Incidental Mutation 'R4927:Ablim2'
ID |
380899 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ablim2
|
Ensembl Gene |
ENSMUSG00000029095 |
Gene Name |
actin-binding LIM protein 2 |
Synonyms |
|
MMRRC Submission |
042528-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R4927 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35959766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 73
(R73C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114204]
[ENSMUST00000114205]
[ENSMUST00000114206]
[ENSMUST00000114210]
[ENSMUST00000129347]
|
AlphaFold |
Q8BL65 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054598
AA Change: R73C
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000050571 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
possibly damaging
Transcript: ENSMUST00000101280
AA Change: R73C
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000098838 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
possibly damaging
Transcript: ENSMUST00000114204
AA Change: R73C
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109842 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
possibly damaging
Transcript: ENSMUST00000114205
AA Change: R73C
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109843 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
possibly damaging
Transcript: ENSMUST00000114206
AA Change: R73C
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109844 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
possibly damaging
Transcript: ENSMUST00000114210
AA Change: R73C
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109848 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
possibly damaging
Transcript: ENSMUST00000129347
AA Change: R73C
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000123525 Gene: ENSMUSG00000029095 AA Change: R73C
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 |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
T |
A |
11: 50,694,639 (GRCm39) |
L1142* |
probably null |
Het |
Arl13b |
C |
A |
16: 62,622,150 (GRCm39) |
G381V |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,892,641 (GRCm39) |
V1507F |
probably damaging |
Het |
Babam2 |
T |
A |
5: 31,859,408 (GRCm39) |
F38I |
probably benign |
Het |
Bend4 |
T |
C |
5: 67,557,619 (GRCm39) |
Y399C |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,644,794 (GRCm39) |
|
probably null |
Het |
Cacna1g |
A |
T |
11: 94,319,973 (GRCm39) |
L1401Q |
probably damaging |
Het |
Ccdc192 |
C |
T |
18: 57,863,888 (GRCm39) |
Q213* |
probably null |
Het |
Cep192 |
T |
C |
18: 67,968,195 (GRCm39) |
V893A |
probably benign |
Het |
Cnot10 |
A |
T |
9: 114,447,012 (GRCm39) |
Y355N |
probably damaging |
Het |
Col6a5 |
G |
C |
9: 105,811,163 (GRCm39) |
S785R |
unknown |
Het |
Cpa3 |
A |
G |
3: 20,276,303 (GRCm39) |
L310P |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,015,152 (GRCm39) |
I247T |
probably benign |
Het |
Dab1 |
A |
G |
4: 104,561,449 (GRCm39) |
T245A |
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,579,985 (GRCm39) |
D315V |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,583,762 (GRCm39) |
L599* |
probably null |
Het |
Dync1h1 |
T |
C |
12: 110,629,289 (GRCm39) |
I4231T |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,476,000 (GRCm39) |
V1659A |
probably damaging |
Het |
Flot2 |
G |
A |
11: 77,949,888 (GRCm39) |
V406M |
probably damaging |
Het |
Galnt2 |
A |
G |
8: 125,032,362 (GRCm39) |
D75G |
probably damaging |
Het |
Gcnt3 |
A |
T |
9: 69,942,464 (GRCm39) |
C35S |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,052,118 (GRCm39) |
F199L |
probably benign |
Het |
Gramd2b |
C |
T |
18: 56,618,523 (GRCm39) |
P244S |
probably damaging |
Het |
Hhipl1 |
T |
C |
12: 108,278,203 (GRCm39) |
L177P |
probably damaging |
Het |
Homez |
T |
C |
14: 55,095,264 (GRCm39) |
E148G |
possibly damaging |
Het |
Kcnab3 |
G |
A |
11: 69,217,572 (GRCm39) |
C22Y |
possibly damaging |
Het |
Kcnh8 |
C |
A |
17: 53,185,009 (GRCm39) |
S430R |
probably damaging |
Het |
Kcnn2 |
T |
C |
18: 45,692,798 (GRCm39) |
C125R |
probably benign |
Het |
Klhl7 |
G |
A |
5: 24,346,185 (GRCm39) |
R277Q |
possibly damaging |
Het |
Krt78 |
A |
G |
15: 101,855,334 (GRCm39) |
S826P |
probably benign |
Het |
Krtap14 |
T |
C |
16: 88,622,919 (GRCm39) |
Y20C |
possibly damaging |
Het |
Lrcol1 |
A |
G |
5: 110,502,163 (GRCm39) |
|
probably null |
Het |
Lrrc10b |
G |
A |
19: 10,434,226 (GRCm39) |
P152S |
probably damaging |
Het |
Lrrn3 |
C |
G |
12: 41,503,124 (GRCm39) |
D398H |
probably damaging |
Het |
Map3k19 |
T |
C |
1: 127,749,932 (GRCm39) |
I1140V |
probably benign |
Het |
Mos |
G |
A |
4: 3,871,093 (GRCm39) |
T241M |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,807,901 (GRCm39) |
E39G |
possibly damaging |
Het |
Olfm1 |
T |
G |
2: 28,104,798 (GRCm39) |
S212A |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,592,633 (GRCm39) |
F35L |
probably damaging |
Het |
Pip4p2 |
G |
T |
4: 14,912,458 (GRCm39) |
R189L |
probably damaging |
Het |
Plec |
G |
T |
15: 76,061,162 (GRCm39) |
T2947K |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,578,187 (GRCm39) |
Q149L |
probably damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,823,350 (GRCm39) |
M474V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,719,408 (GRCm39) |
Y4333C |
unknown |
Het |
Scrn2 |
G |
C |
11: 96,924,326 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
C |
A |
19: 6,587,791 (GRCm39) |
V388L |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,526,866 (GRCm39) |
V754A |
probably damaging |
Het |
Slco2b1 |
A |
G |
7: 99,335,195 (GRCm39) |
F195S |
probably damaging |
Het |
Slfn9 |
A |
C |
11: 82,872,216 (GRCm39) |
M840R |
possibly damaging |
Het |
Speer4b |
T |
C |
5: 27,706,263 (GRCm39) |
N35D |
probably damaging |
Het |
Taf1d |
T |
A |
9: 15,221,250 (GRCm39) |
D185E |
probably damaging |
Het |
Taok2 |
A |
G |
7: 126,475,213 (GRCm39) |
L245P |
probably damaging |
Het |
Tent4a |
A |
T |
13: 69,651,019 (GRCm39) |
|
probably null |
Het |
Ticam2 |
T |
C |
18: 46,693,846 (GRCm39) |
I80M |
probably damaging |
Het |
Tmem268 |
G |
A |
4: 63,502,164 (GRCm39) |
V331I |
probably benign |
Het |
Tsga10 |
T |
C |
1: 37,840,931 (GRCm39) |
E425G |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,654,133 (GRCm39) |
|
probably null |
Het |
Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
Unc13a |
T |
C |
8: 72,107,489 (GRCm39) |
H601R |
probably damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,880,661 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r120 |
G |
T |
17: 57,816,125 (GRCm39) |
N743K |
probably damaging |
Het |
Wnt6 |
C |
A |
1: 74,823,295 (GRCm39) |
|
probably null |
Het |
Wnt6 |
A |
C |
1: 74,823,296 (GRCm39) |
|
probably null |
Het |
Wnt8a |
T |
A |
18: 34,680,525 (GRCm39) |
C297S |
probably damaging |
Het |
Zfp786 |
T |
C |
6: 47,797,087 (GRCm39) |
Q617R |
probably benign |
Het |
Zfp91 |
A |
G |
19: 12,753,774 (GRCm39) |
|
probably null |
Het |
Zw10 |
T |
A |
9: 48,979,983 (GRCm39) |
F371L |
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 |
|
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 |
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'- GCCCCATTCCAGGTCTACTTAG -3'
(R):5'- TGCTAGGAGCCAAAAGATAGCC -3'
Sequencing Primer
(F):5'- CCAGGTCTACTTAGCCATTTGG -3'
(R):5'- CCAGGGCTGGGGATAGATGTG -3'
|
Posted On |
2016-04-15 |