Incidental Mutation 'IGL03409:Ablim3'
ID |
421693 |
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 # |
IGL03409
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 61978922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 203
(H203L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049378]
[ENSMUST00000166783]
|
AlphaFold |
Q69ZX8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049378
AA Change: H203L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041243 Gene: ENSMUSG00000032735 AA Change: H203L
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 damaging
Transcript: ENSMUST00000166783
AA Change: H203L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125836 Gene: ENSMUSG00000032735 AA Change: H203L
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
A |
T |
8: 124,691,762 (GRCm39) |
M401K |
possibly damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Aox1 |
T |
G |
1: 58,393,588 (GRCm39) |
D1249E |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,353,423 (GRCm39) |
I1116V |
possibly damaging |
Het |
Atad3a |
T |
C |
4: 155,831,807 (GRCm39) |
D489G |
probably damaging |
Het |
Caln1 |
G |
T |
5: 130,646,719 (GRCm39) |
G52C |
probably damaging |
Het |
Clcn7 |
A |
G |
17: 25,374,359 (GRCm39) |
T467A |
probably damaging |
Het |
Col17a1 |
A |
T |
19: 47,654,979 (GRCm39) |
I599N |
possibly damaging |
Het |
Cul2 |
T |
A |
18: 3,429,593 (GRCm39) |
H547Q |
probably damaging |
Het |
Cxcl14 |
T |
C |
13: 56,440,320 (GRCm39) |
T80A |
probably damaging |
Het |
Dscaml1 |
T |
A |
9: 45,581,401 (GRCm39) |
Y407N |
probably damaging |
Het |
Edc4 |
T |
A |
8: 106,611,748 (GRCm39) |
I108N |
probably damaging |
Het |
Exoc2 |
T |
C |
13: 31,124,720 (GRCm39) |
|
probably benign |
Het |
Gm1110 |
T |
G |
9: 26,807,916 (GRCm39) |
H290P |
probably benign |
Het |
Gm16223 |
T |
A |
5: 42,225,336 (GRCm39) |
W12R |
unknown |
Het |
Herc2 |
C |
A |
7: 55,878,317 (GRCm39) |
H4623Q |
probably damaging |
Het |
Igkv18-36 |
A |
T |
6: 69,969,589 (GRCm39) |
H68Q |
possibly damaging |
Het |
Kif7 |
T |
C |
7: 79,357,301 (GRCm39) |
E635G |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,388 (GRCm39) |
K226E |
probably benign |
Het |
Or4c109 |
A |
T |
2: 88,817,931 (GRCm39) |
I205N |
possibly damaging |
Het |
Or52z13 |
T |
A |
7: 103,246,574 (GRCm39) |
M17K |
possibly damaging |
Het |
Or9m1b |
A |
T |
2: 87,836,239 (GRCm39) |
N285K |
probably damaging |
Het |
Pam |
C |
A |
1: 97,792,054 (GRCm39) |
A456S |
probably benign |
Het |
Pgap3 |
T |
C |
11: 98,289,764 (GRCm39) |
T76A |
possibly damaging |
Het |
Pkd2 |
C |
A |
5: 104,637,215 (GRCm39) |
Y609* |
probably null |
Het |
Plcg2 |
A |
G |
8: 118,310,234 (GRCm39) |
D362G |
probably damaging |
Het |
Polr3h |
C |
A |
15: 81,801,595 (GRCm39) |
A94S |
probably benign |
Het |
Rhod |
T |
C |
19: 4,482,186 (GRCm39) |
D76G |
probably damaging |
Het |
Rims2 |
T |
C |
15: 39,320,129 (GRCm39) |
V670A |
probably damaging |
Het |
Rpap3 |
G |
A |
15: 97,579,620 (GRCm39) |
T464M |
possibly damaging |
Het |
Rufy1 |
T |
A |
11: 50,297,310 (GRCm39) |
I381L |
probably benign |
Het |
Slc1a4 |
T |
C |
11: 20,256,506 (GRCm39) |
T442A |
probably damaging |
Het |
Slc9b1 |
T |
C |
3: 135,100,670 (GRCm39) |
S472P |
probably damaging |
Het |
Tmtc3 |
T |
C |
10: 100,287,294 (GRCm39) |
T501A |
possibly damaging |
Het |
Tnpo3 |
C |
A |
6: 29,555,181 (GRCm39) |
D801Y |
probably damaging |
Het |
Ttc39b |
T |
C |
4: 83,179,193 (GRCm39) |
Y111C |
probably damaging |
Het |
Ubr4 |
A |
T |
4: 139,127,240 (GRCm39) |
R543* |
probably null |
Het |
Vmn1r74 |
T |
G |
7: 11,581,240 (GRCm39) |
L180R |
probably damaging |
Het |
Vps45 |
T |
G |
3: 95,960,401 (GRCm39) |
E80A |
probably benign |
Het |
Zfp677 |
T |
C |
17: 21,617,107 (GRCm39) |
Y55H |
probably damaging |
Het |
Zng1 |
A |
G |
19: 24,900,130 (GRCm39) |
V289A |
probably benign |
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 |
IGL01775:Ablim3
|
APN |
18 |
61,949,989 (GRCm39) |
splice site |
probably benign |
|
IGL02967:Ablim3
|
APN |
18 |
61,959,574 (GRCm39) |
nonsense |
probably null |
|
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 |
2016-08-02 |