Incidental Mutation 'R1391:Lox'
| ID |
162618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lox
|
| Ensembl Gene |
ENSMUSG00000024529 |
| Gene Name |
lysyl oxidase |
| Synonyms |
ras recision gene (rrg), TSC-160 |
| MMRRC Submission |
039453-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1391 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
52649139-52662939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52661891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 171
(Y171H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025409]
[ENSMUST00000171470]
|
| AlphaFold |
P28301 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025409
AA Change: Y171H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025409
Gene: ENSMUSG00000024529
AA Change: Y171H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
Pfam:Lysyl_oxidase
|
207 |
411 |
2.3e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171470
AA Change: Y171H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129247
Gene: ENSMUSG00000024529
AA Change: Y171H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
184 |
N/A |
INTRINSIC |
|
Pfam:Lysyl_oxidase
|
207 |
408 |
3.7e-96 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a precursor protein that belongs to the lysyl oxidase family of proteins. The secreted proprotein is proteolytically processed to an active mature peptide and a propeptide. This propeptide is thought to function in tumor suppression by inhibiting the Ras signaling pathway. The active enzyme plays a role in cross-linking of collagen and elastin and is essential for development of cardiovascular and respiratory systems, and development of skin and connective tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to altered arterial wall structure, aortic aneurysms, cardiovascular dysfunction, diaphragmatic hernia, and perinatal death. Abnormal development of the respiratory system, and elastic and collagen fiber abnormalities in the lung and skin are also observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer3 |
A |
T |
1: 34,627,470 (GRCm39) |
T570S |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,370,110 (GRCm39) |
K20I |
possibly damaging |
Het |
| Bmp10 |
G |
A |
6: 87,410,740 (GRCm39) |
E178K |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,417,372 (GRCm39) |
H254L |
possibly damaging |
Het |
| Cdon |
C |
T |
9: 35,415,485 (GRCm39) |
S1241L |
possibly damaging |
Het |
| Cnst |
C |
A |
1: 179,407,051 (GRCm39) |
P33T |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,369,331 (GRCm39) |
Y4318C |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,495,378 (GRCm39) |
W611* |
probably null |
Het |
| Fst |
C |
T |
13: 114,590,815 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,814 (GRCm39) |
L714P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,491,758 (GRCm39) |
L3732R |
possibly damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,374 (GRCm39) |
K1448* |
probably null |
Het |
| Med12l |
T |
A |
3: 58,945,159 (GRCm39) |
I128N |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,781,673 (GRCm39) |
T791A |
possibly damaging |
Het |
| Prrt4 |
A |
G |
6: 29,169,950 (GRCm39) |
V834A |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,001,728 (GRCm39) |
S1273G |
probably benign |
Het |
| Slc13a4 |
A |
C |
6: 35,248,597 (GRCm39) |
F517V |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,596,602 (GRCm39) |
V452A |
probably benign |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,931 (GRCm39) |
M393K |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,984 (GRCm39) |
N134S |
probably benign |
Het |
|
| Other mutations in Lox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01752:Lox
|
APN |
18 |
52,653,926 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02457:Lox
|
APN |
18 |
52,654,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02665:Lox
|
APN |
18 |
52,658,316 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Lox
|
UTSW |
18 |
52,653,898 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0383:Lox
|
UTSW |
18 |
52,662,271 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0658:Lox
|
UTSW |
18 |
52,661,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1721:Lox
|
UTSW |
18 |
52,653,983 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1794:Lox
|
UTSW |
18 |
52,661,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3122:Lox
|
UTSW |
18 |
52,658,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5436:Lox
|
UTSW |
18 |
52,662,175 (GRCm39) |
missense |
probably benign |
|
|
R5679:Lox
|
UTSW |
18 |
52,661,989 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6739:Lox
|
UTSW |
18 |
52,660,031 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7679:Lox
|
UTSW |
18 |
52,658,178 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7840:Lox
|
UTSW |
18 |
52,658,194 (GRCm39) |
nonsense |
probably null |
|
|
R8015:Lox
|
UTSW |
18 |
52,661,420 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9314:Lox
|
UTSW |
18 |
52,653,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Lox
|
UTSW |
18 |
52,661,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Lox
|
UTSW |
18 |
52,653,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCGGTTTCCATCAGATTCCAGAG -3'
(R):5'- AACAACGGGCAGGTGTTCAGTC -3'
Sequencing Primer
(F):5'- ATCAGATTCCAGAGCTGGCG -3'
(R):5'- TCTGCTGCGTGACAACC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation