Incidental Mutation 'IGL02588:Plod1'
| ID |
299598 |
| 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 # |
IGL02588
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
147994210-148021224 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 147997747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 654
(L654*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019199]
|
| AlphaFold |
Q9R0E2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019199
AA Change: L654*
|
| SMART Domains |
Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055
AA Change: L654*
| 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: ENSMUST00000149129
|
| SMART Domains |
Protein: ENSMUSP00000118857
Gene: ENSMUSG00000019055
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:P4Hc
|
31 |
136 |
5e-33 |
BLAST |
|
Blast:P4Hc
|
141 |
269 |
4e-47 |
BLAST |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
G |
A |
12: 52,933,282 (GRCm39) |
W258* |
probably null |
Het |
| Ankmy2 |
T |
C |
12: 36,226,685 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 38,734,670 (GRCm39) |
|
probably benign |
Het |
| Aspscr1 |
A |
G |
11: 120,568,357 (GRCm39) |
D60G |
possibly damaging |
Het |
| Cdh15 |
C |
A |
8: 123,583,291 (GRCm39) |
Y31* |
probably null |
Het |
| Cnih3 |
A |
G |
1: 181,237,269 (GRCm39) |
R76G |
probably benign |
Het |
| Cplx1 |
C |
A |
5: 108,673,289 (GRCm39) |
R44L |
possibly damaging |
Het |
| Dhx57 |
T |
A |
17: 80,576,300 (GRCm39) |
I597F |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,916,479 (GRCm39) |
F4231L |
possibly damaging |
Het |
| Dst |
T |
G |
1: 34,156,565 (GRCm39) |
L173R |
probably damaging |
Het |
| Fezf2 |
A |
T |
14: 12,343,687 (GRCm38) |
Y353N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,360,395 (GRCm39) |
L247Q |
probably damaging |
Het |
| Gm10912 |
C |
T |
2: 103,897,197 (GRCm39) |
|
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,376,673 (GRCm39) |
L541H |
probably damaging |
Het |
| Gpld1 |
C |
T |
13: 25,127,682 (GRCm39) |
T28I |
probably damaging |
Het |
| Lmf2 |
A |
T |
15: 89,239,609 (GRCm39) |
|
probably null |
Het |
| Lratd2 |
T |
C |
15: 60,694,999 (GRCm39) |
D249G |
probably damaging |
Het |
| Mex3c |
A |
G |
18: 73,723,116 (GRCm39) |
N403S |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,105 (GRCm39) |
L246* |
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,330,551 (GRCm39) |
L615* |
probably null |
Het |
| Nlrp4c |
A |
T |
7: 6,087,647 (GRCm39) |
D760V |
probably benign |
Het |
| Nlrp4g |
T |
C |
9: 124,348,843 (GRCm38) |
|
noncoding transcript |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
A |
14: 65,855,226 (GRCm39) |
|
probably benign |
Het |
| Or4c122 |
T |
C |
2: 89,080,042 (GRCm39) |
|
probably benign |
Het |
| Or52d1 |
C |
T |
7: 103,756,260 (GRCm39) |
T258I |
possibly damaging |
Het |
| Papolg |
T |
A |
11: 23,840,252 (GRCm39) |
I75F |
probably damaging |
Het |
| Pcdhgc5 |
A |
G |
18: 37,955,003 (GRCm39) |
Y759C |
probably damaging |
Het |
| Pdp2 |
A |
G |
8: 105,321,536 (GRCm39) |
K462E |
possibly damaging |
Het |
| Ppp4r3b |
G |
T |
11: 29,148,853 (GRCm39) |
G25* |
probably null |
Het |
| Ptch1 |
T |
C |
13: 63,659,732 (GRCm39) |
D1307G |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,167,361 (GRCm39) |
V1034A |
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,813,712 (GRCm39) |
L319Q |
probably damaging |
Het |
| Retnlg |
A |
G |
16: 48,693,255 (GRCm39) |
T11A |
probably benign |
Het |
| Rfc3 |
A |
T |
5: 151,566,381 (GRCm39) |
F356Y |
possibly damaging |
Het |
| Rnf213 |
G |
T |
11: 119,307,362 (GRCm39) |
C674F |
probably benign |
Het |
| Shcbp1l |
A |
G |
1: 153,304,411 (GRCm39) |
K157E |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,451 (GRCm39) |
C233R |
probably damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,834,511 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| St14 |
C |
A |
9: 31,001,329 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
A |
7: 18,776,550 (GRCm39) |
V481M |
probably benign |
Het |
| Timeless |
T |
A |
10: 128,079,203 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,361,542 (GRCm39) |
H106L |
probably benign |
Het |
| Zbtb45 |
A |
T |
7: 12,740,204 (GRCm39) |
C470* |
probably null |
Het |
|
| Other mutations in Plod1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01144:Plod1
|
APN |
4 |
148,017,211 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02312:Plod1
|
APN |
4 |
148,010,614 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
2015-04-16 |
Incidental Mutation