Incidental Mutation 'IGL03107:Loxl4'
| ID |
419030 |
| 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 # |
IGL03107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 42593718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 224
(V224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000166128]
[ENSMUST00000171432]
|
| AlphaFold |
Q924C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026190
AA Change: V224G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: V224G
| 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 benign
Transcript: ENSMUST00000164786
AA Change: V224G
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: V224G
| 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
AA Change: V224G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: V224G
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,518 (GRCm39) |
|
noncoding transcript |
Het |
| Angpt4 |
A |
G |
2: 151,785,342 (GRCm39) |
M453V |
probably benign |
Het |
| Atr |
T |
A |
9: 95,779,783 (GRCm39) |
D1380E |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,278,438 (GRCm39) |
M177K |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,379,280 (GRCm39) |
I203N |
probably damaging |
Het |
| Cerk |
A |
T |
15: 86,027,014 (GRCm39) |
N165K |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,242,869 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
T |
2: 37,681,428 (GRCm39) |
D757V |
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,701,376 (GRCm39) |
D91G |
probably damaging |
Het |
| Dnajc6 |
G |
T |
4: 101,474,057 (GRCm39) |
W486L |
probably damaging |
Het |
| Elmod1 |
C |
T |
9: 53,841,507 (GRCm39) |
|
probably benign |
Het |
| Ercc3 |
G |
T |
18: 32,381,360 (GRCm39) |
R392L |
possibly damaging |
Het |
| Fam135b |
C |
T |
15: 71,335,410 (GRCm39) |
V595I |
probably benign |
Het |
| Fem1al |
T |
A |
11: 29,774,360 (GRCm39) |
I366F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,775,059 (GRCm39) |
S256T |
probably damaging |
Het |
| Fstl5 |
G |
T |
3: 76,443,618 (GRCm39) |
C321F |
probably damaging |
Het |
| Gpatch1 |
T |
G |
7: 35,002,742 (GRCm39) |
N256T |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,581 (GRCm39) |
S425R |
probably damaging |
Het |
| Igkv4-57-1 |
T |
G |
6: 69,521,574 (GRCm39) |
M43L |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,004,427 (GRCm39) |
Q238R |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,588,510 (GRCm39) |
D1042E |
probably benign |
Het |
| Lcn8 |
G |
A |
2: 25,545,377 (GRCm39) |
G156D |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,285,177 (GRCm39) |
D3827V |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,073,837 (GRCm39) |
R231S |
probably benign |
Het |
| Or2g1 |
G |
A |
17: 38,106,679 (GRCm39) |
V115I |
probably benign |
Het |
| Or5b105 |
A |
T |
19: 13,080,401 (GRCm39) |
M89K |
probably benign |
Het |
| Or6c211 |
A |
G |
10: 129,505,809 (GRCm39) |
M193T |
probably benign |
Het |
| Or6d13 |
T |
G |
6: 116,517,900 (GRCm39) |
M162R |
possibly damaging |
Het |
| Or8g54 |
T |
G |
9: 39,707,475 (GRCm39) |
M268R |
probably benign |
Het |
| Pappa |
T |
G |
4: 65,122,940 (GRCm39) |
S758R |
probably damaging |
Het |
| Pced1a |
G |
A |
2: 130,264,755 (GRCm39) |
T61I |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,250,594 (GRCm39) |
D731G |
probably damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,934,054 (GRCm39) |
D761N |
probably benign |
Het |
| Pmp22 |
T |
C |
11: 63,049,135 (GRCm39) |
V126A |
probably benign |
Het |
| Ppp6r2 |
G |
T |
15: 89,152,748 (GRCm39) |
R296S |
probably damaging |
Het |
| Prkcq |
A |
C |
2: 11,265,597 (GRCm39) |
H438P |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,774,624 (GRCm39) |
Y2339F |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,765,686 (GRCm39) |
|
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,955,312 (GRCm39) |
I144F |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,806,793 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
A |
15: 32,669,554 (GRCm39) |
Y693N |
probably damaging |
Het |
| Sin3b |
T |
A |
8: 73,480,213 (GRCm39) |
I905K |
probably damaging |
Het |
| Slc13a3 |
T |
A |
2: 165,279,227 (GRCm39) |
M195L |
probably benign |
Het |
| Strada |
A |
G |
11: 106,054,863 (GRCm39) |
|
probably benign |
Het |
| Stx18 |
G |
A |
5: 38,293,655 (GRCm39) |
V294M |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,983,845 (GRCm39) |
N197K |
probably benign |
Het |
| Tdrd9 |
A |
T |
12: 112,009,274 (GRCm39) |
H1060L |
probably damaging |
Het |
| Tm4sf5 |
G |
A |
11: 70,396,223 (GRCm39) |
V23M |
possibly damaging |
Het |
| Tmem54 |
C |
A |
4: 129,004,705 (GRCm39) |
L187I |
probably damaging |
Het |
| Tmprss5 |
A |
G |
9: 49,024,528 (GRCm39) |
H281R |
possibly damaging |
Het |
| Trim30c |
A |
G |
7: 104,031,820 (GRCm39) |
Y332H |
possibly damaging |
Het |
| Uba6 |
T |
A |
5: 86,275,633 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,670,613 (GRCm39) |
P1912Q |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation