Incidental Mutation 'R0628:Lypd8'
ID |
57717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lypd8
|
Ensembl Gene |
ENSMUSG00000013643 |
Gene Name |
LY6/PLAUR domain containing 8 |
Synonyms |
2210415F13Rik |
MMRRC Submission |
038817-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R0628 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
58269869-58281365 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58275499 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 78
(T78M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013787]
[ENSMUST00000108826]
|
AlphaFold |
Q9D7S0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000013787
AA Change: T78M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000013787 Gene: ENSMUSG00000013643 AA Change: T78M
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 damaging
Transcript: ENSMUST00000108826
AA Change: T78M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104454 Gene: ENSMUSG00000013643 AA Change: T78M
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
Validation Efficiency |
98% (58/59) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
A |
C |
18: 65,440,367 (GRCm39) |
V809G |
possibly damaging |
Het |
Bank1 |
T |
A |
3: 135,772,151 (GRCm39) |
D493V |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,604,273 (GRCm39) |
|
probably benign |
Het |
Ccdc17 |
T |
A |
4: 116,455,745 (GRCm39) |
L292H |
probably damaging |
Het |
Ccdc7b |
A |
G |
8: 129,837,498 (GRCm39) |
|
probably benign |
Het |
Cd34 |
C |
A |
1: 194,641,525 (GRCm39) |
T317K |
probably damaging |
Het |
Col6a5 |
C |
G |
9: 105,789,649 (GRCm39) |
|
probably null |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Copa |
T |
C |
1: 171,918,592 (GRCm39) |
|
probably benign |
Het |
Coq7 |
T |
C |
7: 118,128,867 (GRCm39) |
D56G |
probably damaging |
Het |
Dlg4 |
C |
T |
11: 69,922,610 (GRCm39) |
T201I |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,536,264 (GRCm39) |
D2593V |
probably benign |
Het |
Ect2l |
T |
A |
10: 18,018,788 (GRCm39) |
E536V |
probably damaging |
Het |
Emilin3 |
A |
G |
2: 160,752,799 (GRCm39) |
|
probably benign |
Het |
Eml2 |
T |
C |
7: 18,935,479 (GRCm39) |
|
probably benign |
Het |
Fam135b |
C |
T |
15: 71,320,505 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
T |
C |
14: 70,825,161 (GRCm39) |
T392A |
possibly damaging |
Het |
Gart |
C |
T |
16: 91,430,790 (GRCm39) |
R424H |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,842,049 (GRCm39) |
L80P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,358,163 (GRCm39) |
K2415E |
probably benign |
Het |
Ica1 |
C |
T |
6: 8,644,256 (GRCm39) |
|
probably benign |
Het |
Idi2l |
T |
A |
13: 8,990,958 (GRCm39) |
|
probably benign |
Het |
Iyd |
A |
T |
10: 3,497,127 (GRCm39) |
M161L |
probably damaging |
Het |
Kdm5a |
T |
C |
6: 120,392,200 (GRCm39) |
L974S |
probably damaging |
Het |
Kif1a |
T |
C |
1: 92,947,605 (GRCm39) |
D1619G |
probably damaging |
Het |
Marchf10 |
T |
A |
11: 105,280,986 (GRCm39) |
H433L |
probably benign |
Het |
Mbp |
A |
G |
18: 82,572,742 (GRCm39) |
Y13C |
probably damaging |
Het |
Mertk |
A |
T |
2: 128,580,233 (GRCm39) |
N229I |
probably damaging |
Het |
Msrb2 |
T |
A |
2: 19,398,091 (GRCm39) |
D116E |
probably damaging |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Otoa |
G |
A |
7: 120,744,873 (GRCm39) |
|
probably benign |
Het |
Pclo |
A |
G |
5: 14,719,552 (GRCm39) |
T1230A |
unknown |
Het |
Polrmt |
T |
C |
10: 79,574,979 (GRCm39) |
T851A |
possibly damaging |
Het |
Prpf6 |
C |
T |
2: 181,277,841 (GRCm39) |
P401L |
probably damaging |
Het |
Rasgrp4 |
A |
G |
7: 28,839,635 (GRCm39) |
|
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,272,064 (GRCm39) |
|
probably benign |
Het |
Reps1 |
A |
G |
10: 17,996,841 (GRCm39) |
T588A |
probably damaging |
Het |
Rtel1 |
A |
C |
2: 180,993,674 (GRCm39) |
S782R |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,378,060 (GRCm39) |
|
probably benign |
Het |
Skic3 |
G |
C |
13: 76,298,848 (GRCm39) |
V1185L |
possibly damaging |
Het |
Skint5 |
A |
T |
4: 113,588,266 (GRCm39) |
L728* |
probably null |
Het |
Slc9b2 |
T |
A |
3: 135,029,536 (GRCm39) |
|
probably benign |
Het |
Snapc3 |
A |
T |
4: 83,368,397 (GRCm39) |
H298L |
probably benign |
Het |
Tex9 |
A |
T |
9: 72,399,233 (GRCm39) |
M1K |
probably null |
Het |
Trappc13 |
C |
T |
13: 104,291,424 (GRCm39) |
|
probably benign |
Het |
Usp3 |
C |
T |
9: 66,425,726 (GRCm39) |
R467H |
probably benign |
Het |
Vmn2r11 |
T |
A |
5: 109,195,597 (GRCm39) |
L576F |
possibly damaging |
Het |
Wnk4 |
T |
C |
11: 101,165,849 (GRCm39) |
F792S |
probably benign |
Het |
Zfp1007 |
T |
C |
5: 109,826,442 (GRCm39) |
|
probably null |
Het |
Zfp280d |
T |
C |
9: 72,269,230 (GRCm39) |
V764A |
probably benign |
Het |
Zfp69 |
G |
A |
4: 120,806,622 (GRCm39) |
Q4* |
probably null |
Het |
Zfp692 |
T |
G |
11: 58,200,449 (GRCm39) |
L206R |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
Zic4 |
T |
A |
9: 91,266,170 (GRCm39) |
Y264* |
probably null |
Het |
Zic4 |
T |
A |
9: 91,266,172 (GRCm39) |
M272K |
probably benign |
Het |
Zscan4b |
A |
T |
7: 10,635,390 (GRCm39) |
N284K |
probably damaging |
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 |
R0711:Lypd8
|
UTSW |
11 |
58,277,583 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TCTGTCCCTGTCGGAAGCATTGTC -3'
(R):5'- CCCTGTCTTCACCGAAGAGAAAGC -3'
Sequencing Primer
(F):5'- CGGAAGCATTGTCTTCCCAG -3'
(R):5'- AACGTTATCCAACTGGGTGC -3'
|
Posted On |
2013-07-11 |