Incidental Mutation 'R8684:Loxl3'
ID |
661941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl3
|
Ensembl Gene |
ENSMUSG00000000693 |
Gene Name |
lysyl oxidase-like 3 |
Synonyms |
Lor2 |
MMRRC Submission |
068539-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R8684 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83012566 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 35
(E35G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089651]
[ENSMUST00000101257]
[ENSMUST00000149918]
|
AlphaFold |
Q9Z175 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000707
AA Change: E35G
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000000707 Gene: ENSMUSG00000000693 AA Change: E35G
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: ENSMUST00000089651
|
SMART Domains |
Protein: ENSMUSP00000087079 Gene: ENSMUSG00000068335
Domain | Start | End | E-Value | Type |
PH
|
4 |
121 |
1.31e-8 |
SMART |
IRS
|
151 |
254 |
1.21e-45 |
SMART |
PTBI
|
152 |
254 |
3.84e-59 |
SMART |
low complexity region
|
411 |
424 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101257
AA Change: E35G
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000098815 Gene: ENSMUSG00000000693 AA Change: E35G
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: ENSMUST00000149918
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204900
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (47/47) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
C |
T |
7: 42,097,413 (GRCm39) |
R27H |
probably benign |
Het |
Abca2 |
T |
A |
2: 25,336,508 (GRCm39) |
L2229Q |
possibly damaging |
Het |
Adamts4 |
A |
T |
1: 171,086,541 (GRCm39) |
T778S |
probably damaging |
Het |
AY358078 |
T |
G |
14: 52,059,597 (GRCm39) |
Y311* |
probably null |
Het |
Catsperg1 |
C |
T |
7: 28,897,825 (GRCm39) |
V181M |
probably damaging |
Het |
Cdcp3 |
C |
A |
7: 130,837,688 (GRCm39) |
S528* |
probably null |
Het |
Cep70 |
A |
G |
9: 99,145,842 (GRCm39) |
K170E |
possibly damaging |
Het |
Coro1b |
T |
A |
19: 4,199,527 (GRCm39) |
V62E |
probably damaging |
Het |
Dnajc11 |
T |
C |
4: 152,065,183 (GRCm39) |
*560Q |
probably null |
Het |
Eci3 |
T |
C |
13: 35,143,874 (GRCm39) |
N84D |
probably damaging |
Het |
F5 |
T |
A |
1: 164,045,111 (GRCm39) |
V2133E |
probably benign |
Het |
Fancl |
C |
A |
11: 26,420,826 (GRCm39) |
P116Q |
|
Het |
Gm10801 |
ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC |
ATTTTCAGTTTTC |
2: 98,492,669 (GRCm39) |
|
probably null |
Het |
Golgb1 |
C |
T |
16: 36,734,764 (GRCm39) |
T1378M |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,096,147 (GRCm39) |
N342S |
probably benign |
Het |
Herc3 |
A |
G |
6: 58,864,561 (GRCm39) |
K732E |
probably damaging |
Het |
Lce1e |
A |
T |
3: 92,615,269 (GRCm39) |
I26N |
unknown |
Het |
Lingo1 |
T |
C |
9: 56,528,106 (GRCm39) |
Y167C |
probably damaging |
Het |
Mmp13 |
A |
G |
9: 7,282,089 (GRCm39) |
M464V |
possibly damaging |
Het |
Mov10 |
T |
C |
3: 104,711,690 (GRCm39) |
H199R |
probably benign |
Het |
Nbas |
A |
G |
12: 13,386,368 (GRCm39) |
T765A |
probably damaging |
Het |
Nlgn3 |
C |
T |
X: 100,363,425 (GRCm39) |
R679* |
probably null |
Het |
Nrp1 |
C |
T |
8: 129,085,885 (GRCm39) |
|
probably benign |
Het |
Nup88 |
C |
A |
11: 70,860,687 (GRCm39) |
V31L |
probably benign |
Het |
Or2r11 |
T |
C |
6: 42,437,827 (GRCm39) |
N42S |
probably damaging |
Het |
Or5d39 |
T |
C |
2: 87,979,872 (GRCm39) |
T164A |
probably benign |
Het |
Or7a36 |
A |
T |
10: 78,820,212 (GRCm39) |
D196V |
probably benign |
Het |
Pah |
A |
G |
10: 87,414,827 (GRCm39) |
N393S |
probably benign |
Het |
Peli3 |
T |
C |
19: 4,985,022 (GRCm39) |
Y163C |
probably damaging |
Het |
Rasgef1b |
A |
T |
5: 99,524,994 (GRCm39) |
M55K |
probably benign |
Het |
Ror2 |
T |
C |
13: 53,264,302 (GRCm39) |
D930G |
possibly damaging |
Het |
Rpgrip1l |
T |
G |
8: 92,000,329 (GRCm39) |
M537L |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,702,875 (GRCm39) |
V2871E |
probably damaging |
Het |
Smco1 |
A |
T |
16: 32,092,841 (GRCm39) |
N171Y |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Sox2 |
T |
A |
3: 34,705,016 (GRCm39) |
L151Q |
probably benign |
Het |
Spink5 |
A |
G |
18: 44,143,305 (GRCm39) |
E754G |
probably benign |
Het |
Sulf1 |
A |
T |
1: 12,867,004 (GRCm39) |
M63L |
probably benign |
Het |
Traf2 |
A |
G |
2: 25,410,458 (GRCm39) |
M390T |
probably damaging |
Het |
Trav13d-4 |
T |
C |
14: 53,310,266 (GRCm39) |
V16A |
probably damaging |
Het |
Trmo |
C |
T |
4: 46,386,251 (GRCm39) |
W84* |
probably null |
Het |
Trmo |
T |
C |
4: 46,386,253 (GRCm39) |
|
probably null |
Het |
Ttyh1 |
T |
A |
7: 4,133,791 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,220 (GRCm39) |
N4194S |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,486,511 (GRCm39) |
Y259C |
probably damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,497,912 (GRCm39) |
|
probably benign |
Het |
Zfp101 |
A |
G |
17: 33,600,977 (GRCm39) |
S260P |
possibly 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 |
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 |
|
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'- AATCTAGGTCTCTAGGGCTGTGC -3'
(R):5'- ATTTGGCACTATGGGTCCACC -3'
Sequencing Primer
(F):5'- TGTGTTCCTACCCTCATTCAGTGTG -3'
(R):5'- CACCCTGTGGCTTCTGTGAAG -3'
|
Posted On |
2021-03-08 |