Incidental Mutation 'R8411:Loxl3'
| ID |
652674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl3
|
| Ensembl Gene |
ENSMUSG00000000693 |
| Gene Name |
lysyl oxidase-like 3 |
| Synonyms |
Lor2 |
| MMRRC Submission |
067881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R8411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83027605 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 716
(C716S)
|
| 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 damaging
Transcript: ENSMUST00000000707
AA Change: C716S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: C716S
| 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
AA Change: C434S
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: C434S
| 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 |
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 |
probably benign
Transcript: ENSMUST00000203915
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204719
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
A |
G |
5: 113,285,588 (GRCm39) |
S89P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
| Adam18 |
A |
T |
8: 25,142,143 (GRCm39) |
I211N |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,290,430 (GRCm39) |
Y478C |
probably damaging |
Het |
| Apba2 |
A |
T |
7: 64,386,674 (GRCm39) |
I434F |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,286,759 (GRCm39) |
K50N |
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,715,903 (GRCm39) |
Q1397H |
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,597,208 (GRCm39) |
R129Q |
probably damaging |
Het |
| Atxn1 |
A |
G |
13: 45,720,032 (GRCm39) |
V621A |
probably benign |
Het |
| Catsperz |
A |
T |
19: 6,899,930 (GRCm39) |
L192M |
probably benign |
Het |
| Cd5 |
G |
A |
19: 10,697,585 (GRCm39) |
P465S |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cfap61 |
A |
G |
2: 145,789,103 (GRCm39) |
E94G |
probably benign |
Het |
| Chd1 |
A |
G |
17: 15,982,711 (GRCm39) |
H1392R |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,688,888 (GRCm39) |
I23V |
probably benign |
Het |
| Ctnnd2 |
C |
T |
15: 30,647,179 (GRCm39) |
R292C |
probably benign |
Het |
| Dcaf6 |
T |
A |
1: 165,216,244 (GRCm39) |
H453L |
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,610,253 (GRCm39) |
D1728Y |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,028,693 (GRCm39) |
K179E |
possibly damaging |
Het |
| Fam3b |
T |
A |
16: 97,283,053 (GRCm39) |
Y74F |
probably benign |
Het |
| Gm5464 |
T |
C |
14: 67,106,555 (GRCm39) |
L64P |
unknown |
Het |
| Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
| Kcnh7 |
T |
A |
2: 62,594,952 (GRCm39) |
H706L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,018,239 (GRCm39) |
R1067H |
probably damaging |
Het |
| Klhl28 |
A |
T |
12: 64,996,864 (GRCm39) |
H492Q |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,833,187 (GRCm39) |
Y1474H |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Mmp24 |
G |
T |
2: 155,655,935 (GRCm39) |
V458L |
probably benign |
Het |
| Mpl |
C |
A |
4: 118,303,306 (GRCm39) |
S502I |
|
Het |
| Nfatc1 |
A |
T |
18: 80,710,257 (GRCm39) |
V503D |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,175,807 (GRCm39) |
I133T |
possibly damaging |
Het |
| Nr1d2 |
T |
C |
14: 18,215,031 (GRCm38) |
Y327C |
probably damaging |
Het |
| Oma1 |
C |
T |
4: 103,186,113 (GRCm39) |
R360* |
probably null |
Het |
| Oog2 |
T |
A |
4: 143,920,743 (GRCm39) |
W59R |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,818,409 (GRCm39) |
T46A |
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,333,974 (GRCm39) |
E96G |
probably damaging |
Het |
| Pcna |
T |
A |
2: 132,093,850 (GRCm39) |
T98S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,729,618 (GRCm39) |
C899Y |
possibly damaging |
Het |
| Phf11d |
T |
C |
14: 59,593,883 (GRCm39) |
N97S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,103,961 (GRCm39) |
W431* |
probably null |
Het |
| Plk4 |
A |
G |
3: 40,767,901 (GRCm39) |
T815A |
probably benign |
Het |
| Pnma2 |
C |
T |
14: 67,153,762 (GRCm39) |
T62I |
possibly damaging |
Het |
| Ppp1r9a |
C |
T |
6: 5,057,568 (GRCm39) |
R548W |
probably damaging |
Het |
| Ptx3 |
A |
G |
3: 66,132,201 (GRCm39) |
S241G |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rplp0 |
A |
T |
5: 115,698,823 (GRCm39) |
K26N |
probably damaging |
Het |
| Sec62 |
A |
C |
3: 30,872,931 (GRCm39) |
E338A |
unknown |
Het |
| Sema6a |
T |
C |
18: 47,382,022 (GRCm39) |
M842V |
probably benign |
Het |
| Serpina3j |
T |
C |
12: 104,281,043 (GRCm39) |
V72A |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,705,880 (GRCm39) |
N455D |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,108,398 (GRCm39) |
F54Y |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,715,394 (GRCm39) |
V80M |
probably damaging |
Het |
| Spic |
T |
C |
10: 88,514,498 (GRCm39) |
E34G |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,898,154 (GRCm39) |
K469E |
possibly damaging |
Het |
| Them7 |
T |
A |
2: 105,128,190 (GRCm39) |
L57Q |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,849,978 (GRCm39) |
A897V |
probably damaging |
Het |
| Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,831,332 (GRCm39) |
Q1399L |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,677,015 (GRCm39) |
E11074* |
probably null |
Het |
| Ubash3b |
G |
A |
9: 40,954,781 (GRCm39) |
A243V |
probably benign |
Het |
| Vash1 |
G |
A |
12: 86,726,952 (GRCm39) |
R64Q |
possibly damaging |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,981 (GRCm39) |
M12L |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,562 (GRCm39) |
H645L |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,722 (GRCm39) |
I697K |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,308,126 (GRCm39) |
I704T |
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 |
|
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 |
|
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'- GCCTGAGCTTTCAGATGCTG -3'
(R):5'- TACTAGTCTGGCCAGGGTAG -3'
Sequencing Primer
(F):5'- AGCTTTCAGATGCTGGGGTTTG -3'
(R):5'- TTCGCTGAAGGCATCACC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation