Incidental Mutation 'R0130:Ablim2'
| ID |
50109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ablim2
|
| Ensembl Gene |
ENSMUSG00000029095 |
| Gene Name |
actin-binding LIM protein 2 |
| Synonyms |
|
| MMRRC Submission |
038415-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R0130 (G1)
|
| Quality Score |
71 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 35966520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114204]
[ENSMUST00000114205]
[ENSMUST00000114206]
[ENSMUST00000114210]
[ENSMUST00000129347]
|
| AlphaFold |
Q8BL65 |
| Predicted Effect |
probably benign
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 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 |
probably benign
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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.7%
- 10x: 93.4%
- 20x: 80.2%
|
| Validation Efficiency |
99% (84/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
T |
17: 84,994,094 (GRCm39) |
Y37F |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,209,733 (GRCm39) |
S129P |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,410,562 (GRCm39) |
I128T |
possibly damaging |
Het |
| Arfgef2 |
T |
G |
2: 166,677,639 (GRCm39) |
I88S |
probably damaging |
Het |
| Arfip2 |
A |
G |
7: 105,288,205 (GRCm39) |
|
probably benign |
Het |
| Atp5mf |
A |
T |
5: 145,124,992 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,188 (GRCm39) |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 (GRCm39) |
|
probably null |
Het |
| Cd22 |
A |
G |
7: 30,569,389 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,119,990 (GRCm39) |
T613A |
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 106,963,904 (GRCm39) |
|
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,194,405 (GRCm39) |
D120E |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,250,656 (GRCm39) |
H691L |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,121,038 (GRCm39) |
Y373N |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,539 (GRCm39) |
V328D |
probably damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,922,059 (GRCm39) |
E895V |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,706 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,371,655 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,585,108 (GRCm39) |
T837K |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,858,716 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
A |
C |
1: 119,477,632 (GRCm39) |
V705G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,142,944 (GRCm39) |
M4302L |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,608,903 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,387,978 (GRCm39) |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,109,311 (GRCm39) |
T443A |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,294,283 (GRCm39) |
F63L |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,956,202 (GRCm39) |
S28P |
probably benign |
Het |
| Gm10250 |
G |
A |
15: 5,150,473 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,664,310 (GRCm39) |
V553A |
probably damaging |
Het |
| Lman2l |
G |
T |
1: 36,463,945 (GRCm39) |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,401,520 (GRCm39) |
D378G |
probably damaging |
Het |
| Map3k11 |
T |
C |
19: 5,740,843 (GRCm39) |
L190P |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,298,188 (GRCm39) |
Q2282L |
probably damaging |
Het |
| Mthfd2 |
T |
A |
6: 83,285,990 (GRCm39) |
I272F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,352,750 (GRCm39) |
D358V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,395,737 (GRCm39) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,397,834 (GRCm39) |
Q487H |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,325,417 (GRCm39) |
N14Y |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,035,514 (GRCm39) |
Y118C |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,312,299 (GRCm39) |
D296E |
probably benign |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,305 (GRCm39) |
S191C |
probably damaging |
Het |
| Or8k40 |
T |
C |
2: 86,584,231 (GRCm39) |
M284V |
probably benign |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Paxip1 |
C |
T |
5: 27,949,183 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,811 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,445,174 (GRCm39) |
N591K |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,769,939 (GRCm39) |
M276T |
probably damaging |
Het |
| Prss39 |
T |
A |
1: 34,541,281 (GRCm39) |
|
probably benign |
Het |
| Prtg |
A |
G |
9: 72,716,998 (GRCm39) |
Y113C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,749 (GRCm39) |
I88N |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 76,976,057 (GRCm39) |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,550,683 (GRCm39) |
W9R |
probably damaging |
Het |
| Sec14l1 |
A |
T |
11: 117,047,233 (GRCm39) |
K637I |
possibly damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,070,620 (GRCm39) |
D360E |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,036 (GRCm39) |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,784,057 (GRCm39) |
I104F |
probably damaging |
Het |
| Smcp |
T |
A |
3: 92,491,827 (GRCm39) |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,264,551 (GRCm39) |
|
probably benign |
Het |
| Tectb |
G |
T |
19: 55,170,393 (GRCm39) |
K81N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,890,918 (GRCm39) |
H850N |
probably benign |
Het |
| Tiam1 |
T |
C |
16: 89,694,642 (GRCm39) |
M272V |
probably benign |
Het |
| Trav13-3 |
T |
A |
14: 53,967,233 (GRCm39) |
|
noncoding transcript |
Het |
| Ubap2l |
A |
T |
3: 89,928,680 (GRCm39) |
S478T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,255,054 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCTACACAAATGCTCCCTTCAAC -3'
(R):5'- CACTTCAGCAGGACTACTGGGAAAG -3'
Sequencing Primer
(F):5'- TTCAACTGCCAGACAGGGTC -3'
(R):5'- TAGTCATTGCGCCAGGAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation