Incidental Mutation 'R5664:Loxl3'
ID |
444257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl3
|
Ensembl Gene |
ENSMUSG00000000693 |
Gene Name |
lysyl oxidase-like 3 |
Synonyms |
Lor2 |
MMRRC Submission |
043307-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R5664 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83026863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 564
(S564N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089645]
[ENSMUST00000092618]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000134606]
|
AlphaFold |
Q9Z175 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000707
AA Change: S564N
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000000707 Gene: ENSMUSG00000000693 AA Change: S564N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
SR
|
45 |
146 |
2.1e-50 |
SMART |
SR
|
170 |
283 |
1.09e-25 |
SMART |
SR
|
308 |
408 |
3.72e-51 |
SMART |
SR
|
418 |
526 |
8.5e-37 |
SMART |
Pfam:Lysyl_oxidase
|
530 |
730 |
3.9e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089645
|
SMART Domains |
Protein: ENSMUSP00000087073 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
170 |
341 |
1.1e-14 |
PFAM |
Pfam:Trypsin_2
|
182 |
320 |
1.2e-34 |
PFAM |
PDZ
|
371 |
445 |
2.86e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092618
|
SMART Domains |
Protein: ENSMUSP00000090281 Gene: ENSMUSG00000068328
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
40 |
N/A |
INTRINSIC |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
PlsC
|
119 |
222 |
1.04e-1 |
SMART |
low complexity region
|
307 |
322 |
N/A |
INTRINSIC |
CUE
|
325 |
366 |
1.3e-9 |
SMART |
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
low complexity region
|
421 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101257
|
SMART Domains |
Protein: ENSMUSP00000098815 Gene: ENSMUSG00000000693
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
SR
|
45 |
146 |
2.1e-50 |
SMART |
SR
|
170 |
283 |
1.09e-25 |
SMART |
SR
|
308 |
396 |
5.46e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113962
|
SMART Domains |
Protein: ENSMUSP00000109595 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin_2
|
182 |
237 |
2.7e-12 |
PFAM |
Pfam:Trypsin
|
212 |
277 |
4.5e-6 |
PFAM |
PDZ
|
285 |
348 |
4.89e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113963
|
SMART Domains |
Protein: ENSMUSP00000109596 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
170 |
342 |
6.8e-15 |
PFAM |
Pfam:Trypsin_2
|
182 |
320 |
7.1e-24 |
PFAM |
PDZ
|
350 |
413 |
4.89e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184661
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122955
|
SMART Domains |
Protein: ENSMUSP00000138153 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
39 |
N/A |
INTRINSIC |
transmembrane domain
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
128 |
143 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
170 |
321 |
2.1e-10 |
PFAM |
Pfam:Trypsin_2
|
182 |
317 |
9.5e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150217
|
SMART Domains |
Protein: ENSMUSP00000118234 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
11 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
41 |
215 |
1.6e-11 |
PFAM |
Pfam:Trypsin_2
|
53 |
190 |
1.8e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132099
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134606
|
SMART Domains |
Protein: ENSMUSP00000115547 Gene: ENSMUSG00000068329
Domain | Start | End | E-Value | Type |
Pfam:Trypsin
|
7 |
180 |
2.7e-15 |
PFAM |
Pfam:Trypsin_2
|
20 |
158 |
3.1e-24 |
PFAM |
PDZ
|
209 |
283 |
2.86e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204383
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016] PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality shortly after birth, craniofacial and vertebral abnormalities associated with collagen deformities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
T |
A |
6: 72,325,977 (GRCm39) |
|
probably null |
Het |
9430015G10Rik |
T |
A |
4: 156,208,016 (GRCm39) |
L112H |
probably damaging |
Het |
Acaca |
T |
C |
11: 84,134,210 (GRCm39) |
L441P |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Arsj |
A |
T |
3: 126,232,306 (GRCm39) |
I351F |
probably damaging |
Het |
Atp6v1b2 |
A |
G |
8: 69,560,272 (GRCm39) |
T373A |
probably damaging |
Het |
Atr |
C |
A |
9: 95,787,866 (GRCm39) |
N1486K |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,730,824 (GRCm39) |
S583P |
probably damaging |
Het |
Bptf |
A |
T |
11: 106,964,525 (GRCm39) |
D1493E |
probably benign |
Het |
Brme1 |
A |
T |
8: 84,893,288 (GRCm39) |
I152F |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,225,069 (GRCm39) |
E548G |
probably damaging |
Het |
Capn3 |
G |
A |
2: 120,307,506 (GRCm39) |
R15Q |
probably benign |
Het |
Ccl3 |
A |
G |
11: 83,540,039 (GRCm39) |
F22S |
probably benign |
Het |
Clcf1 |
T |
C |
19: 4,272,150 (GRCm39) |
F69S |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,686,895 (GRCm39) |
E170G |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,083,413 (GRCm39) |
F489L |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,631,577 (GRCm39) |
N390I |
probably damaging |
Het |
Dkk1 |
T |
A |
19: 30,526,189 (GRCm39) |
Y135F |
probably benign |
Het |
Edil3 |
G |
T |
13: 89,467,832 (GRCm39) |
V446F |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,725 (GRCm39) |
E93V |
probably damaging |
Het |
Epsti1 |
C |
T |
14: 78,201,104 (GRCm39) |
T196I |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,876,394 (GRCm39) |
S2376P |
possibly damaging |
Het |
Frem2 |
A |
G |
3: 53,559,911 (GRCm39) |
V1532A |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,818,439 (GRCm39) |
M4724K |
probably benign |
Het |
Gcat |
T |
A |
15: 78,927,273 (GRCm39) |
L238Q |
probably damaging |
Het |
Gimap6 |
T |
C |
6: 48,679,209 (GRCm39) |
K276E |
probably benign |
Het |
Gjb5 |
T |
A |
4: 127,249,722 (GRCm39) |
I141F |
probably benign |
Het |
Glt6d1 |
T |
C |
2: 25,704,192 (GRCm39) |
I7V |
probably benign |
Het |
Gtf2h5 |
G |
A |
17: 6,134,799 (GRCm39) |
G30R |
probably damaging |
Het |
Herc6 |
C |
A |
6: 57,595,669 (GRCm39) |
T449K |
probably benign |
Het |
Hpn |
A |
T |
7: 30,798,687 (GRCm39) |
Y132N |
probably damaging |
Het |
Hpx |
A |
T |
7: 105,244,355 (GRCm39) |
M190K |
probably benign |
Het |
Inf2 |
A |
G |
12: 112,578,162 (GRCm39) |
H1151R |
unknown |
Het |
Krt74 |
A |
G |
15: 101,669,014 (GRCm39) |
|
noncoding transcript |
Het |
Map7 |
T |
A |
10: 20,143,105 (GRCm39) |
V418E |
unknown |
Het |
Mrpl37 |
T |
C |
4: 106,921,588 (GRCm39) |
N214D |
probably benign |
Het |
Mthfr |
T |
C |
4: 148,139,923 (GRCm39) |
Y656H |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,812,526 (GRCm39) |
D2099G |
probably benign |
Het |
Nktr |
T |
A |
9: 121,578,483 (GRCm39) |
C825* |
probably null |
Het |
Nomo1 |
A |
G |
7: 45,725,581 (GRCm39) |
E1029G |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,633,020 (GRCm39) |
D1037G |
probably benign |
Het |
Or4b12 |
A |
G |
2: 90,095,959 (GRCm39) |
F272L |
probably damaging |
Het |
Or5w22 |
T |
C |
2: 87,363,178 (GRCm39) |
L267P |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,582,049 (GRCm39) |
V385D |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,682,733 (GRCm39) |
L38P |
probably damaging |
Het |
Pkd1 |
A |
T |
17: 24,788,345 (GRCm39) |
D701V |
probably damaging |
Het |
Pnpla6 |
A |
G |
8: 3,587,478 (GRCm39) |
T1070A |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,923,919 (GRCm39) |
D185G |
probably benign |
Het |
Prp2rt |
C |
A |
13: 97,235,629 (GRCm39) |
L39F |
probably damaging |
Het |
Prss1l |
C |
T |
6: 41,371,605 (GRCm39) |
P17L |
probably benign |
Het |
Prune1 |
A |
T |
3: 95,165,489 (GRCm39) |
L261Q |
probably damaging |
Het |
Qser1 |
A |
T |
2: 104,608,541 (GRCm39) |
L1444I |
probably damaging |
Het |
Serpina6 |
A |
C |
12: 103,620,726 (GRCm39) |
C8G |
probably damaging |
Het |
Sla2 |
A |
T |
2: 156,716,919 (GRCm39) |
D180E |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
Snhg16 |
A |
T |
11: 116,563,490 (GRCm39) |
T27S |
possibly damaging |
Het |
Tbx3 |
A |
G |
5: 119,816,796 (GRCm39) |
K311R |
possibly damaging |
Het |
Tdpoz6 |
A |
G |
3: 93,599,994 (GRCm39) |
F125S |
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,910,099 (GRCm39) |
C167S |
probably damaging |
Het |
Trak1 |
T |
A |
9: 121,301,373 (GRCm39) |
C710S |
possibly damaging |
Het |
Tsks |
G |
A |
7: 44,603,208 (GRCm39) |
E337K |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,816,604 (GRCm39) |
I593T |
probably damaging |
Het |
Vmn2r118 |
A |
G |
17: 55,899,765 (GRCm39) |
I713T |
possibly damaging |
Het |
Vmn2r23 |
C |
T |
6: 123,690,033 (GRCm39) |
T303M |
probably damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,882,978 (GRCm39) |
M258K |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,895,202 (GRCm39) |
|
probably null |
Het |
Wap |
A |
G |
11: 6,588,609 (GRCm39) |
I5T |
possibly damaging |
Het |
Zfp235 |
A |
C |
7: 23,841,576 (GRCm39) |
H665P |
probably damaging |
Het |
|
Other mutations in Loxl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00957:Loxl3
|
APN |
6 |
83,025,747 (GRCm39) |
unclassified |
probably benign |
|
IGL01370:Loxl3
|
APN |
6 |
83,026,468 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02126:Loxl3
|
APN |
6 |
83,025,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02128:Loxl3
|
APN |
6 |
83,027,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Loxl3
|
UTSW |
6 |
83,027,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R0241:Loxl3
|
UTSW |
6 |
83,027,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R1725:Loxl3
|
UTSW |
6 |
83,012,574 (GRCm39) |
missense |
probably benign |
0.00 |
R1771:Loxl3
|
UTSW |
6 |
83,026,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Loxl3
|
UTSW |
6 |
83,025,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R2291:Loxl3
|
UTSW |
6 |
83,014,469 (GRCm39) |
missense |
probably benign |
0.07 |
R3731:Loxl3
|
UTSW |
6 |
83,027,652 (GRCm39) |
critical splice donor site |
probably null |
|
R4179:Loxl3
|
UTSW |
6 |
83,014,565 (GRCm39) |
missense |
probably benign |
0.00 |
R5230:Loxl3
|
UTSW |
6 |
83,012,775 (GRCm39) |
missense |
probably benign |
0.16 |
R5385:Loxl3
|
UTSW |
6 |
83,027,593 (GRCm39) |
missense |
probably damaging |
0.99 |
R5591:Loxl3
|
UTSW |
6 |
83,025,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R5769:Loxl3
|
UTSW |
6 |
83,027,581 (GRCm39) |
missense |
probably damaging |
0.98 |
R5771:Loxl3
|
UTSW |
6 |
83,012,780 (GRCm39) |
splice site |
probably null |
|
R5802:Loxl3
|
UTSW |
6 |
83,026,270 (GRCm39) |
missense |
possibly damaging |
0.67 |
R5831:Loxl3
|
UTSW |
6 |
83,025,999 (GRCm39) |
missense |
probably benign |
0.01 |
R5945:Loxl3
|
UTSW |
6 |
83,014,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R6542:Loxl3
|
UTSW |
6 |
83,025,147 (GRCm39) |
missense |
probably benign |
0.00 |
R6687:Loxl3
|
UTSW |
6 |
83,027,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R7961:Loxl3
|
UTSW |
6 |
83,027,790 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8009:Loxl3
|
UTSW |
6 |
83,027,790 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8122:Loxl3
|
UTSW |
6 |
83,026,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R8278:Loxl3
|
UTSW |
6 |
83,025,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8373:Loxl3
|
UTSW |
6 |
83,025,872 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8411:Loxl3
|
UTSW |
6 |
83,027,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R8539:Loxl3
|
UTSW |
6 |
83,026,507 (GRCm39) |
missense |
probably benign |
|
R8684:Loxl3
|
UTSW |
6 |
83,012,566 (GRCm39) |
missense |
probably benign |
0.23 |
R8782:Loxl3
|
UTSW |
6 |
83,025,051 (GRCm39) |
missense |
probably benign |
|
R8801:Loxl3
|
UTSW |
6 |
83,025,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R8859:Loxl3
|
UTSW |
6 |
83,014,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8864:Loxl3
|
UTSW |
6 |
83,012,739 (GRCm39) |
missense |
probably damaging |
0.99 |
R9031:Loxl3
|
UTSW |
6 |
83,012,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R9081:Loxl3
|
UTSW |
6 |
83,025,638 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9176:Loxl3
|
UTSW |
6 |
83,026,292 (GRCm39) |
missense |
probably damaging |
0.99 |
R9369:Loxl3
|
UTSW |
6 |
83,027,393 (GRCm39) |
missense |
probably benign |
0.26 |
R9634:Loxl3
|
UTSW |
6 |
83,027,835 (GRCm39) |
missense |
probably benign |
0.10 |
V1024:Loxl3
|
UTSW |
6 |
83,012,719 (GRCm39) |
missense |
probably damaging |
1.00 |
X0009:Loxl3
|
UTSW |
6 |
83,015,461 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Loxl3
|
UTSW |
6 |
83,025,141 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Loxl3
|
UTSW |
6 |
83,015,559 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGATCTGCCTCGAGAGAAG -3'
(R):5'- CTGAATCCCAACAGGCTTGTTAC -3'
Sequencing Primer
(F):5'- TCGAGAGAAGCCAGTCTCC -3'
(R):5'- ACAGGCTTGTTACACCCCTGAG -3'
|
Posted On |
2016-11-09 |