Incidental Mutation 'IGL01775:Ablim3'
| ID |
154105 |
| 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 # |
IGL01775
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 61949989 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
T |
11: 84,361,963 (GRCm39) |
L333Q |
probably damaging |
Het |
| Acsl6 |
T |
C |
11: 54,236,826 (GRCm39) |
|
probably benign |
Het |
| Adra1b |
T |
A |
11: 43,726,128 (GRCm39) |
D263V |
probably damaging |
Het |
| Aicda |
G |
A |
6: 122,538,012 (GRCm39) |
V57M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,092,638 (GRCm39) |
W494R |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,017 (GRCm39) |
S165G |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,046,411 (GRCm39) |
|
probably benign |
Het |
| Dph6 |
A |
T |
2: 114,348,776 (GRCm39) |
|
probably benign |
Het |
| Emc3 |
A |
G |
6: 113,508,296 (GRCm39) |
S50P |
possibly damaging |
Het |
| Fbxo45 |
A |
C |
16: 32,052,093 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,642,125 (GRCm39) |
T599S |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,041,159 (GRCm39) |
I535V |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,207,995 (GRCm39) |
I215T |
possibly damaging |
Het |
| Ighm |
A |
T |
12: 113,386,087 (GRCm39) |
C88S |
unknown |
Het |
| Itih2 |
A |
C |
2: 10,134,097 (GRCm39) |
D38E |
probably benign |
Het |
| Lat |
C |
A |
7: 125,967,261 (GRCm39) |
V113L |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,981,269 (GRCm39) |
F480L |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Msh2 |
A |
T |
17: 87,990,074 (GRCm39) |
N254I |
possibly damaging |
Het |
| Naglu |
T |
C |
11: 100,964,921 (GRCm39) |
M336T |
probably damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,222 (GRCm39) |
R483C |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,396,791 (GRCm39) |
E899K |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,471,593 (GRCm39) |
Y181H |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,499 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or5m5 |
T |
C |
2: 85,815,014 (GRCm39) |
S277P |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,496,001 (GRCm39) |
Q56L |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,763 (GRCm39) |
L66F |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,501 (GRCm39) |
R91H |
probably benign |
Het |
| Plag1 |
T |
C |
4: 3,904,513 (GRCm39) |
D226G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,393 (GRCm39) |
F96I |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,865,112 (GRCm39) |
N399S |
probably benign |
Het |
| Prkd3 |
G |
T |
17: 79,320,189 (GRCm39) |
T51K |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 137,992,497 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,460 (GRCm39) |
S254T |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,584,300 (GRCm39) |
R528Q |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,799 (GRCm39) |
L94Q |
probably benign |
Het |
| Rps8 |
C |
A |
4: 117,012,249 (GRCm39) |
R56L |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,956,250 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,259,758 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,911,574 (GRCm39) |
E396D |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,890 (GRCm39) |
V135A |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,676 (GRCm39) |
D421G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,640,215 (GRCm39) |
D1374G |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,586 (GRCm39) |
D232Y |
probably damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,926 (GRCm39) |
T145A |
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 |
|
IGL00954:Ablim3
|
APN |
18 |
61,972,756 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation