Incidental Mutation 'R6324:Loxl4'
| ID |
510677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl4
|
| Ensembl Gene |
ENSMUSG00000025185 |
| Gene Name |
lysyl oxidase-like 4 |
| Synonyms |
4833426I20Rik |
| MMRRC Submission |
044478-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 42583817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 745
(L745F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026188]
[ENSMUST00000026190]
[ENSMUST00000160107]
[ENSMUST00000164786]
[ENSMUST00000171432]
|
| AlphaFold |
Q924C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026188
|
| SMART Domains |
Protein: ENSMUSP00000026188
Gene: ENSMUSG00000025184
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
163 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
|
coiled coil region
|
734 |
766 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026190
AA Change: L744F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: L744F
| 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: ENSMUST00000160107
|
| SMART Domains |
Protein: ENSMUSP00000124036
Gene: ENSMUSG00000025184
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
coiled coil region
|
154 |
186 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164786
AA Change: L745F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: L745F
| 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: ENSMUST00000171432
AA Change: L744F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: L744F
| 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 |
0.0649 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
96% (47/49) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Atp13a3 |
A |
G |
16: 30,151,103 (GRCm39) |
V1069A |
possibly damaging |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,737,292 (GRCm39) |
S1877P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,120,648 (GRCm39) |
S383T |
probably benign |
Het |
| Cr1l |
A |
G |
1: 194,793,430 (GRCm39) |
V377A |
probably benign |
Het |
| Dazap1 |
A |
G |
10: 80,113,494 (GRCm39) |
E130G |
probably benign |
Het |
| Dchs1 |
G |
T |
7: 105,414,145 (GRCm39) |
A890E |
probably benign |
Het |
| Dock10 |
G |
A |
1: 80,482,893 (GRCm39) |
T2143I |
probably benign |
Het |
| Eif3j1 |
A |
G |
2: 121,871,659 (GRCm39) |
D60G |
probably benign |
Het |
| Enah |
A |
G |
1: 181,746,136 (GRCm39) |
S382P |
probably damaging |
Het |
| Fam171b |
A |
T |
2: 83,709,608 (GRCm39) |
K427* |
probably null |
Het |
| Fmn2 |
A |
T |
1: 174,440,119 (GRCm39) |
I1179L |
possibly damaging |
Het |
| Focad |
C |
T |
4: 88,319,305 (GRCm39) |
R1505* |
probably null |
Het |
| Frem1 |
T |
C |
4: 82,901,574 (GRCm39) |
T985A |
probably benign |
Het |
| Gm3404 |
A |
T |
5: 146,464,917 (GRCm39) |
Q219L |
possibly damaging |
Het |
| Gm5592 |
A |
C |
7: 40,935,959 (GRCm39) |
S154R |
probably damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,815,365 (GRCm39) |
E586G |
probably damaging |
Het |
| Gstp2 |
A |
T |
19: 4,090,499 (GRCm39) |
I162N |
probably benign |
Het |
| Lin7a |
T |
A |
10: 107,216,076 (GRCm39) |
|
probably null |
Het |
| Ms4a19 |
T |
A |
19: 11,140,811 (GRCm39) |
M3L |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,404,481 (GRCm39) |
I172T |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,647,161 (GRCm39) |
W571R |
possibly damaging |
Het |
| Nkx2-5 |
G |
C |
17: 27,060,095 (GRCm39) |
P79A |
probably benign |
Het |
| Nufip2 |
A |
G |
11: 77,582,487 (GRCm39) |
T134A |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,134 (GRCm39) |
E203G |
probably damaging |
Het |
| Or13p4 |
G |
A |
4: 118,547,728 (GRCm39) |
|
probably benign |
Het |
| Or5al1 |
C |
T |
2: 85,989,800 (GRCm39) |
V305I |
probably benign |
Het |
| Or5b109 |
A |
G |
19: 13,212,468 (GRCm39) |
M285V |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,745,171 (GRCm39) |
D616G |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prl7b1 |
A |
T |
13: 27,786,878 (GRCm39) |
|
probably null |
Het |
| Prop1 |
G |
A |
11: 50,843,026 (GRCm39) |
P54S |
probably benign |
Het |
| Ptcd3 |
C |
T |
6: 71,862,311 (GRCm39) |
V509I |
probably benign |
Het |
| Ptprg |
T |
A |
14: 12,226,314 (GRCm38) |
D527E |
probably damaging |
Het |
| Rapgef2 |
C |
T |
3: 78,986,439 (GRCm39) |
V1182I |
probably benign |
Het |
| Rfx7 |
C |
A |
9: 72,525,696 (GRCm39) |
P962Q |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slc38a9 |
A |
G |
13: 112,862,634 (GRCm39) |
I444M |
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,310,263 (GRCm39) |
T492A |
probably damaging |
Het |
| Synj1 |
A |
T |
16: 90,735,518 (GRCm39) |
S1478R |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,972,774 (GRCm39) |
N276I |
probably damaging |
Het |
| Trbv19 |
G |
A |
6: 41,155,692 (GRCm39) |
G21D |
probably damaging |
Het |
| Ube2o |
A |
T |
11: 116,430,185 (GRCm39) |
D1184E |
probably benign |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,977 (GRCm39) |
L182* |
probably null |
Het |
| Vmn2r15 |
A |
G |
5: 109,434,137 (GRCm39) |
*856R |
probably null |
Het |
| Vmn2r70 |
G |
A |
7: 85,208,087 (GRCm39) |
H797Y |
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,733,587 (GRCm39) |
A625T |
possibly 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 |
|
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 |
|
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'- GATGATCTGGCCACCGAAAG -3'
(R):5'- TGACTTACCAGGTGGAAACC -3'
Sequencing Primer
(F):5'- AAAGGCCTCCTGAGCAGCTTC -3'
(R):5'- CTTACCAGGTGGAAACCAGGGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation