Incidental Mutation 'R9081:Loxl3'
ID |
690008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl3
|
Ensembl Gene |
ENSMUSG00000000693 |
Gene Name |
lysyl oxidase-like 3 |
Synonyms |
Lor2 |
MMRRC Submission |
068900-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.940)
|
Stock # |
R9081 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83025638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 332
(V332A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089645]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000134606]
|
AlphaFold |
Q9Z175 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000707
AA Change: V332A
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000000707 Gene: ENSMUSG00000000693 AA Change: V332A
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 damaging
Transcript: ENSMUST00000101257
AA Change: V332A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000098815 Gene: ENSMUSG00000000693 AA Change: V332A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (71/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
T |
15: 102,248,502 (GRCm39) |
V271E |
probably damaging |
Het |
Abca1 |
A |
G |
4: 53,109,162 (GRCm39) |
|
probably null |
Het |
Abcb11 |
C |
T |
2: 69,122,388 (GRCm39) |
C365Y |
possibly damaging |
Het |
Abcd2 |
A |
T |
15: 91,075,772 (GRCm39) |
W14R |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,687,468 (GRCm39) |
D250G |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,985,890 (GRCm39) |
D2391E |
possibly damaging |
Het |
Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
Cbr1 |
G |
T |
16: 93,406,994 (GRCm39) |
G237* |
probably null |
Het |
Cdr2l |
T |
A |
11: 115,284,939 (GRCm39) |
V425E |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,704,144 (GRCm39) |
K693* |
probably null |
Het |
Clgn |
T |
G |
8: 84,153,169 (GRCm39) |
D590E |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,291,387 (GRCm39) |
S952T |
unknown |
Het |
Crip3 |
T |
C |
17: 46,740,959 (GRCm39) |
L90P |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,403,636 (GRCm39) |
S2969P |
probably benign |
Het |
Dnai2 |
T |
A |
11: 114,629,493 (GRCm39) |
D173E |
probably damaging |
Het |
Dnpep |
A |
T |
1: 75,291,060 (GRCm39) |
F257Y |
probably damaging |
Het |
Egln2 |
A |
G |
7: 26,864,286 (GRCm39) |
V213A |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Eps8 |
A |
G |
6: 137,504,415 (GRCm39) |
I106T |
probably benign |
Het |
Evi5 |
A |
G |
5: 107,963,571 (GRCm39) |
F379L |
probably benign |
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Fpgs |
A |
T |
2: 32,577,500 (GRCm39) |
|
probably benign |
Het |
Garnl3 |
T |
G |
2: 32,896,920 (GRCm39) |
D573A |
possibly damaging |
Het |
Gja8 |
A |
G |
3: 96,826,676 (GRCm39) |
S329P |
probably damaging |
Het |
Gzf1 |
T |
A |
2: 148,525,317 (GRCm39) |
|
probably benign |
Het |
Hgs |
T |
A |
11: 120,366,076 (GRCm39) |
|
probably benign |
Het |
Ifi203 |
A |
G |
1: 173,757,048 (GRCm39) |
I245T |
unknown |
Het |
Ighv1-74 |
C |
A |
12: 115,766,454 (GRCm39) |
W55C |
probably damaging |
Het |
Iqcb1 |
A |
G |
16: 36,656,006 (GRCm39) |
K131R |
probably null |
Het |
Kit |
A |
T |
5: 75,801,218 (GRCm39) |
M539L |
probably benign |
Het |
Klk1 |
A |
G |
7: 43,874,952 (GRCm39) |
|
probably benign |
Het |
Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
Lama5 |
A |
T |
2: 179,833,930 (GRCm39) |
C1473* |
probably null |
Het |
Mcf2l |
T |
A |
8: 13,068,697 (GRCm39) |
Y1120N |
probably damaging |
Het |
Meioc |
G |
A |
11: 102,565,001 (GRCm39) |
V150M |
probably benign |
Het |
Mybpc1 |
T |
G |
10: 88,389,168 (GRCm39) |
Y400S |
probably damaging |
Het |
Ncmap |
T |
C |
4: 135,104,292 (GRCm39) |
|
probably benign |
Het |
Noc2l |
A |
G |
4: 156,326,224 (GRCm39) |
Y437C |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,814,881 (GRCm39) |
M330L |
probably benign |
Het |
Or10d4c |
A |
T |
9: 39,558,196 (GRCm39) |
Y58F |
probably damaging |
Het |
Or5b113 |
C |
T |
19: 13,342,019 (GRCm39) |
T9I |
probably benign |
Het |
P4ha1 |
T |
C |
10: 59,184,185 (GRCm39) |
Y216H |
probably damaging |
Het |
Pamr1 |
A |
T |
2: 102,441,933 (GRCm39) |
D174V |
probably damaging |
Het |
Pdcd1 |
C |
T |
1: 93,968,880 (GRCm39) |
|
probably null |
Het |
Plec |
A |
G |
15: 76,059,908 (GRCm39) |
V3343A |
probably damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,723,406 (GRCm39) |
I266F |
probably benign |
Het |
Poglut2 |
T |
A |
1: 44,153,966 (GRCm39) |
Q161L |
probably benign |
Het |
Ppp1r12b |
C |
T |
1: 134,705,085 (GRCm39) |
V868I |
probably benign |
Het |
Ppp2r2b |
A |
T |
18: 42,781,825 (GRCm39) |
H325Q |
probably benign |
Het |
Rif1 |
C |
T |
2: 52,000,989 (GRCm39) |
T1481I |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,357,062 (GRCm39) |
D4204V |
|
Het |
Rps6kl1 |
T |
C |
12: 85,185,881 (GRCm39) |
N409S |
probably damaging |
Het |
Rundc1 |
T |
G |
11: 101,316,053 (GRCm39) |
W42G |
probably damaging |
Het |
Sec1 |
C |
T |
7: 45,333,987 (GRCm39) |
|
probably benign |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Shc2 |
T |
C |
10: 79,462,762 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
T |
C |
10: 76,877,750 (GRCm39) |
V95A |
possibly damaging |
Het |
Slc22a5 |
A |
T |
11: 53,762,447 (GRCm39) |
D333E |
probably damaging |
Het |
Specc1 |
A |
C |
11: 62,010,051 (GRCm39) |
R522S |
possibly damaging |
Het |
Syne2 |
C |
T |
12: 76,016,290 (GRCm39) |
Q3291* |
probably null |
Het |
Taar7e |
G |
A |
10: 23,913,893 (GRCm39) |
V128I |
probably benign |
Het |
Tdrd3 |
A |
G |
14: 87,743,717 (GRCm39) |
N555S |
probably benign |
Het |
Themis |
C |
T |
10: 28,544,582 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
A |
G |
7: 64,964,010 (GRCm39) |
V945A |
possibly damaging |
Het |
Tom1 |
G |
A |
8: 75,778,151 (GRCm39) |
V78I |
probably damaging |
Het |
Usp13 |
A |
G |
3: 32,935,542 (GRCm39) |
T323A |
probably benign |
Het |
Usp49 |
T |
C |
17: 47,984,236 (GRCm39) |
S414P |
possibly damaging |
Het |
Vmn1r104 |
G |
A |
7: 20,268,378 (GRCm39) |
S206N |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,940,125 (GRCm39) |
V446E |
probably benign |
Het |
Wwc1 |
T |
C |
11: 35,782,331 (GRCm39) |
K222R |
probably benign |
Het |
Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
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 |
|
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 |
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'- TGCCATAGATCTGATGCCAC -3'
(R):5'- TGGAACTAGACCATTGCCCAG -3'
Sequencing Primer
(F):5'- TAGATCTGATGCCACCCACTATC -3'
(R):5'- TAGACCATTGCCCAGAGGACTC -3'
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Posted On |
2021-11-19 |