Incidental Mutation 'R9761:Ablim3'
| ID |
733033 |
| 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 # |
R9761 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
61932463-62044895 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 61952885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 393
(R393L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049378]
[ENSMUST00000166783]
|
| AlphaFold |
Q69ZX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049378
AA Change: R393L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000041243
Gene: ENSMUSG00000032735
AA Change: R393L
| 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 |
possibly damaging
Transcript: ENSMUST00000166783
AA Change: R393L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125836
Gene: ENSMUSG00000032735
AA Change: R393L
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
G |
A |
6: 142,544,854 (GRCm39) |
T1411I |
possibly damaging |
Het |
| Akap3 |
A |
G |
6: 126,842,200 (GRCm39) |
D273G |
probably benign |
Het |
| Ankrd35 |
C |
T |
3: 96,591,733 (GRCm39) |
T673I |
possibly damaging |
Het |
| Atp11b |
A |
T |
3: 35,903,607 (GRCm39) |
K1114* |
probably null |
Het |
| Atp11b |
C |
T |
3: 35,903,621 (GRCm39) |
P947L |
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,903,616 (GRCm39) |
D1117Y |
probably damaging |
Het |
| Cfap74 |
C |
A |
4: 155,550,844 (GRCm39) |
H243Q |
unknown |
Het |
| Dgkh |
A |
T |
14: 78,889,163 (GRCm39) |
S111R |
probably damaging |
Het |
| Dpp6 |
G |
A |
5: 27,869,743 (GRCm39) |
R505K |
probably benign |
Het |
| Elp4 |
C |
T |
2: 105,624,904 (GRCm39) |
G330S |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,821,994 (GRCm39) |
N5909I |
probably benign |
Het |
| Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,729,064 (GRCm39) |
M792V |
probably benign |
Het |
| Gpr152 |
T |
C |
19: 4,193,227 (GRCm39) |
L256P |
probably damaging |
Het |
| Greb1 |
C |
T |
12: 16,751,275 (GRCm39) |
M1006I |
probably benign |
Het |
| Gzf1 |
C |
T |
2: 148,530,011 (GRCm39) |
S514L |
probably damaging |
Het |
| Helz |
C |
A |
11: 107,560,874 (GRCm39) |
S1312* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,868,625 (GRCm39) |
I60V |
probably damaging |
Het |
| Ift81 |
A |
C |
5: 122,729,146 (GRCm39) |
D395E |
probably benign |
Het |
| Itfg1 |
T |
C |
8: 86,563,031 (GRCm39) |
N123S |
probably benign |
Het |
| Klk1b1 |
C |
A |
7: 43,618,739 (GRCm39) |
H39N |
possibly damaging |
Het |
| Klk1b24 |
A |
T |
7: 43,839,779 (GRCm39) |
N46I |
possibly damaging |
Het |
| Klrg2 |
C |
A |
6: 38,607,287 (GRCm39) |
W241L |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,774,934 (GRCm39) |
N3S |
probably benign |
Het |
| Lrrc2 |
A |
G |
9: 110,809,942 (GRCm39) |
D326G |
possibly damaging |
Het |
| Mansc1 |
A |
T |
6: 134,587,004 (GRCm39) |
L391Q |
probably damaging |
Het |
| Mcidas |
G |
A |
13: 113,135,453 (GRCm39) |
R292H |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,119,754 (GRCm39) |
T59A |
probably benign |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Or12d13 |
T |
A |
17: 37,648,057 (GRCm39) |
Q22L |
possibly damaging |
Het |
| Or14j7 |
T |
C |
17: 38,234,934 (GRCm39) |
F159S |
probably benign |
Het |
| Or4f53 |
C |
A |
2: 111,087,606 (GRCm39) |
L49I |
probably benign |
Het |
| Or4f53 |
T |
G |
2: 111,087,607 (GRCm39) |
L49R |
possibly damaging |
Het |
| Or8g26 |
T |
C |
9: 39,096,146 (GRCm39) |
I221T |
probably damaging |
Het |
| Or8k20 |
C |
T |
2: 86,106,150 (GRCm39) |
R227Q |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Poc1b |
C |
T |
10: 98,965,356 (GRCm39) |
S95F |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,049,998 (GRCm39) |
I104V |
unknown |
Het |
| Prkar1b |
C |
A |
5: 139,092,410 (GRCm39) |
V136L |
probably benign |
Het |
| Scn2a |
A |
G |
2: 65,566,030 (GRCm39) |
I1351M |
probably damaging |
Het |
| Serpina3c |
G |
T |
12: 104,118,089 (GRCm39) |
A83D |
probably damaging |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,318,190 (GRCm39) |
|
probably null |
Het |
| Ticrr |
A |
G |
7: 79,345,313 (GRCm39) |
E1726G |
probably damaging |
Het |
| Tmprss12 |
T |
C |
15: 100,190,529 (GRCm39) |
W300R |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,623,136 (GRCm39) |
H892Q |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,903,987 (GRCm39) |
T1043A |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,519,218 (GRCm39) |
V100D |
probably damaging |
Het |
| Zim1 |
G |
C |
7: 6,680,771 (GRCm39) |
H297Q |
probably damaging |
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 |
|
R9591:Ablim3
|
UTSW |
18 |
61,954,984 (GRCm39) |
missense |
probably benign |
0.15 |
|
X0028:Ablim3
|
UTSW |
18 |
61,938,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTGTCAAAGACCCATCTTAGG -3'
(R):5'- ACTCCATAGCATGCTTTACCTGAC -3'
Sequencing Primer
(F):5'- CATCTTAGGGACTCAGTAAGGGCC -3'
(R):5'- CATCTATGAGAACCTGGACC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation