Incidental Mutation 'R6528:Lypd8'
| ID |
522099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lypd8
|
| Ensembl Gene |
ENSMUSG00000013643 |
| Gene Name |
LY6/PLAUR domain containing 8 |
| Synonyms |
2210415F13Rik |
| MMRRC Submission |
044654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6528 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58269869-58281365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58275439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 58
(G58E)
|
| 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: G58E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000013787
Gene: ENSMUSG00000013643
AA Change: G58E
| 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: G58E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104454
Gene: ENSMUSG00000013643
AA Change: G58E
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
T |
8: 56,325,596 (GRCm39) |
R286H |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,808,351 (GRCm39) |
N1176K |
probably benign |
Het |
| Cacfd1 |
T |
G |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
| Ccnj |
C |
A |
19: 40,820,529 (GRCm39) |
|
probably null |
Het |
| Chad |
A |
G |
11: 94,456,450 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,133 (GRCm39) |
L191P |
probably damaging |
Het |
| Cmtm1 |
T |
C |
8: 105,035,927 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,377,241 (GRCm39) |
A449T |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,790,896 (GRCm39) |
E1334G |
probably benign |
Het |
| Endou |
C |
T |
15: 97,617,510 (GRCm39) |
E147K |
probably damaging |
Het |
| Fbxo21 |
C |
A |
5: 118,138,421 (GRCm39) |
H449N |
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,250,507 (GRCm39) |
I363T |
probably damaging |
Het |
| Gm12887 |
C |
A |
4: 121,472,834 (GRCm39) |
G103C |
probably damaging |
Het |
| Gm14410 |
T |
A |
2: 176,885,301 (GRCm39) |
H321L |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Irgm2 |
C |
T |
11: 58,110,878 (GRCm39) |
P202S |
probably benign |
Het |
| Khsrp |
G |
A |
17: 57,330,543 (GRCm39) |
T551I |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,551,000 (GRCm39) |
I720N |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,713,780 (GRCm39) |
L1952F |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,189,780 (GRCm39) |
P1043L |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,380,317 (GRCm39) |
T3832A |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,479,819 (GRCm39) |
R654C |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,638 (GRCm39) |
L14P |
probably damaging |
Het |
| Or12j3 |
G |
T |
7: 139,953,354 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,964 (GRCm39) |
M138V |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,809 (GRCm39) |
D121G |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,556 (GRCm39) |
D159G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,058,630 (GRCm39) |
E3759G |
probably damaging |
Het |
| Plekho1 |
C |
T |
3: 95,896,633 (GRCm39) |
D236N |
probably damaging |
Het |
| Pnma1 |
T |
A |
12: 84,194,197 (GRCm39) |
I169F |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,905,480 (GRCm39) |
H1605L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,821,403 (GRCm39) |
M252L |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,935,381 (GRCm39) |
V120A |
probably damaging |
Het |
| Prickle4 |
T |
A |
17: 48,000,258 (GRCm39) |
R246* |
probably null |
Het |
| Rad50 |
G |
A |
11: 53,543,109 (GRCm39) |
T1235I |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,506,588 (GRCm39) |
N244S |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,664 (GRCm39) |
S306P |
possibly damaging |
Het |
| Shox2 |
C |
A |
3: 66,888,618 (GRCm39) |
R91L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,176 (GRCm39) |
E394G |
probably damaging |
Het |
| Tcl1b5 |
A |
G |
12: 105,145,258 (GRCm39) |
N74S |
probably benign |
Het |
| Tgif1 |
G |
A |
17: 71,153,555 (GRCm39) |
|
probably benign |
Het |
| Tmem128 |
T |
A |
5: 38,423,843 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,805,956 (GRCm39) |
S511P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,685,823 (GRCm39) |
I114T |
probably benign |
Het |
| Ttll8 |
G |
T |
15: 88,798,441 (GRCm39) |
Q765K |
probably benign |
Het |
| Usp17ld |
A |
T |
7: 102,899,962 (GRCm39) |
D323E |
probably damaging |
Het |
| Vmn1r232 |
G |
A |
17: 21,134,309 (GRCm39) |
T97I |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,493,684 (GRCm39) |
R87S |
probably benign |
Het |
| Vps26b |
C |
G |
9: 26,921,762 (GRCm39) |
E254D |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,372,875 (GRCm39) |
Y113* |
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xcr1 |
A |
T |
9: 123,685,048 (GRCm39) |
I238N |
probably damaging |
Het |
| Zar1l |
T |
A |
5: 150,430,595 (GRCm39) |
E272V |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,816,862 (GRCm39) |
Y146H |
probably damaging |
Het |
| Zfp54 |
G |
T |
17: 21,653,736 (GRCm39) |
E77* |
probably null |
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 |
|
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 |
|
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'- TCTGATGGGGAACAGTTTTCTC -3'
(R):5'- CCTGTACAAACCAGAGTGGG -3'
Sequencing Primer
(F):5'- GTTAAAGACGTGCCATTGCC -3'
(R):5'- GTGGCATTGCAGGACTCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation