Incidental Mutation 'R4860:Ablim1'
| ID |
380234 |
| 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 |
042471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R4860 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57068298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 267
(T267A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111559]
[ENSMUST00000111550]
[ENSMUST00000111558]
[ENSMUST00000111555]
[ENSMUST00000111546]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079360
AA Change: T330A
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: T330A
| 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: ENSMUST00000099294
AA Change: T254A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: T254A
| 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: ENSMUST00000104902
AA Change: T14A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: T14A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
1e-8 |
PDB |
|
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
235 |
N/A |
INTRINSIC |
|
coiled coil region
|
358 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
422 |
N/A |
INTRINSIC |
|
VHP
|
510 |
545 |
1.22e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111526
AA Change: T14A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: T14A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
2e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
6e-9 |
PDB |
|
coiled coil region
|
213 |
237 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
277 |
N/A |
INTRINSIC |
|
VHP
|
365 |
400 |
1.22e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111528
AA Change: T14A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: T14A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
8e-9 |
PDB |
|
low complexity region
|
72 |
81 |
N/A |
INTRINSIC |
|
coiled coil region
|
267 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
331 |
N/A |
INTRINSIC |
|
VHP
|
419 |
454 |
1.22e-17 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111529
AA Change: T14A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: T14A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LIM
|
1 |
20 |
3e-7 |
BLAST |
|
PDB:1WIG|A
|
1 |
28 |
8e-9 |
PDB |
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
239 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
303 |
N/A |
INTRINSIC |
|
VHP
|
391 |
426 |
1.22e-17 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111544
AA Change: T254A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: T254A
| 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 |
noncoding transcript
Transcript: ENSMUST00000134430
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111559
AA Change: T267A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: T267A
| 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 |
probably damaging
Transcript: ENSMUST00000111550
AA Change: T254A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: T254A
| 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 |
noncoding transcript
Transcript: ENSMUST00000156316
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111558
AA Change: T267A
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: T267A
| 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: ENSMUST00000111555
AA Change: T330A
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: T330A
| 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 |
possibly damaging
Transcript: ENSMUST00000111546
AA Change: T254A
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: T254A
| 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 |
noncoding transcript
Transcript: ENSMUST00000133782
|
| Meta Mutation Damage Score |
0.1181 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| Validation Efficiency |
94% (98/104) |
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
T |
C |
8: 73,209,267 (GRCm39) |
S466P |
possibly damaging |
Het |
| Acap2 |
A |
T |
16: 30,922,317 (GRCm39) |
L724Q |
possibly damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,195,655 (GRCm39) |
N684S |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,019,384 (GRCm39) |
T89A |
possibly damaging |
Het |
| Agrp |
T |
C |
8: 106,294,000 (GRCm39) |
E41G |
probably benign |
Het |
| Ajm1 |
T |
C |
2: 25,468,765 (GRCm39) |
Y382C |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,084,916 (GRCm39) |
|
probably benign |
Het |
| Akr1d1 |
G |
A |
6: 37,541,426 (GRCm39) |
V308M |
probably damaging |
Het |
| Ap1m2 |
C |
T |
9: 21,220,970 (GRCm39) |
R54Q |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,862,900 (GRCm39) |
V692E |
probably damaging |
Het |
| Arid5b |
G |
T |
10: 68,078,925 (GRCm39) |
N137K |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| BC048679 |
T |
C |
7: 81,145,468 (GRCm39) |
N27D |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,007,674 (GRCm39) |
N237S |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,744,704 (GRCm39) |
L345F |
possibly damaging |
Het |
| Cngb3 |
A |
T |
4: 19,425,569 (GRCm39) |
N459I |
possibly damaging |
Het |
| Ctnnd2 |
A |
G |
15: 30,881,313 (GRCm39) |
E731G |
probably damaging |
Het |
| Cul1 |
G |
T |
6: 47,494,080 (GRCm39) |
K464N |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,494,125 (GRCm39) |
S479R |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,387,006 (GRCm39) |
D373E |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,394,237 (GRCm39) |
Q126R |
probably benign |
Het |
| Dnd1 |
C |
T |
18: 36,899,016 (GRCm39) |
|
probably benign |
Het |
| Dok2 |
T |
C |
14: 71,014,956 (GRCm39) |
F228L |
probably damaging |
Het |
| Dpep3 |
T |
G |
8: 106,702,821 (GRCm39) |
I314L |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,491,293 (GRCm39) |
F362L |
probably damaging |
Het |
| Espn |
G |
T |
4: 152,223,303 (GRCm39) |
R250S |
probably damaging |
Het |
| Faf1 |
A |
C |
4: 109,600,093 (GRCm39) |
N163H |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,163,125 (GRCm39) |
V635I |
probably benign |
Het |
| Garin5b |
C |
T |
7: 4,760,468 (GRCm39) |
|
probably null |
Het |
| Gask1b |
C |
A |
3: 79,843,981 (GRCm39) |
S36* |
probably null |
Het |
| Gm7579 |
G |
A |
7: 141,765,645 (GRCm39) |
C17Y |
unknown |
Het |
| Gpx8 |
G |
T |
13: 113,182,042 (GRCm39) |
Y130* |
probably null |
Het |
| Grm6 |
C |
T |
11: 50,755,439 (GRCm39) |
T857M |
probably benign |
Het |
| Gvin1 |
A |
T |
7: 105,762,643 (GRCm39) |
Y609N |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,443,881 (GRCm39) |
M30K |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,315,105 (GRCm39) |
|
probably benign |
Het |
| Iqub |
T |
C |
6: 24,450,841 (GRCm39) |
D586G |
probably damaging |
Het |
| Klhl22 |
G |
A |
16: 17,594,880 (GRCm39) |
|
silent |
Het |
| Klhl25 |
T |
C |
7: 75,516,798 (GRCm39) |
I568T |
probably benign |
Het |
| Krr1 |
C |
T |
10: 111,821,596 (GRCm39) |
|
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,645,093 (GRCm39) |
E411G |
probably damaging |
Het |
| Lepr |
A |
C |
4: 101,646,534 (GRCm39) |
I822L |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,846,921 (GRCm39) |
D896E |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,389,693 (GRCm39) |
G3114D |
probably damaging |
Het |
| Lyset |
A |
T |
12: 102,710,314 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,380,543 (GRCm39) |
Y1263N |
probably damaging |
Het |
| Mapk10 |
T |
C |
5: 103,138,485 (GRCm39) |
D180G |
probably damaging |
Het |
| Matr3 |
T |
A |
18: 35,714,693 (GRCm39) |
V113E |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,825,887 (GRCm39) |
F368Y |
possibly damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,319,737 (GRCm39) |
R238W |
probably benign |
Het |
| Mcrip2 |
G |
T |
17: 26,083,621 (GRCm39) |
T86N |
possibly damaging |
Het |
| Mink1 |
A |
G |
11: 70,502,418 (GRCm39) |
N1043S |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,464,262 (GRCm39) |
T1128I |
probably benign |
Het |
| Nrg2 |
T |
A |
18: 36,329,600 (GRCm39) |
Y205F |
probably damaging |
Het |
| Nsmce4a |
A |
T |
7: 130,135,321 (GRCm39) |
|
probably benign |
Het |
| Nubp2 |
A |
G |
17: 25,103,430 (GRCm39) |
M149T |
probably benign |
Het |
| Or4d2b |
T |
A |
11: 87,780,051 (GRCm39) |
M224L |
probably damaging |
Het |
| Or8d6 |
G |
T |
9: 39,853,800 (GRCm39) |
M81I |
probably benign |
Het |
| Or8j3c |
T |
C |
2: 86,253,301 (GRCm39) |
T240A |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,169,093 (GRCm39) |
I191T |
possibly damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,343,135 (GRCm39) |
N137D |
possibly damaging |
Het |
| Pik3c2a |
G |
A |
7: 115,939,391 (GRCm39) |
A1649V |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,434,879 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,400,774 (GRCm39) |
S2183P |
possibly damaging |
Het |
| Plekho1 |
T |
A |
3: 95,896,305 (GRCm39) |
Q388L |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,892,012 (GRCm39) |
T91A |
probably benign |
Het |
| Ptger4 |
G |
T |
15: 5,272,087 (GRCm39) |
N177K |
probably benign |
Het |
| Reln |
A |
G |
5: 22,106,749 (GRCm39) |
F3207S |
probably benign |
Het |
| Rigi |
G |
T |
4: 40,210,000 (GRCm39) |
S644R |
probably damaging |
Het |
| Ripk4 |
C |
T |
16: 97,552,736 (GRCm39) |
R194H |
probably damaging |
Het |
| Rnf112 |
A |
T |
11: 61,343,570 (GRCm39) |
C112S |
possibly damaging |
Het |
| Rprd1b |
T |
G |
2: 157,916,855 (GRCm39) |
Y278* |
probably null |
Het |
| Sel1l |
A |
G |
12: 91,798,376 (GRCm39) |
L140P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc38a3 |
A |
G |
9: 107,532,263 (GRCm39) |
V423A |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,989,315 (GRCm39) |
T131A |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,181,364 (GRCm39) |
V323E |
probably benign |
Het |
| Smim6 |
T |
C |
11: 115,804,330 (GRCm39) |
V39A |
probably benign |
Het |
| Snapc3 |
C |
T |
4: 83,383,134 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,325,449 (GRCm39) |
T382A |
probably benign |
Het |
| Sparc |
G |
A |
11: 55,290,037 (GRCm39) |
T218I |
possibly damaging |
Het |
| Steap1 |
A |
T |
5: 5,786,589 (GRCm39) |
F283I |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,895,671 (GRCm39) |
T586A |
probably benign |
Het |
| Tango2 |
A |
G |
16: 18,128,765 (GRCm39) |
|
silent |
Het |
| Tbce |
T |
A |
13: 14,194,380 (GRCm39) |
D93V |
probably damaging |
Het |
| Tcf12 |
C |
T |
9: 71,766,122 (GRCm39) |
G504S |
probably null |
Het |
| Tex55 |
A |
G |
16: 38,648,507 (GRCm39) |
S201P |
probably damaging |
Het |
| Tle4 |
A |
T |
19: 14,441,709 (GRCm39) |
I435K |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,899,164 (GRCm39) |
F254S |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,699,722 (GRCm39) |
K377R |
probably benign |
Het |
| Ulk4 |
G |
A |
9: 121,079,968 (GRCm39) |
T497M |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,285,472 (GRCm39) |
T2003S |
probably benign |
Het |
| Usp53 |
A |
G |
3: 122,755,012 (GRCm39) |
S32P |
possibly damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,683 (GRCm39) |
L98Q |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,712 (GRCm39) |
D836V |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,813,731 (GRCm39) |
F165L |
probably benign |
Het |
| Vstm4 |
A |
G |
14: 32,585,742 (GRCm39) |
E103G |
possibly damaging |
Het |
| Zfp384 |
G |
A |
6: 125,007,893 (GRCm39) |
|
silent |
Het |
| Zfp870 |
A |
T |
17: 33,102,314 (GRCm39) |
C339* |
probably null |
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 |
|
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 |
|
R8277:Ablim1
|
UTSW |
19 |
57,204,351 (GRCm39) |
missense |
probably benign |
0.10 |
|
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'- CCTCTTAGTTGGCCATTTGGAC -3'
(R):5'- GTGCCCTGTGTACAGCAAGTTC -3'
Sequencing Primer
(F):5'- CCATTTGGACTTTGGCCTCAGG -3'
(R):5'- CTGTGTACAGCAAGTTCAGAACTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation