Incidental Mutation 'IGL01144:Plod1'
ID |
50979 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plod1
|
Ensembl Gene |
ENSMUSG00000019055 |
Gene Name |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
Synonyms |
2410042F05Rik, LH1, lysyl hydroxylase 1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01144
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
147994210-148021224 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 148017211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 49
(Q49K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019199]
[ENSMUST00000105712]
|
AlphaFold |
Q9R0E2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019199
AA Change: Q49K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019199 Gene: ENSMUSG00000019055 AA Change: Q49K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
Blast:P4Hc
|
444 |
492 |
1e-8 |
BLAST |
P4Hc
|
554 |
727 |
4.87e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105712
AA Change: Q49K
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000101337 Gene: ENSMUSG00000019055 AA Change: Q49K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124292
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132075
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the 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 VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cox19 |
T |
C |
5: 139,330,881 (GRCm39) |
K10E |
probably damaging |
Het |
Ddx21 |
T |
A |
10: 62,434,329 (GRCm39) |
K143N |
unknown |
Het |
Dnajb13 |
T |
C |
7: 100,152,431 (GRCm39) |
D295G |
possibly damaging |
Het |
Gm14496 |
A |
G |
2: 181,636,814 (GRCm39) |
N91D |
probably damaging |
Het |
Kidins220 |
T |
C |
12: 25,060,925 (GRCm39) |
I801T |
probably damaging |
Het |
Nexmif |
A |
G |
X: 103,127,559 (GRCm39) |
S1453P |
possibly damaging |
Het |
Nobox |
A |
G |
6: 43,280,935 (GRCm39) |
V513A |
possibly damaging |
Het |
Phactr1 |
G |
A |
13: 43,191,000 (GRCm39) |
D157N |
possibly damaging |
Het |
Ppp1r10 |
C |
T |
17: 36,237,456 (GRCm39) |
R209C |
probably benign |
Het |
Prr12 |
T |
C |
7: 44,696,882 (GRCm39) |
E1011G |
unknown |
Het |
Rab27a |
G |
A |
9: 72,982,850 (GRCm39) |
|
probably null |
Het |
Rbbp6 |
T |
A |
7: 122,575,169 (GRCm39) |
D59E |
possibly damaging |
Het |
Sbf2 |
G |
T |
7: 109,929,110 (GRCm39) |
T1432K |
probably damaging |
Het |
Sorbs3 |
A |
C |
14: 70,429,017 (GRCm39) |
S383A |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,014,829 (GRCm39) |
D436E |
probably benign |
Het |
Tbc1d4 |
A |
T |
14: 101,682,099 (GRCm39) |
Y1266N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,551,173 (GRCm39) |
Y29660* |
probably null |
Het |
Ubr2 |
A |
G |
17: 47,268,247 (GRCm39) |
I989T |
probably damaging |
Het |
Zkscan14 |
G |
T |
5: 145,132,806 (GRCm39) |
R242S |
probably benign |
Het |
|
Other mutations in Plod1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02312:Plod1
|
APN |
4 |
148,010,614 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02588:Plod1
|
APN |
4 |
147,997,747 (GRCm39) |
nonsense |
probably null |
|
IGL02712:Plod1
|
APN |
4 |
148,003,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02976:Plod1
|
APN |
4 |
147,997,778 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03244:Plod1
|
APN |
4 |
148,007,580 (GRCm39) |
critical splice donor site |
probably null |
|
R0393:Plod1
|
UTSW |
4 |
148,003,298 (GRCm39) |
missense |
probably null |
0.35 |
R1216:Plod1
|
UTSW |
4 |
148,005,584 (GRCm39) |
missense |
probably damaging |
0.98 |
R1897:Plod1
|
UTSW |
4 |
148,010,657 (GRCm39) |
missense |
probably damaging |
0.97 |
R3776:Plod1
|
UTSW |
4 |
148,015,734 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3923:Plod1
|
UTSW |
4 |
148,000,280 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4718:Plod1
|
UTSW |
4 |
148,000,701 (GRCm39) |
intron |
probably benign |
|
R4897:Plod1
|
UTSW |
4 |
148,004,736 (GRCm39) |
missense |
probably benign |
|
R5173:Plod1
|
UTSW |
4 |
148,000,758 (GRCm39) |
intron |
probably benign |
|
R5657:Plod1
|
UTSW |
4 |
148,003,238 (GRCm39) |
missense |
possibly damaging |
0.46 |
R6298:Plod1
|
UTSW |
4 |
148,000,772 (GRCm39) |
intron |
probably benign |
|
R6995:Plod1
|
UTSW |
4 |
148,000,675 (GRCm39) |
intron |
probably benign |
|
R7176:Plod1
|
UTSW |
4 |
147,997,744 (GRCm39) |
missense |
probably benign |
0.00 |
R7632:Plod1
|
UTSW |
4 |
148,011,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8059:Plod1
|
UTSW |
4 |
148,012,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R8167:Plod1
|
UTSW |
4 |
148,004,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R8804:Plod1
|
UTSW |
4 |
147,997,778 (GRCm39) |
missense |
probably damaging |
0.99 |
R8909:Plod1
|
UTSW |
4 |
148,011,563 (GRCm39) |
nonsense |
probably null |
|
R8986:Plod1
|
UTSW |
4 |
147,997,734 (GRCm39) |
missense |
probably damaging |
0.99 |
R9245:Plod1
|
UTSW |
4 |
148,010,626 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9646:Plod1
|
UTSW |
4 |
148,016,112 (GRCm39) |
missense |
probably benign |
0.03 |
X0013:Plod1
|
UTSW |
4 |
148,011,499 (GRCm39) |
missense |
possibly damaging |
0.70 |
Y5406:Plod1
|
UTSW |
4 |
148,015,644 (GRCm39) |
missense |
probably damaging |
1.00 |
Y5408:Plod1
|
UTSW |
4 |
148,015,644 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Plod1
|
UTSW |
4 |
148,007,657 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Plod1
|
UTSW |
4 |
148,016,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-06-21 |