Incidental Mutation 'R5173:Plod1'
| ID |
398884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plod1
|
| Ensembl Gene |
ENSMUSG00000019055 |
| Gene Name |
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 |
| Synonyms |
2410042F05Rik, LH1, lysyl hydroxylase 1 |
| MMRRC Submission |
042753-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
147994210-148021224 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 148000758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019199]
|
| AlphaFold |
Q9R0E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019199
|
| SMART Domains |
Protein: ENSMUSP00000019199
Gene: ENSMUSG00000019055
| 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 |
unknown
Transcript: ENSMUST00000149129
AA Change: S188P
|
| SMART Domains |
Protein: ENSMUSP00000118857
Gene: ENSMUSG00000019055
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:P4Hc
|
31 |
136 |
5e-33 |
BLAST |
|
Blast:P4Hc
|
141 |
269 |
4e-47 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (50/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
AC |
A |
11: 9,632,032 (GRCm39) |
|
probably null |
Het |
| Abca6 |
A |
T |
11: 110,082,546 (GRCm39) |
F1142L |
probably benign |
Het |
| Ap1g1 |
T |
A |
8: 110,577,764 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,058,238 (GRCm39) |
V2207A |
probably benign |
Het |
| Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,260,069 (GRCm39) |
|
probably benign |
Het |
| Coch |
C |
A |
12: 51,643,290 (GRCm39) |
Y103* |
probably null |
Het |
| Cul3 |
A |
T |
1: 80,259,133 (GRCm39) |
D382E |
possibly damaging |
Het |
| Cul5 |
T |
C |
9: 53,554,034 (GRCm39) |
T291A |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,545,645 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
A |
G |
5: 9,190,356 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,217,474 (GRCm39) |
Y41C |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,238,841 (GRCm39) |
I45M |
probably damaging |
Het |
| Epn3 |
T |
C |
11: 94,386,923 (GRCm39) |
K149R |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,455,537 (GRCm39) |
E2029G |
probably damaging |
Het |
| Gm5799 |
A |
G |
14: 43,782,116 (GRCm39) |
N96S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grik5 |
T |
C |
7: 24,762,319 (GRCm39) |
H224R |
possibly damaging |
Het |
| Lpar6 |
A |
T |
14: 73,476,537 (GRCm39) |
E166V |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,360,985 (GRCm39) |
L683P |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,196,149 (GRCm39) |
I538M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,311 (GRCm39) |
R77G |
possibly damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,633 (GRCm39) |
|
probably benign |
Het |
| Mylk |
A |
G |
16: 34,797,383 (GRCm39) |
H1614R |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,334,713 (GRCm39) |
F12L |
probably benign |
Het |
| Or4p18 |
G |
A |
2: 88,233,266 (GRCm39) |
T4I |
probably benign |
Het |
| Or7c19 |
T |
C |
8: 85,957,205 (GRCm39) |
L27P |
probably damaging |
Het |
| Osbpl1a |
C |
T |
18: 12,895,697 (GRCm39) |
V390I |
probably benign |
Het |
| Pcdha7 |
C |
A |
18: 37,107,705 (GRCm39) |
D243E |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,168,770 (GRCm39) |
N653K |
possibly damaging |
Het |
| Plin5 |
T |
G |
17: 56,422,548 (GRCm39) |
|
probably null |
Het |
| Psd3 |
T |
C |
8: 68,149,641 (GRCm39) |
K372E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,351,566 (GRCm39) |
T263I |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,769,676 (GRCm39) |
N396K |
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,597,800 (GRCm39) |
E155G |
probably damaging |
Het |
| Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,146,471 (GRCm39) |
|
probably benign |
Het |
| Rnmt |
C |
T |
18: 68,454,430 (GRCm39) |
|
probably benign |
Het |
| Slc10a1 |
T |
A |
12: 81,002,802 (GRCm39) |
I279F |
probably damaging |
Het |
| Sp140l1 |
G |
A |
1: 85,078,288 (GRCm39) |
R54* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,250 (GRCm39) |
Y99H |
probably damaging |
Het |
| Tas2r144 |
T |
A |
6: 42,193,048 (GRCm39) |
F263I |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,768 (GRCm39) |
N399K |
possibly damaging |
Het |
| Tlr9 |
T |
A |
9: 106,103,151 (GRCm39) |
V814D |
possibly damaging |
Het |
| Tmem53 |
T |
A |
4: 117,122,908 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,928,337 (GRCm39) |
I511V |
possibly damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,844,935 (GRCm39) |
M766T |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,011,115 (GRCm39) |
V1027A |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAGATGGCACCCAGACTC -3'
(R):5'- GCCTCAGTGAATAGTAGCTCC -3'
Sequencing Primer
(F):5'- CCCTTGACTTTGGTACAGATAGGAC -3'
(R):5'- CTCAGTGAATAGTAGCTCCTGTATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation