Incidental Mutation 'IGL03140:Ldlrad4'
| ID |
410675 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ldlrad4
|
| Ensembl Gene |
ENSMUSG00000024544 |
| Gene Name |
low density lipoprotein receptor class A domain containing 4 |
| Synonyms |
8230401C20Rik, A430108L08Rik, D18Ertd653e, D330030L18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
68065345-68393621 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68387585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 299
(D299G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063775]
|
| AlphaFold |
Q8BWJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063775
AA Change: D299G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068471
Gene: ENSMUSG00000024544
AA Change: D299G
| Domain | Start | End | E-Value | Type |
|---|
|
LDLa
|
14 |
49 |
3.69e-8 |
SMART |
|
transmembrane domain
|
65 |
87 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
G |
A |
19: 8,982,576 (GRCm39) |
|
probably benign |
Het |
| Cd48 |
T |
C |
1: 171,523,451 (GRCm39) |
V98A |
probably damaging |
Het |
| Chd9 |
A |
T |
8: 91,768,856 (GRCm39) |
R2485S |
possibly damaging |
Het |
| Clec4a2 |
T |
C |
6: 123,117,735 (GRCm39) |
|
probably benign |
Het |
| Ddx21 |
A |
G |
10: 62,429,850 (GRCm39) |
L298S |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,342,089 (GRCm39) |
E499G |
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,166 (GRCm39) |
N2870S |
probably damaging |
Het |
| Ints8 |
G |
A |
4: 11,235,565 (GRCm39) |
P355S |
probably damaging |
Het |
| Kmo |
T |
A |
1: 175,476,786 (GRCm39) |
V200D |
probably damaging |
Het |
| Mus81 |
T |
C |
19: 5,533,984 (GRCm39) |
T416A |
probably damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,507,400 (GRCm39) |
S889P |
probably benign |
Het |
| Nlrp9c |
T |
A |
7: 26,079,914 (GRCm39) |
D704V |
probably benign |
Het |
| Olfml2a |
A |
G |
2: 38,837,303 (GRCm39) |
K149E |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,887,222 (GRCm39) |
D206G |
probably damaging |
Het |
| Pcdhb3 |
T |
G |
18: 37,434,272 (GRCm39) |
H79Q |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,826,247 (GRCm39) |
N249D |
probably benign |
Het |
| Rnf19b |
T |
A |
4: 128,977,889 (GRCm39) |
V701D |
probably benign |
Het |
| Setd2 |
T |
C |
9: 110,444,020 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,800,533 (GRCm39) |
Y952C |
probably damaging |
Het |
| Vmn1r205 |
T |
C |
13: 22,776,746 (GRCm39) |
I119V |
possibly damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,307,585 (GRCm39) |
D270E |
probably damaging |
Het |
|
| Other mutations in Ldlrad4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02939:Ldlrad4
|
APN |
18 |
68,387,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Ldlrad4
|
UTSW |
18 |
68,383,669 (GRCm39) |
missense |
probably benign |
|
|
R1750:Ldlrad4
|
UTSW |
18 |
68,239,758 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6347:Ldlrad4
|
UTSW |
18 |
68,368,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7774:Ldlrad4
|
UTSW |
18 |
68,368,863 (GRCm39) |
nonsense |
probably null |
|
|
R7775:Ldlrad4
|
UTSW |
18 |
68,368,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7777:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7778:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7812:Ldlrad4
|
UTSW |
18 |
68,239,742 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7827:Ldlrad4
|
UTSW |
18 |
68,387,495 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7977:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7983:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7984:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7986:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7987:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8017:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8018:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8019:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8020:Ldlrad4
|
UTSW |
18 |
68,368,740 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8151:Ldlrad4
|
UTSW |
18 |
68,383,643 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8154:Ldlrad4
|
UTSW |
18 |
68,387,293 (GRCm39) |
nonsense |
probably null |
|
|
R8157:Ldlrad4
|
UTSW |
18 |
68,387,293 (GRCm39) |
nonsense |
probably null |
|
|
R9083:Ldlrad4
|
UTSW |
18 |
68,197,746 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9563:Ldlrad4
|
UTSW |
18 |
68,387,551 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation