Incidental Mutation 'R2250:Lyg2'
ID |
240815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lyg2
|
Ensembl Gene |
ENSMUSG00000061584 |
Gene Name |
lysozyme G-like 2 |
Synonyms |
LOC332427 |
MMRRC Submission |
040250-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R2250 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
37945004-37955574 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 37954816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 10
(L10F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078307]
|
AlphaFold |
Q3V1I0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078307
AA Change: L10F
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000077422 Gene: ENSMUSG00000061584 AA Change: L10F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
SCOP:d153l__
|
39 |
213 |
5e-45 |
SMART |
PDB:1LSP|A
|
40 |
213 |
2e-56 |
PDB |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
A |
G |
11: 76,342,765 (GRCm39) |
C532R |
probably damaging |
Het |
Edem2 |
A |
C |
2: 155,552,893 (GRCm39) |
|
probably null |
Het |
Hhatl |
A |
G |
9: 121,617,237 (GRCm39) |
V332A |
possibly damaging |
Het |
Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
Irf2bp1 |
G |
T |
7: 18,739,724 (GRCm39) |
A455S |
probably benign |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mindy4 |
G |
A |
6: 55,277,934 (GRCm39) |
V593I |
probably damaging |
Het |
Nectin3 |
A |
T |
16: 46,275,099 (GRCm39) |
D319E |
probably benign |
Het |
Or52e2 |
C |
A |
7: 102,804,157 (GRCm39) |
G266C |
probably damaging |
Het |
Or6b9 |
T |
A |
7: 106,555,580 (GRCm39) |
M188L |
probably benign |
Het |
Plcb4 |
G |
A |
2: 135,813,781 (GRCm39) |
|
probably null |
Het |
Prkd3 |
T |
C |
17: 79,275,507 (GRCm39) |
T446A |
probably benign |
Het |
Scn11a |
T |
A |
9: 119,587,668 (GRCm39) |
T1359S |
probably benign |
Het |
Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Spta1 |
A |
G |
1: 174,071,680 (GRCm39) |
E2220G |
probably damaging |
Het |
Strn4 |
A |
G |
7: 16,560,391 (GRCm39) |
Y181C |
probably damaging |
Het |
Vmn1r119 |
A |
T |
7: 20,746,184 (GRCm39) |
L66H |
probably damaging |
Het |
|
Other mutations in Lyg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02834:Lyg2
|
APN |
1 |
37,949,048 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03079:Lyg2
|
APN |
1 |
37,946,727 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03123:Lyg2
|
APN |
1 |
37,954,845 (GRCm39) |
utr 5 prime |
probably benign |
|
R0543:Lyg2
|
UTSW |
1 |
37,950,188 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2258:Lyg2
|
UTSW |
1 |
37,948,077 (GRCm39) |
missense |
probably benign |
0.00 |
R3884:Lyg2
|
UTSW |
1 |
37,949,150 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Lyg2
|
UTSW |
1 |
37,950,148 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5991:Lyg2
|
UTSW |
1 |
37,954,800 (GRCm39) |
critical splice donor site |
probably null |
|
R6328:Lyg2
|
UTSW |
1 |
37,950,194 (GRCm39) |
missense |
probably benign |
0.33 |
R7439:Lyg2
|
UTSW |
1 |
37,950,218 (GRCm39) |
missense |
possibly damaging |
0.46 |
R8172:Lyg2
|
UTSW |
1 |
37,946,748 (GRCm39) |
missense |
probably benign |
0.01 |
R8812:Lyg2
|
UTSW |
1 |
37,949,054 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lyg2
|
UTSW |
1 |
37,950,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACACACTCACACTGGTGCG -3'
(R):5'- CTGGGAGACAAACGTTATATTGG -3'
Sequencing Primer
(F):5'- CACATACATACACCTGTACACATATG -3'
(R):5'- GGGAGACAAACGTTATATTGGAAATG -3'
|
Posted On |
2014-10-15 |