Incidental Mutation 'R5528:Ablim2'
ID |
433521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ablim2
|
Ensembl Gene |
ENSMUSG00000029095 |
Gene Name |
actin-binding LIM protein 2 |
Synonyms |
|
MMRRC Submission |
043086-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R5528 (G1)
|
Quality Score |
214 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
35915224-36042317 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 36013510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 148
(Q148*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054598]
[ENSMUST00000101280]
[ENSMUST00000114203]
[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: 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 |
probably null
Transcript: ENSMUST00000151322
AA Change: Q148*
|
SMART Domains |
Protein: ENSMUSP00000114616 Gene: ENSMUSG00000029095 AA Change: Q148*
Domain | Start | End | E-Value | Type |
Pfam:AbLIM_anchor
|
12 |
164 |
4.3e-55 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153025
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130209
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125378
|
SMART Domains |
Protein: ENSMUSP00000115931 Gene: ENSMUSG00000029095
Domain | Start | End | E-Value | Type |
Pfam:AbLIM_anchor
|
1 |
115 |
6.3e-29 |
PFAM |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
|
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: 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 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: 98.6%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,772,260 (GRCm39) |
L483P |
probably benign |
Het |
4930519G04Rik |
T |
G |
5: 115,012,415 (GRCm39) |
|
probably null |
Het |
Ap3s2 |
A |
T |
7: 79,530,234 (GRCm39) |
*194R |
probably null |
Het |
Arpp21 |
C |
T |
9: 111,978,421 (GRCm39) |
A235T |
probably benign |
Het |
C9orf72 |
T |
C |
4: 35,213,556 (GRCm39) |
D198G |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,936,078 (GRCm39) |
D939G |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,320,610 (GRCm39) |
I734N |
probably damaging |
Het |
Clcn1 |
C |
A |
6: 42,277,275 (GRCm39) |
N455K |
probably benign |
Het |
Cpne8 |
C |
T |
15: 90,503,893 (GRCm39) |
V91I |
possibly damaging |
Het |
Cstdc7 |
A |
G |
18: 42,306,727 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,279,295 (GRCm39) |
V448A |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Eeig1 |
G |
A |
2: 32,456,339 (GRCm39) |
A334T |
probably damaging |
Het |
Eif2a |
G |
T |
3: 58,455,933 (GRCm39) |
D311Y |
probably damaging |
Het |
Eif2ak4 |
G |
A |
2: 118,258,419 (GRCm39) |
E512K |
probably damaging |
Het |
Esp15 |
A |
T |
17: 39,955,640 (GRCm39) |
Y69F |
probably benign |
Het |
Gucy1a1 |
A |
T |
3: 82,016,380 (GRCm39) |
Y203N |
probably damaging |
Het |
Hook3 |
T |
C |
8: 26,562,321 (GRCm39) |
Q248R |
probably damaging |
Het |
Ifit2 |
T |
A |
19: 34,550,937 (GRCm39) |
V159E |
possibly damaging |
Het |
Il17rd |
T |
C |
14: 26,810,024 (GRCm39) |
V20A |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,897,027 (GRCm39) |
D291V |
probably damaging |
Het |
Klf11 |
A |
T |
12: 24,704,929 (GRCm39) |
M111L |
probably benign |
Het |
Lama5 |
T |
A |
2: 179,836,356 (GRCm39) |
H1165L |
probably benign |
Het |
Lmo7 |
A |
G |
14: 102,139,522 (GRCm39) |
N702S |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,307,736 (GRCm39) |
V323A |
probably damaging |
Het |
Mkrn3 |
T |
C |
7: 62,068,735 (GRCm39) |
E352G |
possibly damaging |
Het |
Ms4a19 |
T |
C |
19: 11,118,999 (GRCm39) |
S37G |
possibly damaging |
Het |
Mtf2 |
T |
A |
5: 108,242,023 (GRCm39) |
L277Q |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,775,918 (GRCm39) |
N370D |
probably benign |
Het |
Nlrp4e |
A |
C |
7: 23,036,316 (GRCm39) |
K723T |
probably benign |
Het |
Nsun3 |
A |
G |
16: 62,555,689 (GRCm39) |
V279A |
possibly damaging |
Het |
Pde6b |
A |
G |
5: 108,571,424 (GRCm39) |
D459G |
probably benign |
Het |
Phgdh |
T |
C |
3: 98,235,655 (GRCm39) |
I121V |
probably benign |
Het |
Pik3r5 |
T |
C |
11: 68,386,803 (GRCm39) |
C811R |
probably damaging |
Het |
Spaca6 |
A |
C |
17: 18,051,344 (GRCm39) |
I27L |
probably benign |
Het |
Trmt1l |
G |
A |
1: 151,330,746 (GRCm39) |
V588I |
probably benign |
Het |
Tshr |
A |
G |
12: 91,503,967 (GRCm39) |
N302D |
probably damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,689,961 (GRCm39) |
D279G |
probably damaging |
Het |
Wnt3a |
T |
C |
11: 59,166,106 (GRCm39) |
N58S |
probably damaging |
Het |
Zkscan8 |
A |
G |
13: 21,704,895 (GRCm39) |
V276A |
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 |
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 |
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'- GCAGAGGGTTTATTTCCAACTG -3'
(R):5'- TCAGGACTCAGACAGTGCAG -3'
Sequencing Primer
(F):5'- CAGAGGGTTTATTTCCAACTGAAAAC -3'
(R):5'- CTCAGACAGTGCAGGGAGAC -3'
|
Posted On |
2016-10-06 |