Incidental Mutation 'IGL01443:Plod3'
ID |
84304 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plod3
|
Ensembl Gene |
ENSMUSG00000004846 |
Gene Name |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 |
Synonyms |
LH3, lysyl hydroxylase 3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01443
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
137015873-137025500 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 137019075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 320
(R320H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004968]
[ENSMUST00000034953]
[ENSMUST00000085941]
[ENSMUST00000111090]
[ENSMUST00000111091]
[ENSMUST00000137272]
[ENSMUST00000156963]
|
AlphaFold |
Q9R0E1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004968
AA Change: R320H
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000004968 Gene: ENSMUSG00000004846 AA Change: R320H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
low complexity region
|
312 |
324 |
N/A |
INTRINSIC |
Blast:P4Hc
|
456 |
502 |
2e-8 |
BLAST |
P4Hc
|
567 |
740 |
1.43e-23 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000034953
|
SMART Domains |
Protein: ENSMUSP00000034953 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
112 |
141 |
6.3e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085941
|
SMART Domains |
Protein: ENSMUSP00000083103 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
113 |
142 |
3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102285
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111090
|
SMART Domains |
Protein: ENSMUSP00000106719 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
112 |
141 |
2.2e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111091
|
SMART Domains |
Protein: ENSMUSP00000106720 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
low complexity region
|
63 |
78 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
117 |
146 |
2.1e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144784
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129896
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151642
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127100
|
SMART Domains |
Protein: ENSMUSP00000123550 Gene: ENSMUSG00000004846
Domain | Start | End | E-Value | Type |
Blast:P4Hc
|
2 |
35 |
2e-11 |
BLAST |
P4Hc
|
38 |
200 |
3.04e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137272
|
SMART Domains |
Protein: ENSMUSP00000120331 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
31 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156963
|
SMART Domains |
Protein: ENSMUSP00000115929 Gene: ENSMUSG00000059518
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
low complexity region
|
58 |
73 |
N/A |
INTRINSIC |
Pfam:zf-HIT
|
112 |
141 |
6.7e-13 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice display embryonic lethality, reduced embryonic growth, fragility, and fragmented basement membranes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts2 |
A |
G |
11: 50,694,690 (GRCm39) |
E1159G |
possibly damaging |
Het |
Adgrl3 |
A |
G |
5: 81,613,134 (GRCm39) |
Y189C |
probably damaging |
Het |
AW554918 |
G |
A |
18: 25,478,012 (GRCm39) |
G446R |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,464,121 (GRCm39) |
F884S |
possibly damaging |
Het |
Cd101 |
T |
C |
3: 100,910,887 (GRCm39) |
T924A |
probably benign |
Het |
Cdk12 |
T |
A |
11: 98,136,295 (GRCm39) |
V1183E |
unknown |
Het |
Clcc1 |
T |
C |
3: 108,578,219 (GRCm39) |
M240T |
probably benign |
Het |
Dnmbp |
C |
A |
19: 43,891,309 (GRCm39) |
A153S |
probably damaging |
Het |
Dus4l |
T |
C |
12: 31,702,409 (GRCm39) |
|
probably benign |
Het |
Dyrk1a |
A |
G |
16: 94,485,943 (GRCm39) |
E430G |
probably benign |
Het |
Erc1 |
T |
C |
6: 119,801,432 (GRCm39) |
K195R |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,113,280 (GRCm39) |
E1470G |
probably damaging |
Het |
Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
Fam135b |
A |
T |
15: 71,335,213 (GRCm39) |
H660Q |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,493,613 (GRCm39) |
G3920S |
probably damaging |
Het |
Fbxo38 |
A |
G |
18: 62,666,741 (GRCm39) |
V144A |
probably damaging |
Het |
Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
Hdlbp |
T |
C |
1: 93,358,796 (GRCm39) |
T252A |
probably damaging |
Het |
Igkv3-1 |
A |
G |
6: 70,681,088 (GRCm39) |
S96G |
possibly damaging |
Het |
Igkv4-68 |
G |
T |
6: 69,281,921 (GRCm39) |
F83L |
probably damaging |
Het |
Klhl31 |
T |
C |
9: 77,557,542 (GRCm39) |
V86A |
possibly damaging |
Het |
Lypd3 |
G |
A |
7: 24,336,063 (GRCm39) |
G17R |
probably benign |
Het |
Manba |
T |
A |
3: 135,250,589 (GRCm39) |
D405E |
probably damaging |
Het |
Map3k19 |
A |
G |
1: 127,766,244 (GRCm39) |
S227P |
probably benign |
Het |
Nras |
T |
A |
3: 102,969,751 (GRCm39) |
C118S |
probably benign |
Het |
Or52n20 |
A |
G |
7: 104,320,278 (GRCm39) |
D123G |
probably damaging |
Het |
Pde8a |
T |
C |
7: 80,973,929 (GRCm39) |
F629L |
probably damaging |
Het |
Phtf2 |
A |
G |
5: 20,987,265 (GRCm39) |
|
probably benign |
Het |
Pik3c2a |
A |
T |
7: 116,017,429 (GRCm39) |
F109L |
probably benign |
Het |
Ppib |
T |
C |
9: 65,972,879 (GRCm39) |
F152L |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,281,503 (GRCm39) |
|
probably benign |
Het |
Rgs12 |
T |
A |
5: 35,132,563 (GRCm39) |
S628R |
probably benign |
Het |
Ripk1 |
A |
G |
13: 34,199,251 (GRCm39) |
D201G |
probably damaging |
Het |
Speer4c2 |
A |
G |
5: 15,857,642 (GRCm39) |
*212Q |
probably null |
Het |
St14 |
G |
T |
9: 31,011,489 (GRCm39) |
S434* |
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,966,560 (GRCm39) |
D387G |
probably damaging |
Het |
Trio |
A |
G |
15: 27,838,861 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,544,215 (GRCm39) |
R32924C |
probably damaging |
Het |
Vmn1r181 |
T |
C |
7: 23,684,006 (GRCm39) |
V157A |
possibly damaging |
Het |
Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
Other mutations in Plod3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00507:Plod3
|
APN |
5 |
137,025,030 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL01090:Plod3
|
APN |
5 |
137,019,090 (GRCm39) |
missense |
probably benign |
0.37 |
IGL01583:Plod3
|
APN |
5 |
137,025,002 (GRCm39) |
missense |
probably benign |
0.02 |
R0544:Plod3
|
UTSW |
5 |
137,020,465 (GRCm39) |
missense |
probably benign |
0.09 |
R0747:Plod3
|
UTSW |
5 |
137,017,049 (GRCm39) |
missense |
probably benign |
0.34 |
R0764:Plod3
|
UTSW |
5 |
137,018,437 (GRCm39) |
unclassified |
probably benign |
|
R1520:Plod3
|
UTSW |
5 |
137,020,165 (GRCm39) |
missense |
probably damaging |
0.99 |
R1631:Plod3
|
UTSW |
5 |
137,017,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Plod3
|
UTSW |
5 |
137,019,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1767:Plod3
|
UTSW |
5 |
137,019,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1984:Plod3
|
UTSW |
5 |
137,019,707 (GRCm39) |
splice site |
probably null |
|
R1985:Plod3
|
UTSW |
5 |
137,019,707 (GRCm39) |
splice site |
probably null |
|
R2137:Plod3
|
UTSW |
5 |
137,017,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2148:Plod3
|
UTSW |
5 |
137,016,627 (GRCm39) |
nonsense |
probably null |
|
R2179:Plod3
|
UTSW |
5 |
137,019,862 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2318:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2319:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2512:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2513:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2696:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2891:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R2893:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R3030:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R3439:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R3957:Plod3
|
UTSW |
5 |
137,023,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4081:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4342:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4344:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4345:Plod3
|
UTSW |
5 |
137,017,000 (GRCm39) |
missense |
probably benign |
0.38 |
R4546:Plod3
|
UTSW |
5 |
137,017,801 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4799:Plod3
|
UTSW |
5 |
137,019,654 (GRCm39) |
missense |
probably benign |
0.00 |
R4843:Plod3
|
UTSW |
5 |
137,019,854 (GRCm39) |
nonsense |
probably null |
|
R4956:Plod3
|
UTSW |
5 |
137,018,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5159:Plod3
|
UTSW |
5 |
137,023,932 (GRCm39) |
intron |
probably benign |
|
R5162:Plod3
|
UTSW |
5 |
137,020,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5328:Plod3
|
UTSW |
5 |
137,018,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R5427:Plod3
|
UTSW |
5 |
137,020,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R6627:Plod3
|
UTSW |
5 |
137,017,310 (GRCm39) |
missense |
probably damaging |
0.99 |
R7003:Plod3
|
UTSW |
5 |
137,018,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R7132:Plod3
|
UTSW |
5 |
137,023,971 (GRCm39) |
missense |
|
|
R7376:Plod3
|
UTSW |
5 |
137,019,335 (GRCm39) |
missense |
probably benign |
0.00 |
R7404:Plod3
|
UTSW |
5 |
137,023,901 (GRCm39) |
missense |
probably benign |
|
R7827:Plod3
|
UTSW |
5 |
137,018,835 (GRCm39) |
missense |
probably benign |
|
R8062:Plod3
|
UTSW |
5 |
137,019,123 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8506:Plod3
|
UTSW |
5 |
137,017,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R8772:Plod3
|
UTSW |
5 |
137,017,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R9108:Plod3
|
UTSW |
5 |
137,018,017 (GRCm39) |
missense |
probably damaging |
0.99 |
R9439:Plod3
|
UTSW |
5 |
137,023,036 (GRCm39) |
missense |
probably benign |
0.03 |
R9788:Plod3
|
UTSW |
5 |
137,019,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |