Incidental Mutation 'R1473:Ablim1'
| ID |
165967 |
| 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 |
039526-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R1473 (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 57056668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 342
(D342G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079360]
[ENSMUST00000099294]
[ENSMUST00000104902]
[ENSMUST00000111526]
[ENSMUST00000111528]
[ENSMUST00000111529]
[ENSMUST00000111544]
[ENSMUST00000111558]
[ENSMUST00000111559]
[ENSMUST00000111550]
[ENSMUST00000111555]
[ENSMUST00000111546]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079360
AA Change: D421G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078336
Gene: ENSMUSG00000025085
AA Change: D421G
| 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: D301G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096897
Gene: ENSMUSG00000025085
AA Change: D301G
| 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: D105G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127818
Gene: ENSMUSG00000025085
AA Change: D105G
| 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: D35G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107151
Gene: ENSMUSG00000025085
AA Change: D35G
| 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: D89G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107153
Gene: ENSMUSG00000025085
AA Change: D89G
| 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: D61G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107154
Gene: ENSMUSG00000025085
AA Change: D61G
| 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: D301G
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107169
Gene: ENSMUSG00000025085
AA Change: D301G
| 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: ENSMUST00000111558
AA Change: D342G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107183
Gene: ENSMUSG00000025085
AA Change: D342G
| 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: D314G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107184
Gene: ENSMUSG00000025085
AA Change: D314G
| 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: D329G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107175
Gene: ENSMUSG00000025085
AA Change: D329G
| 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: D377G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107180
Gene: ENSMUSG00000025085
AA Change: D377G
| 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 benign
Transcript: ENSMUST00000111546
AA Change: D301G
PolyPhen 2
Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107172
Gene: ENSMUSG00000025085
AA Change: D301G
| 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: ENSMUST00000133782
|
| Meta Mutation Damage Score |
0.1767 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
98% (88/90) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad8 |
T |
C |
9: 26,890,337 (GRCm39) |
T293A |
probably benign |
Het |
| Adamts13 |
C |
A |
2: 26,871,765 (GRCm39) |
Y310* |
probably null |
Het |
| Adcy6 |
T |
A |
15: 98,490,624 (GRCm39) |
Y1102F |
probably damaging |
Het |
| Ahctf1 |
G |
A |
1: 179,603,673 (GRCm39) |
T791M |
probably benign |
Het |
| Ahctf1 |
A |
G |
1: 179,626,844 (GRCm39) |
V18A |
probably damaging |
Het |
| Ahcyl |
T |
A |
16: 45,975,182 (GRCm39) |
E65V |
probably damaging |
Het |
| Ampd3 |
T |
G |
7: 110,404,142 (GRCm39) |
S564R |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,459,617 (GRCm39) |
I1814K |
possibly damaging |
Het |
| Arl4c |
A |
T |
1: 88,629,331 (GRCm39) |
L19Q |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,516,198 (GRCm39) |
Y49H |
probably damaging |
Het |
| Ccdc121rt3 |
T |
C |
5: 112,502,415 (GRCm39) |
T430A |
probably benign |
Het |
| Ccdc24 |
G |
T |
4: 117,727,101 (GRCm39) |
|
probably benign |
Het |
| Ceacam23 |
A |
G |
7: 17,639,016 (GRCm39) |
|
noncoding transcript |
Het |
| Clcn6 |
A |
C |
4: 148,108,613 (GRCm39) |
F139V |
possibly damaging |
Het |
| Col2a1 |
A |
G |
15: 97,880,789 (GRCm39) |
|
probably benign |
Het |
| Crip2 |
T |
A |
12: 113,107,120 (GRCm39) |
C29S |
probably damaging |
Het |
| Cyp2a4 |
A |
C |
7: 26,014,188 (GRCm39) |
N455T |
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
| Dhcr7 |
A |
G |
7: 143,395,105 (GRCm39) |
D113G |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,535,173 (GRCm39) |
S2696A |
probably benign |
Het |
| Dnajc12 |
A |
G |
10: 63,233,023 (GRCm39) |
T55A |
probably benign |
Het |
| Drosha |
G |
A |
15: 12,912,606 (GRCm39) |
E1075K |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,117,602 (GRCm39) |
S911P |
possibly damaging |
Het |
| Ephb2 |
G |
A |
4: 136,421,369 (GRCm39) |
A327V |
possibly damaging |
Het |
| Espl1 |
C |
T |
15: 102,228,878 (GRCm39) |
T1711I |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,748,219 (GRCm39) |
K22R |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,894,358 (GRCm39) |
F175L |
probably damaging |
Het |
| Gm6526 |
A |
G |
14: 43,986,303 (GRCm39) |
I76M |
probably damaging |
Het |
| Gm9881 |
A |
T |
16: 90,967,623 (GRCm39) |
F34I |
unknown |
Het |
| Gm9892 |
T |
C |
8: 52,649,649 (GRCm39) |
D148G |
possibly damaging |
Het |
| Grb10 |
C |
T |
11: 11,884,249 (GRCm39) |
V486I |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2bc18 |
G |
T |
3: 96,177,388 (GRCm39) |
L107F |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,957,690 (GRCm39) |
H108R |
possibly damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,648,303 (GRCm39) |
T661I |
probably benign |
Het |
| Icam1 |
T |
A |
9: 20,939,172 (GRCm39) |
I515N |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,523,220 (GRCm39) |
R497G |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,226,188 (GRCm39) |
V2495E |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,383,759 (GRCm39) |
M1102V |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,874,873 (GRCm39) |
N410I |
probably benign |
Het |
| Jup |
T |
C |
11: 100,270,427 (GRCm39) |
H360R |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,951,896 (GRCm39) |
S1685T |
possibly damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,794 (GRCm39) |
|
probably null |
Het |
| Lrig1 |
T |
A |
6: 94,584,294 (GRCm39) |
T917S |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,169,152 (GRCm39) |
S814P |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,909,027 (GRCm39) |
T483A |
probably damaging |
Het |
| Mcpt1 |
T |
C |
14: 56,256,990 (GRCm39) |
M176T |
probably benign |
Het |
| Mettl22 |
A |
G |
16: 8,291,825 (GRCm39) |
Q38R |
probably damaging |
Het |
| Mrm2 |
T |
C |
5: 140,314,443 (GRCm39) |
T131A |
probably benign |
Het |
| Mtcl2 |
A |
T |
2: 156,862,368 (GRCm39) |
Y1520* |
probably null |
Het |
| Nde1 |
T |
G |
16: 14,003,728 (GRCm39) |
F71V |
probably benign |
Het |
| Nxn |
C |
T |
11: 76,154,013 (GRCm39) |
G274D |
possibly damaging |
Het |
| Or4c123 |
A |
T |
2: 89,127,250 (GRCm39) |
Y121* |
probably null |
Het |
| Or5h17 |
A |
T |
16: 58,820,275 (GRCm39) |
T76S |
probably benign |
Het |
| Or6k14 |
G |
T |
1: 173,927,315 (GRCm39) |
C97F |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,209 (GRCm39) |
W72R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,175 (GRCm39) |
|
probably null |
Het |
| Otud7a |
C |
A |
7: 63,404,377 (GRCm39) |
|
probably benign |
Het |
| Phf3 |
G |
A |
1: 30,845,021 (GRCm39) |
L1313F |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,207 (GRCm39) |
D1635E |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 112,996,198 (GRCm39) |
H171R |
probably damaging |
Het |
| Pofut1 |
A |
G |
2: 153,103,166 (GRCm39) |
M172V |
probably damaging |
Het |
| Prmt5 |
A |
G |
14: 54,746,372 (GRCm39) |
F580L |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,296 (GRCm39) |
L987Q |
probably damaging |
Het |
| Retnlb |
T |
A |
16: 48,639,028 (GRCm39) |
C76* |
probably null |
Het |
| Rnf38 |
T |
C |
4: 44,131,584 (GRCm39) |
N399S |
probably benign |
Het |
| Sbk1 |
A |
G |
7: 125,891,424 (GRCm39) |
E286G |
possibly damaging |
Het |
| Scin |
T |
A |
12: 40,127,501 (GRCm39) |
T430S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,387,885 (GRCm39) |
R37H |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,668,832 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stk32c |
C |
T |
7: 138,705,095 (GRCm39) |
R23Q |
probably damaging |
Het |
| Sult1d1 |
A |
G |
5: 87,712,598 (GRCm39) |
M82T |
probably benign |
Het |
| Tat |
T |
C |
8: 110,723,550 (GRCm39) |
L346P |
probably damaging |
Het |
| Tenm3 |
C |
A |
8: 48,763,660 (GRCm39) |
G789V |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,338,621 (GRCm39) |
S1203N |
probably benign |
Het |
| Tmem191 |
G |
A |
16: 17,095,826 (GRCm39) |
|
probably null |
Het |
| Tmem268 |
A |
G |
4: 63,498,575 (GRCm39) |
T239A |
probably damaging |
Het |
| Tmem82 |
A |
C |
4: 141,343,589 (GRCm39) |
L227R |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,557,376 (GRCm39) |
I29906N |
probably damaging |
Het |
| Txndc15 |
T |
C |
13: 55,869,387 (GRCm39) |
|
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,473,152 (GRCm39) |
I536V |
probably benign |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn2r102 |
A |
T |
17: 19,914,843 (GRCm39) |
I803F |
probably benign |
Het |
| Vmn2r6 |
G |
T |
3: 64,445,579 (GRCm39) |
Y715* |
probably null |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,618 (GRCm39) |
C25S |
probably damaging |
Het |
| Wdr38 |
A |
G |
2: 38,890,991 (GRCm39) |
T261A |
probably benign |
Het |
| Zfp653 |
T |
C |
9: 21,969,516 (GRCm39) |
E250G |
possibly 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 |
|
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'- ATCACCAGGTACAGAGCCCTTCAG -3'
(R):5'- CCTAAAGGATGTGACATCACGCAGC -3'
Sequencing Primer
(F):5'- AGCTTAGTCCCAAACAGTGGTTC -3'
(R):5'- ACGCAGCAAGGCGTTTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation