Incidental Mutation 'IGL00767:Pdlim3'
| ID |
12967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdlim3
|
| Ensembl Gene |
ENSMUSG00000031636 |
| Gene Name |
PDZ and LIM domain 3 |
| Synonyms |
ALP |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.702)
|
| Stock # |
IGL00767
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46338498-46372585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46349827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 46
(G46R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034053]
[ENSMUST00000210422]
|
| AlphaFold |
O70209 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034053
AA Change: G46R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034053
Gene: ENSMUSG00000031636
AA Change: G46R
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
11 |
84 |
3.86e-16 |
SMART |
|
ZM
|
137 |
162 |
5.55e-11 |
SMART |
|
LIM
|
245 |
296 |
3.73e-14 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210422
AA Change: G46R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211190
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a knock-out allele show no major defects in skeletal muscle. However, homozygotes for another knock-out allele show partial background-sensitive prenatal lethality, embryonic right ventricular (RV) dilation and dysplasia, hypotrabeculation, and RV cardiomyopathy in surviving adults. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
C |
7: 79,490,638 (GRCm39) |
S293A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,824,701 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,215,353 (GRCm39) |
T657S |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,280,546 (GRCm39) |
I554V |
possibly damaging |
Het |
| Mindy2 |
A |
G |
9: 70,541,285 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 69,006,119 (GRCm39) |
T268A |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,385 (GRCm39) |
T269A |
probably benign |
Het |
| Nt5dc3 |
T |
A |
10: 86,656,137 (GRCm39) |
|
probably benign |
Het |
| Osgin2 |
G |
A |
4: 16,006,377 (GRCm39) |
H106Y |
probably damaging |
Het |
| Pdpk1 |
T |
G |
17: 24,325,835 (GRCm39) |
K147N |
possibly damaging |
Het |
| Pfkfb3 |
T |
C |
2: 11,493,565 (GRCm39) |
D137G |
probably damaging |
Het |
| Polg |
G |
A |
7: 79,101,673 (GRCm39) |
P1048S |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,880,432 (GRCm39) |
I97K |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,236,248 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
G |
T |
1: 107,463,807 (GRCm39) |
V30F |
possibly damaging |
Het |
| Stk17b |
A |
G |
1: 53,803,182 (GRCm39) |
|
probably benign |
Het |
| Tll1 |
G |
A |
8: 64,524,355 (GRCm39) |
R444C |
probably damaging |
Het |
| Ttbk2 |
A |
G |
2: 120,576,226 (GRCm39) |
V848A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,716,017 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pdlim3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Pdlim3
|
APN |
8 |
46,368,277 (GRCm39) |
missense |
probably benign |
|
|
IGL02189:Pdlim3
|
APN |
8 |
46,338,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02834:Pdlim3
|
APN |
8 |
46,370,569 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03165:Pdlim3
|
APN |
8 |
46,372,035 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
C9142:Pdlim3
|
UTSW |
8 |
46,349,869 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0244:Pdlim3
|
UTSW |
8 |
46,361,497 (GRCm39) |
intron |
probably benign |
|
|
R0369:Pdlim3
|
UTSW |
8 |
46,370,543 (GRCm39) |
missense |
probably benign |
|
|
R1052:Pdlim3
|
UTSW |
8 |
46,349,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1142:Pdlim3
|
UTSW |
8 |
46,371,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1531:Pdlim3
|
UTSW |
8 |
46,349,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1607:Pdlim3
|
UTSW |
8 |
46,349,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Pdlim3
|
UTSW |
8 |
46,349,785 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5641:Pdlim3
|
UTSW |
8 |
46,368,300 (GRCm39) |
splice site |
probably null |
|
|
R5731:Pdlim3
|
UTSW |
8 |
46,368,284 (GRCm39) |
missense |
probably benign |
|
|
R6501:Pdlim3
|
UTSW |
8 |
46,361,639 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7111:Pdlim3
|
UTSW |
8 |
46,370,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7637:Pdlim3
|
UTSW |
8 |
46,362,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Pdlim3
|
UTSW |
8 |
46,361,576 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8223:Pdlim3
|
UTSW |
8 |
46,353,562 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8380:Pdlim3
|
UTSW |
8 |
46,370,572 (GRCm39) |
missense |
probably benign |
|
|
R9163:Pdlim3
|
UTSW |
8 |
46,338,711 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9673:Pdlim3
|
UTSW |
8 |
46,368,195 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1177:Pdlim3
|
UTSW |
8 |
46,372,021 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pdlim3
|
UTSW |
8 |
46,362,117 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Z1177:Pdlim3
|
UTSW |
8 |
46,362,116 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2012-12-06 |
Incidental Mutation