Incidental Mutation 'IGL01129:Lypd3'
| ID |
51612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lypd3
|
| Ensembl Gene |
ENSMUSG00000057454 |
| Gene Name |
Ly6/Plaur domain containing 3 |
| Synonyms |
2310061G07Rik, C4.4A |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
24335995-24340543 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24340018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 362
(M362V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080718]
|
| AlphaFold |
Q91YK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080718
AA Change: M362V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079543
Gene: ENSMUSG00000057454
AA Change: M362V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
LU
|
33 |
128 |
7.26e-26 |
SMART |
|
Pfam:UPAR_LY6
|
142 |
224 |
1.3e-16 |
PFAM |
|
low complexity region
|
234 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180699
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice show no overt epidermal phenotype and have normal squamous epithelia morphology but are lighter and leaner than controls. Males display delayed wound healing whereas females show reduced food intake and a lower incidence of invasive lesions in a BBN-induced bladder cancer model. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Lypd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Lypd3
|
APN |
7 |
24,336,063 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0200:Lypd3
|
UTSW |
7 |
24,339,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Lypd3
|
UTSW |
7 |
24,337,969 (GRCm39) |
nonsense |
probably null |
|
|
R1706:Lypd3
|
UTSW |
7 |
24,339,755 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5714:Lypd3
|
UTSW |
7 |
24,338,494 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5771:Lypd3
|
UTSW |
7 |
24,339,787 (GRCm39) |
missense |
probably benign |
|
|
R6137:Lypd3
|
UTSW |
7 |
24,339,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6908:Lypd3
|
UTSW |
7 |
24,337,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Lypd3
|
UTSW |
7 |
24,337,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Lypd3
|
UTSW |
7 |
24,337,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Lypd3
|
UTSW |
7 |
24,337,865 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8769:Lypd3
|
UTSW |
7 |
24,337,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Lypd3
|
UTSW |
7 |
24,338,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation