Incidental Mutation 'R4302:Loxl4'
ID |
322477 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl4
|
Ensembl Gene |
ENSMUSG00000025185 |
Gene Name |
lysyl oxidase-like 4 |
Synonyms |
4833426I20Rik |
MMRRC Submission |
041089-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4302 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 42596030 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 141
(Y141F)
|
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: Y141F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026190 Gene: ENSMUSG00000025185 AA Change: Y141F
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: Y141F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125803 Gene: ENSMUSG00000025185 AA Change: Y141F
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: Y141F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126686 Gene: ENSMUSG00000025185 AA Change: Y141F
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 |
0.0612 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (42/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,929,645 (GRCm39) |
Q217* |
probably null |
Het |
Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
Creb3l1 |
T |
C |
2: 91,823,664 (GRCm39) |
I183V |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,077,880 (GRCm39) |
S2941T |
probably benign |
Het |
Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
Hcfc1 |
A |
G |
X: 72,992,972 (GRCm39) |
S1398P |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,226,171 (GRCm39) |
I2501V |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
Mgam |
A |
G |
6: 40,740,019 (GRCm39) |
D1664G |
probably benign |
Het |
Mill2 |
A |
T |
7: 18,590,456 (GRCm39) |
T179S |
probably damaging |
Het |
Ncf4 |
T |
C |
15: 78,144,962 (GRCm39) |
|
probably benign |
Het |
Nol12 |
T |
C |
15: 78,824,341 (GRCm39) |
S154P |
probably damaging |
Het |
Nup58 |
A |
G |
14: 60,484,875 (GRCm39) |
S50P |
probably benign |
Het |
Or11j4 |
T |
C |
14: 50,630,903 (GRCm39) |
I230T |
probably benign |
Het |
Or12d16-ps1 |
T |
A |
17: 37,706,377 (GRCm39) |
N315K |
probably benign |
Het |
Or7g30 |
A |
G |
9: 19,352,295 (GRCm39) |
T29A |
probably benign |
Het |
Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
Rhpn2 |
A |
G |
7: 35,090,270 (GRCm39) |
T631A |
probably benign |
Het |
Rps11 |
T |
C |
7: 44,772,368 (GRCm39) |
M80V |
probably benign |
Het |
Rrm1 |
T |
C |
7: 102,097,031 (GRCm39) |
Y104H |
probably benign |
Het |
Sgsm3 |
T |
A |
15: 80,894,502 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
A |
T |
16: 45,365,154 (GRCm39) |
L162F |
probably benign |
Het |
Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
Stk24 |
A |
G |
14: 121,529,494 (GRCm39) |
L386S |
probably benign |
Het |
Tfcp2 |
G |
T |
15: 100,412,730 (GRCm39) |
N307K |
possibly damaging |
Het |
Trbv21 |
T |
A |
6: 41,179,702 (GRCm39) |
V6D |
probably benign |
Het |
Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r38 |
A |
G |
7: 9,100,562 (GRCm39) |
|
probably null |
Het |
Vps8 |
T |
A |
16: 21,314,664 (GRCm39) |
L158Q |
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 |
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 |
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'- AGCAGTTTCTCAGGTCCCAC -3'
(R):5'- TAATGTCCCACCAGAGAGAAAG -3'
Sequencing Primer
(F):5'- ACCAGGCCTAGTGTCTGGTC -3'
(R):5'- GAGAAAGCAGCCTCTCTCG -3'
|
Posted On |
2015-06-20 |