Incidental Mutation 'R8278:Loxl3'
ID |
638064 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl3
|
Ensembl Gene |
ENSMUSG00000000693 |
Gene Name |
lysyl oxidase-like 3 |
Synonyms |
Lor2 |
MMRRC Submission |
067701-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.942)
|
Stock # |
R8278 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 83025697 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 352
(G352C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000707]
[ENSMUST00000089645]
[ENSMUST00000101257]
[ENSMUST00000113962]
[ENSMUST00000113963]
[ENSMUST00000122955]
[ENSMUST00000134606]
|
AlphaFold |
Q9Z175 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000707
AA Change: G352C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000707 Gene: ENSMUSG00000000693 AA Change: G352C
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: G352C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098815 Gene: ENSMUSG00000000693 AA Change: G352C
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: 99.5%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,668,040 (GRCm39) |
Q477L |
probably benign |
Het |
Adcy10 |
A |
T |
1: 165,330,857 (GRCm39) |
D40V |
probably damaging |
Het |
Cab39l |
T |
C |
14: 59,776,562 (GRCm39) |
Y248H |
probably damaging |
Het |
Casr |
G |
T |
16: 36,336,011 (GRCm39) |
D99E |
probably damaging |
Het |
Cdh16 |
T |
C |
8: 105,345,107 (GRCm39) |
E364G |
probably benign |
Het |
Cep104 |
C |
T |
4: 154,068,122 (GRCm39) |
T189I |
possibly damaging |
Het |
Cfap418 |
T |
A |
4: 10,882,474 (GRCm39) |
|
probably null |
Het |
Chd7 |
T |
A |
4: 8,862,485 (GRCm39) |
|
probably null |
Het |
Chit1 |
G |
A |
1: 134,078,332 (GRCm39) |
R380Q |
probably benign |
Het |
Cpne2 |
A |
G |
8: 95,281,316 (GRCm39) |
K174R |
probably damaging |
Het |
Dchs2 |
T |
A |
3: 83,178,310 (GRCm39) |
I1121N |
probably damaging |
Het |
Fgf6 |
A |
T |
6: 126,992,781 (GRCm39) |
Y78F |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,429,832 (GRCm39) |
N320K |
probably benign |
Het |
Heatr3 |
A |
T |
8: 88,883,361 (GRCm39) |
N398I |
possibly damaging |
Het |
Hrh4 |
T |
C |
18: 13,140,284 (GRCm39) |
S60P |
probably damaging |
Het |
Ikbip |
A |
G |
10: 90,932,190 (GRCm39) |
H278R |
probably benign |
Het |
Jmy |
A |
T |
13: 93,601,224 (GRCm39) |
I394N |
probably damaging |
Het |
Klhl8 |
T |
C |
5: 104,022,107 (GRCm39) |
E314G |
probably benign |
Het |
Lhx9 |
A |
T |
1: 138,766,324 (GRCm39) |
C164S |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,928,432 (GRCm39) |
F1232S |
probably benign |
Het |
Mpnd |
A |
G |
17: 56,319,469 (GRCm39) |
T311A |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,444,025 (GRCm39) |
D132E |
probably benign |
Het |
Nck2 |
T |
C |
1: 43,593,740 (GRCm39) |
S316P |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,955,509 (GRCm39) |
S348G |
probably damaging |
Het |
Nyap1 |
C |
T |
5: 137,730,077 (GRCm39) |
R790H |
probably damaging |
Het |
Or5b124 |
C |
T |
19: 13,610,958 (GRCm39) |
T161I |
possibly damaging |
Het |
Pdcd11 |
G |
A |
19: 47,094,736 (GRCm39) |
V507I |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,375,995 (GRCm39) |
H1380R |
probably benign |
Het |
Pgap1 |
C |
T |
1: 54,529,430 (GRCm39) |
V763I |
probably benign |
Het |
Pnma8b |
G |
T |
7: 16,680,263 (GRCm39) |
V416L |
probably damaging |
Het |
Prkn |
A |
T |
17: 12,269,609 (GRCm39) |
N421Y |
probably benign |
Het |
Prpf4 |
T |
C |
4: 62,333,493 (GRCm39) |
|
probably null |
Het |
Psmb5 |
C |
T |
14: 54,855,342 (GRCm39) |
G36D |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,239 (GRCm39) |
S571P |
possibly damaging |
Het |
Rap1gap |
A |
C |
4: 137,444,748 (GRCm39) |
S254R |
probably damaging |
Het |
Rufy2 |
A |
T |
10: 62,843,472 (GRCm39) |
D492V |
probably benign |
Het |
Ryr2 |
C |
A |
13: 11,610,392 (GRCm39) |
E4145* |
probably null |
Het |
Sgsm1 |
A |
G |
5: 113,407,958 (GRCm39) |
F898L |
probably damaging |
Het |
Slc26a9 |
C |
A |
1: 131,689,514 (GRCm39) |
A487D |
possibly damaging |
Het |
Slc6a15 |
T |
C |
10: 103,229,890 (GRCm39) |
|
probably null |
Het |
Smad9 |
A |
T |
3: 54,696,687 (GRCm39) |
T251S |
probably benign |
Het |
Socs3 |
A |
T |
11: 117,858,478 (GRCm39) |
C193* |
probably null |
Het |
Sox6 |
T |
A |
7: 115,076,199 (GRCm39) |
D813V |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,929,361 (GRCm39) |
L65* |
probably null |
Het |
Taf6 |
G |
A |
5: 138,178,097 (GRCm39) |
A468V |
probably benign |
Het |
Tmem71 |
T |
C |
15: 66,426,961 (GRCm39) |
D78G |
probably damaging |
Het |
Tob2 |
T |
C |
15: 81,735,288 (GRCm39) |
N227S |
probably benign |
Het |
Trim34a |
C |
A |
7: 103,898,623 (GRCm39) |
Q180K |
probably damaging |
Het |
Ugt1a9 |
T |
C |
1: 87,999,378 (GRCm39) |
L276P |
possibly damaging |
Het |
Wdr33 |
G |
A |
18: 31,960,405 (GRCm39) |
R23Q |
possibly damaging |
Het |
Wnt7b |
T |
G |
15: 85,427,887 (GRCm39) |
N189H |
|
Het |
Zfp609 |
G |
A |
9: 65,604,804 (GRCm39) |
A1308V |
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 |
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'- CTCTTTGGGCATGGCATGTC -3'
(R):5'- ATGTTCTTGGACGGGCATCTC -3'
Sequencing Primer
(F):5'- ATGGCATGTCTCTCTTCTACAGG -3'
(R):5'- CCGAACTTCACTCAAGTGGATGG -3'
|
Posted On |
2020-07-28 |