdhga9 |
T |
A |
18: 37,870,897 (GRCm39) |
V242D |
probably damaging |
Het |
Pex1 |
C |
T |
5: 3,676,084 (GRCm39) |
L891F |
probably damaging |
Het |
Pgm2 |
C |
T |
5: 64,269,404 (GRCm39) |
T497I |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,235,840 (GRCm39) |
F171L |
probably damaging |
Het |
Pilrb1 |
T |
G |
5: 137,855,654 (GRCm39) |
K79T |
probably benign |
Het |
Pin1 |
C |
T |
9: 20,566,660 (GRCm39) |
R21W |
probably damaging |
Het |
Prxl2c |
T |
C |
13: 64,456,912 (GRCm39) |
I104V |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
Rad17 |
G |
A |
13: 100,759,371 (GRCm39) |
A552V |
possibly damaging |
Het |
Rbbp8 |
A |
G |
18: 11,851,925 (GRCm39) |
T249A |
probably benign |
Het |
Rtkn |
A |
T |
6: 83,112,957 (GRCm39) |
I10F |
probably benign |
Het |
Scube2 |
T |
A |
7: 109,456,797 (GRCm39) |
I103F |
possibly damaging |
Het |
Sec23b |
A |
G |
2: 144,423,893 (GRCm39) |
H514R |
probably benign |
Het |
Serbp1 |
T |
A |
6: 67,249,204 (GRCm39) |
D223E |
probably benign |
Het |
Slc14a1 |
C |
A |
18: 78,154,607 (GRCm39) |
V260L |
probably benign |
Het |
Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
Stk19 |
A |
T |
17: 35,043,723 (GRCm39) |
|
probably benign |
Het |
Svs5 |
T |
C |
2: 164,079,047 (GRCm39) |
M287V |
probably benign |
Het |
Syne3 |
T |
A |
12: 104,924,325 (GRCm39) |
Q358L |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,806,984 (GRCm39) |
F58L |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,545,872 (GRCm39) |
V198A |
probably damaging |
Het |
Tle4 |
A |
T |
19: 14,574,752 (GRCm39) |
Y9N |
probably damaging |
Het |
Tmx3 |
G |
A |
18: 90,542,459 (GRCm39) |
A186T |
possibly damaging |
Het |
Traf3 |
G |
A |
12: 111,221,679 (GRCm39) |
S280N |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,059,107 (GRCm39) |
H918L |
probably damaging |
Het |
Ush2a |
T |
G |
1: 188,460,701 (GRCm39) |
V2654G |
probably benign |
Het |
Vinac1 |
A |
G |
2: 128,881,521 (GRCm39) |
L135P |
probably damaging |
Het |
Vmn2r25 |
A |
G |
6: 123,817,057 (GRCm39) |
Y175H |
probably damaging |
Het |
Zfp335 |
T |
C |
2: 164,734,109 (GRCm39) |
D1330G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGATGAGTTTCCTTTAATGATGCG -3'
(R):5'- CACAGAAAACTATTCCAATGGAGG -3'
Sequencing Primer
(F):5'- CCTTTAATGATGCGTTTGTGTTC -3'
(R):5'- TTCCAATGGAGGAAGAGCAG -3'
|
Posted On |
2015-04-17 |