Incidental Mutation 'R6213:Lypd8'
| ID |
503576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lypd8
|
| Ensembl Gene |
ENSMUSG00000013643 |
| Gene Name |
LY6/PLAUR domain containing 8 |
| Synonyms |
2210415F13Rik |
| MMRRC Submission |
044346-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58269869-58281365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58281160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 241
(T241A)
|
| 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: T241A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013787
Gene: ENSMUSG00000013643
AA Change: T241A
| 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: T241A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104454
Gene: ENSMUSG00000013643
AA Change: T241A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117893
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,762 (GRCm39) |
Y207H |
probably damaging |
Het |
| Adcy7 |
G |
A |
8: 89,040,765 (GRCm39) |
V335M |
probably damaging |
Het |
| Apol11b |
A |
C |
15: 77,522,200 (GRCm39) |
D32E |
possibly damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdkn1b |
T |
A |
6: 134,898,206 (GRCm39) |
D108E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,359,222 (GRCm39) |
D984G |
probably benign |
Het |
| Csde1 |
T |
C |
3: 102,947,830 (GRCm39) |
V128A |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,492,656 (GRCm39) |
S3162P |
probably damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,759,978 (GRCm39) |
T1394I |
probably damaging |
Het |
| Ddx6 |
T |
A |
9: 44,539,990 (GRCm39) |
L306Q |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 49,996,082 (GRCm39) |
S403T |
possibly damaging |
Het |
| F11 |
G |
T |
8: 45,694,537 (GRCm39) |
T608K |
probably damaging |
Het |
| Flrt3 |
C |
T |
2: 140,503,085 (GRCm39) |
R181H |
probably damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,771,864 (GRCm39) |
C260S |
probably damaging |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,141 (GRCm39) |
S84T |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,724,019 (GRCm39) |
D332G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,930,367 (GRCm39) |
Q102R |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,330,174 (GRCm39) |
D1597E |
probably benign |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Map1lc3a |
T |
C |
2: 155,118,935 (GRCm39) |
|
probably null |
Het |
| Mast1 |
G |
A |
8: 85,642,198 (GRCm39) |
T1052I |
probably damaging |
Het |
| Muc2 |
T |
C |
7: 141,305,151 (GRCm39) |
C152R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,903 (GRCm39) |
M2950L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,421,356 (GRCm39) |
D4282G |
possibly damaging |
Het |
| Myo16 |
G |
T |
8: 10,420,963 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,734,541 (GRCm39) |
F708I |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,353,549 (GRCm39) |
F558Y |
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,932 (GRCm39) |
W30R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,364,390 (GRCm39) |
L1338S |
probably damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,017,066 (GRCm39) |
T97A |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,132,823 (GRCm39) |
Y301* |
probably null |
Het |
| Nrcam |
C |
T |
12: 44,609,215 (GRCm39) |
P447S |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,485 (GRCm39) |
M1V |
probably null |
Het |
| Or1o4 |
T |
C |
17: 37,591,264 (GRCm39) |
S16G |
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,821 (GRCm39) |
N194S |
possibly damaging |
Het |
| Or52b4 |
T |
C |
7: 102,184,139 (GRCm39) |
Y62H |
probably damaging |
Het |
| Pacsin3 |
G |
T |
2: 91,090,779 (GRCm39) |
V29F |
probably damaging |
Het |
| Pdzrn3 |
A |
C |
6: 101,354,805 (GRCm39) |
D15E |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,504,752 (GRCm39) |
|
probably null |
Het |
| Pign |
A |
C |
1: 105,516,991 (GRCm39) |
V545G |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,593,994 (GRCm39) |
N1373S |
possibly damaging |
Het |
| Ptchd4 |
T |
A |
17: 42,688,251 (GRCm39) |
H264Q |
probably benign |
Het |
| Ptpn3 |
G |
T |
4: 57,265,012 (GRCm39) |
Q73K |
probably damaging |
Het |
| Ptrh1 |
G |
A |
2: 32,666,757 (GRCm39) |
V109I |
probably benign |
Het |
| Reg1 |
A |
T |
6: 78,404,386 (GRCm39) |
I87F |
possibly damaging |
Het |
| Rrp12 |
C |
A |
19: 41,857,217 (GRCm39) |
V1186L |
probably benign |
Het |
| Sall1 |
AGTGGTGGTGGTGGTGGTGGTGG |
AGTGGTGGTGGTGGTGGTGG |
8: 89,759,686 (GRCm39) |
|
probably benign |
Het |
| Slc23a3 |
A |
C |
1: 75,108,392 (GRCm39) |
F279V |
probably benign |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Suds3 |
A |
G |
5: 117,244,727 (GRCm39) |
L115P |
probably damaging |
Het |
| Tekt2 |
G |
A |
4: 126,216,989 (GRCm39) |
A260V |
probably damaging |
Het |
| Tgfb3 |
T |
A |
12: 86,104,621 (GRCm39) |
Y391F |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,209,950 (GRCm39) |
S866P |
probably benign |
Het |
| Tspan14 |
A |
G |
14: 40,635,372 (GRCm39) |
Y175H |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,971,332 (GRCm39) |
T568A |
probably benign |
Het |
| Vmn1r216 |
T |
G |
13: 23,283,339 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Zfp281 |
T |
C |
1: 136,553,250 (GRCm39) |
V76A |
probably benign |
Het |
| Zfp36l2 |
T |
C |
17: 84,493,980 (GRCm39) |
N219S |
probably damaging |
Het |
| Zfp626 |
T |
C |
7: 27,507,717 (GRCm39) |
M42T |
probably benign |
Het |
| Zscan21 |
C |
T |
5: 138,123,359 (GRCm39) |
P13S |
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 |
|
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 |
|
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'- CCTGGGAACACAACAGTTGG -3'
(R):5'- CAGATTGTCTAGACCTCAAGCAAC -3'
Sequencing Primer
(F):5'- CACAACAGTTGGAGAGTTTGTTTTC -3'
(R):5'- TTAATAAAGGAGATACTGTGGCTGC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation