Incidental Mutation 'R6241:Ablim2'
| ID |
505227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ablim2
|
| Ensembl Gene |
ENSMUSG00000029095 |
| Gene Name |
actin-binding LIM protein 2 |
| Synonyms |
|
| MMRRC Submission |
044402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R6241 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36032241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 622
(D622G)
|
| 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: D570G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: D570G
| 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: D565G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: D565G
| 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: D304G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095
AA Change: D304G
| 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: D564G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: D564G
| 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: D531G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: D531G
| 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: D575G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: D575G
| 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: D622G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: D622G
| 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: ENSMUST00000153529
AA Change: D66G
|
| SMART Domains |
Protein: ENSMUSP00000118019
Gene: ENSMUSG00000029095
AA Change: D66G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AbLIM_anchor
|
43 |
73 |
1.7e-17 |
PFAM |
|
VHP
|
74 |
109 |
2.34e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151636
|
| SMART Domains |
Protein: ENSMUSP00000123616
Gene: ENSMUSG00000029095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AbLIM_anchor
|
22 |
148 |
5.6e-54 |
PFAM |
|
low complexity region
|
171 |
183 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,623,788 (GRCm39) |
I385V |
probably benign |
Het |
| Acsbg1 |
A |
T |
9: 54,549,946 (GRCm39) |
S86T |
probably damaging |
Het |
| Adam34l |
T |
A |
8: 44,079,133 (GRCm39) |
I364L |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,846,397 (GRCm39) |
D199E |
probably damaging |
Het |
| Art2a |
T |
A |
7: 101,204,452 (GRCm39) |
M29L |
probably benign |
Het |
| Bbs2 |
C |
A |
8: 94,824,863 (GRCm39) |
|
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,815,074 (GRCm39) |
I1402N |
probably damaging |
Het |
| C1qtnf9 |
C |
A |
14: 61,017,069 (GRCm39) |
P200T |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,329,767 (GRCm39) |
Y684H |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,272 (GRCm39) |
N734D |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,460,653 (GRCm39) |
I88F |
possibly damaging |
Het |
| Dsg2 |
A |
G |
18: 20,723,274 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,394,761 (GRCm39) |
T154A |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,969,688 (GRCm39) |
V95D |
possibly damaging |
Het |
| Gmeb1 |
A |
G |
4: 131,973,324 (GRCm39) |
S62P |
probably benign |
Het |
| Golga5 |
T |
A |
12: 102,438,732 (GRCm39) |
V149D |
probably damaging |
Het |
| H1f7 |
A |
C |
15: 98,154,652 (GRCm39) |
S166A |
unknown |
Het |
| Hivep1 |
T |
C |
13: 42,311,846 (GRCm39) |
L1362P |
probably benign |
Het |
| Ift81 |
T |
C |
5: 122,740,414 (GRCm39) |
M205V |
probably benign |
Het |
| Iglv3 |
T |
A |
16: 19,059,968 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Ints9 |
C |
T |
14: 65,217,659 (GRCm39) |
T62I |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 115,096,673 (GRCm39) |
|
probably null |
Het |
| Katnip |
C |
T |
7: 125,472,006 (GRCm39) |
H1532Y |
probably benign |
Het |
| Krt77 |
A |
C |
15: 101,773,988 (GRCm39) |
I222S |
probably damaging |
Het |
| Mrps25 |
A |
G |
6: 92,160,819 (GRCm39) |
|
probably null |
Het |
| Mrps27 |
A |
G |
13: 99,548,754 (GRCm39) |
T297A |
probably benign |
Het |
| Mup15 |
A |
T |
4: 61,357,850 (GRCm39) |
L7Q |
unknown |
Het |
| Naip1 |
T |
A |
13: 100,562,169 (GRCm39) |
I999F |
probably damaging |
Het |
| Ndst1 |
A |
G |
18: 60,836,901 (GRCm39) |
F387L |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,202,151 (GRCm39) |
S71P |
probably damaging |
Het |
| Or14c41 |
C |
A |
7: 86,235,245 (GRCm39) |
A254D |
probably benign |
Het |
| Or2b4 |
A |
G |
17: 38,116,432 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or5al1 |
T |
G |
2: 85,990,380 (GRCm39) |
E111D |
probably damaging |
Het |
| Pak4 |
C |
T |
7: 28,264,690 (GRCm39) |
V71I |
possibly damaging |
Het |
| Pcolce |
A |
C |
5: 137,603,496 (GRCm39) |
S446A |
probably benign |
Het |
| Per2 |
T |
A |
1: 91,349,251 (GRCm39) |
N1040I |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,188,592 (GRCm39) |
S422T |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,332,543 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,752,094 (GRCm39) |
V100A |
possibly damaging |
Het |
| Polr1d |
C |
T |
5: 147,015,533 (GRCm39) |
T72M |
probably benign |
Het |
| Psd3 |
A |
C |
8: 68,270,791 (GRCm39) |
|
probably benign |
Het |
| Radil |
T |
C |
5: 142,480,697 (GRCm39) |
E586G |
probably damaging |
Het |
| Rnf150 |
A |
G |
8: 83,591,093 (GRCm39) |
N152S |
possibly damaging |
Het |
| Serpina1b |
T |
A |
12: 103,695,515 (GRCm39) |
|
probably null |
Het |
| Setd3 |
C |
T |
12: 108,124,114 (GRCm39) |
E192K |
probably benign |
Het |
| Ssu2 |
G |
A |
6: 112,351,781 (GRCm39) |
H315Y |
probably damaging |
Het |
| Taok3 |
T |
A |
5: 117,410,262 (GRCm39) |
M818K |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,829,471 (GRCm39) |
N1062S |
probably benign |
Het |
| Tmx4 |
C |
T |
2: 134,481,425 (GRCm39) |
|
probably benign |
Het |
| Traip |
G |
A |
9: 107,845,933 (GRCm39) |
C342Y |
probably benign |
Het |
| Traj9 |
G |
T |
14: 54,446,890 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,289 (GRCm39) |
S323P |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,879,301 (GRCm39) |
D875G |
possibly damaging |
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 |
|
|
IGL03384:Ablim2
|
APN |
5 |
36,032,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCCTTCACTAACCGATG -3'
(R):5'- CTGGGTCTGTGGCTACATTC -3'
Sequencing Primer
(F):5'- CTGCCCAGGTTAAAAGATCCTTTTTG -3'
(R):5'- GGCTACATTCCTTTGTCTTTGAAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation