Incidental Mutation 'R5353:Ablim3'
| ID |
423939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ablim3
|
| Ensembl Gene |
ENSMUSG00000032735 |
| Gene Name |
actin binding LIM protein family, member 3 |
| Synonyms |
D930036B08Rik |
| MMRRC Submission |
042932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61934470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 649
(S649P)
|
| 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: S649P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: S649P
| 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: S649P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: S649P
| 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 |
|
| Meta Mutation Damage Score |
0.8415 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (59/59) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,496 (GRCm39) |
M35L |
probably benign |
Het |
| Adgrg3 |
A |
T |
8: 95,762,556 (GRCm39) |
H202L |
probably damaging |
Het |
| Anln |
G |
T |
9: 22,271,813 (GRCm39) |
R681S |
probably damaging |
Het |
| Aprt |
A |
T |
8: 123,302,147 (GRCm39) |
M1K |
probably null |
Het |
| Arid3b |
G |
T |
9: 57,702,320 (GRCm39) |
|
probably null |
Het |
| Cbl |
A |
G |
9: 44,084,620 (GRCm39) |
F172L |
probably damaging |
Het |
| Cd109 |
G |
T |
9: 78,617,521 (GRCm39) |
V1340L |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,928,593 (GRCm39) |
Y148H |
probably damaging |
Het |
| Cog7 |
A |
C |
7: 121,540,470 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
A |
T |
15: 76,486,771 (GRCm39) |
I255N |
probably damaging |
Het |
| Crebzf |
G |
A |
7: 90,092,622 (GRCm39) |
G134R |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,849,661 (GRCm39) |
S1705G |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,726,082 (GRCm39) |
H1409Q |
probably benign |
Het |
| Fank1 |
A |
G |
7: 133,478,632 (GRCm39) |
D232G |
probably damaging |
Het |
| Fat1 |
G |
T |
8: 45,489,168 (GRCm39) |
V3480L |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fmn2 |
G |
T |
1: 174,330,572 (GRCm39) |
G321W |
unknown |
Het |
| Greb1 |
A |
T |
12: 16,738,567 (GRCm39) |
Y1465* |
probably null |
Het |
| Hdac9 |
G |
A |
12: 34,443,392 (GRCm39) |
Q330* |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,354,639 (GRCm39) |
T298I |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,901,464 (GRCm39) |
D1055G |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,946,660 (GRCm39) |
S487P |
probably damaging |
Het |
| Naa38 |
G |
A |
11: 69,287,408 (GRCm39) |
V110I |
probably benign |
Het |
| Nkd2 |
T |
C |
13: 73,969,557 (GRCm39) |
H303R |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,222,125 (GRCm38) |
C49R |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,099 (GRCm39) |
V103A |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,324 (GRCm39) |
Y200H |
probably damaging |
Het |
| Ovch2 |
T |
A |
7: 107,393,631 (GRCm39) |
E165V |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,947,012 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
G |
A |
9: 105,545,137 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
C |
2: 121,142,201 (GRCm39) |
V1416G |
probably benign |
Het |
| Ppm1b |
T |
C |
17: 85,301,537 (GRCm39) |
V139A |
probably benign |
Het |
| Ppp1r12a |
T |
G |
10: 108,097,077 (GRCm39) |
|
probably null |
Het |
| Pramel20 |
A |
G |
4: 143,297,807 (GRCm39) |
T76A |
probably benign |
Het |
| Psmc5 |
G |
T |
11: 106,152,327 (GRCm39) |
A115S |
probably damaging |
Het |
| Ptpn5 |
T |
A |
7: 46,731,642 (GRCm39) |
E409V |
probably benign |
Het |
| Ptprg |
T |
A |
14: 11,554,235 (GRCm38) |
|
probably benign |
Het |
| Qrich1 |
G |
T |
9: 108,422,164 (GRCm39) |
V593F |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,385,741 (GRCm39) |
I175V |
probably benign |
Het |
| Selenot |
T |
C |
3: 58,493,387 (GRCm39) |
F88S |
possibly damaging |
Het |
| Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
| Spred2 |
A |
G |
11: 19,968,155 (GRCm39) |
D208G |
possibly damaging |
Het |
| Surf1 |
T |
C |
2: 26,804,204 (GRCm39) |
T197A |
probably benign |
Het |
| Taco1 |
G |
A |
11: 105,963,539 (GRCm39) |
|
probably null |
Het |
| Tas2r109 |
A |
G |
6: 132,957,594 (GRCm39) |
V112A |
possibly damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,319,182 (GRCm39) |
I280T |
probably benign |
Het |
| Yipf2 |
A |
G |
9: 21,503,228 (GRCm39) |
Y80H |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,548,178 (GRCm39) |
V120A |
possibly 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 |
|
R5190:Ablim3
|
UTSW |
18 |
61,952,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGCGTGTCAGGATAGAGATTTAC -3'
(R):5'- TCAACACCCTCCTGAGATGG -3'
Sequencing Primer
(F):5'- TAGAGCCTCAGCCTAGAA -3'
(R):5'- AGCATACCACCCTGGAGAGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation