Incidental Mutation 'R4179:Loxl3'
| ID |
319624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl3
|
| Ensembl Gene |
ENSMUSG00000000693 |
| Gene Name |
lysyl oxidase-like 3 |
| Synonyms |
Lor2 |
| MMRRC Submission |
041015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R4179 (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 83014565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 158
(V158I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089651]
[ENSMUST00000101257]
[ENSMUST00000149918]
|
| AlphaFold |
Q9Z175 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000707
AA Change: V158I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: V158I
| 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 |
probably benign
Transcript: ENSMUST00000101257
AA Change: V158I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
AA Change: V158I
| 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 |
noncoding transcript
Transcript: ENSMUST00000152679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204318
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,128 (GRCm39) |
M506V |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,204,242 (GRCm39) |
M290K |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,289,821 (GRCm39) |
L34Q |
probably damaging |
Het |
| Cdadc1 |
G |
T |
14: 59,829,935 (GRCm39) |
T77N |
probably benign |
Het |
| Cmtr2 |
C |
G |
8: 110,947,669 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
A |
T |
10: 116,334,048 (GRCm39) |
V374E |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,054,120 (GRCm39) |
M1T |
probably null |
Het |
| Ctsb |
A |
G |
14: 63,370,901 (GRCm39) |
N38D |
probably benign |
Het |
| Dock10 |
A |
C |
1: 80,488,134 (GRCm39) |
S2010A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Eci1 |
T |
C |
17: 24,655,251 (GRCm39) |
W119R |
probably damaging |
Het |
| Foxo1 |
C |
A |
3: 52,252,840 (GRCm39) |
D334E |
probably benign |
Het |
| Gck |
T |
C |
11: 5,860,295 (GRCm39) |
T116A |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,726,109 (GRCm39) |
V588A |
probably benign |
Het |
| Gm7168 |
A |
G |
17: 14,169,265 (GRCm39) |
I211V |
probably benign |
Het |
| Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
| Jag1 |
A |
G |
2: 136,943,578 (GRCm39) |
F206S |
probably damaging |
Het |
| Ly6g |
A |
G |
15: 75,027,567 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,685 (GRCm39) |
F532L |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,084,086 (GRCm39) |
H498Y |
possibly damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,387 (GRCm39) |
I226T |
probably benign |
Het |
| Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
| Pcdha2 |
T |
A |
18: 37,074,529 (GRCm39) |
L720Q |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,168 (GRCm39) |
M54K |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,130,590 (GRCm39) |
*71W |
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,387,045 (GRCm39) |
Y1306S |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Prkd1 |
C |
A |
12: 50,413,231 (GRCm39) |
G647C |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,606,729 (GRCm39) |
I1510T |
probably benign |
Het |
| Ranbp3l |
T |
C |
15: 9,057,279 (GRCm39) |
I314T |
possibly damaging |
Het |
| Rgs9 |
C |
A |
11: 109,172,274 (GRCm39) |
|
probably null |
Het |
| Riok1 |
T |
C |
13: 38,232,931 (GRCm39) |
F216L |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,106,405 (GRCm39) |
I308N |
probably damaging |
Het |
| Serpina1f |
A |
T |
12: 103,658,179 (GRCm39) |
M242K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,366,770 (GRCm39) |
M576I |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,636,435 (GRCm39) |
N87I |
probably damaging |
Het |
| Spink5 |
A |
T |
18: 44,120,934 (GRCm39) |
Q296L |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
T |
A |
7: 45,384,735 (GRCm39) |
I114F |
probably damaging |
Het |
| Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,711,678 (GRCm39) |
V365A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,687,091 (GRCm39) |
L683P |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,800,875 (GRCm39) |
L146P |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,750 (GRCm39) |
Y392C |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,888,601 (GRCm39) |
I828N |
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 |
|
|
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'- TGAGGCCACCATTACTGTCAG -3'
(R):5'- TTTCCAAGTGTCCCAGAAATCC -3'
Sequencing Primer
(F):5'- AGCCATCCTCAAACACTTCTTG -3'
(R):5'- GTGTCCCAGAAATCCACATTATC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation