Incidental Mutation 'R7562:Ablim2'
ID |
585181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ablim2
|
Ensembl Gene |
ENSMUSG00000029095 |
Gene Name |
actin-binding LIM protein 2 |
Synonyms |
|
MMRRC Submission |
045627-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R7562 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 36030563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 544
(T544M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114203]
[ENSMUST00000114204]
[ENSMUST00000114205]
[ENSMUST00000114206]
[ENSMUST00000114210]
[ENSMUST00000129347]
|
AlphaFold |
Q8BL65 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054598
AA Change: T544M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000050571 Gene: ENSMUSG00000029095 AA Change: T544M
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: ENSMUST00000114203
AA Change: T278M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000109841 Gene: ENSMUSG00000029095 AA Change: T278M
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 |
silent
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
AA Change: T596M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123525 Gene: ENSMUSG00000029095 AA Change: T596M
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: 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 |
|
Predicted Effect |
probably benign
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,270,697 (GRCm39) |
R651G |
probably benign |
Het |
Adck1 |
G |
A |
12: 88,335,203 (GRCm39) |
D30N |
possibly damaging |
Het |
Alcam |
T |
A |
16: 52,089,186 (GRCm39) |
I505F |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,597,394 (GRCm39) |
L740P |
probably damaging |
Het |
Ankib1 |
C |
T |
5: 3,797,021 (GRCm39) |
D264N |
probably null |
Het |
Arid2 |
T |
G |
15: 96,299,849 (GRCm39) |
H1787Q |
probably damaging |
Het |
Asf1a |
C |
T |
10: 53,482,283 (GRCm39) |
R102* |
probably null |
Het |
Atp2b1 |
C |
A |
10: 98,858,667 (GRCm39) |
|
probably null |
Het |
Bdp1 |
T |
C |
13: 100,162,049 (GRCm39) |
D2291G |
probably benign |
Het |
Bnip5 |
T |
C |
17: 29,128,778 (GRCm39) |
D45G |
probably benign |
Het |
Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
Catsperg2 |
A |
G |
7: 29,397,144 (GRCm39) |
F1120L |
probably benign |
Het |
Ccdc80 |
C |
T |
16: 44,943,266 (GRCm39) |
A792V |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,904,426 (GRCm39) |
D2381E |
unknown |
Het |
Cenpe |
C |
T |
3: 134,954,395 (GRCm39) |
R1751W |
probably damaging |
Het |
Cenpm |
T |
C |
15: 82,125,562 (GRCm39) |
I66V |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,298,081 (GRCm39) |
W103R |
possibly damaging |
Het |
Cntn2 |
T |
C |
1: 132,454,055 (GRCm39) |
D317G |
possibly damaging |
Het |
Cwf19l1 |
G |
A |
19: 44,117,680 (GRCm39) |
T154M |
probably damaging |
Het |
Cyp2a4 |
T |
A |
7: 26,012,321 (GRCm39) |
M368K |
possibly damaging |
Het |
Dars1 |
A |
G |
1: 128,294,763 (GRCm39) |
S413P |
possibly damaging |
Het |
Dscc1 |
A |
G |
15: 54,947,581 (GRCm39) |
Y200H |
probably benign |
Het |
Dsn1 |
A |
T |
2: 156,842,792 (GRCm39) |
D183E |
probably damaging |
Het |
Etfdh |
T |
C |
3: 79,530,886 (GRCm39) |
Y45C |
probably damaging |
Het |
Fancc |
A |
T |
13: 63,550,867 (GRCm39) |
|
probably null |
Het |
Fbxo34 |
T |
A |
14: 47,767,135 (GRCm39) |
M216K |
probably benign |
Het |
Fer1l6 |
T |
G |
15: 58,432,331 (GRCm39) |
S293A |
probably benign |
Het |
Foxn1 |
T |
A |
11: 78,261,958 (GRCm39) |
E137V |
probably damaging |
Het |
Fshr |
A |
C |
17: 89,295,925 (GRCm39) |
F261V |
probably damaging |
Het |
Gabrb3 |
C |
T |
7: 57,461,926 (GRCm39) |
R153* |
probably null |
Het |
Garin1b |
T |
C |
6: 29,323,833 (GRCm39) |
V186A |
probably damaging |
Het |
Gps2 |
C |
A |
11: 69,807,308 (GRCm39) |
N321K |
probably benign |
Het |
Hdgf |
T |
C |
3: 87,813,993 (GRCm39) |
M20T |
possibly damaging |
Het |
Igdcc4 |
G |
T |
9: 65,031,306 (GRCm39) |
A415S |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,742,541 (GRCm39) |
E879G |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,010,162 (GRCm39) |
Y273C |
probably damaging |
Het |
Mab21l4 |
C |
A |
1: 93,087,689 (GRCm39) |
V55F |
probably damaging |
Het |
Mag |
A |
G |
7: 30,608,559 (GRCm39) |
V185A |
possibly damaging |
Het |
Map3k21 |
C |
T |
8: 126,665,539 (GRCm39) |
T576M |
probably damaging |
Het |
Mtcl2 |
A |
C |
2: 156,895,509 (GRCm39) |
L332R |
probably damaging |
Het |
Mtrr |
A |
G |
13: 68,714,336 (GRCm39) |
F468L |
probably damaging |
Het |
Myb |
C |
T |
10: 21,017,653 (GRCm39) |
|
probably null |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nckap5l |
A |
T |
15: 99,321,166 (GRCm39) |
|
probably null |
Het |
Nop9 |
C |
T |
14: 55,986,809 (GRCm39) |
R240W |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,020,430 (GRCm39) |
L775P |
probably damaging |
Het |
Or13a27 |
T |
C |
7: 139,925,143 (GRCm39) |
Y253C |
probably damaging |
Het |
Or4c116 |
C |
T |
2: 88,942,629 (GRCm39) |
V76I |
probably benign |
Het |
Or55b10 |
T |
A |
7: 102,143,227 (GRCm39) |
I252F |
possibly damaging |
Het |
Or7a40 |
T |
C |
16: 16,491,579 (GRCm39) |
N89D |
probably benign |
Het |
Or8c9 |
A |
G |
9: 38,241,239 (GRCm39) |
T116A |
probably damaging |
Het |
Oxa1l |
T |
A |
14: 54,600,934 (GRCm39) |
W136R |
probably damaging |
Het |
Palm3 |
T |
A |
8: 84,748,136 (GRCm39) |
V7E |
possibly damaging |
Het |
Pkhd1l1 |
C |
G |
15: 44,378,326 (GRCm39) |
R1027G |
possibly damaging |
Het |
Prickle2 |
A |
T |
6: 92,352,929 (GRCm39) |
*902K |
probably null |
Het |
Rassf7 |
C |
T |
7: 140,797,101 (GRCm39) |
R105* |
probably null |
Het |
Septin9 |
T |
C |
11: 117,217,337 (GRCm39) |
|
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,444,976 (GRCm39) |
N34S |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,682,412 (GRCm39) |
T269A |
probably benign |
Het |
Spata20 |
T |
G |
11: 94,373,379 (GRCm39) |
K497N |
probably benign |
Het |
Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
Tenm4 |
A |
G |
7: 96,538,021 (GRCm39) |
T1865A |
probably damaging |
Het |
Tmc5 |
A |
T |
7: 118,222,549 (GRCm39) |
Y83F |
probably benign |
Het |
Tmem175 |
T |
A |
5: 108,789,715 (GRCm39) |
D103E |
probably damaging |
Het |
Top2b |
A |
C |
14: 16,412,946 (GRCm38) |
M952L |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,941 (GRCm39) |
I298V |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,056,420 (GRCm39) |
I573V |
probably benign |
Het |
Vmn2r93 |
A |
G |
17: 18,518,731 (GRCm39) |
I63M |
probably benign |
Het |
Zfp568 |
G |
A |
7: 29,722,681 (GRCm39) |
R542H |
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 |
|
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 |
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'- GCAGGTTCCCGGATATTCAC -3'
(R):5'- GTACTCCAAGAGATGCACAGC -3'
Sequencing Primer
(F):5'- CCAATGTTCAACGTTAGGTGAC -3'
(R):5'- CCCCTGCAGCATAGGATG -3'
|
Posted On |
2019-10-17 |