Incidental Mutation 'IGL00670:Abcd3'
| ID |
8543 |
| 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 # |
IGL00670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
121552423-121608951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121569333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 333
(V333D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029770]
[ENSMUST00000197383]
[ENSMUST00000197662]
|
| AlphaFold |
P55096 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029770
AA Change: V333D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: V333D
| 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 |
probably benign
Transcript: ENSMUST00000197383
|
| SMART Domains |
Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
| 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 |
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,633,007 (GRCm39) |
L245Q |
probably damaging |
Het |
| Aff2 |
T |
A |
X: 68,588,199 (GRCm39) |
M122K |
possibly damaging |
Het |
| Car10 |
C |
T |
11: 93,195,483 (GRCm39) |
|
probably benign |
Het |
| Cyp2d26 |
T |
A |
15: 82,675,942 (GRCm39) |
M257L |
probably benign |
Het |
| Cyp2j5 |
T |
G |
4: 96,522,512 (GRCm39) |
D354A |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,814,081 (GRCm39) |
K59E |
probably damaging |
Het |
| Fndc3c1 |
T |
C |
X: 105,489,383 (GRCm39) |
D346G |
probably benign |
Het |
| Med14 |
G |
A |
X: 12,620,428 (GRCm39) |
A95V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,764,482 (GRCm39) |
L155P |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,919,206 (GRCm39) |
D312G |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,059 (GRCm39) |
N618K |
probably benign |
Het |
| Prb1a |
A |
T |
6: 132,184,109 (GRCm39) |
|
probably benign |
Het |
| Slc5a4a |
A |
T |
10: 75,999,567 (GRCm39) |
I210F |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,241 (GRCm39) |
I522N |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,657,335 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02473:Abcd3
|
APN |
3 |
121,562,893 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02660:Abcd3
|
APN |
3 |
121,577,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2012-12-06 |
Incidental Mutation