Incidental Mutation 'R3731:Loxl3'
| ID |
270982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl3
|
| Ensembl Gene |
ENSMUSG00000000693 |
| Gene Name |
lysyl oxidase-like 3 |
| Synonyms |
Lor2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R3731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 83027652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000000707]
[ENSMUST00000089645]
[ENSMUST00000092618]
[ENSMUST00000101257]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000134606]
|
| AlphaFold |
Q9Z175 |
| Predicted Effect |
probably null
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 null
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: 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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000204383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184661
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000204761
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204895
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,427,485 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
T |
16: 20,217,684 (GRCm39) |
Y5* |
probably null |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adar |
T |
C |
3: 89,653,962 (GRCm39) |
I325T |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,261,125 (GRCm39) |
S92P |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,061,528 (GRCm39) |
V771E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,047,708 (GRCm39) |
S492P |
possibly damaging |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Dennd2d |
T |
G |
3: 106,407,271 (GRCm39) |
F441V |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Disp3 |
A |
G |
4: 148,337,284 (GRCm39) |
S844P |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,599,722 (GRCm39) |
K286E |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,768,671 (GRCm39) |
E203G |
probably benign |
Het |
| Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
| Frmpd4 |
G |
A |
X: 166,269,803 (GRCm39) |
T493M |
probably damaging |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hrob |
A |
G |
11: 102,148,732 (GRCm39) |
E381G |
possibly damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Ints4 |
A |
G |
7: 97,155,308 (GRCm39) |
Q320R |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,121,637 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nepn |
A |
T |
10: 52,280,110 (GRCm39) |
N401Y |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Npas3 |
T |
C |
12: 53,401,175 (GRCm39) |
I40T |
probably benign |
Het |
| Or1e29 |
T |
C |
11: 73,667,565 (GRCm39) |
E196G |
probably benign |
Het |
| Or1j19 |
A |
T |
2: 36,676,578 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or2d4 |
T |
A |
7: 106,543,684 (GRCm39) |
N175Y |
probably damaging |
Het |
| Or4n4b |
T |
A |
14: 50,535,962 (GRCm39) |
D268V |
probably damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,633 (GRCm39) |
I34T |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,338,365 (GRCm39) |
M1L |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,471,193 (GRCm39) |
Y988C |
probably benign |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Serpina1d |
T |
A |
12: 103,734,164 (GRCm39) |
N47Y |
possibly damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sirpb1c |
T |
C |
3: 15,887,287 (GRCm39) |
K184R |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Upp2 |
T |
C |
2: 58,645,379 (GRCm39) |
S41P |
probably benign |
Het |
| Vmn1r10 |
A |
G |
6: 57,090,719 (GRCm39) |
T104A |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,485,349 (GRCm39) |
S838R |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,000,923 (GRCm39) |
V166A |
probably benign |
Het |
| Zfp217 |
T |
C |
2: 169,956,308 (GRCm39) |
N897D |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAGCTTTCAGATGCTGGG -3'
(R):5'- TGGTTACTAGTCTGGCCAGG -3'
Sequencing Primer
(F):5'- AGTGATGAGGACACCTGTGACC -3'
(R):5'- TACTAGTCTGGCCAGGGTAGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation