Incidental Mutation 'R5225:Ablim2'
| ID |
402546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ablim2
|
| Ensembl Gene |
ENSMUSG00000029095 |
| Gene Name |
actin-binding LIM protein 2 |
| Synonyms |
|
| MMRRC Submission |
042798-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R5225 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to T
at 36024115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114203]
[ENSMUST00000114204]
[ENSMUST00000114205]
[ENSMUST00000114206]
[ENSMUST00000114210]
[ENSMUST00000129347]
|
| AlphaFold |
Q8BL65 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000054598
|
| SMART Domains |
Protein: ENSMUSP00000050571
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
|
477 |
489 |
N/A |
INTRINSIC |
|
VHP
|
577 |
612 |
2.34e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101280
|
| SMART Domains |
Protein: ENSMUSP00000098838
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
|
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 null
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 benign
Transcript: ENSMUST00000114204
|
| SMART Domains |
Protein: ENSMUSP00000109842
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 |
|
VHP
|
571 |
606 |
2.34e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114205
|
| SMART Domains |
Protein: ENSMUSP00000109843
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
|
477 |
489 |
N/A |
INTRINSIC |
|
VHP
|
538 |
573 |
2.34e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114206
|
| SMART Domains |
Protein: ENSMUSP00000109844
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
|
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 |
noncoding transcript
Transcript: ENSMUST00000153025
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129347
|
| SMART Domains |
Protein: ENSMUSP00000123525
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 |
|
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 null
Transcript: ENSMUST00000153529
|
| SMART Domains |
Protein: ENSMUSP00000118019
Gene: ENSMUSG00000029095
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (70/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
C |
T |
17: 9,226,839 (GRCm39) |
R465* |
probably null |
Het |
| Abcg3 |
A |
T |
5: 105,114,649 (GRCm39) |
D289E |
probably damaging |
Het |
| Acp1 |
A |
T |
12: 30,955,078 (GRCm39) |
V36D |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,449,348 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
G |
A |
12: 52,933,329 (GRCm39) |
V274I |
probably damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,609,715 (GRCm39) |
|
probably benign |
Het |
| Bmp1 |
G |
A |
14: 70,717,605 (GRCm39) |
R789W |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,976,474 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
T |
A |
1: 139,749,520 (GRCm39) |
Y154F |
possibly damaging |
Het |
| Cilp2 |
T |
C |
8: 70,336,015 (GRCm39) |
Y358C |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,584,516 (GRCm39) |
K513* |
probably null |
Het |
| Dennd4a |
G |
T |
9: 64,796,210 (GRCm39) |
K745N |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,655,085 (GRCm39) |
S542T |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,696,465 (GRCm39) |
I893F |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,353,130 (GRCm39) |
E2761V |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,708,341 (GRCm39) |
T40A |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,520,936 (GRCm39) |
D296G |
possibly damaging |
Het |
| Fance |
C |
T |
17: 28,534,589 (GRCm39) |
|
probably benign |
Het |
| Gaa |
A |
G |
11: 119,167,669 (GRCm39) |
D149G |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,522 (GRCm39) |
M47T |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,813,774 (GRCm39) |
N202D |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 18,131,809 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
T |
A |
1: 59,601,859 (GRCm39) |
M491K |
probably benign |
Het |
| Gmnc |
A |
G |
16: 26,782,695 (GRCm39) |
V27A |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,440,915 (GRCm39) |
T1167A |
possibly damaging |
Het |
| Klrg1 |
T |
A |
6: 122,248,331 (GRCm39) |
*189C |
probably null |
Het |
| Lime1 |
T |
A |
2: 181,024,640 (GRCm39) |
M98K |
probably benign |
Het |
| Lrp1 |
C |
A |
10: 127,391,965 (GRCm39) |
A2867S |
probably benign |
Het |
| Lrrd1 |
G |
A |
5: 3,908,735 (GRCm39) |
S669N |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,976,456 (GRCm39) |
N520S |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,198,535 (GRCm39) |
L206V |
probably damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,596 (GRCm39) |
A52T |
probably benign |
Het |
| Or1o3 |
A |
G |
17: 37,573,919 (GRCm39) |
V212A |
probably benign |
Het |
| Or4c3 |
T |
G |
2: 89,851,528 (GRCm39) |
D294A |
probably benign |
Het |
| Orai2 |
A |
G |
5: 136,190,355 (GRCm39) |
S71P |
probably damaging |
Het |
| Pcbp1 |
A |
T |
6: 86,502,209 (GRCm39) |
I230N |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,138,986 (GRCm39) |
L349P |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,613,011 (GRCm39) |
V657A |
probably benign |
Het |
| Prdm15 |
G |
T |
16: 97,609,875 (GRCm39) |
H590N |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,079,874 (GRCm39) |
I442M |
probably damaging |
Het |
| Pygm |
C |
A |
19: 6,439,494 (GRCm39) |
D279E |
probably benign |
Het |
| Rrn3 |
T |
A |
16: 13,610,798 (GRCm39) |
|
probably null |
Het |
| Sass6 |
T |
C |
3: 116,407,702 (GRCm39) |
S273P |
possibly damaging |
Het |
| Schip1 |
A |
G |
3: 68,402,270 (GRCm39) |
M116V |
probably benign |
Het |
| Sdc3 |
G |
A |
4: 130,546,087 (GRCm39) |
V55I |
unknown |
Het |
| Serpinb8 |
T |
A |
1: 107,525,201 (GRCm39) |
M1K |
probably null |
Het |
| Slc24a5 |
T |
C |
2: 124,927,739 (GRCm39) |
I346T |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,117,846 (GRCm39) |
I335N |
probably damaging |
Het |
| Snapc2 |
T |
A |
8: 4,305,299 (GRCm39) |
V147E |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,784 (GRCm39) |
S56P |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,040,400 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,911,702 (GRCm39) |
E692G |
probably benign |
Het |
| Tet1 |
C |
T |
10: 62,674,450 (GRCm39) |
V1209I |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,539,406 (GRCm39) |
T1639A |
probably benign |
Het |
| Tmem135 |
G |
T |
7: 88,845,335 (GRCm39) |
Y165* |
probably null |
Het |
| Tmprss6 |
T |
C |
15: 78,336,707 (GRCm39) |
T398A |
probably damaging |
Het |
| Ube4a |
C |
T |
9: 44,851,258 (GRCm39) |
|
probably null |
Het |
| Vmn1r227 |
T |
C |
17: 20,955,499 (GRCm39) |
|
noncoding transcript |
Het |
| Wdhd1 |
T |
C |
14: 47,488,273 (GRCm39) |
S745G |
probably benign |
Het |
| Xylt1 |
A |
G |
7: 117,191,263 (GRCm39) |
H353R |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,980 (GRCm39) |
T539A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,091 (GRCm39) |
F510I |
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 |
|
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'- AGCAAGGCAGGCAGATTATC -3'
(R):5'- CAGAGTATAGCTGGTTGTGGCC -3'
Sequencing Primer
(F):5'- CAGGCAGATTATCTTTAGGGACCTC -3'
(R):5'- GCCTGGTAATTTTTGACATGGAAAAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation