Incidental Mutation 'IGL03384:Ablim2'
ID |
420796 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ablim2
|
Ensembl Gene |
ENSMUSG00000029095 |
Gene Name |
actin-binding LIM protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
IGL03384
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36032216 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 614
(R614C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114203]
[ENSMUST00000114204]
[ENSMUST00000114205]
[ENSMUST00000114206]
[ENSMUST00000114210]
[ENSMUST00000129347]
|
AlphaFold |
Q8BL65 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054598
AA Change: R562C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050571 Gene: ENSMUSG00000029095 AA Change: R562C
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
low complexity region
|
278 |
296 |
N/A |
INTRINSIC |
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
low complexity region
|
477 |
489 |
N/A |
INTRINSIC |
VHP
|
577 |
612 |
2.34e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101280
AA Change: R557C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098838 Gene: ENSMUSG00000029095 AA Change: R557C
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
low complexity region
|
297 |
315 |
N/A |
INTRINSIC |
low complexity region
|
383 |
392 |
N/A |
INTRINSIC |
low complexity region
|
511 |
523 |
N/A |
INTRINSIC |
VHP
|
572 |
607 |
2.34e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114203
AA Change: R296C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109841 Gene: ENSMUSG00000029095 AA Change: R296C
Domain | Start | End | E-Value | Type |
PDB:1WIG|A
|
1 |
28 |
5e-13 |
PDB |
low complexity region
|
35 |
53 |
N/A |
INTRINSIC |
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
low complexity region
|
211 |
223 |
N/A |
INTRINSIC |
VHP
|
311 |
346 |
2.34e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114204
AA Change: R556C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109842 Gene: ENSMUSG00000029095 AA Change: R556C
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
low complexity region
|
278 |
296 |
N/A |
INTRINSIC |
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
low complexity region
|
510 |
522 |
N/A |
INTRINSIC |
VHP
|
571 |
606 |
2.34e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114205
AA Change: R523C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109843 Gene: ENSMUSG00000029095 AA Change: R523C
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
low complexity region
|
278 |
296 |
N/A |
INTRINSIC |
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
low complexity region
|
477 |
489 |
N/A |
INTRINSIC |
VHP
|
538 |
573 |
2.34e-19 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114206
AA Change: R567C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109844 Gene: ENSMUSG00000029095 AA Change: R567C
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
low complexity region
|
278 |
296 |
N/A |
INTRINSIC |
low complexity region
|
375 |
384 |
N/A |
INTRINSIC |
low complexity region
|
521 |
533 |
N/A |
INTRINSIC |
VHP
|
582 |
617 |
2.34e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114210
|
SMART Domains |
Protein: ENSMUSP00000109848 Gene: ENSMUSG00000029095
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
low complexity region
|
278 |
296 |
N/A |
INTRINSIC |
low complexity region
|
364 |
373 |
N/A |
INTRINSIC |
low complexity region
|
510 |
522 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129347
AA Change: R614C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123525 Gene: ENSMUSG00000029095 AA Change: R614C
Domain | Start | End | E-Value | Type |
LIM
|
23 |
74 |
2.76e-8 |
SMART |
LIM
|
82 |
134 |
1.26e-11 |
SMART |
LIM
|
152 |
203 |
9.6e-17 |
SMART |
LIM
|
211 |
263 |
4.96e-10 |
SMART |
Pfam:AbLIM_anchor
|
295 |
513 |
2.1e-78 |
PFAM |
Pfam:AbLIM_anchor
|
497 |
628 |
2.6e-37 |
PFAM |
VHP
|
629 |
664 |
2.34e-19 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151636
AA Change: R216C
|
SMART Domains |
Protein: ENSMUSP00000123616 Gene: ENSMUSG00000029095 AA Change: R216C
Domain | Start | End | E-Value | Type |
Pfam:AbLIM_anchor
|
22 |
148 |
5.6e-54 |
PFAM |
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000153529
AA Change: R58C
|
SMART Domains |
Protein: ENSMUSP00000118019 Gene: ENSMUSG00000029095 AA Change: R58C
Domain | Start | End | E-Value | Type |
Pfam:AbLIM_anchor
|
43 |
73 |
1.7e-17 |
PFAM |
VHP
|
74 |
109 |
2.34e-19 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
G |
11: 72,086,673 (GRCm39) |
I246T |
possibly damaging |
Het |
B4galt7 |
T |
C |
13: 55,757,102 (GRCm39) |
L265P |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,462,159 (GRCm39) |
C1072Y |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,197,950 (GRCm39) |
V148A |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,573,514 (GRCm39) |
V2942M |
probably benign |
Het |
Fam124b |
T |
A |
1: 80,177,673 (GRCm39) |
H442L |
probably benign |
Het |
Haus6 |
T |
C |
4: 86,501,762 (GRCm39) |
H703R |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,751,368 (GRCm39) |
T1573A |
probably benign |
Het |
Iftap |
G |
T |
2: 101,415,608 (GRCm39) |
T115N |
probably benign |
Het |
Ighv1-31 |
A |
G |
12: 114,793,093 (GRCm39) |
F48L |
probably benign |
Het |
Iws1 |
C |
A |
18: 32,226,203 (GRCm39) |
A697D |
probably damaging |
Het |
Jhy |
T |
A |
9: 40,872,228 (GRCm39) |
N94Y |
probably benign |
Het |
Kank2 |
C |
T |
9: 21,685,874 (GRCm39) |
V667M |
possibly damaging |
Het |
Mcam |
G |
A |
9: 44,051,809 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,366,140 (GRCm39) |
I2099F |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,742,800 (GRCm39) |
I410V |
probably damaging |
Het |
Nub1 |
A |
T |
5: 24,902,425 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
T |
5: 24,902,424 (GRCm39) |
|
probably null |
Het |
Or10g9b |
T |
C |
9: 39,917,766 (GRCm39) |
T160A |
probably benign |
Het |
Panx2 |
C |
T |
15: 88,952,322 (GRCm39) |
A271V |
possibly damaging |
Het |
Papss1 |
T |
A |
3: 131,285,113 (GRCm39) |
H13Q |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,784,871 (GRCm39) |
T438A |
probably benign |
Het |
Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
Ptchd4 |
T |
A |
17: 42,813,481 (GRCm39) |
C461S |
probably damaging |
Het |
Rapgef2 |
A |
G |
3: 78,990,853 (GRCm39) |
F985S |
probably damaging |
Het |
Rbm25 |
T |
C |
12: 83,706,297 (GRCm39) |
I214T |
probably benign |
Het |
Sgpp1 |
T |
C |
12: 75,762,880 (GRCm39) |
|
probably benign |
Het |
Slc22a20 |
A |
T |
19: 6,030,402 (GRCm39) |
C343* |
probably null |
Het |
Slc22a22 |
T |
C |
15: 57,117,612 (GRCm39) |
I310V |
probably benign |
Het |
Slc6a13 |
T |
C |
6: 121,309,350 (GRCm39) |
F287S |
probably damaging |
Het |
Usp30 |
A |
G |
5: 114,259,635 (GRCm39) |
D447G |
probably damaging |
Het |
Vmn1r78 |
A |
T |
7: 11,887,136 (GRCm39) |
Y249F |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,488,405 (GRCm39) |
T665A |
probably damaging |
Het |
Vps37b |
A |
G |
5: 124,145,670 (GRCm39) |
|
probably null |
Het |
Wfdc1 |
T |
A |
8: 120,413,016 (GRCm39) |
N198K |
probably benign |
Het |
|
Other mutations in Ablim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00939:Ablim2
|
APN |
5 |
35,981,359 (GRCm39) |
unclassified |
probably benign |
|
IGL00945:Ablim2
|
APN |
5 |
35,994,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02439:Ablim2
|
APN |
5 |
36,015,206 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02664:Ablim2
|
APN |
5 |
36,006,860 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02897:Ablim2
|
APN |
5 |
35,990,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03034:Ablim2
|
APN |
5 |
35,985,509 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03096:Ablim2
|
APN |
5 |
36,040,743 (GRCm39) |
nonsense |
probably null |
|
R0128:Ablim2
|
UTSW |
5 |
35,966,520 (GRCm39) |
splice site |
probably benign |
|
R0130:Ablim2
|
UTSW |
5 |
35,966,520 (GRCm39) |
splice site |
probably benign |
|
R0212:Ablim2
|
UTSW |
5 |
36,006,254 (GRCm39) |
splice site |
probably null |
|
R0344:Ablim2
|
UTSW |
5 |
35,994,277 (GRCm39) |
splice site |
probably benign |
|
R0675:Ablim2
|
UTSW |
5 |
36,024,124 (GRCm39) |
splice site |
probably benign |
|
R0788:Ablim2
|
UTSW |
5 |
36,015,245 (GRCm39) |
missense |
probably benign |
0.01 |
R1148:Ablim2
|
UTSW |
5 |
35,966,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Ablim2
|
UTSW |
5 |
35,966,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R1493:Ablim2
|
UTSW |
5 |
35,966,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Ablim2
|
UTSW |
5 |
36,000,614 (GRCm39) |
intron |
probably benign |
|
R2070:Ablim2
|
UTSW |
5 |
35,955,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Ablim2
|
UTSW |
5 |
35,959,697 (GRCm39) |
splice site |
probably benign |
|
R3962:Ablim2
|
UTSW |
5 |
35,969,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R4852:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4853:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4854:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4855:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4866:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4867:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4906:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4908:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4909:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4927:Ablim2
|
UTSW |
5 |
35,959,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5210:Ablim2
|
UTSW |
5 |
35,994,416 (GRCm39) |
missense |
probably benign |
0.44 |
R5225:Ablim2
|
UTSW |
5 |
36,024,115 (GRCm39) |
splice site |
probably null |
|
R5439:Ablim2
|
UTSW |
5 |
36,015,170 (GRCm39) |
missense |
probably damaging |
0.98 |
R5528:Ablim2
|
UTSW |
5 |
36,013,510 (GRCm39) |
nonsense |
probably null |
|
R5629:Ablim2
|
UTSW |
5 |
36,014,507 (GRCm39) |
missense |
probably benign |
0.01 |
R5653:Ablim2
|
UTSW |
5 |
36,040,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R5921:Ablim2
|
UTSW |
5 |
35,969,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Ablim2
|
UTSW |
5 |
36,014,508 (GRCm39) |
missense |
probably benign |
0.37 |
R6241:Ablim2
|
UTSW |
5 |
36,032,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7492:Ablim2
|
UTSW |
5 |
35,998,673 (GRCm39) |
missense |
probably benign |
0.14 |
R7562:Ablim2
|
UTSW |
5 |
36,030,563 (GRCm39) |
missense |
probably benign |
0.00 |
R7960:Ablim2
|
UTSW |
5 |
36,014,493 (GRCm39) |
missense |
probably benign |
0.01 |
R8414:Ablim2
|
UTSW |
5 |
36,032,235 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8557:Ablim2
|
UTSW |
5 |
35,985,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R8690:Ablim2
|
UTSW |
5 |
36,030,518 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8710:Ablim2
|
UTSW |
5 |
36,030,518 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8713:Ablim2
|
UTSW |
5 |
36,030,518 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9059:Ablim2
|
UTSW |
5 |
35,959,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Ablim2
|
UTSW |
5 |
36,015,198 (GRCm39) |
missense |
probably benign |
0.00 |
R9622:Ablim2
|
UTSW |
5 |
36,006,889 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ablim2
|
UTSW |
5 |
36,006,202 (GRCm39) |
missense |
possibly damaging |
0.84 |
Z1177:Ablim2
|
UTSW |
5 |
35,998,637 (GRCm39) |
small deletion |
probably benign |
|
Z1177:Ablim2
|
UTSW |
5 |
35,981,387 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1188:Ablim2
|
UTSW |
5 |
35,994,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |