Incidental Mutation 'IGL01153:Lims2'
| ID |
53212 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lims2
|
| Ensembl Gene |
ENSMUSG00000024395 |
| Gene Name |
LIM and senescent cell antigen like domains 2 |
| Synonyms |
PINCH2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
32055346-32091673 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 32090370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025254]
[ENSMUST00000025254]
[ENSMUST00000134663]
[ENSMUST00000223753]
[ENSMUST00000223753]
[ENSMUST00000224328]
[ENSMUST00000224328]
[ENSMUST00000224383]
[ENSMUST00000225404]
|
| AlphaFold |
Q91XD2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025254
|
| SMART Domains |
Protein: ENSMUSP00000025254
Gene: ENSMUSG00000024395
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
14 |
67 |
1.15e-14 |
SMART |
|
LIM
|
75 |
126 |
2.74e-12 |
SMART |
|
LIM
|
139 |
189 |
3.87e-12 |
SMART |
|
LIM
|
197 |
248 |
4.31e-19 |
SMART |
|
LIM
|
256 |
308 |
2.67e-15 |
SMART |
|
low complexity region
|
314 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000025254
|
| SMART Domains |
Protein: ENSMUSP00000025254
Gene: ENSMUSG00000024395
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
14 |
67 |
1.15e-14 |
SMART |
|
LIM
|
75 |
126 |
2.74e-12 |
SMART |
|
LIM
|
139 |
189 |
3.87e-12 |
SMART |
|
LIM
|
197 |
248 |
4.31e-19 |
SMART |
|
LIM
|
256 |
308 |
2.67e-15 |
SMART |
|
low complexity region
|
314 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134663
|
| SMART Domains |
Protein: ENSMUSP00000118046
Gene: ENSMUSG00000024388
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
59 |
761 |
N/A |
SMART |
|
IQ
|
762 |
784 |
1.07e-1 |
SMART |
|
IQ
|
785 |
807 |
7.01e-6 |
SMART |
|
IQ
|
831 |
853 |
4.93e-1 |
SMART |
|
IQ
|
854 |
876 |
1.63e-1 |
SMART |
|
MyTH4
|
989 |
1189 |
1.14e-71 |
SMART |
|
B41
|
1190 |
1409 |
3.66e-16 |
SMART |
|
SH3
|
1501 |
1563 |
3.25e-7 |
SMART |
|
MyTH4
|
1641 |
1790 |
7.66e-55 |
SMART |
|
B41
|
1792 |
2009 |
8.19e-28 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223753
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223753
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224328
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225404
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225470
|
| Coding Region Coverage |
|
| 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 a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Homozygous null mice are viable and fertile with no gross abnormalities. Mice homozygous for a different targeted allele exhibit decreased fractional shortening and increased area affected following myocardial infarct. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,247 (GRCm39) |
I5309V |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,349,724 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,106,229 (GRCm39) |
V81E |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,924,649 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,985,502 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
C |
T |
7: 44,616,092 (GRCm39) |
E307K |
probably damaging |
Het |
| Cyth2 |
T |
C |
7: 45,457,813 (GRCm39) |
Y120C |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,681,430 (GRCm39) |
D69E |
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,544 (GRCm39) |
M215K |
possibly damaging |
Het |
| Enox2 |
C |
A |
X: 48,151,015 (GRCm39) |
|
probably null |
Het |
| Fam120c |
T |
C |
X: 150,182,801 (GRCm39) |
|
probably null |
Het |
| Fam149b |
A |
G |
14: 20,427,949 (GRCm39) |
T319A |
possibly damaging |
Het |
| Fndc1 |
A |
T |
17: 7,998,874 (GRCm39) |
|
probably null |
Het |
| Gcsh |
T |
A |
8: 117,710,549 (GRCm39) |
D138V |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,837,321 (GRCm39) |
H331Q |
probably benign |
Het |
| Iars1 |
A |
G |
13: 49,865,281 (GRCm39) |
N586D |
probably damaging |
Het |
| Idh3g |
A |
G |
X: 72,823,668 (GRCm39) |
V280A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,550 (GRCm39) |
S115P |
probably damaging |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Mael |
T |
C |
1: 166,029,919 (GRCm39) |
K334E |
possibly damaging |
Het |
| Me3 |
A |
C |
7: 89,498,844 (GRCm39) |
T475P |
probably damaging |
Het |
| Mrpl18 |
A |
G |
17: 13,134,693 (GRCm39) |
L24P |
possibly damaging |
Het |
| Nol4 |
C |
A |
18: 22,902,850 (GRCm39) |
R460L |
probably damaging |
Het |
| Numa1 |
A |
T |
7: 101,643,951 (GRCm39) |
E181V |
probably damaging |
Het |
| Or6c2 |
T |
A |
10: 129,362,864 (GRCm39) |
I256N |
probably damaging |
Het |
| Pex2 |
A |
T |
3: 5,626,424 (GRCm39) |
H128Q |
probably benign |
Het |
| Pex3 |
A |
T |
10: 13,428,597 (GRCm39) |
|
probably null |
Het |
| Psmb8 |
A |
G |
17: 34,420,215 (GRCm39) |
Y269C |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,615,096 (GRCm39) |
K62R |
probably benign |
Het |
| Strn4 |
G |
A |
7: 16,571,846 (GRCm39) |
G613D |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,470,204 (GRCm39) |
W875R |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,845,451 (GRCm39) |
D149G |
possibly damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,992 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp768 |
A |
G |
7: 126,943,703 (GRCm39) |
Y145H |
possibly damaging |
Het |
| Zgrf1 |
G |
A |
3: 127,396,055 (GRCm39) |
G534R |
probably damaging |
Het |
|
| Other mutations in Lims2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0180:Lims2
|
UTSW |
18 |
32,089,368 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0268:Lims2
|
UTSW |
18 |
32,077,573 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0344:Lims2
|
UTSW |
18 |
32,077,573 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1920:Lims2
|
UTSW |
18 |
32,088,395 (GRCm39) |
nonsense |
probably null |
|
|
R2138:Lims2
|
UTSW |
18 |
32,088,460 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3415:Lims2
|
UTSW |
18 |
32,077,208 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3926:Lims2
|
UTSW |
18 |
32,090,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4273:Lims2
|
UTSW |
18 |
32,089,390 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4693:Lims2
|
UTSW |
18 |
32,077,552 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4893:Lims2
|
UTSW |
18 |
32,074,864 (GRCm39) |
splice site |
probably null |
|
|
R5599:Lims2
|
UTSW |
18 |
32,090,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6376:Lims2
|
UTSW |
18 |
32,087,515 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7202:Lims2
|
UTSW |
18 |
32,090,017 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7216:Lims2
|
UTSW |
18 |
32,090,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7848:Lims2
|
UTSW |
18 |
32,091,301 (GRCm39) |
makesense |
probably null |
|
|
R9234:Lims2
|
UTSW |
18 |
32,090,943 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0027:Lims2
|
UTSW |
18 |
32,087,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation