Incidental Mutation 'R8201:Pdlim1'
| ID |
635693 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pdlim1
|
| Ensembl Gene |
ENSMUSG00000055044 |
| Gene Name |
PDZ and LIM domain 1 (elfin) |
| Synonyms |
mClim1, CLP36 |
| MMRRC Submission |
067624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8201 (G1)
|
| Quality Score |
209.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40210683-40260060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40218958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 224
(D224E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064545
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068439]
[ENSMUST00000182432]
|
| AlphaFold |
O70400 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068439
AA Change: D224E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
AA Change: D224E
| 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 benign
Transcript: ENSMUST00000182432
|
| SMART Domains |
Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
12 |
85 |
3.23e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,195,046 (GRCm39) |
E543G |
probably benign |
Het |
| 2210408I21Rik |
T |
A |
13: 77,341,278 (GRCm39) |
N302K |
possibly damaging |
Het |
| Apbb2 |
T |
C |
5: 66,466,458 (GRCm39) |
N609S |
probably benign |
Het |
| Atp10a |
G |
T |
7: 58,469,424 (GRCm39) |
G1092* |
probably null |
Het |
| Ccdc150 |
A |
G |
1: 54,368,646 (GRCm39) |
N618S |
probably benign |
Het |
| Cct4 |
T |
A |
11: 22,949,115 (GRCm39) |
V287E |
probably damaging |
Het |
| Cyp2j7 |
A |
T |
4: 96,083,564 (GRCm39) |
I462N |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,475,960 (GRCm39) |
A611V |
probably benign |
Het |
| Dusp10 |
C |
A |
1: 183,769,202 (GRCm39) |
A56E |
possibly damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,115 (GRCm39) |
V291A |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,908,773 (GRCm39) |
C2410G |
possibly damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,634 (GRCm39) |
Q274L |
possibly damaging |
Het |
| Fdxacb1 |
G |
T |
9: 50,681,455 (GRCm39) |
|
probably benign |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,060,373 (GRCm39) |
T159S |
probably damaging |
Het |
| Gm7168 |
T |
C |
17: 14,170,042 (GRCm39) |
C470R |
probably benign |
Het |
| Hebp1 |
A |
G |
6: 135,114,906 (GRCm39) |
V185A |
possibly damaging |
Het |
| Il18rap |
G |
T |
1: 40,578,429 (GRCm39) |
R280I |
possibly damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,456,093 (GRCm39) |
N771S |
probably damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,197 (GRCm39) |
N11D |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,908 (GRCm38) |
|
probably benign |
Het |
| Noct |
T |
C |
3: 51,155,444 (GRCm39) |
S135P |
probably benign |
Het |
| Or1e23 |
T |
A |
11: 73,407,899 (GRCm39) |
N42I |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,419,865 (GRCm39) |
*316R |
noncoding transcript |
Het |
| Or2w3b |
A |
C |
11: 58,623,940 (GRCm39) |
F17C |
probably damaging |
Het |
| Or7e177 |
G |
T |
9: 20,212,317 (GRCm39) |
G271C |
probably damaging |
Het |
| Or7e178 |
T |
C |
9: 20,225,908 (GRCm39) |
M103V |
probably benign |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,892 (GRCm39) |
H235L |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,651,518 (GRCm39) |
|
probably benign |
Het |
| Plpp3 |
G |
T |
4: 105,076,555 (GRCm39) |
G223W |
probably damaging |
Het |
| Rcan3 |
A |
G |
4: 135,147,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Sel1l2 |
A |
C |
2: 140,108,312 (GRCm39) |
Y191D |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,408,447 (GRCm39) |
F833L |
probably damaging |
Het |
| Tchh |
T |
C |
3: 93,350,781 (GRCm39) |
F74L |
probably damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,278,431 (GRCm39) |
D725G |
probably benign |
Het |
| Tmem14c |
C |
T |
13: 41,171,186 (GRCm39) |
P10S |
probably benign |
Het |
| Ubb |
G |
A |
11: 62,443,053 (GRCm39) |
A28T |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,969,202 (GRCm39) |
V833E |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,507,474 (GRCm39) |
D528G |
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 |
|
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 |
|
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'- ACAAGCGATCTGTACCTGAG -3'
(R):5'- TTCACCGTTGTCCTGATGGC -3'
Sequencing Primer
(F):5'- GCGATCTGTACCTGAGCCCTC -3'
(R):5'- GGCTTTCCAAATGTTCTTTTTAGCG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation