Incidental Mutation 'R5840:Loxl4'
| ID |
450410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Loxl4
|
| Ensembl Gene |
ENSMUSG00000025185 |
| Gene Name |
lysyl oxidase-like 4 |
| Synonyms |
4833426I20Rik |
| MMRRC Submission |
044060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5840 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 42587154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 648
(T648K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000171432]
|
| AlphaFold |
Q924C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026190
AA Change: T647K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026190
Gene: ENSMUSG00000025185
AA Change: T647K
| 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 damaging
Transcript: ENSMUST00000164786
AA Change: T648K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125803
Gene: ENSMUSG00000025185
AA Change: T648K
| 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 damaging
Transcript: ENSMUST00000171432
AA Change: T647K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126686
Gene: ENSMUSG00000025185
AA Change: T647K
| 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 |
0.6024 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 96.5%
- 20x: 88.1%
|
| Validation Efficiency |
99% (75/76) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,323,371 (GRCm39) |
R113Q |
probably benign |
Het |
| Aip |
G |
A |
19: 4,166,010 (GRCm39) |
P147L |
possibly damaging |
Het |
| Anapc1 |
A |
C |
2: 128,448,957 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
C |
T |
9: 9,046,518 (GRCm39) |
V240I |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,176,528 (GRCm39) |
E684G |
probably damaging |
Het |
| BC005624 |
G |
A |
2: 30,871,869 (GRCm39) |
R2W |
probably benign |
Het |
| Cd177 |
T |
G |
7: 24,457,495 (GRCm39) |
Q182P |
probably damaging |
Het |
| Cdca5 |
G |
A |
19: 6,140,399 (GRCm39) |
E187K |
possibly damaging |
Het |
| Chmp1a |
T |
C |
8: 123,934,839 (GRCm39) |
Q39R |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,617,511 (GRCm39) |
I1079V |
probably damaging |
Het |
| Dip2c |
A |
T |
13: 9,556,712 (GRCm39) |
E85D |
possibly damaging |
Het |
| Elmo2 |
A |
T |
2: 165,137,472 (GRCm39) |
S497R |
possibly damaging |
Het |
| Ephb6 |
C |
T |
6: 41,592,507 (GRCm39) |
A339V |
possibly damaging |
Het |
| Foxred1 |
T |
C |
9: 35,121,435 (GRCm39) |
K38E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
| Fto |
A |
G |
8: 92,393,068 (GRCm39) |
|
probably benign |
Het |
| Gm17430 |
T |
A |
18: 9,726,528 (GRCm39) |
Q48L |
probably damaging |
Het |
| Gng2 |
A |
G |
14: 19,925,882 (GRCm39) |
I70T |
probably damaging |
Het |
| Gtf2a2 |
A |
G |
9: 69,922,575 (GRCm39) |
|
probably benign |
Het |
| Invs |
A |
G |
4: 48,396,284 (GRCm39) |
D263G |
probably damaging |
Het |
| Itga2b |
C |
T |
11: 102,352,157 (GRCm39) |
V475M |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,809,374 (GRCm39) |
|
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,440 (GRCm39) |
F449L |
possibly damaging |
Het |
| Lamb1 |
T |
A |
12: 31,316,755 (GRCm39) |
C83S |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,962 (GRCm39) |
F214L |
possibly damaging |
Het |
| N4bp2 |
T |
G |
5: 65,965,437 (GRCm39) |
L1162R |
probably damaging |
Het |
| Naa40 |
A |
T |
19: 7,207,373 (GRCm39) |
I117N |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,006,054 (GRCm39) |
S1492P |
probably benign |
Het |
| Nf2 |
T |
A |
11: 4,766,146 (GRCm39) |
D128V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,010,001 (GRCm39) |
S401P |
probably benign |
Het |
| Nt5c1b |
T |
C |
12: 10,427,171 (GRCm39) |
V323A |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,463 (GRCm39) |
V295I |
probably benign |
Het |
| Or52s19 |
T |
A |
7: 103,007,576 (GRCm39) |
H275L |
probably damaging |
Het |
| Or5b118 |
G |
A |
19: 13,449,242 (GRCm39) |
V303I |
probably benign |
Het |
| Pcdhb14 |
T |
C |
18: 37,581,803 (GRCm39) |
V303A |
probably benign |
Het |
| Pde8a |
C |
A |
7: 80,863,713 (GRCm39) |
H17Q |
probably benign |
Het |
| Pfkl |
C |
T |
10: 77,824,558 (GRCm39) |
V716I |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,990,732 (GRCm39) |
S495L |
possibly damaging |
Het |
| Psg18 |
A |
G |
7: 18,080,527 (GRCm39) |
|
probably benign |
Het |
| Rcc2 |
T |
G |
4: 140,439,449 (GRCm39) |
N175K |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,059,032 (GRCm39) |
T276I |
probably benign |
Het |
| Rnase9 |
A |
T |
14: 51,276,445 (GRCm39) |
Y178N |
probably benign |
Het |
| Sema4b |
T |
C |
7: 79,868,697 (GRCm39) |
C297R |
probably damaging |
Het |
| Slc35d2 |
T |
C |
13: 64,266,227 (GRCm39) |
|
probably null |
Het |
| Sptlc3 |
A |
T |
2: 139,389,126 (GRCm39) |
N169Y |
probably damaging |
Het |
| Srsf9 |
T |
G |
5: 115,469,524 (GRCm39) |
M29R |
probably benign |
Het |
| Stip1 |
C |
A |
19: 6,999,436 (GRCm39) |
D449Y |
possibly damaging |
Het |
| Syne2 |
T |
A |
12: 75,927,065 (GRCm39) |
|
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,916,141 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
A |
T |
17: 14,901,692 (GRCm39) |
|
probably null |
Het |
| Trak2 |
T |
C |
1: 58,958,432 (GRCm39) |
E283G |
probably damaging |
Het |
| Trbv21 |
A |
G |
6: 41,179,792 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,664,531 (GRCm39) |
Y949* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,778,161 (GRCm39) |
D221G |
possibly damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,187,262 (GRCm39) |
V85D |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,600 (GRCm39) |
W162R |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,484,314 (GRCm39) |
|
probably benign |
Het |
| Zc3h8 |
A |
C |
2: 128,771,824 (GRCm39) |
D276E |
probably benign |
Het |
| Zfp369 |
C |
T |
13: 65,445,092 (GRCm39) |
T745I |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,978 (GRCm39) |
K654R |
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 |
|
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 |
|
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'- CCTTTAAGGTGATACAAACTAGTGGG -3'
(R):5'- AATGATGGGCCTCACTCAGC -3'
Sequencing Primer
(F):5'- TTGAGAGGAAATAAGGACTTTCCAC -3'
(R):5'- AGCCTCCCCTGCTACCG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation