Incidental Mutation 'IGL00957:Loxl3'
ID |
27678 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Loxl3
|
Ensembl Gene |
ENSMUSG00000000693 |
Gene Name |
lysyl oxidase-like 3 |
Synonyms |
Lor2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
IGL00957
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 83025747 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089645]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000134606]
|
AlphaFold |
Q9Z175 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000707
|
SMART Domains |
Protein: ENSMUSP00000000707 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 |
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: 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 |
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: ENSMUST00000132099
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204318
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144058
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203339
|
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 |
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 |
|
Coding Region Coverage |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
T |
A |
1: 63,573,470 (GRCm39) |
I246N |
probably benign |
Het |
Adora1 |
A |
G |
1: 134,130,951 (GRCm39) |
L240P |
probably damaging |
Het |
Ago4 |
C |
T |
4: 126,410,926 (GRCm39) |
V188I |
probably benign |
Het |
Ccdc138 |
T |
A |
10: 58,364,838 (GRCm39) |
|
probably benign |
Het |
Cpeb4 |
A |
G |
11: 31,823,204 (GRCm39) |
Y306C |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,269,771 (GRCm39) |
E272G |
probably damaging |
Het |
Dst |
G |
A |
1: 34,267,488 (GRCm39) |
V5155I |
probably benign |
Het |
Fabp12 |
C |
T |
3: 10,315,273 (GRCm39) |
|
probably null |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Hpcal1 |
G |
A |
12: 17,837,591 (GRCm39) |
E142K |
probably benign |
Het |
Hspa4 |
G |
A |
11: 53,171,514 (GRCm39) |
T230I |
probably benign |
Het |
Htt |
T |
C |
5: 34,964,068 (GRCm39) |
V387A |
probably benign |
Het |
Lrrc30 |
G |
A |
17: 67,939,499 (GRCm39) |
S27L |
probably benign |
Het |
Mtpn |
A |
G |
6: 35,516,547 (GRCm39) |
|
probably benign |
Het |
Mug2 |
A |
G |
6: 122,017,613 (GRCm39) |
Y450C |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,284,091 (GRCm39) |
|
probably null |
Het |
Or8k23 |
A |
T |
2: 86,186,477 (GRCm39) |
V83E |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,576,394 (GRCm39) |
S99T |
probably benign |
Het |
Rb1cc1 |
G |
A |
1: 6,319,763 (GRCm39) |
A1061T |
probably damaging |
Het |
Rhbdd1 |
T |
C |
1: 82,318,362 (GRCm39) |
Y82H |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,196,279 (GRCm39) |
|
probably benign |
Het |
Sox6 |
T |
C |
7: 115,376,327 (GRCm39) |
K135R |
probably damaging |
Het |
Tasor2 |
T |
A |
13: 3,627,101 (GRCm39) |
I950F |
possibly damaging |
Het |
Tbx21 |
A |
G |
11: 96,989,920 (GRCm39) |
V424A |
probably benign |
Het |
Trpa1 |
A |
T |
1: 14,951,892 (GRCm39) |
Y936N |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,569,280 (GRCm39) |
D25458E |
probably damaging |
Het |
Zfp629 |
C |
T |
7: 127,211,896 (GRCm39) |
V6M |
probably damaging |
Het |
|
Other mutations in Loxl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5664:Loxl3
|
UTSW |
6 |
83,026,863 (GRCm39) |
missense |
probably benign |
0.12 |
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 |
|
|
Posted On |
2013-04-17 |