Incidental Mutation 'R5354:Ablim1'
| ID |
424014 |
| 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 |
042933-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R5354 (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 57119355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 243
(E243G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107149
(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 benign
Transcript: ENSMUST00000079360
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
| 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: E243G
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107149
Gene: ENSMUSG00000025085
AA Change: E243G
| 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 benign
Transcript: ENSMUST00000111544
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111546
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111550
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
| 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 benign
Transcript: ENSMUST00000111555
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
| 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: E266G
|
| SMART Domains |
Protein: ENSMUSP00000117798
Gene: ENSMUSG00000025085
AA Change: E266G
| 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: ENSMUST00000128212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134430
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156316
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111558
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
| 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: ENSMUST00000111559
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (80/80) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
A |
G |
16: 14,436,535 (GRCm39) |
K196R |
probably benign |
Het |
| Acat1 |
T |
A |
9: 53,500,483 (GRCm39) |
E271V |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,180,290 (GRCm39) |
|
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Agbl3 |
T |
A |
6: 34,791,687 (GRCm39) |
H596Q |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,514,977 (GRCm39) |
L177P |
possibly damaging |
Het |
| Atp11a |
A |
T |
8: 12,856,753 (GRCm39) |
N48I |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,191,316 (GRCm39) |
N492I |
possibly damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,209,278 (GRCm39) |
Y498C |
probably damaging |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,188 (GRCm39) |
C338Y |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Ckap2 |
A |
C |
8: 22,667,581 (GRCm39) |
N93K |
probably damaging |
Het |
| Clca3a1 |
A |
T |
3: 144,442,766 (GRCm39) |
S759R |
possibly damaging |
Het |
| Coro1c |
A |
T |
5: 113,984,226 (GRCm39) |
I347N |
possibly damaging |
Het |
| Cpox |
A |
G |
16: 58,491,205 (GRCm39) |
T139A |
probably damaging |
Het |
| Cyp4a12b |
C |
A |
4: 115,290,661 (GRCm39) |
|
probably null |
Het |
| Dctn1 |
T |
G |
6: 83,160,108 (GRCm39) |
V116G |
possibly damaging |
Het |
| Dhx38 |
A |
G |
8: 110,282,378 (GRCm39) |
V683A |
probably damaging |
Het |
| Dnah12 |
G |
A |
14: 26,496,299 (GRCm39) |
|
probably null |
Het |
| Dnajb7 |
T |
C |
15: 81,292,208 (GRCm39) |
E43G |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,220,632 (GRCm39) |
V714E |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Egfem1 |
T |
C |
3: 29,136,361 (GRCm39) |
|
probably null |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fmo1 |
T |
C |
1: 162,657,714 (GRCm39) |
T476A |
probably benign |
Het |
| Gm10237 |
T |
C |
16: 35,741,099 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14496 |
A |
G |
2: 181,642,602 (GRCm39) |
S758G |
probably damaging |
Het |
| Gpat2 |
T |
A |
2: 127,270,643 (GRCm39) |
L97Q |
probably damaging |
Het |
| Gpr162 |
T |
C |
6: 124,836,600 (GRCm39) |
D357G |
probably benign |
Het |
| Hax1 |
A |
T |
3: 89,905,262 (GRCm39) |
D34E |
probably damaging |
Het |
| Hmgcr |
C |
T |
13: 96,791,404 (GRCm39) |
V97M |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,619,631 (GRCm39) |
T105A |
probably benign |
Het |
| Ints1 |
A |
G |
5: 139,752,183 (GRCm39) |
|
probably null |
Het |
| Islr |
T |
C |
9: 58,064,895 (GRCm39) |
E204G |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,151,996 (GRCm39) |
N60D |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,237,330 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
A |
7: 47,848,077 (GRCm39) |
R284W |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,146,551 (GRCm39) |
N1508I |
possibly damaging |
Het |
| Nufip2 |
A |
G |
11: 77,577,103 (GRCm39) |
H17R |
unknown |
Het |
| Oasl1 |
A |
T |
5: 115,075,055 (GRCm39) |
I372L |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,357 (GRCm39) |
Y123* |
probably null |
Het |
| Or6p1 |
T |
C |
1: 174,258,252 (GRCm39) |
L86P |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,184,440 (GRCm39) |
Y226N |
probably damaging |
Het |
| Pcdhb13 |
G |
T |
18: 37,577,844 (GRCm39) |
G741C |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,259 (GRCm39) |
D340G |
probably damaging |
Het |
| Pclo |
C |
A |
5: 14,728,822 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,159,523 (GRCm39) |
N416K |
probably damaging |
Het |
| Pde10a |
C |
A |
17: 9,180,812 (GRCm39) |
R398S |
probably damaging |
Het |
| Plin1 |
T |
A |
7: 79,375,469 (GRCm39) |
T227S |
possibly damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,166 (GRCm39) |
D542G |
probably damaging |
Het |
| Ppp4r3b |
T |
A |
11: 29,161,646 (GRCm39) |
D673E |
probably benign |
Het |
| Prr18 |
C |
A |
17: 8,559,892 (GRCm39) |
P16Q |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,889,698 (GRCm39) |
Y440N |
probably damaging |
Het |
| Rassf5 |
T |
C |
1: 131,108,385 (GRCm39) |
I232V |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,577,592 (GRCm39) |
D218V |
probably damaging |
Het |
| Skint10 |
T |
C |
4: 112,568,790 (GRCm39) |
N309S |
possibly damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,279,584 (GRCm39) |
M121T |
possibly damaging |
Het |
| Slit3 |
A |
G |
11: 35,566,740 (GRCm39) |
D1004G |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,717,177 (GRCm39) |
V215I |
possibly damaging |
Het |
| Son |
T |
C |
16: 91,452,627 (GRCm39) |
L458S |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,914,395 (GRCm39) |
A782V |
probably damaging |
Het |
| Synpo |
A |
G |
18: 60,735,303 (GRCm39) |
|
probably null |
Het |
| Thbs3 |
A |
G |
3: 89,128,684 (GRCm39) |
D458G |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,321,675 (GRCm39) |
R3C |
probably damaging |
Het |
| Trp63 |
A |
G |
16: 25,503,105 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
C |
A |
6: 58,192,581 (GRCm39) |
R141L |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,945,484 (GRCm39) |
I699V |
probably benign |
Het |
| Xkr6 |
A |
G |
14: 64,056,353 (GRCm39) |
D88G |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,379,050 (GRCm39) |
|
probably benign |
Het |
| Zbtb7b |
T |
C |
3: 89,286,913 (GRCm39) |
|
probably benign |
Het |
| Zfp618 |
A |
T |
4: 62,998,265 (GRCm39) |
D33V |
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 |
|
R5331:Ablim1
|
UTSW |
19 |
57,143,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAGACTGGTCCTGCTTTCTC -3'
(R):5'- TTGCATGCGTGTTTACATTCAC -3'
Sequencing Primer
(F):5'- GAGTCACTAGCAGTCACATGTCTTG -3'
(R):5'- GCGTGTTTACATTCACTTCAACAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation