Incidental Mutation 'R1697:Loxl4'
| ID |
192369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl4
|
| Ensembl Gene |
ENSMUSG00000025185 |
| Gene Name |
lysyl oxidase-like 4 |
| Synonyms |
4833426I20Rik |
| MMRRC Submission |
039730-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1697 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42593379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 264
(V264A)
|
| 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: V264A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: V264A
| 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 |
possibly damaging
Transcript: ENSMUST00000164786
AA Change: V264A
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: V264A
| 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: V264A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: V264A
| 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 |
|
| Meta Mutation Damage Score |
0.0911 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
99% (67/68) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,928 (GRCm39) |
D250E |
probably damaging |
Het |
| 4930571K23Rik |
A |
G |
7: 124,968,201 (GRCm39) |
|
noncoding transcript |
Het |
| Acsl3 |
T |
C |
1: 78,683,114 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,220,792 (GRCm39) |
T244K |
probably damaging |
Het |
| Adam26b |
T |
A |
8: 43,974,000 (GRCm39) |
N334I |
probably damaging |
Het |
| Adgrl4 |
C |
T |
3: 151,223,248 (GRCm39) |
T608M |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,716,404 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,599,436 (GRCm39) |
T1890A |
possibly damaging |
Het |
| Capn7 |
C |
T |
14: 31,082,117 (GRCm39) |
T441M |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,441,367 (GRCm39) |
C85S |
probably damaging |
Het |
| Chrm3 |
T |
C |
13: 9,928,794 (GRCm39) |
T81A |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,757,376 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,503,808 (GRCm39) |
D950V |
probably damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,530 (GRCm39) |
V422A |
probably damaging |
Het |
| Enthd1 |
A |
G |
15: 80,337,124 (GRCm39) |
S437P |
probably damaging |
Het |
| Fads1 |
A |
G |
19: 10,171,464 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,856,176 (GRCm39) |
I3869L |
probably benign |
Het |
| Fbxw5 |
T |
A |
2: 25,392,473 (GRCm39) |
V85E |
possibly damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,772 (GRCm39) |
C1579S |
probably damaging |
Het |
| Fem1b |
T |
C |
9: 62,704,456 (GRCm39) |
D268G |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,225 (GRCm39) |
L1772P |
probably damaging |
Het |
| Gtf3a |
C |
A |
5: 146,888,723 (GRCm39) |
Q145K |
possibly damaging |
Het |
| Hacl1 |
T |
C |
14: 31,342,957 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
A |
7: 55,803,653 (GRCm39) |
F2229L |
probably benign |
Het |
| Hs3st4 |
A |
T |
7: 123,996,080 (GRCm39) |
I249L |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,786,752 (GRCm39) |
Y7* |
probably null |
Het |
| Irag2 |
A |
G |
6: 145,083,341 (GRCm39) |
|
probably benign |
Het |
| Klk1b1 |
T |
A |
7: 43,619,750 (GRCm39) |
M103K |
probably benign |
Het |
| Krt5 |
A |
G |
15: 101,619,020 (GRCm39) |
V287A |
probably benign |
Het |
| Lgals12 |
T |
A |
19: 7,581,530 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,712,695 (GRCm39) |
D3099G |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,984,369 (GRCm39) |
T169I |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,540 (GRCm39) |
|
probably benign |
Het |
| Myef2l |
G |
A |
3: 10,154,613 (GRCm39) |
V461I |
possibly damaging |
Het |
| Myh7b |
A |
C |
2: 155,462,054 (GRCm39) |
S317R |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nsd1 |
A |
T |
13: 55,361,872 (GRCm39) |
|
probably null |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or1j17 |
C |
T |
2: 36,578,259 (GRCm39) |
L82F |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,392,502 (GRCm39) |
S293R |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,270 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,929 (GRCm39) |
I15N |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,737 (GRCm39) |
T186A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,577,087 (GRCm39) |
Y982H |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,541 (GRCm39) |
L312P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,267,710 (GRCm39) |
P754S |
probably damaging |
Het |
| Ppp2r5c |
T |
A |
12: 110,512,057 (GRCm39) |
L145* |
probably null |
Het |
| Ppp2r5c |
T |
A |
12: 110,527,906 (GRCm39) |
|
probably benign |
Het |
| Pramel29 |
A |
C |
4: 143,935,162 (GRCm39) |
I193S |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,239,446 (GRCm39) |
M553V |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,715,514 (GRCm39) |
D664E |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,887,391 (GRCm39) |
A99T |
probably benign |
Het |
| Stim1 |
T |
G |
7: 102,003,713 (GRCm39) |
C49G |
probably damaging |
Het |
| Stk32c |
T |
C |
7: 138,701,740 (GRCm39) |
I238V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tfb2m |
T |
A |
1: 179,372,464 (GRCm39) |
E133V |
probably null |
Het |
| Tmem209 |
A |
T |
6: 30,497,867 (GRCm39) |
C143S |
probably benign |
Het |
| Tnr |
T |
G |
1: 159,679,600 (GRCm39) |
N191K |
probably benign |
Het |
| Vars1 |
C |
T |
17: 35,217,198 (GRCm39) |
A419T |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,041 (GRCm39) |
S819G |
probably benign |
Het |
| Wls |
T |
C |
3: 159,602,995 (GRCm39) |
V136A |
probably benign |
Het |
| Ybx2 |
C |
T |
11: 69,830,887 (GRCm39) |
S217L |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,756,779 (GRCm39) |
D37G |
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 |
|
|
R1145:Loxl4
|
UTSW |
19 |
42,596,994 (GRCm39) |
unclassified |
probably benign |
|
|
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'- TTCCCAAGGAGTCCAGCTCCTC -3'
(R):5'- GGAAGAGCAGCCATCCCTATCTGTG -3'
Sequencing Primer
(F):5'- TCTACCCCACTGAGCAGG -3'
(R):5'- ctcccccctcctcttatcc -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation