Incidental Mutation 'IGL02063:Loxl4'
| ID |
185513 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02063
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42596778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 78
(L78I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000166128]
[ENSMUST00000171432]
|
| AlphaFold |
Q924C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026190
AA Change: L65I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: L65I
| 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
AA Change: L65I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: L65I
| 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
AA Change: L78I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000126552
Gene: ENSMUSG00000025185
AA Change: L78I
| 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
AA Change: L65I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: L65I
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg2b |
A |
G |
12: 105,614,581 (GRCm39) |
Y1117H |
possibly damaging |
Het |
| B020004C17Rik |
A |
G |
14: 57,253,480 (GRCm39) |
R24G |
probably damaging |
Het |
| BC005624 |
A |
G |
2: 30,868,946 (GRCm39) |
M76T |
probably benign |
Het |
| Blm |
G |
T |
7: 80,159,167 (GRCm39) |
S323* |
probably null |
Het |
| Card19 |
C |
A |
13: 49,356,607 (GRCm39) |
G181* |
probably null |
Het |
| Cilp2 |
T |
C |
8: 70,335,515 (GRCm39) |
I494M |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,442,579 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
C |
9: 105,934,617 (GRCm39) |
D1431G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,138,701 (GRCm39) |
C560Y |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,576,096 (GRCm39) |
S1091P |
probably damaging |
Het |
| Ddx24 |
A |
G |
12: 103,384,461 (GRCm39) |
I466T |
probably damaging |
Het |
| Dlg2 |
T |
A |
7: 91,459,684 (GRCm39) |
|
probably benign |
Het |
| Esf1 |
C |
A |
2: 140,006,377 (GRCm39) |
D257Y |
possibly damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,769,485 (GRCm39) |
F634S |
probably damaging |
Het |
| Flywch2 |
A |
G |
17: 23,996,081 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,383,906 (GRCm39) |
I32N |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,900,957 (GRCm39) |
D1448G |
possibly damaging |
Het |
| Gm10335 |
T |
C |
10: 14,399,147 (GRCm39) |
|
probably benign |
Het |
| Golga5 |
A |
T |
12: 102,438,418 (GRCm39) |
E44D |
probably benign |
Het |
| H2-M10.1 |
C |
T |
17: 36,634,901 (GRCm39) |
|
probably benign |
Het |
| Ino80b |
A |
T |
6: 83,101,143 (GRCm39) |
D141E |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,338,997 (GRCm39) |
I2593V |
probably benign |
Het |
| Krt73 |
C |
T |
15: 101,704,204 (GRCm39) |
|
probably benign |
Het |
| Mbd5 |
A |
T |
2: 49,164,779 (GRCm39) |
N360I |
probably damaging |
Het |
| Nfat5 |
A |
T |
8: 108,088,450 (GRCm39) |
M495L |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 88,762,565 (GRCm39) |
E204V |
possibly damaging |
Het |
| Or8k21 |
G |
T |
2: 86,145,137 (GRCm39) |
F164L |
possibly damaging |
Het |
| Paqr4 |
A |
T |
17: 23,958,886 (GRCm39) |
C38* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,282 (GRCm39) |
N553K |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,810 (GRCm39) |
M268K |
probably benign |
Het |
| Pdap1 |
A |
T |
5: 145,071,869 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,975,118 (GRCm39) |
Y281N |
unknown |
Het |
| Phka2 |
T |
A |
X: 159,347,209 (GRCm39) |
I664N |
possibly damaging |
Het |
| Plekha7 |
A |
T |
7: 115,739,936 (GRCm39) |
D762E |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,884 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
T |
10: 106,740,706 (GRCm39) |
Q1006L |
probably null |
Het |
| Pramel12 |
C |
A |
4: 143,144,421 (GRCm39) |
Q256K |
probably benign |
Het |
| Prmt5 |
G |
A |
14: 54,748,477 (GRCm39) |
Q197* |
probably null |
Het |
| Prodh |
A |
T |
16: 17,897,049 (GRCm39) |
|
probably null |
Het |
| Ptgr3 |
T |
A |
18: 84,113,390 (GRCm39) |
Y355* |
probably null |
Het |
| Rnft2 |
A |
G |
5: 118,380,587 (GRCm39) |
|
probably benign |
Het |
| Rp1l1 |
G |
T |
14: 64,266,985 (GRCm39) |
S857I |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,372,992 (GRCm39) |
F1423S |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,854 (GRCm39) |
Y1631H |
probably damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,765,899 (GRCm39) |
I229K |
probably damaging |
Het |
| Slco1a7 |
T |
C |
6: 141,684,615 (GRCm39) |
D280G |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,526,220 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
G |
T |
4: 135,074,518 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
C |
12: 76,098,874 (GRCm39) |
V5252A |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,627,882 (GRCm39) |
D2G |
probably benign |
Het |
| Uba1 |
T |
C |
X: 20,545,964 (GRCm39) |
S803P |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,326,605 (GRCm39) |
I202T |
possibly damaging |
Het |
| Umodl1 |
A |
T |
17: 31,206,888 (GRCm39) |
I760F |
probably benign |
Het |
| Vgll1 |
A |
G |
X: 56,144,569 (GRCm39) |
|
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,676,276 (GRCm39) |
V347A |
probably benign |
Het |
| Zswim9 |
T |
C |
7: 12,994,608 (GRCm39) |
E516G |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation