Incidental Mutation 'R9176:Loxl3'
| ID |
696668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl3
|
| Ensembl Gene |
ENSMUSG00000000693 |
| Gene Name |
lysyl oxidase-like 3 |
| Synonyms |
Lor2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.940)
|
| Stock # |
R9176 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83011186-83029547 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83026292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 460
(C460Y)
|
| 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: C460Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000000707
Gene: ENSMUSG00000000693
AA Change: C460Y
| 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: ENSMUST00000101257
|
| SMART Domains |
Protein: ENSMUSP00000098815
Gene: ENSMUSG00000000693
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,004 (GRCm39) |
D119G |
probably damaging |
Het |
| 1700123K08Rik |
T |
C |
5: 138,561,155 (GRCm39) |
D169G |
probably damaging |
Het |
| Abcd2 |
T |
G |
15: 91,075,623 (GRCm39) |
R63S |
probably benign |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,852,248 (GRCm39) |
Y678H |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,010,852 (GRCm39) |
V1750E |
possibly damaging |
Het |
| Cd300ld2 |
C |
A |
11: 114,904,772 (GRCm39) |
E32* |
probably null |
Het |
| Chuk |
A |
T |
19: 44,076,442 (GRCm39) |
L423Q |
probably damaging |
Het |
| Cisd3 |
A |
G |
11: 97,579,127 (GRCm39) |
T90A |
probably damaging |
Het |
| Cmpk2 |
T |
A |
12: 26,524,027 (GRCm39) |
S275T |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,620,730 (GRCm39) |
N936K |
probably damaging |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
T |
1: 82,463,349 (GRCm39) |
P1047Q |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,938,755 (GRCm39) |
L1321P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,297,892 (GRCm39) |
F211L |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,864,937 (GRCm39) |
Q27R |
|
Het |
| Dapk1 |
T |
C |
13: 60,866,262 (GRCm39) |
V205A |
probably damaging |
Het |
| Ddx20 |
T |
C |
3: 105,586,158 (GRCm39) |
N729S |
probably benign |
Het |
| Derl2 |
A |
G |
11: 70,904,376 (GRCm39) |
V139A |
possibly damaging |
Het |
| Dscam |
C |
T |
16: 96,486,553 (GRCm39) |
D1041N |
probably benign |
Het |
| Fbxo2 |
A |
T |
4: 148,250,147 (GRCm39) |
R226W |
probably damaging |
Het |
| Fhip1b |
A |
C |
7: 105,030,585 (GRCm39) |
H180Q |
probably benign |
Het |
| Fhip2b |
T |
C |
14: 70,826,540 (GRCm39) |
K183E |
probably benign |
Het |
| Gpr19 |
A |
G |
6: 134,846,718 (GRCm39) |
S322P |
probably damaging |
Het |
| Gvin2 |
T |
C |
7: 105,551,262 (GRCm39) |
K597E |
possibly damaging |
Het |
| Herc6 |
A |
G |
6: 57,636,663 (GRCm39) |
N793S |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,191,025 (GRCm39) |
S563T |
probably benign |
Het |
| Il1r2 |
T |
C |
1: 40,144,478 (GRCm39) |
L55P |
probably damaging |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Lims1 |
T |
G |
10: 58,254,265 (GRCm39) |
C340G |
probably damaging |
Het |
| Mapk9 |
T |
A |
11: 49,763,565 (GRCm39) |
L152* |
probably null |
Het |
| Mef2d |
T |
C |
3: 88,066,463 (GRCm39) |
V144A |
possibly damaging |
Het |
| Mertk |
A |
G |
2: 128,620,892 (GRCm39) |
D578G |
possibly damaging |
Het |
| Mettl1 |
C |
A |
10: 126,881,250 (GRCm39) |
Q254K |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,707 (GRCm39) |
E443G |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,241 (GRCm39) |
F484L |
probably damaging |
Het |
| Neurl1b |
C |
T |
17: 26,660,055 (GRCm39) |
T425I |
possibly damaging |
Het |
| Nomo1 |
G |
A |
7: 45,730,828 (GRCm39) |
V1104M |
possibly damaging |
Het |
| Or13a19 |
G |
T |
7: 139,903,121 (GRCm39) |
G170C |
probably damaging |
Het |
| Or13p8 |
T |
A |
4: 118,583,850 (GRCm39) |
Y135* |
probably null |
Het |
| Or4c10b |
T |
C |
2: 89,711,515 (GRCm39) |
V115A |
probably benign |
Het |
| Or5b95 |
A |
G |
19: 12,657,600 (GRCm39) |
M43V |
probably benign |
Het |
| Or5p57 |
A |
G |
7: 107,665,246 (GRCm39) |
V223A |
probably benign |
Het |
| Or8g20 |
T |
A |
9: 39,396,247 (GRCm39) |
M98L |
probably benign |
Het |
| Or9i2 |
A |
G |
19: 13,815,796 (GRCm39) |
V247A |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,873,274 (GRCm39) |
K1173E |
possibly damaging |
Het |
| Phkb |
T |
A |
8: 86,697,623 (GRCm39) |
N477K |
probably damaging |
Het |
| Plekha7 |
T |
G |
7: 115,739,926 (GRCm39) |
I812L |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,941,651 (GRCm39) |
T1711A |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Pomt2 |
T |
A |
12: 87,194,451 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
T |
C |
10: 44,316,123 (GRCm39) |
H671R |
probably damaging |
Het |
| Prkca |
G |
A |
11: 107,870,244 (GRCm39) |
R15C |
possibly damaging |
Het |
| Prkch |
T |
A |
12: 73,746,968 (GRCm39) |
N282K |
probably damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,702,249 (GRCm39) |
R385G |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,841,455 (GRCm39) |
M87K |
probably damaging |
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,103,689 (GRCm39) |
V1857E |
probably damaging |
Het |
| Shprh |
A |
G |
10: 11,036,320 (GRCm39) |
T386A |
probably benign |
Het |
| Slco1b2 |
T |
C |
6: 141,598,229 (GRCm39) |
L94P |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,236,728 (GRCm39) |
N90D |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,363 (GRCm39) |
T584A |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,964,664 (GRCm39) |
V74A |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,031,553 (GRCm39) |
N1124D |
probably null |
Het |
| Trpv1 |
A |
T |
11: 73,130,481 (GRCm39) |
T196S |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,974,128 (GRCm39) |
E968G |
probably benign |
Het |
| Zbtb8a |
G |
T |
4: 129,254,221 (GRCm39) |
T91K |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,559,163 (GRCm39) |
V459E |
probably damaging |
Het |
| Zfp790 |
A |
G |
7: 29,529,387 (GRCm39) |
T691A |
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 |
|
R9081:Loxl3
|
UTSW |
6 |
83,025,638 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
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'- AGGTCTTTCTACTCAGGCCC -3'
(R):5'- ATTCCCTGAGTCCCAGTACC -3'
Sequencing Primer
(F):5'- ACAGCCCTGCCATCTGTGAG -3'
(R):5'- TGAGTCCCAGTACCAGGTCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation