Incidental Mutation 'IGL00954:Ablim3'
| ID |
29433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ablim3
|
| Ensembl Gene |
ENSMUSG00000032735 |
| Gene Name |
actin binding LIM protein family, member 3 |
| Synonyms |
D930036B08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 61972756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049378]
[ENSMUST00000166783]
|
| AlphaFold |
Q69ZX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049378
|
| SMART Domains |
Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
4.19e-8 |
SMART |
|
LIM
|
81 |
133 |
2.31e-10 |
SMART |
|
LIM
|
150 |
201 |
2.4e-17 |
SMART |
|
LIM
|
209 |
261 |
1.12e-8 |
SMART |
|
Pfam:AbLIM_anchor
|
273 |
646 |
6.5e-154 |
PFAM |
|
VHP
|
647 |
682 |
1.66e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166783
|
| SMART Domains |
Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
4.19e-8 |
SMART |
|
LIM
|
81 |
133 |
2.31e-10 |
SMART |
|
LIM
|
150 |
201 |
2.4e-17 |
SMART |
|
LIM
|
209 |
261 |
1.12e-8 |
SMART |
|
Pfam:AbLIM_anchor
|
273 |
646 |
6.5e-154 |
PFAM |
|
VHP
|
647 |
682 |
1.66e-19 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
| Other mutations in Ablim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Ablim3
|
APN |
18 |
61,982,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01012:Ablim3
|
APN |
18 |
61,972,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01402:Ablim3
|
APN |
18 |
62,004,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01404:Ablim3
|
APN |
18 |
62,004,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01609:Ablim3
|
APN |
18 |
61,955,092 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01710:Ablim3
|
APN |
18 |
62,004,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01775:Ablim3
|
APN |
18 |
61,949,989 (GRCm39) |
splice site |
probably benign |
|
|
IGL02967:Ablim3
|
APN |
18 |
61,959,574 (GRCm39) |
nonsense |
probably null |
|
|
IGL03409:Ablim3
|
APN |
18 |
61,978,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Ablim3
|
UTSW |
18 |
61,988,288 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0601:Ablim3
|
UTSW |
18 |
61,982,441 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1067:Ablim3
|
UTSW |
18 |
61,957,018 (GRCm39) |
splice site |
probably benign |
|
|
R1642:Ablim3
|
UTSW |
18 |
61,947,382 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1851:Ablim3
|
UTSW |
18 |
61,982,466 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1852:Ablim3
|
UTSW |
18 |
61,982,466 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2072:Ablim3
|
UTSW |
18 |
61,990,159 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2763:Ablim3
|
UTSW |
18 |
61,946,615 (GRCm39) |
nonsense |
probably null |
|
|
R4865:Ablim3
|
UTSW |
18 |
61,938,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Ablim3
|
UTSW |
18 |
61,952,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5353:Ablim3
|
UTSW |
18 |
61,934,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Ablim3
|
UTSW |
18 |
61,990,296 (GRCm39) |
splice site |
probably null |
|
|
R5835:Ablim3
|
UTSW |
18 |
61,956,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Ablim3
|
UTSW |
18 |
61,957,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7231:Ablim3
|
UTSW |
18 |
61,938,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7386:Ablim3
|
UTSW |
18 |
61,955,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Ablim3
|
UTSW |
18 |
61,955,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7529:Ablim3
|
UTSW |
18 |
61,955,039 (GRCm39) |
missense |
probably benign |
|
|
R8979:Ablim3
|
UTSW |
18 |
61,982,397 (GRCm39) |
missense |
probably benign |
|
|
R9037:Ablim3
|
UTSW |
18 |
61,952,066 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9095:Ablim3
|
UTSW |
18 |
61,953,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9250:Ablim3
|
UTSW |
18 |
61,944,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Ablim3
|
UTSW |
18 |
61,972,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Ablim3
|
UTSW |
18 |
61,952,067 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9457:Ablim3
|
UTSW |
18 |
61,978,920 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9591:Ablim3
|
UTSW |
18 |
61,954,984 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9761:Ablim3
|
UTSW |
18 |
61,952,885 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0028:Ablim3
|
UTSW |
18 |
61,938,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation