Incidental Mutation 'R2900:Pdlim1'
ID |
261454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pdlim1
|
Ensembl Gene |
ENSMUSG00000055044 |
Gene Name |
PDZ and LIM domain 1 (elfin) |
Synonyms |
mClim1, CLP36 |
MMRRC Submission |
040488-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2900 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
40210683-40260060 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 40211519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 258
(C258Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064545
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068439]
|
AlphaFold |
O70400 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068439
AA Change: C258Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064545 Gene: ENSMUSG00000055044 AA Change: C258Y
Domain | Start | End | E-Value | Type |
PDZ
|
12 |
85 |
3.23e-18 |
SMART |
Pfam:DUF4749
|
136 |
234 |
4.6e-29 |
PFAM |
LIM
|
257 |
308 |
2.31e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182813
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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 enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012] PHENOTYPE: Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
C |
T |
10: 41,300,751 (GRCm39) |
H1654Y |
unknown |
Het |
Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
Cmtm1 |
A |
G |
8: 105,036,176 (GRCm39) |
V151A |
possibly damaging |
Het |
Coro6 |
A |
G |
11: 77,358,639 (GRCm39) |
I233V |
probably benign |
Het |
Cyp26b1 |
C |
T |
6: 84,553,623 (GRCm39) |
R252H |
possibly damaging |
Het |
Dcdc2a |
C |
A |
13: 25,304,481 (GRCm39) |
D351E |
probably benign |
Het |
Flnc |
T |
C |
6: 29,448,584 (GRCm39) |
F1274S |
probably damaging |
Het |
Fut7 |
A |
G |
2: 25,313,923 (GRCm39) |
K33E |
probably benign |
Het |
Gpsm1 |
G |
T |
2: 26,235,174 (GRCm39) |
V480L |
probably benign |
Het |
Hoxc9 |
A |
T |
15: 102,890,185 (GRCm39) |
H34L |
probably benign |
Het |
Ighv1-4 |
A |
G |
12: 114,450,788 (GRCm39) |
S107P |
probably benign |
Het |
Itsn2 |
T |
C |
12: 4,680,713 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
T |
C |
14: 23,853,228 (GRCm39) |
T109A |
probably damaging |
Het |
Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
Ms4a6d |
C |
T |
19: 11,567,508 (GRCm39) |
G23D |
probably damaging |
Het |
Pan2 |
T |
A |
10: 128,144,211 (GRCm39) |
D135E |
probably benign |
Het |
Ppp6r2 |
C |
A |
15: 89,166,198 (GRCm39) |
P734H |
probably damaging |
Het |
Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
Stat5a |
G |
A |
11: 100,764,957 (GRCm39) |
V227M |
probably benign |
Het |
Strip2 |
A |
T |
6: 29,939,034 (GRCm39) |
|
probably null |
Het |
Syn2 |
C |
T |
6: 115,214,295 (GRCm39) |
T173I |
possibly damaging |
Het |
Thbd |
C |
A |
2: 148,248,134 (GRCm39) |
*578L |
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,754,786 (GRCm39) |
I286T |
probably benign |
Het |
Zfp566 |
T |
C |
7: 29,777,668 (GRCm39) |
D171G |
possibly damaging |
Het |
Zfp938 |
T |
C |
10: 82,061,340 (GRCm39) |
R427G |
possibly damaging |
Het |
|
Other mutations in Pdlim1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02027:Pdlim1
|
APN |
19 |
40,231,910 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02253:Pdlim1
|
APN |
19 |
40,218,974 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02312:Pdlim1
|
APN |
19 |
40,211,505 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02584:Pdlim1
|
APN |
19 |
40,231,844 (GRCm39) |
splice site |
probably null |
|
R0391:Pdlim1
|
UTSW |
19 |
40,232,017 (GRCm39) |
missense |
probably damaging |
0.99 |
R1554:Pdlim1
|
UTSW |
19 |
40,211,516 (GRCm39) |
missense |
probably benign |
0.19 |
R1751:Pdlim1
|
UTSW |
19 |
40,240,348 (GRCm39) |
splice site |
probably benign |
|
R1972:Pdlim1
|
UTSW |
19 |
40,211,581 (GRCm39) |
missense |
probably damaging |
0.99 |
R4709:Pdlim1
|
UTSW |
19 |
40,211,180 (GRCm39) |
missense |
probably benign |
0.26 |
R4803:Pdlim1
|
UTSW |
19 |
40,231,892 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4818:Pdlim1
|
UTSW |
19 |
40,211,580 (GRCm39) |
missense |
probably damaging |
0.98 |
R5360:Pdlim1
|
UTSW |
19 |
40,218,993 (GRCm39) |
missense |
probably damaging |
0.99 |
R5833:Pdlim1
|
UTSW |
19 |
40,218,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6547:Pdlim1
|
UTSW |
19 |
40,211,564 (GRCm39) |
missense |
probably damaging |
0.97 |
R7699:Pdlim1
|
UTSW |
19 |
40,238,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R7700:Pdlim1
|
UTSW |
19 |
40,238,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R7756:Pdlim1
|
UTSW |
19 |
40,231,986 (GRCm39) |
missense |
probably benign |
0.00 |
R7758:Pdlim1
|
UTSW |
19 |
40,231,986 (GRCm39) |
missense |
probably benign |
0.00 |
R7914:Pdlim1
|
UTSW |
19 |
40,240,445 (GRCm39) |
missense |
probably damaging |
0.98 |
R8201:Pdlim1
|
UTSW |
19 |
40,218,958 (GRCm39) |
missense |
probably benign |
|
R8331:Pdlim1
|
UTSW |
19 |
40,218,995 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9698:Pdlim1
|
UTSW |
19 |
40,218,959 (GRCm39) |
missense |
probably benign |
0.01 |
R9733:Pdlim1
|
UTSW |
19 |
40,219,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTCAGAGGCCCTACAGCAG -3'
(R):5'- CACAGGTGGTTCTGAGAGAG -3'
Sequencing Primer
(F):5'- TGAATGGGAAGACTCGTCATTC -3'
(R):5'- TTCTGAGAGAGCCCAGTAATACTG -3'
|
Posted On |
2015-01-23 |