Incidental Mutation 'R0226:Ablim1'
| ID |
33976 |
| 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 |
038471-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R0226 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57032302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 556
(L556Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111559]
[ENSMUST00000111558]
[ENSMUST00000111546]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079360
AA Change: L703Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: L703Q
| 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: L496Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: L496Q
| 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: L387Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: L387Q
| 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: L242Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: L242Q
| 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: L296Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: L296Q
| 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: L268Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: L268Q
| 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 |
probably damaging
Transcript: ENSMUST00000111544
AA Change: L510Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: L510Q
| 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: ENSMUST00000111550
AA Change: L524Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: L524Q
| 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: L619Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: L619Q
| 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: ENSMUST00000111559
AA Change: L556Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: L556Q
| 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: ENSMUST00000111558
AA Change: L586Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: L586Q
| 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: ENSMUST00000111546
AA Change: L543Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: L543Q
| 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: ENSMUST00000156316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127198
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
100% (98/98) |
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
T |
14: 59,379,569 (GRCm39) |
T54K |
possibly damaging |
Het |
| 2210408I21Rik |
A |
T |
13: 77,451,544 (GRCm39) |
E876V |
possibly damaging |
Het |
| Aasdh |
A |
T |
5: 77,049,849 (GRCm39) |
L49Q |
probably damaging |
Het |
| Abca8b |
T |
C |
11: 109,847,844 (GRCm39) |
|
probably null |
Het |
| Afdn |
A |
G |
17: 14,119,408 (GRCm39) |
T1700A |
probably benign |
Het |
| Agl |
G |
A |
3: 116,545,720 (GRCm39) |
R1359C |
probably damaging |
Het |
| Agpat3 |
T |
A |
10: 78,113,863 (GRCm39) |
H275L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,577,586 (GRCm39) |
C180* |
probably null |
Het |
| Aim2 |
A |
G |
1: 173,289,899 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
T |
C |
15: 42,331,631 (GRCm39) |
N320S |
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,727 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
C |
T |
8: 110,581,694 (GRCm39) |
S654L |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,987,977 (GRCm39) |
S173R |
probably benign |
Het |
| Brd8 |
T |
C |
18: 34,736,947 (GRCm39) |
|
probably benign |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,670 (GRCm39) |
T161A |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,271,965 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ccdc149 |
A |
G |
5: 52,557,559 (GRCm39) |
L273P |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,122,899 (GRCm39) |
R1405Q |
probably damaging |
Het |
| Cox17 |
T |
C |
16: 38,169,638 (GRCm39) |
L48P |
probably damaging |
Het |
| Cttn |
A |
G |
7: 143,995,589 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,743,619 (GRCm39) |
|
probably benign |
Het |
| Dtnbp1 |
A |
G |
13: 45,076,669 (GRCm39) |
L175P |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,342,219 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,162,830 (GRCm39) |
R2152Q |
possibly damaging |
Het |
| Fignl1 |
A |
T |
11: 11,751,061 (GRCm39) |
S665T |
probably benign |
Het |
| Gm9843 |
A |
T |
16: 76,200,449 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr155 |
C |
T |
2: 73,197,936 (GRCm39) |
V395I |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,522,076 (GRCm39) |
|
probably benign |
Het |
| Hdgfl1 |
A |
T |
13: 26,953,979 (GRCm39) |
H31Q |
probably benign |
Het |
| Heatr1 |
T |
C |
13: 12,425,443 (GRCm39) |
S628P |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,005,456 (GRCm39) |
T685A |
probably benign |
Het |
| Hmgcl |
T |
G |
4: 135,686,039 (GRCm39) |
V168G |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,041,314 (GRCm39) |
I454T |
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,120,110 (GRCm39) |
D309G |
possibly damaging |
Het |
| Kcmf1 |
T |
C |
6: 72,819,935 (GRCm39) |
I304V |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 191,959,112 (GRCm39) |
W222* |
probably null |
Het |
| Kcnh1 |
G |
T |
1: 191,959,113 (GRCm39) |
W222C |
probably damaging |
Het |
| Kif24 |
T |
A |
4: 41,414,939 (GRCm39) |
K287* |
probably null |
Het |
| Lrig3 |
A |
G |
10: 125,807,986 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,367,907 (GRCm39) |
C202S |
probably null |
Het |
| Lrrc37 |
A |
T |
11: 103,494,067 (GRCm39) |
F663L |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,558 (GRCm39) |
N208D |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,852,880 (GRCm39) |
T664I |
possibly damaging |
Het |
| Mfsd10 |
A |
G |
5: 34,791,790 (GRCm39) |
L365S |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,697,849 (GRCm39) |
|
probably benign |
Het |
| Mgat4e |
A |
G |
1: 134,468,841 (GRCm39) |
V401A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,758,969 (GRCm39) |
V360L |
probably benign |
Het |
| Mrm1 |
G |
A |
11: 84,709,996 (GRCm39) |
A68V |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,788,558 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,510 (GRCm39) |
T311A |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,875,251 (GRCm39) |
F1552L |
probably benign |
Het |
| Myo7b |
C |
T |
18: 32,105,949 (GRCm39) |
V1353I |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,806,476 (GRCm39) |
S1512P |
probably damaging |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Osbpl3 |
A |
G |
6: 50,329,988 (GRCm39) |
W63R |
probably damaging |
Het |
| Pcdh17 |
T |
C |
14: 84,685,641 (GRCm39) |
S703P |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,815,237 (GRCm39) |
I1231T |
probably damaging |
Het |
| Pex16 |
A |
C |
2: 92,206,032 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
T |
C |
10: 77,828,368 (GRCm39) |
N399S |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,390,180 (GRCm39) |
R1432K |
possibly damaging |
Het |
| Prdm1 |
T |
A |
10: 44,332,692 (GRCm39) |
T106S |
probably benign |
Het |
| Prrc1 |
A |
G |
18: 57,496,363 (GRCm39) |
M105V |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,217,883 (GRCm39) |
C12R |
possibly damaging |
Het |
| Rnf43 |
A |
T |
11: 87,622,263 (GRCm39) |
S455C |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,787,442 (GRCm39) |
K977R |
probably damaging |
Het |
| Sart1 |
C |
T |
19: 5,431,150 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,998,167 (GRCm39) |
S509G |
probably benign |
Het |
| Sin3b |
A |
T |
8: 73,471,136 (GRCm39) |
E361V |
probably benign |
Het |
| Slc35e3 |
C |
T |
10: 117,576,795 (GRCm39) |
E179K |
possibly damaging |
Het |
| Sntb2 |
T |
C |
8: 107,728,215 (GRCm39) |
S388P |
probably damaging |
Het |
| Srms |
A |
G |
2: 180,854,175 (GRCm39) |
S131P |
probably benign |
Het |
| Sting1 |
A |
T |
18: 35,872,141 (GRCm39) |
F120L |
probably benign |
Het |
| Stxbp5 |
T |
C |
10: 9,742,442 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,816,961 (GRCm39) |
V167A |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,321,899 (GRCm39) |
Y1516H |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,544,513 (GRCm39) |
|
probably benign |
Het |
| Tnfaip3 |
T |
C |
10: 18,878,495 (GRCm39) |
K771R |
probably damaging |
Het |
| Treml1 |
C |
T |
17: 48,667,486 (GRCm39) |
L124F |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,611,141 (GRCm39) |
Q9137K |
possibly damaging |
Het |
| Unkl |
T |
A |
17: 25,449,685 (GRCm39) |
I469N |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,508 (GRCm39) |
V248L |
possibly damaging |
Het |
| Vps35 |
T |
C |
8: 86,000,204 (GRCm39) |
Q474R |
probably damaging |
Het |
| Wdr17 |
T |
A |
8: 55,116,043 (GRCm39) |
T580S |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,583 (GRCm39) |
K222E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,096,511 (GRCm39) |
T1446A |
probably benign |
Het |
| Zfp277 |
A |
G |
12: 40,414,161 (GRCm39) |
L228S |
possibly damaging |
Het |
| Zfp941 |
T |
A |
7: 140,393,188 (GRCm39) |
K57M |
probably damaging |
Het |
| Zmpste24 |
A |
T |
4: 120,938,406 (GRCm39) |
S244R |
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 |
|
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 |
|
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'- TCTGTACCTCTGGACAGGGCAATC -3'
(R):5'- TGAAGCCTAGCACTGGAAAGCTAAC -3'
Sequencing Primer
(F):5'- CTGGACAGGGCAATCTATTTTAAGC -3'
(R):5'- CTGGAAAGCTAACAGGGCTTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation