Incidental Mutation 'R5277:Ablim1'
| ID | 404028 |
|---|
| 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 |
042864-MU
|
|---|
| Accession Numbers | Genbank: NM_178688; MGI: 1194500 |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.505)
|
|---|
| Stock # | R5277 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 19 |
|---|
| Chromosomal Location | 57032733-57314919 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 57155261 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Arginine to Glycine
at position 89
(R89G)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107183
(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: R152G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: R152G
| 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: R76G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: R76G
| 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 benign
Transcript: ENSMUST00000111524
AA Change: R75G
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: R75G
| 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: R76G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: R76G
| 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: R76G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: R76G
| 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: R76G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: R76G
| 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: R152G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: R152G
| 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: R89G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: R89G
| 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: R89G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: R89G
| 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: R98G
|
|---|
| SMART Domains |
Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: R98G
| 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 |
0.6467
|
|---|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
|---|
| Validation Efficiency |
98% (52/53) |
|---|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,994,648 |
T54A |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,117,389 |
|
probably null |
Het |
| Bhmt |
A |
T |
13: 93,624,885 |
M185K |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,684,741 |
|
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 104,309,470 |
|
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,424,346 |
S70P |
probably benign |
Het |
| Dclre1a |
C |
T |
19: 56,544,732 |
V477I |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,828,137 |
P4021L |
probably damaging |
Het |
| Dusp10 |
A |
G |
1: 184,037,007 |
N57D |
possibly damaging |
Het |
| Fam13b |
G |
A |
18: 34,462,190 |
R374C |
probably benign |
Het |
| Fyb2 |
G |
A |
4: 105,015,679 |
D686N |
probably damaging |
Het |
| Glra3 |
G |
A |
8: 55,991,207 |
M67I |
possibly damaging |
Het |
| Gm14325 |
G |
A |
2: 177,832,984 |
H102Y |
possibly damaging |
Het |
| Gm6180 |
A |
G |
8: 42,247,140 |
|
noncoding transcript |
Het |
| Grin2c |
A |
G |
11: 115,253,813 |
V629A |
probably damaging |
Het |
| Kif4-ps |
A |
T |
12: 101,145,927 |
|
noncoding transcript |
Het |
| Mc3r |
T |
C |
2: 172,249,787 |
F310L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,252,354 |
D1036G |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 54,956,562 |
I790T |
probably benign |
Het |
| Myo15 |
C |
A |
11: 60,477,114 |
Y233* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,026,540 |
C758* |
probably null |
Het |
| Neurog3 |
T |
A |
10: 62,133,853 |
Y36N |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,321,438 |
L450P |
probably benign |
Het |
| Olfr607 |
A |
T |
7: 103,460,941 |
L84H |
probably damaging |
Het |
| Otog |
A |
G |
7: 46,246,621 |
E170G |
possibly damaging |
Het |
| Ppp2r2b |
G |
T |
18: 42,741,142 |
T41K |
probably damaging |
Het |
| Prmt5 |
A |
T |
14: 54,509,942 |
D459E |
probably benign |
Het |
| Ric8b |
G |
A |
10: 84,947,652 |
V125M |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,822,956 |
S4G |
probably damaging |
Het |
| Rslcan18 |
T |
G |
13: 67,098,434 |
E371D |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,419,226 |
F819Y |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,276,544 |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,399,824 |
T163I |
possibly damaging |
Het |
| Sphkap |
T |
C |
1: 83,276,164 |
N1288S |
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,673,192 |
|
probably null |
Het |
| Tmem63c |
T |
A |
12: 87,057,757 |
|
probably null |
Het |
| Tmem69 |
A |
G |
4: 116,553,261 |
F171L |
probably benign |
Het |
| Urod |
A |
T |
4: 116,990,285 |
|
probably benign |
Het |
| Vmn1r37 |
A |
T |
6: 66,731,476 |
I29L |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,694,131 |
T653A |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 86,166,292 |
S121R |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,186,996 |
T831A |
probably benign |
Het |
| Wdr70 |
C |
T |
15: 7,976,984 |
W362* |
probably null |
Het |
| Zfat |
A |
G |
15: 68,165,909 |
C906R |
probably damaging |
Het |
| Zfp7 |
T |
C |
15: 76,881,203 |
V32A |
probably damaging |
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 |
|
|
R4354:Ablim1
|
UTSW |
19 |
57155278 |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTCTGTACTGTTCAGGACC -3'
(R):5'- TGTCCCCAAACCGTTGAGAG -3'
Sequencing Primer
(F):5'- CTCTGTACTGTTCAGGACCAGAGG -3'
(R):5'- CCAAACCGTTGAGAGCACAGG -3'
|
|---|
| Posted On | 2016-07-22 |
|---|
