Incidental Mutation 'IGL01995:Pdzk1'
| ID |
183676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pdzk1
|
| Ensembl Gene |
ENSMUSG00000038298 |
| Gene Name |
PDZ domain containing 1 |
| Synonyms |
Nherf3, 4921513F16Rik, mPDZK1, 1700023D20Rik, 2610507N21Rik, D3Ertd537e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
IGL01995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96736772-96778242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 96764687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 324
(A324S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058865]
[ENSMUST00000107069]
[ENSMUST00000107070]
[ENSMUST00000153256]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058865
AA Change: A324S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000058936
Gene: ENSMUSG00000038298
AA Change: A324S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107069
AA Change: A324S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102684
Gene: ENSMUSG00000038298
AA Change: A324S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107070
AA Change: A324S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102685
Gene: ENSMUSG00000038298
AA Change: A324S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153256
AA Change: A324S
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118846
Gene: ENSMUSG00000038298
AA Change: A324S
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
18 |
90 |
2.41e-17 |
SMART |
|
PDZ
|
143 |
215 |
1e-14 |
SMART |
|
PDZ
|
251 |
323 |
2.81e-18 |
SMART |
|
PDZ
|
386 |
458 |
4.5e-17 |
SMART |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
| 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 PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503E14Rik |
T |
C |
14: 44,401,302 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
A |
17: 47,779,442 (GRCm39) |
|
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,807,977 (GRCm39) |
V1052I |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,577,862 (GRCm39) |
S1029P |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,898,226 (GRCm39) |
S7P |
probably damaging |
Het |
| Asf1b |
A |
G |
8: 84,682,533 (GRCm39) |
I26V |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,697,197 (GRCm39) |
L240P |
probably damaging |
Het |
| Cnmd |
A |
G |
14: 79,879,508 (GRCm39) |
|
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,180,846 (GRCm39) |
N783I |
probably damaging |
Het |
| Col6a2 |
C |
A |
10: 76,440,676 (GRCm39) |
|
probably benign |
Het |
| Col9a2 |
T |
C |
4: 120,907,607 (GRCm39) |
|
probably null |
Het |
| Cry2 |
T |
C |
2: 92,254,977 (GRCm39) |
E126G |
probably benign |
Het |
| Cxcl15 |
T |
C |
5: 90,942,467 (GRCm39) |
V13A |
possibly damaging |
Het |
| Dbr1 |
A |
G |
9: 99,465,952 (GRCm39) |
D510G |
probably benign |
Het |
| Dct |
A |
G |
14: 118,271,655 (GRCm39) |
F392L |
probably damaging |
Het |
| Dgkz |
A |
G |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dhrs7b |
A |
G |
11: 60,721,541 (GRCm39) |
I2V |
probably benign |
Het |
| Efnb3 |
A |
T |
11: 69,447,730 (GRCm39) |
|
probably null |
Het |
| Fbf1 |
T |
A |
11: 116,041,846 (GRCm39) |
R565S |
probably null |
Het |
| Gimap5 |
T |
C |
6: 48,729,727 (GRCm39) |
I99T |
probably damaging |
Het |
| Gm9912 |
A |
G |
3: 148,891,085 (GRCm39) |
L16P |
unknown |
Het |
| Gpr17 |
A |
G |
18: 32,080,187 (GRCm39) |
L292P |
probably damaging |
Het |
| Hdac10 |
C |
T |
15: 89,011,801 (GRCm39) |
V129M |
probably damaging |
Het |
| Mfap3l |
A |
G |
8: 61,124,498 (GRCm39) |
I247V |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,537,457 (GRCm39) |
S86R |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,085,890 (GRCm39) |
S55P |
possibly damaging |
Het |
| Nol6 |
A |
T |
4: 41,118,567 (GRCm39) |
C745S |
probably damaging |
Het |
| Nudt13 |
A |
T |
14: 20,356,385 (GRCm39) |
E103D |
probably damaging |
Het |
| Or10ag59 |
A |
G |
2: 87,405,806 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,261 (GRCm39) |
I19T |
possibly damaging |
Het |
| Pofut2 |
T |
C |
10: 77,096,515 (GRCm39) |
V80A |
possibly damaging |
Het |
| Rasip1 |
A |
G |
7: 45,286,240 (GRCm39) |
D821G |
probably damaging |
Het |
| Rnf10 |
T |
A |
5: 115,389,161 (GRCm39) |
K273* |
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,672,828 (GRCm39) |
M811V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,751,015 (GRCm39) |
D301G |
probably damaging |
Het |
| Tm9sf2 |
A |
T |
14: 122,380,883 (GRCm39) |
T159S |
probably benign |
Het |
| Tom1l1 |
G |
A |
11: 90,540,687 (GRCm39) |
P327S |
probably damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,689 (GRCm39) |
|
probably benign |
Het |
| Trpm6 |
A |
C |
19: 18,807,691 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
A |
C |
8: 125,415,621 (GRCm39) |
L245R |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,713,118 (GRCm39) |
V60E |
probably damaging |
Het |
| Ung |
T |
A |
5: 114,274,447 (GRCm39) |
D173E |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,995,294 (GRCm39) |
V30A |
probably damaging |
Het |
|
| Other mutations in Pdzk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00730:Pdzk1
|
APN |
3 |
96,775,742 (GRCm39) |
missense |
probably benign |
|
|
IGL01895:Pdzk1
|
APN |
3 |
96,776,417 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02027:Pdzk1
|
APN |
3 |
96,761,989 (GRCm39) |
splice site |
probably benign |
|
|
R1762:Pdzk1
|
UTSW |
3 |
96,758,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2044:Pdzk1
|
UTSW |
3 |
96,763,164 (GRCm39) |
splice site |
probably benign |
|
|
R4721:Pdzk1
|
UTSW |
3 |
96,776,518 (GRCm39) |
nonsense |
probably null |
|
|
R4831:Pdzk1
|
UTSW |
3 |
96,775,751 (GRCm39) |
missense |
probably benign |
|
|
R5070:Pdzk1
|
UTSW |
3 |
96,757,637 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6020:Pdzk1
|
UTSW |
3 |
96,775,742 (GRCm39) |
missense |
probably benign |
|
|
R6049:Pdzk1
|
UTSW |
3 |
96,758,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6816:Pdzk1
|
UTSW |
3 |
96,761,886 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7065:Pdzk1
|
UTSW |
3 |
96,775,748 (GRCm39) |
missense |
probably benign |
|
|
R7134:Pdzk1
|
UTSW |
3 |
96,763,246 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7779:Pdzk1
|
UTSW |
3 |
96,764,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8097:Pdzk1
|
UTSW |
3 |
96,757,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Pdzk1
|
UTSW |
3 |
96,759,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8450:Pdzk1
|
UTSW |
3 |
96,759,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8805:Pdzk1
|
UTSW |
3 |
96,758,910 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9448:Pdzk1
|
UTSW |
3 |
96,761,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Pdzk1
|
UTSW |
3 |
96,763,174 (GRCm39) |
missense |
|
|
|
Z1088:Pdzk1
|
UTSW |
3 |
96,761,873 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pdzk1
|
UTSW |
3 |
96,761,873 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pdzk1
|
UTSW |
3 |
96,761,873 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation