Incidental Mutation 'IGL02957:Abi2'
| ID |
365172 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Abi2
|
| Ensembl Gene |
ENSMUSG00000026782 |
| Gene Name |
abl interactor 2 |
| Synonyms |
8430425M24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
60448778-60520317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60509945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| 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 damaging
Transcript: ENSMUST00000052332
AA Change: D371G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: D371G
| 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: D285G
|
| SMART Domains |
Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
AA Change: D285G
| 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 |
possibly damaging
Transcript: ENSMUST00000186097
AA Change: D320G
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: D320G
| 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: D176G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187709
AA Change: D400G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: D400G
| 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: D383G
|
| SMART Domains |
Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: D383G
| 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: D438G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: D438G
| 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 damaging
Transcript: ENSMUST00000189980
AA Change: D405G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: D405G
| 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 damaging
Transcript: ENSMUST00000190158
AA Change: D262G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: D262G
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
A |
10: 85,469,701 (GRCm39) |
M405K |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,467,150 (GRCm39) |
|
probably benign |
Het |
| Ahcyl1 |
G |
T |
3: 107,574,958 (GRCm39) |
Q462K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,623,652 (GRCm39) |
T20A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,634,068 (GRCm39) |
Y594N |
possibly damaging |
Het |
| Crtc2 |
C |
T |
3: 90,169,840 (GRCm39) |
P412L |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,716,472 (GRCm39) |
R373* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,840,197 (GRCm39) |
D1277G |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,339,333 (GRCm39) |
V3058E |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,028 (GRCm39) |
L481P |
probably benign |
Het |
| Fbxw7 |
A |
T |
3: 84,883,544 (GRCm39) |
T573S |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,791,272 (GRCm39) |
Y844* |
probably null |
Het |
| Fcrl2 |
C |
A |
3: 87,169,501 (GRCm39) |
V13F |
possibly damaging |
Het |
| Gbx2 |
T |
G |
1: 89,858,375 (GRCm39) |
S35R |
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,049 (GRCm39) |
L86S |
probably benign |
Het |
| Hebp1 |
C |
T |
6: 135,114,990 (GRCm39) |
G157D |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,338 (GRCm39) |
V560L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,285 (GRCm39) |
I632T |
probably damaging |
Het |
| Kcnab2 |
A |
T |
4: 152,520,326 (GRCm39) |
S5T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,054,439 (GRCm39) |
S502G |
probably benign |
Het |
| Lpcat2 |
T |
A |
8: 93,602,212 (GRCm39) |
Y224* |
probably null |
Het |
| Mcrip2 |
A |
G |
17: 26,087,499 (GRCm39) |
V24A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,842 (GRCm39) |
K493E |
possibly damaging |
Het |
| Myl7 |
A |
G |
11: 5,847,137 (GRCm39) |
S139P |
possibly damaging |
Het |
| Npepps |
C |
T |
11: 97,133,478 (GRCm39) |
R268H |
probably damaging |
Het |
| Oas1c |
C |
T |
5: 120,943,478 (GRCm39) |
W18* |
probably null |
Het |
| Or10ak7 |
G |
T |
4: 118,791,316 (GRCm39) |
T241N |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,968,112 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
G |
T |
9: 36,549,146 (GRCm39) |
T38K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,376,304 (GRCm39) |
W989R |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,505,384 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
T |
C |
17: 56,007,009 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ppme1 |
A |
T |
7: 99,987,647 (GRCm39) |
I103K |
possibly damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,124,168 (GRCm39) |
H281R |
probably benign |
Het |
| Prep |
T |
C |
10: 45,002,126 (GRCm39) |
V427A |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,803,454 (GRCm39) |
D451G |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,534,104 (GRCm39) |
|
probably benign |
Het |
| Ramacl |
A |
T |
13: 67,056,277 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,758,440 (GRCm39) |
N32S |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,291 (GRCm39) |
L752P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,107,143 (GRCm39) |
I429N |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,445,057 (GRCm39) |
M284L |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,934 (GRCm39) |
|
probably benign |
Het |
| Tcta |
G |
A |
9: 108,182,531 (GRCm39) |
S91F |
possibly damaging |
Het |
| Traf3ip2 |
A |
T |
10: 39,530,406 (GRCm39) |
T517S |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,737 (GRCm39) |
S99P |
probably damaging |
Het |
| Vmn2r8 |
G |
A |
5: 108,950,091 (GRCm39) |
T252M |
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,130,372 (GRCm39) |
|
probably benign |
Het |
| Yipf1 |
A |
G |
4: 107,193,347 (GRCm39) |
T78A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,755 (GRCm39) |
Y233F |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation