Incidental Mutation 'R0711:Lypd8'
ID |
62749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lypd8
|
Ensembl Gene |
ENSMUSG00000013643 |
Gene Name |
LY6/PLAUR domain containing 8 |
Synonyms |
2210415F13Rik |
MMRRC Submission |
038894-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R0711 (G1)
|
Quality Score |
91 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58269869-58281365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 58277583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 122
(M122L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013787]
[ENSMUST00000108826]
|
AlphaFold |
Q9D7S0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000013787
AA Change: M122L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000013787 Gene: ENSMUSG00000013643 AA Change: M122L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:UPAR_LY6
|
23 |
105 |
3.4e-5 |
PFAM |
Pfam:UPAR_LY6
|
121 |
197 |
2.3e-5 |
PFAM |
low complexity region
|
199 |
212 |
N/A |
INTRINSIC |
low complexity region
|
248 |
254 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108826
AA Change: M122L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000104454 Gene: ENSMUSG00000013643 AA Change: M122L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:UPAR_LY6
|
23 |
105 |
1.9e-4 |
PFAM |
Pfam:UPAR_LY6
|
121 |
197 |
4.9e-5 |
PFAM |
low complexity region
|
199 |
212 |
N/A |
INTRINSIC |
low complexity region
|
248 |
254 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (91/91) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the Ly6/PLAUR family of cysteine-rich proteins that plays an important role in the protection of colonic epithelium from flagellated microbiota. The encoded protein undergoes proteolytic processing to generate a mature, glycosylphosphatidylinositol-anchored protein that is localized to the apical surface of the colonic epithelial cells. Mice lacking the encoded protein are sensitive to chemically induced intestinal inflammation. [provided by RefSeq, Aug 2016] PHENOTYPE: No notable phenotype was detected in a high throughput screen of homozygous mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,986 (GRCm39) |
D1058E |
probably damaging |
Het |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
Afdn |
C |
T |
17: 14,072,698 (GRCm39) |
P874S |
probably damaging |
Het |
Ankrd6 |
G |
A |
4: 32,815,326 (GRCm39) |
A391V |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,657,508 (GRCm39) |
M1839I |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,726,226 (GRCm39) |
|
probably null |
Het |
Chid1 |
C |
T |
7: 141,076,590 (GRCm39) |
V325I |
probably benign |
Het |
Cnn3 |
T |
A |
3: 121,243,633 (GRCm39) |
D31E |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,559,317 (GRCm39) |
P1857L |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,001,618 (GRCm39) |
R430W |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,169,059 (GRCm39) |
|
probably benign |
Het |
Dcaf13 |
A |
G |
15: 39,001,484 (GRCm39) |
Y264C |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,064,585 (GRCm39) |
I2666V |
probably damaging |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,501,692 (GRCm39) |
F1833I |
probably damaging |
Het |
Efhd2 |
C |
T |
4: 141,587,183 (GRCm39) |
A200T |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Gkn2 |
T |
C |
6: 87,350,401 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
A |
T |
16: 36,739,152 (GRCm39) |
Q2497L |
probably damaging |
Het |
Gzme |
A |
T |
14: 56,355,196 (GRCm39) |
M245K |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,054,585 (GRCm39) |
|
probably benign |
Het |
Icosl |
T |
A |
10: 77,909,775 (GRCm39) |
V240D |
probably damaging |
Het |
Igsf3 |
T |
C |
3: 101,334,709 (GRCm39) |
M262T |
probably benign |
Het |
Ing3 |
G |
T |
6: 21,971,236 (GRCm39) |
E336* |
probably null |
Het |
Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Mdfi |
A |
T |
17: 48,143,855 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,192,179 (GRCm39) |
|
probably benign |
Het |
Msh6 |
C |
T |
17: 88,294,112 (GRCm39) |
R956C |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,664 (GRCm39) |
E670G |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Or4s2b |
A |
G |
2: 88,509,018 (GRCm39) |
D266G |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,024 (GRCm39) |
A146T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,447 (GRCm39) |
N54K |
probably benign |
Het |
Pde8b |
C |
G |
13: 95,244,325 (GRCm39) |
S143T |
possibly damaging |
Het |
Pias4 |
G |
T |
10: 80,993,364 (GRCm39) |
|
probably benign |
Het |
Prkca |
A |
G |
11: 107,872,480 (GRCm39) |
Y427H |
probably benign |
Het |
Psg25 |
G |
A |
7: 18,263,485 (GRCm39) |
Q113* |
probably null |
Het |
Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,938,756 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Serpinb9f |
T |
A |
13: 33,511,904 (GRCm39) |
W136R |
probably damaging |
Het |
Skic3 |
C |
T |
13: 76,331,010 (GRCm39) |
P1480L |
probably damaging |
Het |
Skint10 |
C |
A |
4: 112,573,102 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
T |
C |
6: 6,117,128 (GRCm39) |
T196A |
probably damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,230 (GRCm39) |
H33R |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,251 (GRCm39) |
Y819N |
probably damaging |
Het |
Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
Tmco3 |
T |
A |
8: 13,342,039 (GRCm39) |
N104K |
probably damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,249 (GRCm39) |
T611A |
probably damaging |
Het |
Tmem202 |
T |
G |
9: 59,432,655 (GRCm39) |
Y24S |
probably damaging |
Het |
Tpp1 |
A |
G |
7: 105,398,626 (GRCm39) |
L230P |
probably damaging |
Het |
Trim56 |
C |
T |
5: 137,141,846 (GRCm39) |
E557K |
probably benign |
Het |
Trrap |
C |
T |
5: 144,790,309 (GRCm39) |
L3590F |
probably damaging |
Het |
Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
Vcp |
G |
C |
4: 42,986,201 (GRCm39) |
A297G |
probably benign |
Het |
Vwf |
T |
A |
6: 125,603,234 (GRCm39) |
H861Q |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,599,751 (GRCm39) |
I536T |
probably benign |
Het |
Zfp850 |
T |
C |
7: 27,689,698 (GRCm39) |
N170S |
probably benign |
Het |
Zfp87 |
G |
A |
13: 74,524,544 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lypd8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01895:Lypd8
|
APN |
11 |
58,281,046 (GRCm39) |
missense |
possibly damaging |
0.53 |
confusion
|
UTSW |
11 |
58,277,583 (GRCm39) |
missense |
probably benign |
0.00 |
quandary
|
UTSW |
11 |
58,275,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Lypd8
|
UTSW |
11 |
58,277,583 (GRCm39) |
missense |
probably benign |
0.00 |
R0628:Lypd8
|
UTSW |
11 |
58,275,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R2294:Lypd8
|
UTSW |
11 |
58,277,680 (GRCm39) |
missense |
probably damaging |
0.99 |
R3033:Lypd8
|
UTSW |
11 |
58,275,453 (GRCm39) |
missense |
probably damaging |
0.99 |
R4562:Lypd8
|
UTSW |
11 |
58,273,215 (GRCm39) |
critical splice donor site |
probably null |
|
R4610:Lypd8
|
UTSW |
11 |
58,277,675 (GRCm39) |
missense |
probably benign |
0.00 |
R5224:Lypd8
|
UTSW |
11 |
58,277,634 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5468:Lypd8
|
UTSW |
11 |
58,277,586 (GRCm39) |
missense |
probably damaging |
0.96 |
R6213:Lypd8
|
UTSW |
11 |
58,281,160 (GRCm39) |
missense |
probably benign |
|
R6228:Lypd8
|
UTSW |
11 |
58,277,629 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6528:Lypd8
|
UTSW |
11 |
58,275,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R6947:Lypd8
|
UTSW |
11 |
58,273,592 (GRCm39) |
missense |
probably benign |
0.00 |
R7811:Lypd8
|
UTSW |
11 |
58,281,064 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9006:Lypd8
|
UTSW |
11 |
58,277,586 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9209:Lypd8
|
UTSW |
11 |
58,273,640 (GRCm39) |
missense |
possibly damaging |
0.93 |
RF018:Lypd8
|
UTSW |
11 |
58,281,058 (GRCm39) |
small insertion |
probably benign |
|
RF028:Lypd8
|
UTSW |
11 |
58,281,065 (GRCm39) |
small insertion |
probably benign |
|
RF039:Lypd8
|
UTSW |
11 |
58,281,057 (GRCm39) |
small insertion |
probably benign |
|
RF042:Lypd8
|
UTSW |
11 |
58,281,069 (GRCm39) |
small insertion |
probably benign |
|
RF043:Lypd8
|
UTSW |
11 |
58,281,069 (GRCm39) |
small insertion |
probably benign |
|
RF054:Lypd8
|
UTSW |
11 |
58,281,077 (GRCm39) |
small insertion |
probably benign |
|
RF057:Lypd8
|
UTSW |
11 |
58,281,065 (GRCm39) |
small insertion |
probably benign |
|
Z1088:Lypd8
|
UTSW |
11 |
58,277,556 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1186:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1186:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Lypd8
|
UTSW |
11 |
58,281,064 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Lypd8
|
UTSW |
11 |
58,281,070 (GRCm39) |
small insertion |
probably benign |
|
Z1186:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1186:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1187:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1187:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1187:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1187:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1188:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1188:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1188:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1188:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1189:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1189:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1189:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1189:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1190:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1190:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1190:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1191:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
Z1191:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1191:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Lypd8
|
UTSW |
11 |
58,273,601 (GRCm39) |
missense |
probably benign |
|
Z1192:Lypd8
|
UTSW |
11 |
58,281,069 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Lypd8
|
UTSW |
11 |
58,281,068 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Lypd8
|
UTSW |
11 |
58,281,061 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Lypd8
|
UTSW |
11 |
58,281,059 (GRCm39) |
small insertion |
probably benign |
|
Z1192:Lypd8
|
UTSW |
11 |
58,275,489 (GRCm39) |
missense |
probably benign |
0.02 |
Z1192:Lypd8
|
UTSW |
11 |
58,275,475 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGCTGGCTAAGGCTTCAAAC -3'
(R):5'- GCAGCACAGCAACTTGAATCTCG -3'
Sequencing Primer
(F):5'- GCCTACAGGGGTGAATCTCAG -3'
(R):5'- TGAATCTCGTTTCAATTTGAGCC -3'
|
Posted On |
2013-07-30 |