Incidental Mutation 'R4465:Lao1'
| ID |
330297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lao1
|
| Ensembl Gene |
ENSMUSG00000024903 |
| Gene Name |
L-amino acid oxidase 1 |
| Synonyms |
|
| MMRRC Submission |
041580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R4465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
118819164-118826107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118822504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 141
(S141R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058651]
|
| AlphaFold |
B1ARV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058651
AA Change: S141R
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062834
Gene: ENSMUSG00000024903
AA Change: S141R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pyr_redox_2
|
39 |
133 |
1.9e-8 |
PFAM |
|
Pfam:HI0933_like
|
58 |
98 |
2.2e-7 |
PFAM |
|
Pfam:FAD_binding_2
|
59 |
99 |
2.2e-7 |
PFAM |
|
Pfam:Pyr_redox
|
59 |
106 |
5.4e-7 |
PFAM |
|
Pfam:NAD_binding_8
|
62 |
129 |
8.1e-15 |
PFAM |
|
Pfam:Amino_oxidase
|
67 |
509 |
3.1e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142457
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele show alterations in the free amino acid composition and antibacterial activity of milk and increased susceptibility to intramammary bacterial infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
| Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
| Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
| Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
| Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
| Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
| Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
Het |
|
| Other mutations in Lao1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02105:Lao1
|
APN |
4 |
118,825,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02252:Lao1
|
APN |
4 |
118,824,613 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0139:Lao1
|
UTSW |
4 |
118,821,399 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0541:Lao1
|
UTSW |
4 |
118,820,999 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0635:Lao1
|
UTSW |
4 |
118,825,493 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1164:Lao1
|
UTSW |
4 |
118,822,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4767:Lao1
|
UTSW |
4 |
118,825,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4950:Lao1
|
UTSW |
4 |
118,822,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Lao1
|
UTSW |
4 |
118,824,673 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5488:Lao1
|
UTSW |
4 |
118,824,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Lao1
|
UTSW |
4 |
118,822,433 (GRCm39) |
splice site |
probably null |
|
|
R6176:Lao1
|
UTSW |
4 |
118,819,197 (GRCm39) |
start codon destroyed |
probably null |
0.40 |
|
R6189:Lao1
|
UTSW |
4 |
118,825,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6857:Lao1
|
UTSW |
4 |
118,821,023 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6859:Lao1
|
UTSW |
4 |
118,820,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7074:Lao1
|
UTSW |
4 |
118,825,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7878:Lao1
|
UTSW |
4 |
118,824,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8021:Lao1
|
UTSW |
4 |
118,825,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8787:Lao1
|
UTSW |
4 |
118,825,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0021:Lao1
|
UTSW |
4 |
118,825,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Lao1
|
UTSW |
4 |
118,825,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lao1
|
UTSW |
4 |
118,825,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCACAACATTTAATGAGATTGC -3'
(R):5'- TGTAACCTTAGGCACCACCC -3'
Sequencing Primer
(F):5'- GCAATTGAACAAGCAATCAGTTTGAG -3'
(R):5'- GTAACCTTAGGCACCACCCATTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation