Incidental Mutation 'R2159:Loxl4'
ID |
235086 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Loxl4
|
Ensembl Gene |
ENSMUSG00000025185 |
Gene Name |
lysyl oxidase-like 4 |
Synonyms |
4833426I20Rik |
MMRRC Submission |
040162-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2159 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
42582421-42601252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 42588446 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 570
(A570T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026190]
[ENSMUST00000164786]
[ENSMUST00000171432]
|
AlphaFold |
Q924C6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026190
AA Change: A570T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026190 Gene: ENSMUSG00000025185 AA Change: A570T
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: A571T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125803 Gene: ENSMUSG00000025185 AA Change: A571T
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: A570T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126686 Gene: ENSMUSG00000025185 AA Change: A570T
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
G |
A |
12: 81,607,241 (GRCm39) |
P174S |
probably benign |
Het |
Aida |
C |
T |
1: 183,103,234 (GRCm39) |
P185S |
probably benign |
Het |
Alg11 |
T |
G |
8: 22,555,861 (GRCm39) |
I374R |
probably benign |
Het |
Ano9 |
T |
C |
7: 140,688,030 (GRCm39) |
I229V |
probably benign |
Het |
Apob |
A |
T |
12: 8,060,081 (GRCm39) |
L2821F |
probably benign |
Het |
Atp10b |
C |
T |
11: 43,042,680 (GRCm39) |
T80I |
possibly damaging |
Het |
BC024139 |
T |
C |
15: 76,005,688 (GRCm39) |
H478R |
probably damaging |
Het |
Btbd1 |
A |
T |
7: 81,450,804 (GRCm39) |
D325E |
possibly damaging |
Het |
Camk2a |
G |
A |
18: 61,090,257 (GRCm39) |
C199Y |
probably damaging |
Het |
Casp3 |
A |
G |
8: 47,087,323 (GRCm39) |
D90G |
probably damaging |
Het |
Ccnt2 |
A |
G |
1: 127,702,891 (GRCm39) |
H71R |
probably benign |
Het |
Cdk2ap1 |
G |
A |
5: 124,486,667 (GRCm39) |
R65* |
probably null |
Het |
Cebpb |
G |
T |
2: 167,531,173 (GRCm39) |
A78S |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,682,606 (GRCm39) |
F1613L |
unknown |
Het |
Cpd |
T |
C |
11: 76,688,467 (GRCm39) |
D935G |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cwc27 |
A |
G |
13: 104,940,837 (GRCm39) |
I174T |
probably damaging |
Het |
Cyp21a1 |
C |
A |
17: 35,021,378 (GRCm39) |
R331L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,252,691 (GRCm39) |
T795A |
probably benign |
Het |
Eif2ak2 |
A |
G |
17: 79,181,447 (GRCm39) |
V100A |
possibly damaging |
Het |
Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
Gp2 |
T |
C |
7: 119,051,507 (GRCm39) |
D236G |
probably benign |
Het |
Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
Gzmd |
T |
A |
14: 56,368,153 (GRCm39) |
H102L |
probably damaging |
Het |
Klk1b1 |
A |
T |
7: 43,619,857 (GRCm39) |
I139F |
probably damaging |
Het |
Lcmt2 |
G |
A |
2: 120,969,766 (GRCm39) |
P439L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,750,124 (GRCm39) |
H674Q |
probably damaging |
Het |
Mybpc3 |
A |
T |
2: 90,955,715 (GRCm39) |
K583M |
probably damaging |
Het |
Ncoa6 |
G |
T |
2: 155,249,633 (GRCm39) |
P1224T |
probably damaging |
Het |
Nostrin |
A |
G |
2: 69,011,266 (GRCm39) |
|
probably null |
Het |
Or13e8 |
T |
C |
4: 43,697,110 (GRCm39) |
H21R |
probably benign |
Het |
Or4c3 |
A |
T |
2: 89,851,882 (GRCm39) |
V176E |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,133,880 (GRCm39) |
D58E |
possibly damaging |
Het |
Parm1 |
A |
G |
5: 91,760,923 (GRCm39) |
Y265C |
probably damaging |
Het |
Phf10 |
C |
T |
17: 15,172,926 (GRCm39) |
E304K |
probably damaging |
Het |
Prmt5 |
T |
C |
14: 54,752,795 (GRCm39) |
T139A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Ptp4a3 |
A |
G |
15: 73,623,865 (GRCm39) |
T32A |
probably benign |
Het |
Pwwp2b |
A |
T |
7: 138,834,844 (GRCm39) |
D95V |
possibly damaging |
Het |
Rad51ap2 |
T |
C |
12: 11,507,752 (GRCm39) |
L558S |
possibly damaging |
Het |
Rapgef4 |
A |
G |
2: 72,005,225 (GRCm39) |
D80G |
probably damaging |
Het |
Sec24a |
T |
G |
11: 51,603,177 (GRCm39) |
H757P |
probably damaging |
Het |
Sema4d |
T |
C |
13: 51,874,571 (GRCm39) |
N129D |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,531,251 (GRCm39) |
T323A |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,384,661 (GRCm39) |
R504H |
possibly damaging |
Het |
Sftpb |
T |
C |
6: 72,286,770 (GRCm39) |
C226R |
probably damaging |
Het |
Sp8 |
T |
C |
12: 118,812,441 (GRCm39) |
S99P |
possibly damaging |
Het |
Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,267,156 (GRCm39) |
Y365H |
probably damaging |
Het |
Stk36 |
A |
G |
1: 74,673,896 (GRCm39) |
Q1263R |
probably benign |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Troap |
G |
T |
15: 98,975,467 (GRCm39) |
A184S |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,729,671 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
C |
A |
17: 20,689,363 (GRCm39) |
A531S |
probably benign |
Het |
Vmn2r12 |
T |
A |
5: 109,239,340 (GRCm39) |
I408F |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,950,169 (GRCm39) |
E226V |
probably benign |
Het |
Vmo1 |
A |
G |
11: 70,404,608 (GRCm39) |
F131S |
probably benign |
Het |
Vwf |
T |
C |
6: 125,603,304 (GRCm39) |
F885L |
probably damaging |
Het |
Wdpcp |
A |
T |
11: 21,807,476 (GRCm39) |
M618L |
probably benign |
Het |
Wdr90 |
T |
C |
17: 26,070,715 (GRCm39) |
E1072G |
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 |
|
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 |
|
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'- GTCAGACTTAACCAGGATTTTGC -3'
(R):5'- GCCGTGCTTATGCTGGATAAC -3'
Sequencing Primer
(F):5'- GAGGAAACCAAACTGTTTAGTCC -3'
(R):5'- GTGCTTATGCTGGATAACAGGCAC -3'
|
Posted On |
2014-10-01 |