Incidental Mutation 'R6646:Loxl4'
ID |
527996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl4
|
Ensembl Gene |
ENSMUSG00000025185 |
Gene Name |
lysyl oxidase-like 4 |
Synonyms |
4833426I20Rik |
MMRRC Submission |
044767-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6646 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42587220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 625
(D625G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000171432]
|
AlphaFold |
Q924C6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026190
AA Change: D625G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026190 Gene: ENSMUSG00000025185 AA Change: D625G
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 |
noncoding transcript
Transcript: ENSMUST00000164014
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164786
AA Change: D626G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125803 Gene: ENSMUSG00000025185 AA Change: D626G
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: ENSMUST00000171432
AA Change: D625G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126686 Gene: ENSMUSG00000025185 AA Change: D625G
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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
100% (41/41) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
Dennd6b |
G |
T |
15: 89,070,387 (GRCm39) |
F427L |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
probably null |
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 |
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 |
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'- GGCTAGAATATTCAAGAGCCTAGGG -3'
(R):5'- TCTGTGACCATGCTCATCTTGG -3'
Sequencing Primer
(F):5'- GCCTAGGGCTATTGGACAGG -3'
(R):5'- ACCATGCTCATCTTGGACTTAGGAG -3'
|
Posted On |
2018-07-24 |