Incidental Mutation 'IGL02490:Loxl4'
| ID |
295590 |
| 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 # |
IGL02490
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 42593269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 301
(T301A)
|
| 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
AA Change: T301A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: T301A
| 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: T301A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: T301A
| 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: T301A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: T301A
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D06Rik |
A |
G |
6: 89,078,559 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
A |
T |
8: 25,271,720 (GRCm39) |
Y562* |
probably null |
Het |
| Akr1d1 |
T |
C |
6: 37,535,423 (GRCm39) |
V269A |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,773,241 (GRCm39) |
T34A |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,226,652 (GRCm39) |
N232S |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,767 (GRCm39) |
V379I |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,822,062 (GRCm39) |
D307G |
probably damaging |
Het |
| Ces1h |
A |
G |
8: 94,083,627 (GRCm39) |
|
probably null |
Het |
| Chchd6 |
T |
A |
6: 89,361,656 (GRCm39) |
H249L |
possibly damaging |
Het |
| Clxn |
T |
A |
16: 14,734,810 (GRCm39) |
V60E |
probably benign |
Het |
| Cul1 |
T |
C |
6: 47,491,820 (GRCm39) |
V392A |
probably damaging |
Het |
| Cwc15 |
A |
T |
9: 14,413,320 (GRCm39) |
D34V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,527,446 (GRCm39) |
I264T |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,897,148 (GRCm39) |
D789G |
probably damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,291,635 (GRCm39) |
Y207N |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,268,106 (GRCm39) |
N960Y |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,359,817 (GRCm39) |
|
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,350,314 (GRCm39) |
C400* |
probably null |
Het |
| Ftmt |
A |
C |
18: 52,464,760 (GRCm39) |
R25S |
probably benign |
Het |
| Guca1b |
T |
C |
17: 47,700,190 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
T |
5: 121,456,676 (GRCm39) |
K680N |
possibly damaging |
Het |
| Hephl1 |
C |
A |
9: 14,964,981 (GRCm39) |
R1138L |
probably benign |
Het |
| Il1rl2 |
T |
A |
1: 40,395,972 (GRCm39) |
|
probably benign |
Het |
| Ints2 |
A |
T |
11: 86,124,009 (GRCm39) |
I593K |
possibly damaging |
Het |
| Iqcg |
T |
A |
16: 32,855,937 (GRCm39) |
K213* |
probably null |
Het |
| Kif1b |
T |
A |
4: 149,288,665 (GRCm39) |
S1259C |
probably benign |
Het |
| Klc1 |
C |
T |
12: 111,748,210 (GRCm39) |
T371M |
possibly damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,768,336 (GRCm39) |
L497P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,692,400 (GRCm39) |
R298W |
possibly damaging |
Het |
| Myo5a |
A |
T |
9: 75,043,737 (GRCm39) |
Y242F |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,801,573 (GRCm39) |
V784A |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,299 (GRCm39) |
Y123C |
probably damaging |
Het |
| Osbpl1a |
G |
T |
18: 13,015,341 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
A |
G |
3: 45,334,922 (GRCm39) |
Y412C |
probably damaging |
Het |
| Pfkfb2 |
T |
A |
1: 130,628,589 (GRCm39) |
Y339F |
probably damaging |
Het |
| Plcb2 |
T |
C |
2: 118,550,241 (GRCm39) |
N172D |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,463 (GRCm39) |
Y517C |
probably damaging |
Het |
| Plod2 |
G |
T |
9: 92,468,895 (GRCm39) |
A207S |
probably benign |
Het |
| Plxdc1 |
A |
T |
11: 97,845,604 (GRCm39) |
D229E |
probably benign |
Het |
| Ppp3cb |
A |
G |
14: 20,581,726 (GRCm39) |
|
probably null |
Het |
| Procr |
T |
C |
2: 155,595,352 (GRCm39) |
L52P |
probably damaging |
Het |
| Psme2b |
G |
T |
11: 48,836,946 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
A |
15: 36,054,993 (GRCm39) |
A727V |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 16,998,564 (GRCm39) |
W277R |
probably damaging |
Het |
| Rpl26 |
A |
G |
11: 68,795,216 (GRCm39) |
D112G |
probably damaging |
Het |
| Rxfp1 |
C |
A |
3: 79,559,474 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
G |
A |
14: 56,135,798 (GRCm39) |
P98L |
probably damaging |
Het |
| Sgms1 |
T |
C |
19: 32,137,543 (GRCm39) |
K8E |
probably damaging |
Het |
| Stk31 |
T |
C |
6: 49,394,469 (GRCm39) |
V277A |
probably benign |
Het |
| Trav15-1-dv6-1 |
A |
C |
14: 53,797,588 (GRCm39) |
E79A |
probably benign |
Het |
| Ttll6 |
A |
T |
11: 96,047,546 (GRCm39) |
D715V |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,542,561 (GRCm39) |
S3376P |
probably damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,761,246 (GRCm39) |
T704S |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,594,360 (GRCm39) |
H535L |
possibly damaging |
Het |
| Zfp609 |
A |
T |
9: 65,611,250 (GRCm39) |
V571D |
possibly damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,819 (GRCm39) |
Y288* |
probably null |
Het |
| Zfp993 |
T |
C |
4: 146,742,074 (GRCm39) |
S133P |
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 |
|
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 |
2015-04-16 |
Incidental Mutation