Incidental Mutation 'R8277:Ablim1'
ID |
638044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ablim1
|
Ensembl Gene |
ENSMUSG00000025085 |
Gene Name |
actin-binding LIM protein 1 |
Synonyms |
4833406P10Rik, 9330196J19Rik, 2610209L21Rik, Limab1, 2210411C18Rik, abLIM-S, abLIM-M, abLIM-L |
MMRRC Submission |
067700-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.355)
|
Stock # |
R8277 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57204351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 13
(L13F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000111524]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079360
AA Change: L13F
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000078336 Gene: ENSMUSG00000025085 AA Change: L13F
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
LIM
|
98 |
149 |
1.14e-9 |
SMART |
LIM
|
157 |
209 |
1.37e-12 |
SMART |
LIM
|
225 |
276 |
1.12e-17 |
SMART |
LIM
|
284 |
336 |
5.87e-12 |
SMART |
Pfam:AbLIM_anchor
|
393 |
825 |
1.9e-139 |
PFAM |
VHP
|
826 |
861 |
1.22e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111524
|
SMART Domains |
Protein: ENSMUSP00000107149 Gene: ENSMUSG00000025085
Domain | Start | End | E-Value | Type |
LIM
|
21 |
72 |
1.14e-9 |
SMART |
LIM
|
80 |
132 |
1.37e-12 |
SMART |
LIM
|
148 |
199 |
1.12e-17 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111555
AA Change: L13F
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000107180 Gene: ENSMUSG00000025085 AA Change: L13F
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
LIM
|
98 |
149 |
1.14e-9 |
SMART |
LIM
|
157 |
209 |
1.37e-12 |
SMART |
LIM
|
225 |
276 |
1.12e-17 |
SMART |
LIM
|
284 |
336 |
5.87e-12 |
SMART |
low complexity region
|
360 |
369 |
N/A |
INTRINSIC |
coiled coil region
|
590 |
614 |
N/A |
INTRINSIC |
low complexity region
|
639 |
654 |
N/A |
INTRINSIC |
VHP
|
742 |
777 |
1.22e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111558
|
SMART Domains |
Protein: ENSMUSP00000107183 Gene: ENSMUSG00000025085
Domain | Start | End | E-Value | Type |
LIM
|
35 |
86 |
1.14e-9 |
SMART |
LIM
|
94 |
146 |
1.37e-12 |
SMART |
LIM
|
162 |
213 |
1.12e-17 |
SMART |
LIM
|
221 |
273 |
5.87e-12 |
SMART |
low complexity region
|
325 |
334 |
N/A |
INTRINSIC |
low complexity region
|
498 |
503 |
N/A |
INTRINSIC |
coiled coil region
|
557 |
581 |
N/A |
INTRINSIC |
low complexity region
|
606 |
621 |
N/A |
INTRINSIC |
VHP
|
709 |
744 |
1.22e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111559
|
SMART Domains |
Protein: ENSMUSP00000107184 Gene: ENSMUSG00000025085
Domain | Start | End | E-Value | Type |
LIM
|
35 |
86 |
1.14e-9 |
SMART |
LIM
|
94 |
146 |
1.37e-12 |
SMART |
LIM
|
162 |
213 |
1.12e-17 |
SMART |
LIM
|
221 |
273 |
5.87e-12 |
SMART |
low complexity region
|
297 |
306 |
N/A |
INTRINSIC |
coiled coil region
|
527 |
551 |
N/A |
INTRINSIC |
low complexity region
|
576 |
591 |
N/A |
INTRINSIC |
VHP
|
679 |
714 |
1.22e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal LIM protein that binds to actin filaments via a domain that is homologous to erythrocyte dematin. LIM domains, found in over 60 proteins, play key roles in the regulation of developmental pathways. LIM domains also function as protein-binding interfaces, mediating specific protein-protein interactions. The protein encoded by this gene could mediate such interactions between actin filaments and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(4) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ablim1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00422:Ablim1
|
APN |
19 |
57,056,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00466:Ablim1
|
APN |
19 |
57,056,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00478:Ablim1
|
APN |
19 |
57,056,618 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00847:Ablim1
|
APN |
19 |
57,140,722 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL01063:Ablim1
|
APN |
19 |
57,049,760 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01304:Ablim1
|
APN |
19 |
57,204,153 (GRCm39) |
missense |
probably benign |
|
IGL01385:Ablim1
|
APN |
19 |
57,057,346 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01707:Ablim1
|
APN |
19 |
57,027,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02386:Ablim1
|
APN |
19 |
57,123,086 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:Ablim1
|
APN |
19 |
57,068,312 (GRCm39) |
splice site |
probably benign |
|
IGL02498:Ablim1
|
APN |
19 |
57,140,751 (GRCm39) |
nonsense |
probably null |
|
A9681:Ablim1
|
UTSW |
19 |
57,161,755 (GRCm39) |
critical splice donor site |
probably null |
|
R0089:Ablim1
|
UTSW |
19 |
57,031,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Ablim1
|
UTSW |
19 |
57,032,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R1419:Ablim1
|
UTSW |
19 |
57,123,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Ablim1
|
UTSW |
19 |
57,056,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R1587:Ablim1
|
UTSW |
19 |
57,071,979 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1588:Ablim1
|
UTSW |
19 |
57,071,979 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R1935:Ablim1
|
UTSW |
19 |
57,204,397 (GRCm39) |
start gained |
probably null |
|
R1936:Ablim1
|
UTSW |
19 |
57,204,397 (GRCm39) |
start gained |
probably null |
|
R2021:Ablim1
|
UTSW |
19 |
57,035,450 (GRCm39) |
missense |
probably damaging |
0.98 |
R2110:Ablim1
|
UTSW |
19 |
57,032,245 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2270:Ablim1
|
UTSW |
19 |
57,065,863 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2509:Ablim1
|
UTSW |
19 |
57,140,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R3621:Ablim1
|
UTSW |
19 |
57,140,735 (GRCm39) |
missense |
probably damaging |
0.97 |
R3732:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3732:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3733:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3734:Ablim1
|
UTSW |
19 |
57,037,892 (GRCm39) |
critical splice donor site |
probably null |
|
R3878:Ablim1
|
UTSW |
19 |
57,025,642 (GRCm39) |
splice site |
probably null |
|
R4354:Ablim1
|
UTSW |
19 |
57,143,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R4543:Ablim1
|
UTSW |
19 |
57,065,874 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4749:Ablim1
|
UTSW |
19 |
57,204,153 (GRCm39) |
missense |
probably benign |
|
R4860:Ablim1
|
UTSW |
19 |
57,068,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R4860:Ablim1
|
UTSW |
19 |
57,068,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R5072:Ablim1
|
UTSW |
19 |
57,062,285 (GRCm39) |
critical splice donor site |
probably null |
|
R5277:Ablim1
|
UTSW |
19 |
57,143,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R5331:Ablim1
|
UTSW |
19 |
57,143,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R5354:Ablim1
|
UTSW |
19 |
57,119,355 (GRCm39) |
missense |
probably benign |
0.07 |
R5893:Ablim1
|
UTSW |
19 |
57,204,285 (GRCm39) |
missense |
probably benign |
0.07 |
R5958:Ablim1
|
UTSW |
19 |
57,030,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R6435:Ablim1
|
UTSW |
19 |
57,049,787 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6460:Ablim1
|
UTSW |
19 |
57,068,271 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6642:Ablim1
|
UTSW |
19 |
57,119,284 (GRCm39) |
missense |
probably benign |
0.03 |
R6662:Ablim1
|
UTSW |
19 |
57,062,285 (GRCm39) |
critical splice donor site |
probably null |
|
R6705:Ablim1
|
UTSW |
19 |
57,204,253 (GRCm39) |
missense |
probably benign |
0.01 |
R7111:Ablim1
|
UTSW |
19 |
57,062,309 (GRCm39) |
missense |
probably benign |
0.05 |
R7291:Ablim1
|
UTSW |
19 |
57,204,340 (GRCm39) |
missense |
probably benign |
|
R7363:Ablim1
|
UTSW |
19 |
57,204,173 (GRCm39) |
missense |
probably benign |
0.10 |
R7901:Ablim1
|
UTSW |
19 |
57,119,434 (GRCm39) |
splice site |
probably null |
|
R7974:Ablim1
|
UTSW |
19 |
57,033,405 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8079:Ablim1
|
UTSW |
19 |
57,170,656 (GRCm39) |
critical splice donor site |
probably null |
|
R8087:Ablim1
|
UTSW |
19 |
57,170,688 (GRCm39) |
missense |
|
|
R8120:Ablim1
|
UTSW |
19 |
57,035,360 (GRCm39) |
missense |
probably benign |
0.00 |
R8339:Ablim1
|
UTSW |
19 |
57,032,281 (GRCm39) |
missense |
probably benign |
0.00 |
R8536:Ablim1
|
UTSW |
19 |
57,170,718 (GRCm39) |
intron |
probably benign |
|
R8857:Ablim1
|
UTSW |
19 |
57,119,287 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8875:Ablim1
|
UTSW |
19 |
57,119,386 (GRCm39) |
missense |
probably benign |
0.00 |
R8983:Ablim1
|
UTSW |
19 |
57,227,644 (GRCm39) |
missense |
probably benign |
0.02 |
R9055:Ablim1
|
UTSW |
19 |
57,030,398 (GRCm39) |
missense |
probably benign |
0.10 |
R9475:Ablim1
|
UTSW |
19 |
57,227,612 (GRCm39) |
missense |
probably benign |
0.00 |
R9505:Ablim1
|
UTSW |
19 |
57,185,782 (GRCm39) |
intron |
probably benign |
|
R9695:Ablim1
|
UTSW |
19 |
57,170,739 (GRCm39) |
missense |
|
|
R9762:Ablim1
|
UTSW |
19 |
57,025,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGCTAAACCTGAGCTCTG -3'
(R):5'- TCATCTGGCTGCAAATATGGC -3'
Sequencing Primer
(F):5'- TAAACCTGAGCTCTGGTGGAC -3'
(R):5'- CTGGCTGCAAATATGGCTAAGCTC -3'
|
Posted On |
2020-07-28 |