Incidental Mutation 'R5331:Ablim1'
| ID |
423293 |
| 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 |
042913-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R5331 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57021165-57303351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57143681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 80
(T80A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000111524]
[ENSMUST00000111544]
[ENSMUST00000111546]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111558]
[ENSMUST00000111559]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079360
AA Change: T156A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: T156A
| 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: T80A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: T80A
| 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 |
possibly damaging
Transcript: ENSMUST00000111524
AA Change: T79A
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: T79A
| 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: T80A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: T80A
| 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: T80A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: T80A
| 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 |
possibly damaging
Transcript: ENSMUST00000111550
AA Change: T80A
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: T80A
| 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 |
possibly damaging
Transcript: ENSMUST00000111555
AA Change: T156A
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: T156A
| 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 |
unknown
Transcript: ENSMUST00000133369
AA Change: T102A
|
| SMART Domains |
Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: T102A
| 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 |
probably damaging
Transcript: ENSMUST00000111558
AA Change: T93A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: T93A
| 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: T93A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: T93A
| 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 |
noncoding transcript
Transcript: ENSMUST00000156316
|
| Meta Mutation Damage Score |
0.1813 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
100% (99/99) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,615,375 (GRCm39) |
D83G |
probably benign |
Het |
| Adam6b |
C |
A |
12: 113,454,200 (GRCm39) |
P339H |
possibly damaging |
Het |
| Adgrb2 |
A |
T |
4: 129,915,995 (GRCm39) |
H1505L |
possibly damaging |
Het |
| Ankrd46 |
G |
A |
15: 36,486,175 (GRCm39) |
T26I |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,562,176 (GRCm39) |
N337S |
probably damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
| Cct5 |
A |
G |
15: 31,594,448 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,914,920 (GRCm39) |
K780E |
possibly damaging |
Het |
| Cds1 |
T |
C |
5: 101,946,361 (GRCm39) |
S187P |
probably damaging |
Het |
| Ces3a |
G |
A |
8: 105,784,188 (GRCm39) |
E416K |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,439,571 (GRCm39) |
|
probably benign |
Het |
| Chuk |
A |
T |
19: 44,067,394 (GRCm39) |
V587E |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Commd10 |
T |
C |
18: 47,093,497 (GRCm39) |
V19A |
probably damaging |
Het |
| Ctsa |
A |
G |
2: 164,676,229 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,051,573 (GRCm39) |
I3074F |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 40,804,320 (GRCm39) |
|
probably null |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Elp1 |
T |
C |
4: 56,800,001 (GRCm39) |
T42A |
probably benign |
Het |
| Enpp3 |
T |
A |
10: 24,684,058 (GRCm39) |
N227I |
probably damaging |
Het |
| Fam131c |
A |
T |
4: 141,110,141 (GRCm39) |
T180S |
probably benign |
Het |
| Fam193a |
C |
A |
5: 34,622,915 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
T |
C |
6: 85,456,888 (GRCm39) |
E427G |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,583 (GRCm39) |
K236E |
possibly damaging |
Het |
| Gm10152 |
A |
T |
7: 144,317,283 (GRCm39) |
|
noncoding transcript |
Het |
| Gm18025 |
C |
T |
12: 34,340,574 (GRCm39) |
C173Y |
probably benign |
Het |
| Gm5414 |
C |
A |
15: 101,533,099 (GRCm39) |
V443F |
probably damaging |
Het |
| Gm7334 |
T |
C |
17: 51,006,160 (GRCm39) |
S149P |
possibly damaging |
Het |
| Gpaa1 |
T |
A |
15: 76,216,511 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
G |
A |
10: 49,008,867 (GRCm39) |
T740M |
probably damaging |
Het |
| Gvin3 |
T |
C |
7: 106,197,958 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac5 |
T |
C |
11: 102,088,180 (GRCm39) |
Y930C |
probably damaging |
Het |
| Hepacam2 |
T |
C |
6: 3,483,377 (GRCm39) |
T211A |
probably benign |
Het |
| Herc4 |
G |
T |
10: 63,143,578 (GRCm39) |
E703* |
probably null |
Het |
| Hras |
T |
C |
7: 140,772,853 (GRCm39) |
M1V |
probably null |
Het |
| Il23r |
T |
G |
6: 67,400,479 (GRCm39) |
Q617P |
probably damaging |
Het |
| Insc |
T |
A |
7: 114,444,273 (GRCm39) |
M420K |
probably damaging |
Het |
| Ints10 |
A |
T |
8: 69,273,472 (GRCm39) |
|
probably null |
Het |
| Kank1 |
A |
G |
19: 25,388,693 (GRCm39) |
T789A |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,430,000 (GRCm39) |
L1785Q |
unknown |
Het |
| Kcnj12 |
A |
G |
11: 60,961,012 (GRCm39) |
K437E |
probably benign |
Het |
| Knl1 |
T |
A |
2: 118,900,736 (GRCm39) |
D812E |
possibly damaging |
Het |
| Luc7l |
C |
A |
17: 26,494,707 (GRCm39) |
C104* |
probably null |
Het |
| Lurap1 |
G |
A |
4: 116,001,601 (GRCm39) |
L31F |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,142,598 (GRCm39) |
S5G |
probably benign |
Het |
| Mon1b |
C |
T |
8: 114,362,899 (GRCm39) |
T49I |
probably null |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,682 (GRCm39) |
T290A |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,069,222 (GRCm39) |
|
probably benign |
Het |
| Mxd3 |
T |
C |
13: 55,477,071 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
A |
T |
3: 156,774,913 (GRCm39) |
K210* |
probably null |
Het |
| Nek7 |
A |
T |
1: 138,426,312 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,581,834 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,540,111 (GRCm39) |
T796A |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,859 (GRCm39) |
L1148I |
probably benign |
Het |
| Or5d46 |
T |
C |
2: 88,170,332 (GRCm39) |
L141P |
probably damaging |
Het |
| Osmr |
G |
C |
15: 6,872,362 (GRCm39) |
T244S |
probably damaging |
Het |
| Ovol3 |
T |
C |
7: 29,932,904 (GRCm39) |
D177G |
possibly damaging |
Het |
| Pcdha4 |
G |
A |
18: 37,087,755 (GRCm39) |
R646H |
probably benign |
Het |
| Pdilt |
T |
C |
7: 119,114,147 (GRCm39) |
E117G |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,314,005 (GRCm39) |
|
probably benign |
Het |
| Per3 |
G |
T |
4: 151,125,759 (GRCm39) |
L187I |
probably damaging |
Het |
| Plcl2 |
G |
A |
17: 50,816,876 (GRCm39) |
A81T |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,638,101 (GRCm39) |
N123D |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
| Psma5 |
T |
G |
3: 108,175,386 (GRCm39) |
V146G |
possibly damaging |
Het |
| Rgs11 |
A |
T |
17: 26,421,947 (GRCm39) |
M1L |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,678,038 (GRCm39) |
N130S |
probably benign |
Het |
| Rhbg |
T |
A |
3: 88,152,775 (GRCm39) |
T313S |
probably benign |
Het |
| Ripply2 |
T |
A |
9: 86,897,691 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,701 (GRCm39) |
V1011A |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scarf1 |
G |
A |
11: 75,406,406 (GRCm39) |
G230D |
probably damaging |
Het |
| Slc17a8 |
A |
G |
10: 89,425,356 (GRCm39) |
|
probably null |
Het |
| Slc22a14 |
A |
T |
9: 119,059,662 (GRCm39) |
L153Q |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,856,820 (GRCm39) |
I406T |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,730,190 (GRCm39) |
D355G |
probably benign |
Het |
| Socs7 |
A |
G |
11: 97,268,852 (GRCm39) |
D382G |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,254,503 (GRCm39) |
V1082A |
probably benign |
Het |
| Stox2 |
G |
A |
8: 47,866,662 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,335,258 (GRCm39) |
S524P |
probably damaging |
Het |
| Tbc1d9b |
C |
T |
11: 50,037,140 (GRCm39) |
A263V |
probably benign |
Het |
| Tekt5 |
C |
T |
16: 10,179,193 (GRCm39) |
M391I |
probably benign |
Het |
| Tfap2b |
A |
T |
1: 19,296,722 (GRCm39) |
M222L |
probably benign |
Het |
| Themis2 |
T |
C |
4: 132,510,244 (GRCm39) |
D652G |
possibly damaging |
Het |
| Tmem185b |
A |
G |
1: 119,455,322 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
A |
G |
5: 114,773,604 (GRCm39) |
Y253H |
probably damaging |
Het |
| Trpv5 |
G |
A |
6: 41,637,266 (GRCm39) |
R358C |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,460,578 (GRCm39) |
G2613E |
probably benign |
Het |
| Usp25 |
C |
A |
16: 76,847,446 (GRCm39) |
Q185K |
probably damaging |
Het |
| Xkr5 |
G |
A |
8: 18,983,484 (GRCm39) |
|
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,829,683 (GRCm39) |
P1331S |
probably damaging |
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 |
|
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'- AAAGCTCTGGATGCTGAAGCC -3'
(R):5'- GCAGAGCCCAATAATAAATGGC -3'
Sequencing Primer
(F):5'- CTGAAGCCAGCATTTGTCTATTG -3'
(R):5'- TGTCCCCAAACCGTTGAGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation