Incidental Mutation 'IGL02660:Abcd3'
ID |
302510 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcd3
|
Ensembl Gene |
ENSMUSG00000028127 |
Gene Name |
ATP-binding cassette, sub-family D member 3 |
Synonyms |
PMP70, Pxmp1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02660
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
121552423-121608951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 121577669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029770]
[ENSMUST00000197383]
[ENSMUST00000197662]
|
AlphaFold |
P55096 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029770
AA Change: N206K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029770 Gene: ENSMUSG00000028127 AA Change: N206K
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
33 |
N/A |
INTRINSIC |
Pfam:ABC_membrane_2
|
57 |
338 |
8.6e-106 |
PFAM |
AAA
|
465 |
640 |
6.88e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195965
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197383
AA Change: N206K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142387 Gene: ENSMUSG00000028127 AA Change: N206K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:ABC_membrane_2
|
57 |
277 |
2.3e-78 |
PFAM |
AAA
|
355 |
530 |
1.1e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197662
|
SMART Domains |
Protein: ENSMUSP00000143487 Gene: ENSMUSG00000028127
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198169
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities. [provided by MGI curators]
|
Allele List at MGI |
All alleles(11) : Targeted, other(2) Gene trapped(9) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
Shoc2 |
T |
C |
19: 53,976,452 (GRCm39) |
I114T |
probably benign |
Het |
Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
probably damaging |
Het |
|
Other mutations in Abcd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Abcd3
|
APN |
3 |
121,570,642 (GRCm39) |
splice site |
probably benign |
|
IGL00670:Abcd3
|
APN |
3 |
121,569,333 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02473:Abcd3
|
APN |
3 |
121,562,893 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02993:Abcd3
|
APN |
3 |
121,567,659 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03131:Abcd3
|
APN |
3 |
121,575,640 (GRCm39) |
splice site |
probably benign |
|
3-1:Abcd3
|
UTSW |
3 |
121,553,949 (GRCm39) |
missense |
probably benign |
|
R0324:Abcd3
|
UTSW |
3 |
121,562,816 (GRCm39) |
missense |
probably null |
0.00 |
R0599:Abcd3
|
UTSW |
3 |
121,558,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R0682:Abcd3
|
UTSW |
3 |
121,563,216 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1109:Abcd3
|
UTSW |
3 |
121,573,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Abcd3
|
UTSW |
3 |
121,558,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R1544:Abcd3
|
UTSW |
3 |
121,578,122 (GRCm39) |
missense |
probably benign |
0.11 |
R1571:Abcd3
|
UTSW |
3 |
121,586,491 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1779:Abcd3
|
UTSW |
3 |
121,575,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R2429:Abcd3
|
UTSW |
3 |
121,586,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R4326:Abcd3
|
UTSW |
3 |
121,555,119 (GRCm39) |
missense |
probably benign |
0.06 |
R4676:Abcd3
|
UTSW |
3 |
121,567,815 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4830:Abcd3
|
UTSW |
3 |
121,553,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R4929:Abcd3
|
UTSW |
3 |
121,562,395 (GRCm39) |
splice site |
probably null |
|
R4980:Abcd3
|
UTSW |
3 |
121,562,917 (GRCm39) |
splice site |
probably null |
|
R5052:Abcd3
|
UTSW |
3 |
121,563,162 (GRCm39) |
critical splice donor site |
probably null |
|
R5384:Abcd3
|
UTSW |
3 |
121,555,059 (GRCm39) |
splice site |
probably null |
|
R5616:Abcd3
|
UTSW |
3 |
121,566,009 (GRCm39) |
missense |
probably benign |
0.00 |
R5796:Abcd3
|
UTSW |
3 |
121,578,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R8936:Abcd3
|
UTSW |
3 |
121,569,117 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2015-04-16 |