Incidental Mutation 'R3962:Ablim2'
| ID |
312118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ablim2
|
| Ensembl Gene |
ENSMUSG00000029095 |
| Gene Name |
actin-binding LIM protein 2 |
| Synonyms |
|
| MMRRC Submission |
040837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R3962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35969519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 211
(R211C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114203]
[ENSMUST00000114204]
[ENSMUST00000114205]
[ENSMUST00000114206]
[ENSMUST00000114210]
[ENSMUST00000129347]
[ENSMUST00000130233]
[ENSMUST00000150146]
|
| AlphaFold |
Q8BL65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054598
AA Change: R211C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000050571
Gene: ENSMUSG00000029095
AA Change: R211C
| 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 benign
Transcript: ENSMUST00000101280
AA Change: R211C
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098838
Gene: ENSMUSG00000029095
AA Change: R211C
| 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 benign
Transcript: ENSMUST00000114203
|
| SMART Domains |
Protein: ENSMUSP00000109841
Gene: ENSMUSG00000029095
| 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: R211C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109842
Gene: ENSMUSG00000029095
AA Change: R211C
| 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: R211C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109843
Gene: ENSMUSG00000029095
AA Change: R211C
| 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: R211C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109844
Gene: ENSMUSG00000029095
AA Change: R211C
| 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 damaging
Transcript: ENSMUST00000114210
AA Change: R211C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000109848
Gene: ENSMUSG00000029095
AA Change: R211C
| 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: R211C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000123525
Gene: ENSMUSG00000029095
AA Change: R211C
| 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 |
probably benign
Transcript: ENSMUST00000130233
|
| SMART Domains |
Protein: ENSMUSP00000118159
Gene: ENSMUSG00000029095
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-6 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
7e-13 |
PDB |
|
low complexity region
|
54 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150146
|
| Meta Mutation Damage Score |
0.1630 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
| Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
| Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
| Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
| Klk1 |
A |
G |
7: 43,878,973 (GRCm39) |
T256A |
possibly damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
| Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
| Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATTGTCCCCTCAGAGTAG -3'
(R):5'- TGCGACACATGATGACACTC -3'
Sequencing Primer
(F):5'- GTAGAAGGAAGCTACCCTGTCTC -3'
(R):5'- ATGACACTCGCTTACAGGTG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation