Incidental Mutation 'IGL01470:Lypd6'
| ID |
88247 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lypd6
|
| Ensembl Gene |
ENSMUSG00000050447 |
| Gene Name |
LY6/PLAUR domain containing 6 |
| Synonyms |
E130115E03Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.632)
|
| Stock # |
IGL01470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
49956441-50083581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50078795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 97
(V97A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053208]
[ENSMUST00000112712]
[ENSMUST00000128451]
[ENSMUST00000169232]
|
| AlphaFold |
Q8BPP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053208
AA Change: V97A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000061578
Gene: ENSMUSG00000050447
AA Change: V97A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LU
|
47 |
141 |
1.04e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112712
AA Change: V97A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000108332
Gene: ENSMUSG00000050447
AA Change: V97A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LU
|
47 |
141 |
1.04e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128451
AA Change: V97A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116803
Gene: ENSMUSG00000050447
AA Change: V97A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Blast:LU
|
47 |
123 |
4e-51 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169232
AA Change: V97A
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000131002
Gene: ENSMUSG00000050447
AA Change: V97A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
LU
|
47 |
141 |
1.04e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,382,414 (GRCm39) |
T1184A |
possibly damaging |
Het |
| A2ml1 |
A |
G |
6: 128,557,375 (GRCm39) |
I106T |
probably damaging |
Het |
| Asic4 |
C |
T |
1: 75,427,510 (GRCm39) |
A12V |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,821,099 (GRCm39) |
V1139D |
probably damaging |
Het |
| Edc4 |
T |
C |
8: 106,616,613 (GRCm39) |
|
probably benign |
Het |
| Eif4h |
A |
T |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Exog |
C |
A |
9: 119,291,592 (GRCm39) |
Q290K |
probably damaging |
Het |
| Fam83c |
A |
T |
2: 155,676,728 (GRCm39) |
I14K |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,033,021 (GRCm39) |
Y268N |
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,056,281 (GRCm39) |
L1144P |
probably damaging |
Het |
| Frem3 |
C |
T |
8: 81,340,944 (GRCm39) |
T1079I |
probably damaging |
Het |
| Gbp10 |
A |
G |
5: 105,368,980 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,404,918 (GRCm39) |
V4496A |
possibly damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,261 (GRCm39) |
R729G |
possibly damaging |
Het |
| Lifr |
T |
A |
15: 7,205,147 (GRCm39) |
C461* |
probably null |
Het |
| Map3k5 |
A |
G |
10: 19,993,933 (GRCm39) |
E973G |
possibly damaging |
Het |
| Mep1b |
A |
T |
18: 21,230,524 (GRCm39) |
N692I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,754 (GRCm39) |
V274A |
probably damaging |
Het |
| Naaa |
A |
G |
5: 92,411,507 (GRCm39) |
I264T |
probably damaging |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,868,162 (GRCm39) |
W300R |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,035 (GRCm39) |
S188P |
possibly damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,300 (GRCm39) |
H228L |
possibly damaging |
Het |
| Or8k3 |
T |
C |
2: 86,058,628 (GRCm39) |
N229S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,616,903 (GRCm39) |
T392I |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,702 (GRCm38) |
W248* |
probably null |
Het |
| Pzp |
T |
A |
6: 128,498,087 (GRCm39) |
E243D |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,846 (GRCm39) |
L542Q |
probably damaging |
Het |
| Recql4 |
G |
A |
15: 76,593,144 (GRCm39) |
T229I |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,894,855 (GRCm39) |
|
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,218,620 (GRCm39) |
Q373L |
probably damaging |
Het |
| Timmdc1 |
A |
G |
16: 38,338,902 (GRCm39) |
|
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,820,209 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
A |
G |
7: 12,152,468 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Lypd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02476:Lypd6
|
APN |
2 |
50,080,740 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0098:Lypd6
|
UTSW |
2 |
50,080,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0098:Lypd6
|
UTSW |
2 |
50,080,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0302:Lypd6
|
UTSW |
2 |
50,055,679 (GRCm39) |
splice site |
probably benign |
|
|
R0464:Lypd6
|
UTSW |
2 |
50,080,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Lypd6
|
UTSW |
2 |
50,080,710 (GRCm39) |
nonsense |
probably null |
|
|
R1843:Lypd6
|
UTSW |
2 |
50,078,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2849:Lypd6
|
UTSW |
2 |
50,055,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Lypd6
|
UTSW |
2 |
50,063,623 (GRCm39) |
nonsense |
probably null |
|
|
R4716:Lypd6
|
UTSW |
2 |
50,078,855 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5802:Lypd6
|
UTSW |
2 |
50,063,613 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8171:Lypd6
|
UTSW |
2 |
50,080,759 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8798:Lypd6
|
UTSW |
2 |
50,078,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9653:Lypd6
|
UTSW |
2 |
50,080,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Lypd6
|
UTSW |
2 |
50,080,819 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation