Incidental Mutation 'IGL01371:Loxl1'
| ID |
76145 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Loxl1
|
| Ensembl Gene |
ENSMUSG00000032334 |
| Gene Name |
lysyl oxidase-like 1 |
| Synonyms |
LOXL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58195021-58220469 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58201705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 462
(Q462L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061799]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061799
AA Change: Q462L
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057406
Gene: ENSMUSG00000032334
AA Change: Q462L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
280 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
326 |
N/A |
INTRINSIC |
|
Pfam:Lysyl_oxidase
|
403 |
604 |
5.1e-98 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the lysyl oxidase family of copper-dependent enzymes that catalyze the formation of lysine-derived crosslinks in proteins such as collagen and elastin. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional enzyme. Mice lacking the encoded protein fail to deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation. [provided by RefSeq, Sep 2016]
PHENOTYPE: Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,602,340 (GRCm39) |
R691Q |
probably benign |
Het |
| Ambra1 |
G |
T |
2: 91,655,631 (GRCm39) |
G700W |
probably damaging |
Het |
| Atp6v1c1 |
A |
G |
15: 38,683,204 (GRCm39) |
I198V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,946,733 (GRCm39) |
N2353S |
probably benign |
Het |
| Cd84 |
A |
T |
1: 171,713,937 (GRCm39) |
T312S |
probably benign |
Het |
| Chl1 |
G |
T |
6: 103,692,325 (GRCm39) |
C1064F |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,666,433 (GRCm39) |
D473G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,377,593 (GRCm39) |
R1793G |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,605,285 (GRCm39) |
N2374S |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,809,718 (GRCm39) |
L1583P |
probably damaging |
Het |
| Gm43191 |
A |
T |
3: 116,439,112 (GRCm39) |
I130N |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,840,581 (GRCm39) |
L475R |
probably damaging |
Het |
| Grm1 |
A |
G |
10: 10,595,783 (GRCm39) |
V615A |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,131,975 (GRCm39) |
E504G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,401,743 (GRCm39) |
W755R |
probably damaging |
Het |
| Or10j27 |
A |
G |
1: 172,958,098 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,192 (GRCm39) |
T277I |
possibly damaging |
Het |
| Or5t17 |
A |
T |
2: 86,833,267 (GRCm39) |
K318M |
probably benign |
Het |
| Otud4 |
T |
C |
8: 80,400,390 (GRCm39) |
F1034L |
probably damaging |
Het |
| Pakap |
C |
A |
4: 57,856,325 (GRCm39) |
D551E |
probably benign |
Het |
| Panx3 |
T |
G |
9: 37,572,771 (GRCm39) |
T260P |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,255,824 (GRCm39) |
S194T |
probably benign |
Het |
| Rnf135 |
T |
A |
11: 80,080,081 (GRCm39) |
I124N |
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,213,302 (GRCm39) |
N283S |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,266,951 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,849 (GRCm39) |
E2702G |
probably benign |
Het |
| Tbk1 |
A |
T |
10: 121,395,776 (GRCm39) |
M439K |
probably benign |
Het |
| Tmem235 |
T |
C |
11: 117,753,132 (GRCm39) |
L85P |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,620,608 (GRCm39) |
|
probably benign |
Het |
| Vmn1r83 |
A |
G |
7: 12,055,160 (GRCm39) |
F299S |
probably benign |
Het |
|
| Other mutations in Loxl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02549:Loxl1
|
APN |
9 |
58,200,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02562:Loxl1
|
APN |
9 |
58,196,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Loxl1
|
APN |
9 |
58,219,193 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0141:Loxl1
|
UTSW |
9 |
58,219,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1503:Loxl1
|
UTSW |
9 |
58,200,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Loxl1
|
UTSW |
9 |
58,204,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Loxl1
|
UTSW |
9 |
58,200,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2264:Loxl1
|
UTSW |
9 |
58,204,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Loxl1
|
UTSW |
9 |
58,219,739 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4993:Loxl1
|
UTSW |
9 |
58,219,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5484:Loxl1
|
UTSW |
9 |
58,198,065 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5598:Loxl1
|
UTSW |
9 |
58,219,650 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5808:Loxl1
|
UTSW |
9 |
58,201,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5917:Loxl1
|
UTSW |
9 |
58,220,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Loxl1
|
UTSW |
9 |
58,219,481 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7899:Loxl1
|
UTSW |
9 |
58,198,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Loxl1
|
UTSW |
9 |
58,219,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9649:Loxl1
|
UTSW |
9 |
58,220,037 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation