Incidental Mutation 'IGL00793:Ldlrad1'
| ID |
12706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ldlrad1
|
| Ensembl Gene |
ENSMUSG00000070877 |
| Gene Name |
low density lipoprotein receptor class A domain containing 1 |
| Synonyms |
OTTMUSG00000008594 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
107066377-107075257 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107075086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 211
(D211G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094916]
|
| AlphaFold |
D3YYZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094916
AA Change: D211G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092521
Gene: ENSMUSG00000070877
AA Change: D211G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
LDLa
|
89 |
128 |
1.01e-5 |
SMART |
|
LDLa
|
135 |
172 |
5.97e-1 |
SMART |
|
LDLa
|
175 |
217 |
2.85e-1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,769,792 (GRCm39) |
S170T |
probably damaging |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Ldlrad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03180:Ldlrad1
|
APN |
4 |
107,075,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Ldlrad1
|
APN |
4 |
107,072,035 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0458:Ldlrad1
|
UTSW |
4 |
107,073,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1556:Ldlrad1
|
UTSW |
4 |
107,075,010 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1610:Ldlrad1
|
UTSW |
4 |
107,072,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Ldlrad1
|
UTSW |
4 |
107,072,158 (GRCm39) |
nonsense |
probably null |
|
|
R4510:Ldlrad1
|
UTSW |
4 |
107,066,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4511:Ldlrad1
|
UTSW |
4 |
107,066,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7000:Ldlrad1
|
UTSW |
4 |
107,066,777 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7795:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7797:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7964:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7965:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7990:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8004:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8005:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8007:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8077:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8078:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8089:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8130:Ldlrad1
|
UTSW |
4 |
107,066,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8883:Ldlrad1
|
UTSW |
4 |
107,073,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Ldlrad1
|
UTSW |
4 |
107,072,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-06 |
Incidental Mutation