Incidental Mutation 'R4030:Loxl4'
ID |
313207 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl4
|
Ensembl Gene |
ENSMUSG00000025185 |
Gene Name |
lysyl oxidase-like 4 |
Synonyms |
4833426I20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4030 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 42596798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 71
(V71E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126552
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000166128]
[ENSMUST00000171432]
|
AlphaFold |
Q924C6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026190
AA Change: V58E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026190 Gene: ENSMUSG00000025185 AA Change: V58E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SR
|
33 |
134 |
1.57e-49 |
SMART |
SR
|
160 |
288 |
3.96e-14 |
SMART |
SR
|
312 |
412 |
2.6e-41 |
SMART |
SR
|
422 |
530 |
5.41e-30 |
SMART |
Pfam:Lysyl_oxidase
|
534 |
737 |
1.3e-113 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164786
AA Change: V58E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125803 Gene: ENSMUSG00000025185 AA Change: V58E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SR
|
33 |
134 |
1.57e-49 |
SMART |
SR
|
160 |
288 |
3.96e-14 |
SMART |
SR
|
313 |
413 |
2.6e-41 |
SMART |
SR
|
423 |
531 |
5.41e-30 |
SMART |
Pfam:Lysyl_oxidase
|
535 |
735 |
1.8e-101 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166128
AA Change: V71E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126552 Gene: ENSMUSG00000025185 AA Change: V71E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
SR
|
46 |
147 |
1.57e-49 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171432
AA Change: V58E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126686 Gene: ENSMUSG00000025185 AA Change: V58E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SR
|
33 |
134 |
1.57e-49 |
SMART |
SR
|
160 |
288 |
3.96e-14 |
SMART |
SR
|
312 |
412 |
2.6e-41 |
SMART |
SR
|
422 |
530 |
5.41e-30 |
SMART |
Pfam:Lysyl_oxidase
|
534 |
737 |
1.3e-113 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
2700062C07Rik |
C |
T |
18: 24,608,715 (GRCm39) |
P145L |
probably benign |
Het |
Akap3 |
A |
T |
6: 126,841,984 (GRCm39) |
D201V |
probably damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Bpifb2 |
T |
C |
2: 153,733,237 (GRCm39) |
S400P |
probably benign |
Het |
Brd7 |
A |
T |
8: 89,059,559 (GRCm39) |
I617N |
probably damaging |
Het |
Cdhr2 |
C |
A |
13: 54,865,674 (GRCm39) |
P224Q |
probably damaging |
Het |
Cdon |
A |
G |
9: 35,403,202 (GRCm39) |
N1104S |
probably damaging |
Het |
Ceacam3 |
T |
C |
7: 16,892,267 (GRCm39) |
Y337H |
probably benign |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
Cpsf1 |
G |
A |
15: 76,485,979 (GRCm39) |
T397M |
possibly damaging |
Het |
Crhr2 |
T |
C |
6: 55,094,662 (GRCm39) |
D32G |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
Dpyd |
A |
G |
3: 118,690,815 (GRCm39) |
D308G |
probably benign |
Het |
Dsp |
A |
G |
13: 38,375,404 (GRCm39) |
N1063S |
possibly damaging |
Het |
E030030I06Rik |
C |
A |
10: 22,024,899 (GRCm39) |
G5C |
unknown |
Het |
Ehbp1 |
T |
C |
11: 22,235,498 (GRCm39) |
T32A |
probably damaging |
Het |
Fbxo9 |
C |
A |
9: 78,005,623 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
G |
A |
4: 133,305,458 (GRCm39) |
R231H |
possibly damaging |
Het |
Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
H2-Q6 |
C |
A |
17: 35,644,792 (GRCm39) |
Q194K |
probably benign |
Het |
Hmgb1 |
A |
G |
5: 148,987,510 (GRCm39) |
M13T |
probably benign |
Het |
Kdm5a |
T |
A |
6: 120,382,074 (GRCm39) |
L706* |
probably null |
Het |
Krt12 |
A |
T |
11: 99,312,854 (GRCm39) |
F63L |
unknown |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,820,096 (GRCm39) |
S102P |
probably benign |
Het |
Lrrc36 |
A |
C |
8: 106,153,439 (GRCm39) |
N83T |
probably damaging |
Het |
Med26 |
G |
A |
8: 73,250,413 (GRCm39) |
R229C |
probably damaging |
Het |
Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
Mroh8 |
T |
A |
2: 157,055,640 (GRCm39) |
D986V |
probably damaging |
Het |
Mrpl49 |
T |
C |
19: 6,105,230 (GRCm39) |
D77G |
probably benign |
Het |
Mrps30 |
T |
C |
13: 118,517,077 (GRCm39) |
N381D |
probably damaging |
Het |
Mrtfa |
G |
A |
15: 80,899,985 (GRCm39) |
T729I |
probably benign |
Het |
Omd |
T |
A |
13: 49,743,125 (GRCm39) |
N58K |
probably benign |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Or4a75 |
C |
A |
2: 89,448,207 (GRCm39) |
V110F |
probably damaging |
Het |
Plpp5 |
T |
A |
8: 26,210,631 (GRCm39) |
L74Q |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,278,792 (GRCm39) |
Y1374N |
probably benign |
Het |
Rbak |
A |
T |
5: 143,159,724 (GRCm39) |
I443K |
probably damaging |
Het |
Rhpn1 |
A |
T |
15: 75,582,406 (GRCm39) |
S195C |
probably damaging |
Het |
Rnf115 |
T |
A |
3: 96,693,299 (GRCm39) |
I210N |
probably damaging |
Het |
Rock2 |
G |
A |
12: 17,025,480 (GRCm39) |
V1234I |
probably damaging |
Het |
Scube2 |
A |
G |
7: 109,430,978 (GRCm39) |
V407A |
probably benign |
Het |
Serpina3n |
G |
T |
12: 104,377,660 (GRCm39) |
|
probably null |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Slco2b1 |
A |
G |
7: 99,332,032 (GRCm39) |
L283P |
probably damaging |
Het |
Spag1 |
G |
A |
15: 36,234,447 (GRCm39) |
V736M |
probably damaging |
Het |
Srebf2 |
T |
A |
15: 82,062,984 (GRCm39) |
C434S |
probably damaging |
Het |
Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
Trhr2 |
T |
C |
8: 123,087,438 (GRCm39) |
M1V |
probably null |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,429,016 (GRCm39) |
R687G |
probably damaging |
Het |
Vmn2r73 |
T |
C |
7: 85,521,044 (GRCm39) |
Y308C |
possibly damaging |
Het |
Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
Zfyve9 |
A |
G |
4: 108,576,898 (GRCm39) |
V61A |
possibly damaging |
Het |
|
Other mutations in Loxl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01472:Loxl4
|
APN |
19 |
42,585,988 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02063:Loxl4
|
APN |
19 |
42,596,778 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02490:Loxl4
|
APN |
19 |
42,593,269 (GRCm39) |
missense |
probably benign |
|
IGL02498:Loxl4
|
APN |
19 |
42,593,412 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03107:Loxl4
|
APN |
19 |
42,593,718 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03296:Loxl4
|
APN |
19 |
42,587,262 (GRCm39) |
splice site |
probably benign |
|
R1145:Loxl4
|
UTSW |
19 |
42,596,994 (GRCm39) |
unclassified |
probably benign |
|
R1697:Loxl4
|
UTSW |
19 |
42,593,379 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2126:Loxl4
|
UTSW |
19 |
42,592,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Loxl4
|
UTSW |
19 |
42,592,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R2148:Loxl4
|
UTSW |
19 |
42,592,631 (GRCm39) |
splice site |
probably null |
|
R2159:Loxl4
|
UTSW |
19 |
42,588,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R3624:Loxl4
|
UTSW |
19 |
42,596,015 (GRCm39) |
missense |
probably benign |
0.28 |
R4181:Loxl4
|
UTSW |
19 |
42,596,030 (GRCm39) |
missense |
probably benign |
0.00 |
R4302:Loxl4
|
UTSW |
19 |
42,596,030 (GRCm39) |
missense |
probably benign |
0.00 |
R4700:Loxl4
|
UTSW |
19 |
42,596,052 (GRCm39) |
missense |
probably benign |
0.07 |
R4701:Loxl4
|
UTSW |
19 |
42,596,052 (GRCm39) |
missense |
probably benign |
0.07 |
R4719:Loxl4
|
UTSW |
19 |
42,596,030 (GRCm39) |
missense |
probably benign |
0.00 |
R4724:Loxl4
|
UTSW |
19 |
42,596,785 (GRCm39) |
missense |
probably benign |
0.23 |
R4750:Loxl4
|
UTSW |
19 |
42,593,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R4953:Loxl4
|
UTSW |
19 |
42,599,133 (GRCm39) |
unclassified |
probably benign |
|
R5579:Loxl4
|
UTSW |
19 |
42,592,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R5840:Loxl4
|
UTSW |
19 |
42,587,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R5856:Loxl4
|
UTSW |
19 |
42,583,805 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5879:Loxl4
|
UTSW |
19 |
42,596,066 (GRCm39) |
missense |
probably benign |
0.09 |
R6137:Loxl4
|
UTSW |
19 |
42,587,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Loxl4
|
UTSW |
19 |
42,596,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R6324:Loxl4
|
UTSW |
19 |
42,583,817 (GRCm39) |
missense |
probably benign |
0.00 |
R6347:Loxl4
|
UTSW |
19 |
42,596,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Loxl4
|
UTSW |
19 |
42,587,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R6788:Loxl4
|
UTSW |
19 |
42,596,792 (GRCm39) |
missense |
probably damaging |
1.00 |
R7045:Loxl4
|
UTSW |
19 |
42,595,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R8013:Loxl4
|
UTSW |
19 |
42,596,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R8072:Loxl4
|
UTSW |
19 |
42,596,021 (GRCm39) |
missense |
probably damaging |
1.00 |
R8546:Loxl4
|
UTSW |
19 |
42,596,027 (GRCm39) |
missense |
probably benign |
|
R9124:Loxl4
|
UTSW |
19 |
42,596,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:Loxl4
|
UTSW |
19 |
42,593,452 (GRCm39) |
missense |
probably benign |
0.00 |
R9286:Loxl4
|
UTSW |
19 |
42,586,047 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTATGAGAAAGAAGCTGGCTC -3'
(R):5'- TGAGTGGAAGTGGTGATCAC -3'
Sequencing Primer
(F):5'- GAAAGAAGCTGGCTCCCATGTC -3'
(R):5'- GCGCTCTGAAATCACCATGATGTG -3'
|
Posted On |
2015-04-30 |