Incidental Mutation 'R5190:Ablim3'
| ID |
398077 |
| Institutional Source |
Beutler Lab
|
| 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: 0.099)
|
| Stock # |
R5190 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61952982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 361
(Y361H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049378]
[ENSMUST00000166783]
|
| AlphaFold |
Q69ZX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049378
AA Change: Y361H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: Y361H
| 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
AA Change: Y361H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: Y361H
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| 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 |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,835,427 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,980,735 (GRCm39) |
|
probably null |
Het |
| Acan |
C |
T |
7: 78,748,289 (GRCm39) |
T1020I |
probably benign |
Het |
| Baat |
A |
G |
4: 49,499,652 (GRCm39) |
L218P |
probably damaging |
Het |
| Bcl11b |
C |
A |
12: 107,955,975 (GRCm39) |
C58F |
probably damaging |
Het |
| Cand2 |
G |
T |
6: 115,766,474 (GRCm39) |
A360S |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,372 (GRCm39) |
V62A |
possibly damaging |
Het |
| Cep44 |
C |
T |
8: 56,985,831 (GRCm39) |
V354I |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,368,244 (GRCm39) |
R309Q |
unknown |
Het |
| Col3a1 |
G |
A |
1: 45,383,967 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crtac1 |
A |
G |
19: 42,322,347 (GRCm39) |
I131T |
possibly damaging |
Het |
| Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,051,724 (GRCm39) |
V1706A |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,369,357 (GRCm39) |
I63M |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,314,635 (GRCm39) |
D214G |
probably benign |
Het |
| Fam216a |
T |
A |
5: 122,505,584 (GRCm39) |
|
probably null |
Het |
| Fdxacb1 |
A |
C |
9: 50,683,387 (GRCm39) |
H248P |
possibly damaging |
Het |
| Gnai1 |
A |
T |
5: 18,496,596 (GRCm39) |
V109E |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,872,550 (GRCm39) |
|
probably null |
Het |
| Itgam |
T |
C |
7: 127,715,489 (GRCm39) |
|
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,187,836 (GRCm39) |
S766G |
probably benign |
Het |
| Klra1 |
C |
A |
6: 130,352,241 (GRCm39) |
C167F |
probably damaging |
Het |
| Krtap9-3 |
T |
A |
11: 99,488,808 (GRCm39) |
T25S |
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,295,626 (GRCm39) |
Y624C |
probably damaging |
Het |
| Or10ag2 |
A |
G |
2: 87,249,187 (GRCm39) |
Y263C |
probably damaging |
Het |
| Or1ad8 |
T |
G |
11: 50,898,381 (GRCm39) |
I194S |
probably damaging |
Het |
| Or2y1g |
T |
C |
11: 49,171,209 (GRCm39) |
V78A |
probably damaging |
Het |
| Or52e4 |
C |
T |
7: 104,705,660 (GRCm39) |
S69L |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,107 (GRCm39) |
Y217* |
probably null |
Het |
| P3h2 |
A |
G |
16: 25,803,699 (GRCm39) |
S356P |
possibly damaging |
Het |
| Pde12 |
C |
T |
14: 26,387,532 (GRCm39) |
|
probably null |
Het |
| Rln3 |
T |
G |
8: 84,769,866 (GRCm39) |
K94N |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,620,711 (GRCm39) |
I668V |
unknown |
Het |
| Slitrk5 |
C |
A |
14: 111,916,852 (GRCm39) |
Q159K |
probably damaging |
Het |
| Trim3 |
G |
T |
7: 105,268,716 (GRCm39) |
N79K |
probably damaging |
Het |
| Tyw1 |
T |
A |
5: 130,296,756 (GRCm39) |
C101* |
probably null |
Het |
| Ulk2 |
T |
C |
11: 61,672,537 (GRCm39) |
T934A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,608,072 (GRCm39) |
Y687C |
probably benign |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,556 (GRCm39) |
R9* |
probably null |
Het |
| Zfc3h1 |
T |
G |
10: 115,254,597 (GRCm39) |
L1397R |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,311,332 (GRCm39) |
V9A |
probably benign |
Het |
| Zfp423 |
T |
A |
8: 88,509,091 (GRCm39) |
S397C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCCCACAGACACTATGTG -3'
(R):5'- GAAGCCTAAGAATTCGTTCCCATC -3'
Sequencing Primer
(F):5'- AGACACTATGTGACCCCATTGTC -3'
(R):5'- CATCCTCCTCAGGTTGTGTGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation