Incidental Mutation 'R1145:Loxl4'
ID |
165084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl4
|
Ensembl Gene |
ENSMUSG00000025185 |
Gene Name |
lysyl oxidase-like 4 |
Synonyms |
4833426I20Rik |
MMRRC Submission |
039218-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1145 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 42596994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000166128]
[ENSMUST00000171432]
|
AlphaFold |
Q924C6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026190
|
SMART Domains |
Protein: ENSMUSP00000026190 Gene: ENSMUSG00000025185
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 benign
Transcript: ENSMUST00000164786
|
SMART Domains |
Protein: ENSMUSP00000125803 Gene: ENSMUSG00000025185
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 benign
Transcript: ENSMUST00000166128
|
SMART Domains |
Protein: ENSMUSP00000126552 Gene: ENSMUSG00000025185
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
SR
|
46 |
147 |
1.57e-49 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171432
|
SMART Domains |
Protein: ENSMUSP00000126686 Gene: ENSMUSG00000025185
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: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 88.4%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
C |
16: 56,488,639 (GRCm39) |
S1257P |
possibly damaging |
Het |
AC159637.1 |
C |
T |
12: 93,895,054 (GRCm39) |
|
noncoding transcript |
Het |
Agk |
T |
C |
6: 40,329,372 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
C |
A |
6: 43,250,022 (GRCm39) |
Q258K |
possibly damaging |
Het |
C1s1 |
C |
A |
6: 124,517,759 (GRCm39) |
D74Y |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,659,377 (GRCm39) |
S497P |
probably damaging |
Het |
Ctsj |
C |
T |
13: 61,150,357 (GRCm39) |
S214N |
probably damaging |
Het |
Dnali1 |
T |
C |
4: 124,959,340 (GRCm39) |
S18G |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,893,129 (GRCm39) |
T959M |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,727,430 (GRCm39) |
F1231L |
probably benign |
Het |
Glp1r |
T |
C |
17: 31,138,406 (GRCm39) |
V160A |
probably benign |
Het |
Gm11143 |
T |
G |
6: 69,594,392 (GRCm39) |
V60G |
unknown |
Het |
Hmcn1 |
A |
T |
1: 150,555,358 (GRCm39) |
|
probably null |
Het |
Inpp5k |
T |
C |
11: 75,524,285 (GRCm39) |
|
probably benign |
Het |
Krtdap |
A |
T |
7: 30,488,975 (GRCm39) |
|
probably benign |
Het |
Ldb2 |
A |
G |
5: 44,690,016 (GRCm39) |
L201P |
probably damaging |
Het |
Odad2 |
G |
T |
18: 7,268,436 (GRCm39) |
P361Q |
probably damaging |
Het |
Otud6b |
T |
A |
4: 14,812,532 (GRCm39) |
T272S |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,329 (GRCm39) |
Y44H |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,289,169 (GRCm39) |
R884H |
probably damaging |
Het |
Slc43a2 |
T |
A |
11: 75,457,815 (GRCm39) |
Y363* |
probably null |
Het |
Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
A |
17: 34,434,914 (GRCm39) |
D652E |
possibly damaging |
Het |
Unc80 |
T |
C |
1: 66,511,247 (GRCm39) |
V85A |
probably damaging |
Het |
Vwa3a |
T |
C |
7: 120,392,566 (GRCm39) |
Y802H |
probably damaging |
Het |
Zc3h4 |
G |
A |
7: 16,150,838 (GRCm39) |
R60Q |
possibly damaging |
Het |
Zfp385a |
A |
T |
15: 103,226,370 (GRCm39) |
|
probably benign |
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 |
|
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 |
R4030:Loxl4
|
UTSW |
19 |
42,596,798 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGAGAGCGAAGTCATCATCACACAC -3'
(R):5'- AACATGCCATCCAAGCTGGGGAAG -3'
Sequencing Primer
(F):5'- GTCATCATCACACACCGTGC -3'
(R):5'- AGTGAAAGACCCTGTTGCTC -3'
|
Posted On |
2014-03-28 |