Incidental Mutation 'R9591:Ablim3'
| ID |
723024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ablim3
|
| Ensembl Gene |
ENSMUSG00000032735 |
| Gene Name |
actin binding LIM protein family, member 3 |
| Synonyms |
D930036B08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R9591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61954984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 335
(Y335C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049378]
[ENSMUST00000166783]
|
| AlphaFold |
Q69ZX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049378
AA Change: Y335C
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: Y335C
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
4.19e-8 |
SMART |
|
LIM
|
81 |
133 |
2.31e-10 |
SMART |
|
LIM
|
150 |
201 |
2.4e-17 |
SMART |
|
LIM
|
209 |
261 |
1.12e-8 |
SMART |
|
Pfam:AbLIM_anchor
|
273 |
646 |
6.5e-154 |
PFAM |
|
VHP
|
647 |
682 |
1.66e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166783
AA Change: Y335C
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: Y335C
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
22 |
73 |
4.19e-8 |
SMART |
|
LIM
|
81 |
133 |
2.31e-10 |
SMART |
|
LIM
|
150 |
201 |
2.4e-17 |
SMART |
|
LIM
|
209 |
261 |
1.12e-8 |
SMART |
|
Pfam:AbLIM_anchor
|
273 |
646 |
6.5e-154 |
PFAM |
|
VHP
|
647 |
682 |
1.66e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,488 (GRCm39) |
I486N |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,132,698 (GRCm39) |
D55E |
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,320,250 (GRCm39) |
*164Q |
probably null |
Het |
| Arhgap25 |
T |
C |
6: 87,440,102 (GRCm39) |
N515S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Btbd9 |
T |
C |
17: 30,736,222 (GRCm39) |
D297G |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,957,929 (GRCm39) |
M584K |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Ccdc116 |
T |
C |
16: 16,960,598 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,011,296 (GRCm39) |
V296A |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,114,357 (GRCm39) |
T133A |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,961,073 (GRCm39) |
H78N |
probably damaging |
Het |
| Dhrs11 |
T |
G |
11: 84,719,584 (GRCm39) |
N47T |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,288,336 (GRCm39) |
S396G |
probably benign |
Het |
| Gm3667 |
T |
C |
14: 18,270,388 (GRCm39) |
Y139C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,019,640 (GRCm39) |
N2137S |
probably damaging |
Het |
| Iapp |
T |
A |
6: 142,249,063 (GRCm39) |
C39S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,969 (GRCm39) |
E749G |
probably benign |
Het |
| Lpcat1 |
T |
G |
13: 73,659,471 (GRCm39) |
V411G |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,454,795 (GRCm39) |
E1398D |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,516 (GRCm39) |
T1821A |
unknown |
Het |
| Neu1 |
T |
C |
17: 35,150,474 (GRCm39) |
L31P |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,900,581 (GRCm39) |
T94A |
possibly damaging |
Het |
| Nlrc5 |
T |
G |
8: 95,249,309 (GRCm39) |
S1752R |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,378,926 (GRCm39) |
E242V |
probably damaging |
Het |
| Or51b6 |
A |
T |
7: 103,556,470 (GRCm39) |
I272F |
|
Het |
| Peak1 |
C |
A |
9: 56,166,834 (GRCm39) |
V365F |
possibly damaging |
Het |
| Rgl2 |
C |
T |
17: 34,151,451 (GRCm39) |
T165I |
possibly damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,847,309 (GRCm39) |
L632P |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,102 (GRCm39) |
T315M |
|
Het |
| Sipa1l2 |
A |
T |
8: 126,219,112 (GRCm39) |
M75K |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sprr2a3 |
T |
A |
3: 92,195,961 (GRCm39) |
C23S |
unknown |
Het |
| Tbck |
T |
A |
3: 132,400,195 (GRCm39) |
L82Q |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,897 (GRCm39) |
V277I |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,031,921 (GRCm39) |
E565V |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,315,737 (GRCm39) |
D230E |
|
Het |
|
| Other mutations in Ablim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Ablim3
|
APN |
18 |
61,982,477 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00954:Ablim3
|
APN |
18 |
61,972,756 (GRCm39) |
splice site |
probably benign |
|
|
IGL01012:Ablim3
|
APN |
18 |
61,972,772 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01402:Ablim3
|
APN |
18 |
62,004,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01404:Ablim3
|
APN |
18 |
62,004,754 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01609:Ablim3
|
APN |
18 |
61,955,092 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01710:Ablim3
|
APN |
18 |
62,004,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01775:Ablim3
|
APN |
18 |
61,949,989 (GRCm39) |
splice site |
probably benign |
|
|
IGL02967:Ablim3
|
APN |
18 |
61,959,574 (GRCm39) |
nonsense |
probably null |
|
|
IGL03409:Ablim3
|
APN |
18 |
61,978,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0143:Ablim3
|
UTSW |
18 |
61,988,288 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0601:Ablim3
|
UTSW |
18 |
61,982,441 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1067:Ablim3
|
UTSW |
18 |
61,957,018 (GRCm39) |
splice site |
probably benign |
|
|
R1642:Ablim3
|
UTSW |
18 |
61,947,382 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1851:Ablim3
|
UTSW |
18 |
61,982,466 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1852:Ablim3
|
UTSW |
18 |
61,982,466 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2072:Ablim3
|
UTSW |
18 |
61,990,159 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2763:Ablim3
|
UTSW |
18 |
61,946,615 (GRCm39) |
nonsense |
probably null |
|
|
R4865:Ablim3
|
UTSW |
18 |
61,938,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Ablim3
|
UTSW |
18 |
61,952,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5353:Ablim3
|
UTSW |
18 |
61,934,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5442:Ablim3
|
UTSW |
18 |
61,990,296 (GRCm39) |
splice site |
probably null |
|
|
R5835:Ablim3
|
UTSW |
18 |
61,956,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Ablim3
|
UTSW |
18 |
61,957,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7231:Ablim3
|
UTSW |
18 |
61,938,135 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7386:Ablim3
|
UTSW |
18 |
61,955,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7404:Ablim3
|
UTSW |
18 |
61,955,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7529:Ablim3
|
UTSW |
18 |
61,955,039 (GRCm39) |
missense |
probably benign |
|
|
R8979:Ablim3
|
UTSW |
18 |
61,982,397 (GRCm39) |
missense |
probably benign |
|
|
R9037:Ablim3
|
UTSW |
18 |
61,952,066 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9095:Ablim3
|
UTSW |
18 |
61,953,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9250:Ablim3
|
UTSW |
18 |
61,944,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9320:Ablim3
|
UTSW |
18 |
61,972,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9454:Ablim3
|
UTSW |
18 |
61,952,067 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9457:Ablim3
|
UTSW |
18 |
61,978,920 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9761:Ablim3
|
UTSW |
18 |
61,952,885 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
X0028:Ablim3
|
UTSW |
18 |
61,938,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGGCATACACATTTAATGC -3'
(R):5'- TCTTAGTAGAACCTGGAGCCCC -3'
Sequencing Primer
(F):5'- CCAGATTTTTGGACGAGAGCTC -3'
(R):5'- GCCCCTTGCTTCTGTTTCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation