Incidental Mutation 'R4354:Ablim1'
| ID | 327466 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Ablim1
|
|---|
| Ensembl Gene |
ENSMUSG00000025085 |
|---|
| Gene Name | actin-binding LIM protein 1 |
|---|
| Synonyms | 2210411C18Rik, abLIM-L, abLIM-M, 4833406P10Rik, abLIM-S, 9330196J19Rik, 2610209L21Rik, Limab1 |
|---|
| MMRRC Submission |
041107-MU
|
|---|
| Accession Numbers | Genbank: NM_178688; MGI: 1194500 |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.565)
|
|---|
| Stock # | R4354 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 19 |
|---|
| Chromosomal Location | 57032733-57314919 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to T
at 57155278 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Cysteine to Tyrosine
at position 83
(C83Y)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107184
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000111524]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079360
AA Change: C146Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: C146Y
| 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 damaging
Transcript: ENSMUST00000099294
AA Change: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: C70Y
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
1.14e-9 |
SMART |
|
LIM
|
81 |
133 |
1.37e-12 |
SMART |
|
LIM
|
149 |
200 |
1.12e-17 |
SMART |
|
LIM
|
208 |
260 |
5.87e-12 |
SMART |
|
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
|
coiled coil region
|
467 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
531 |
N/A |
INTRINSIC |
|
VHP
|
619 |
654 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111524
AA Change: C69Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: C69Y
| 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: ENSMUST00000111544
AA Change: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: C70Y
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
1.14e-9 |
SMART |
|
LIM
|
81 |
133 |
1.37e-12 |
SMART |
|
LIM
|
149 |
200 |
1.12e-17 |
SMART |
|
LIM
|
208 |
260 |
5.87e-12 |
SMART |
|
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
427 |
N/A |
INTRINSIC |
|
coiled coil region
|
481 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
545 |
N/A |
INTRINSIC |
|
VHP
|
633 |
668 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111546
AA Change: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: C70Y
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
5.7e-12 |
SMART |
|
LIM
|
81 |
133 |
6.6e-15 |
SMART |
|
LIM
|
149 |
200 |
5.4e-20 |
SMART |
|
LIM
|
208 |
260 |
2.8e-14 |
SMART |
|
low complexity region
|
284 |
293 |
N/A |
INTRINSIC |
|
coiled coil region
|
514 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
563 |
578 |
N/A |
INTRINSIC |
|
VHP
|
666 |
700 |
1.2e-15 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111550
AA Change: C70Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: C70Y
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
1.14e-9 |
SMART |
|
LIM
|
81 |
133 |
1.37e-12 |
SMART |
|
LIM
|
149 |
200 |
1.12e-17 |
SMART |
|
LIM
|
208 |
260 |
5.87e-12 |
SMART |
|
low complexity region
|
312 |
321 |
N/A |
INTRINSIC |
|
coiled coil region
|
495 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
559 |
N/A |
INTRINSIC |
|
VHP
|
647 |
682 |
1.22e-17 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111555
AA Change: C146Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: C146Y
| 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 damaging
Transcript: ENSMUST00000111558
AA Change: C83Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: C83Y
| 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 damaging
Transcript: ENSMUST00000111559
AA Change: C83Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: C83Y
| 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 |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133369
AA Change: C92Y
|
|---|
| SMART Domains |
Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: C92Y
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
45 |
96 |
1.14e-9 |
SMART |
|
LIM
|
104 |
156 |
1.37e-12 |
SMART |
|
LIM
|
172 |
223 |
1.12e-17 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156316
|
|---|
| Meta Mutation Damage Score |
0.9752
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
|---|
| Validation Efficiency |
97% (37/38) |
|---|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 63,973,209 |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,971,692 |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,918,771 |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,532,951 |
F81S |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 86,156,684 |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,755,635 |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,854,399 |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,390,001 |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,793,944 |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,444,826 |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 166,163,835 |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,468,911 |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 141,265,270 |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 45,114,444 |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,395,427 |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 123,026,983 |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,490,696 |
L14Q |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 94,024,557 |
T216I |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,906,431 |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,234,906 |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,058,111 |
K129E |
probably damaging |
Het |
| Olfr368 |
T |
C |
2: 37,331,876 |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,345,481 |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,674,826 |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 100,100,617 |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,906,869 |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,915,641 |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,639,728 |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,169,868 |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 167,242,872 |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 |
Y227H |
probably benign |
Het |
|
|---|
| Other mutations in Ablim1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
IGL00466:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
IGL00478:Ablim1
|
APN |
19 |
57068186 |
missense |
probably damaging |
1.00 |
|
IGL00847:Ablim1
|
APN |
19 |
57152290 |
missense |
possibly damaging |
0.59 |
|
IGL01063:Ablim1
|
APN |
19 |
57061328 |
missense |
probably damaging |
1.00 |
|
IGL01304:Ablim1
|
APN |
19 |
57215721 |
missense |
probably benign |
|
|
IGL01385:Ablim1
|
APN |
19 |
57068914 |
missense |
probably damaging |
1.00 |
|
IGL01707:Ablim1
|
APN |
19 |
57039447 |
missense |
probably damaging |
1.00 |
|
IGL02386:Ablim1
|
APN |
19 |
57134654 |
missense |
probably damaging |
1.00 |
|
IGL02427:Ablim1
|
APN |
19 |
57079880 |
splice site |
probably benign |
|
|
IGL02498:Ablim1
|
APN |
19 |
57152319 |
nonsense |
probably null |
|
|
A9681:Ablim1
|
UTSW |
19 |
57173323 |
critical splice donor site |
probably null |
|
|
R0089:Ablim1
|
UTSW |
19 |
57043031 |
missense |
probably damaging |
1.00 |
|
R0226:Ablim1
|
UTSW |
19 |
57043870 |
missense |
probably damaging |
1.00 |
|
R1419:Ablim1
|
UTSW |
19 |
57134633 |
missense |
probably damaging |
1.00 |
|
R1473:Ablim1
|
UTSW |
19 |
57068236 |
missense |
probably damaging |
1.00 |
|
R1587:Ablim1
|
UTSW |
19 |
57083547 |
start codon destroyed |
probably null |
0.99 |
|
R1588:Ablim1
|
UTSW |
19 |
57083547 |
start codon destroyed |
probably null |
0.99 |
|
R1935:Ablim1
|
UTSW |
19 |
57215965 |
start gained |
probably null |
|
|
R1936:Ablim1
|
UTSW |
19 |
57215965 |
start gained |
probably null |
|
|
R2021:Ablim1
|
UTSW |
19 |
57047018 |
missense |
probably damaging |
0.98 |
|
R2110:Ablim1
|
UTSW |
19 |
57043813 |
missense |
possibly damaging |
0.83 |
|
R2270:Ablim1
|
UTSW |
19 |
57077431 |
missense |
possibly damaging |
0.58 |
|
R2509:Ablim1
|
UTSW |
19 |
57152359 |
missense |
probably damaging |
1.00 |
|
R3621:Ablim1
|
UTSW |
19 |
57152303 |
missense |
probably damaging |
0.97 |
|
R3732:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3732:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3733:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3734:Ablim1
|
UTSW |
19 |
57049460 |
critical splice donor site |
probably null |
|
|
R3878:Ablim1
|
UTSW |
19 |
57037210 |
utr 3 prime |
probably null |
|
|
R4543:Ablim1
|
UTSW |
19 |
57077442 |
missense |
possibly damaging |
0.87 |
|
R4749:Ablim1
|
UTSW |
19 |
57215721 |
missense |
probably benign |
|
|
R4860:Ablim1
|
UTSW |
19 |
57079866 |
missense |
probably damaging |
1.00 |
|
R4860:Ablim1
|
UTSW |
19 |
57079866 |
missense |
probably damaging |
1.00 |
|
R5072:Ablim1
|
UTSW |
19 |
57073853 |
critical splice donor site |
probably null |
|
|
R5277:Ablim1
|
UTSW |
19 |
57155261 |
missense |
probably damaging |
1.00 |
|
R5331:Ablim1
|
UTSW |
19 |
57155249 |
missense |
probably damaging |
1.00 |
|
R5354:Ablim1
|
UTSW |
19 |
57130923 |
missense |
probably benign |
0.07 |
|
R5893:Ablim1
|
UTSW |
19 |
57215853 |
missense |
probably benign |
0.07 |
|
R5958:Ablim1
|
UTSW |
19 |
57041935 |
missense |
probably damaging |
1.00 |
|
R6435:Ablim1
|
UTSW |
19 |
57061355 |
missense |
possibly damaging |
0.69 |
|
R6460:Ablim1
|
UTSW |
19 |
57079839 |
missense |
possibly damaging |
0.96 |
|
R6642:Ablim1
|
UTSW |
19 |
57130852 |
missense |
probably benign |
0.03 |
|
R6662:Ablim1
|
UTSW |
19 |
57073853 |
critical splice donor site |
probably null |
|
|
R6705:Ablim1
|
UTSW |
19 |
57215821 |
missense |
probably benign |
0.01 |
|
R7111:Ablim1
|
UTSW |
19 |
57073877 |
missense |
probably benign |
0.05 |
|
R7291:Ablim1
|
UTSW |
19 |
57215908 |
missense |
probably benign |
|
|
R7363:Ablim1
|
UTSW |
19 |
57215741 |
missense |
probably benign |
0.10 |
|
R7984:Ablim1
|
UTSW |
19 |
57131002 |
splice site |
probably null |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCAAAGCTCTGGATGCTG -3'
(R):5'- AATAAATGGCTCTTTGTGCTCG -3'
Sequencing Primer
(F):5'- CAAAGCTCTGGATGCTGAAGCC -3'
(R):5'- GGCTCTTTGTGCTCGTCCAC -3'
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| Posted On | 2015-07-07 |
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