Incidental Mutation 'IGL02584:Pdlim1'
| ID |
299492 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdlim1
|
| Ensembl Gene |
ENSMUSG00000055044 |
| Gene Name |
PDZ and LIM domain 1 (elfin) |
| Synonyms |
mClim1, CLP36 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
40210683-40260060 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 40231844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068439]
[ENSMUST00000182432]
|
| AlphaFold |
O70400 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068439
|
| SMART Domains |
Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
| 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 |
probably null
Transcript: ENSMUST00000182432
|
| SMART Domains |
Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
3.23e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182636
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110057P08Rik |
A |
T |
16: 88,971,744 (GRCm39) |
Y22F |
unknown |
Het |
| Adgrb3 |
A |
G |
1: 25,544,065 (GRCm39) |
L312P |
probably damaging |
Het |
| Anpep |
T |
C |
7: 79,475,141 (GRCm39) |
|
probably benign |
Het |
| Arhgef6 |
T |
G |
X: 56,291,738 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,884,146 (GRCm39) |
D989G |
probably damaging |
Het |
| Ccnj |
T |
A |
19: 40,833,185 (GRCm39) |
V121E |
probably benign |
Het |
| Cdyl |
T |
C |
13: 35,867,769 (GRCm39) |
L15P |
probably benign |
Het |
| Cnrip1 |
T |
A |
11: 17,028,536 (GRCm39) |
M156K |
probably damaging |
Het |
| Cryga |
T |
A |
1: 65,142,175 (GRCm39) |
S73C |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,758,580 (GRCm39) |
T240A |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,387 (GRCm39) |
S1789P |
probably damaging |
Het |
| Esr2 |
A |
T |
12: 76,192,036 (GRCm39) |
W331R |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,764,769 (GRCm39) |
L455H |
probably benign |
Het |
| Gm21698 |
T |
A |
5: 26,192,391 (GRCm39) |
E65V |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,762,438 (GRCm39) |
F262L |
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,323,602 (GRCm39) |
L336* |
probably null |
Het |
| Hfm1 |
A |
C |
5: 107,026,528 (GRCm39) |
|
probably null |
Het |
| Hgfac |
T |
C |
5: 35,201,305 (GRCm39) |
|
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,942 (GRCm39) |
E101G |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,085,374 (GRCm39) |
E1027G |
probably damaging |
Het |
| Lypd5 |
A |
T |
7: 24,052,993 (GRCm39) |
T217S |
possibly damaging |
Het |
| Myrf |
A |
G |
19: 10,189,587 (GRCm39) |
|
probably benign |
Het |
| Mzf1 |
A |
G |
7: 12,786,744 (GRCm39) |
W109R |
probably damaging |
Het |
| Ndufb4 |
A |
T |
16: 37,469,532 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
A |
G |
11: 68,168,356 (GRCm39) |
V367A |
probably damaging |
Het |
| Oprk1 |
A |
G |
1: 5,668,827 (GRCm39) |
K91R |
probably damaging |
Het |
| Or5m11b |
C |
T |
2: 85,806,219 (GRCm39) |
L211F |
probably damaging |
Het |
| Ppp1r11 |
G |
A |
17: 37,260,781 (GRCm39) |
R61C |
probably damaging |
Het |
| Racgap1 |
T |
C |
15: 99,521,515 (GRCm39) |
D547G |
probably benign |
Het |
| Sema4b |
A |
G |
7: 79,874,736 (GRCm39) |
T709A |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Supt5 |
T |
C |
7: 28,025,592 (GRCm39) |
H218R |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,582,063 (GRCm39) |
I426N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,677,097 (GRCm39) |
N696S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,566,506 (GRCm39) |
N26383S |
possibly damaging |
Het |
| Vax2 |
A |
G |
6: 83,688,495 (GRCm39) |
T73A |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably 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 |
|
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 |
|
R2900:Pdlim1
|
UTSW |
19 |
40,211,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation