Incidental Mutation 'R0682:Abcd3'
| ID |
60996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcd3
|
| Ensembl Gene |
ENSMUSG00000028127 |
| Gene Name |
ATP-binding cassette, sub-family D member 3 |
| Synonyms |
PMP70, Pxmp1 |
| MMRRC Submission |
038867-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0682 (G1)
|
| Quality Score |
122 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121552423-121608951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 121563216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 471
(I471S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029770]
[ENSMUST00000197383]
[ENSMUST00000197662]
|
| AlphaFold |
P55096 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029770
AA Change: I471S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: I471S
| 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: ENSMUST00000196340
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000197383
AA Change: I361S
|
| SMART Domains |
Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
AA Change: I361S
| 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: ENSMUST00000199084
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.5%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
T |
C |
5: 146,121,650 (GRCm39) |
H83R |
probably benign |
Het |
| Abcg1 |
G |
A |
17: 31,330,225 (GRCm39) |
V509I |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,880,783 (GRCm39) |
N497K |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,919,351 (GRCm39) |
S479G |
unknown |
Het |
| Asic2 |
T |
C |
11: 80,777,506 (GRCm39) |
I402V |
possibly damaging |
Het |
| Atp1a2 |
G |
A |
1: 172,112,164 (GRCm39) |
T577I |
probably benign |
Het |
| Atraid |
T |
A |
5: 31,209,612 (GRCm39) |
I92K |
probably damaging |
Het |
| Dpp10 |
C |
A |
1: 123,832,852 (GRCm39) |
A31S |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,544,232 (GRCm39) |
F118L |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,222 (GRCm39) |
Y418C |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,389,263 (GRCm39) |
C3927S |
possibly damaging |
Het |
| Ifit2 |
G |
A |
19: 34,551,012 (GRCm39) |
R184H |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,428,620 (GRCm39) |
N113K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,185,653 (GRCm39) |
Y1354F |
probably benign |
Het |
| Muc1 |
T |
A |
3: 89,138,439 (GRCm39) |
I427N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,359,406 (GRCm39) |
T1288A |
possibly damaging |
Het |
| Or7g32 |
C |
A |
9: 19,388,645 (GRCm39) |
M300I |
probably benign |
Het |
| Or9i14 |
C |
T |
19: 13,792,501 (GRCm39) |
C151Y |
possibly damaging |
Het |
| Pex26 |
T |
A |
6: 121,161,363 (GRCm39) |
V47E |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,436 (GRCm39) |
I871V |
probably damaging |
Het |
| Rasal2 |
A |
G |
1: 157,006,779 (GRCm39) |
S111P |
probably damaging |
Het |
| Rnf133 |
A |
T |
6: 23,649,569 (GRCm39) |
I163N |
probably damaging |
Het |
| Rrp8 |
A |
C |
7: 105,383,218 (GRCm39) |
D349E |
probably damaging |
Het |
| Sdhd |
G |
T |
9: 50,511,905 (GRCm39) |
Q38K |
probably benign |
Het |
| Ssh1 |
C |
T |
5: 114,098,718 (GRCm39) |
S117N |
probably damaging |
Het |
| Tbc1d2b |
A |
G |
9: 90,131,915 (GRCm39) |
M148T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,645,665 (GRCm39) |
S470P |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,679,877 (GRCm39) |
Q284* |
probably null |
Het |
| Trim30a |
A |
C |
7: 104,078,389 (GRCm39) |
V229G |
probably damaging |
Het |
| Trim43a |
G |
A |
9: 88,464,199 (GRCm39) |
E37K |
probably benign |
Het |
| U2surp |
C |
T |
9: 95,366,496 (GRCm39) |
V470I |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,064,259 (GRCm39) |
D90G |
probably damaging |
Het |
| Vmn1r229 |
A |
T |
17: 21,034,950 (GRCm39) |
E65V |
probably benign |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,129 (GRCm39) |
E568G |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,235,886 (GRCm39) |
E363G |
probably damaging |
Het |
| Wrap53 |
A |
G |
11: 69,453,272 (GRCm39) |
S390P |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,757,848 (GRCm39) |
S814P |
probably benign |
Het |
| Zfp329 |
A |
G |
7: 12,544,211 (GRCm39) |
C438R |
probably damaging |
Het |
| Zkscan8 |
T |
C |
13: 21,710,930 (GRCm39) |
Y60C |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTCTCAGGTTTAGTAAGCCGC -3'
(R):5'- TAAGAGGGACCCATTCCCAGTGAC -3'
Sequencing Primer
(F):5'- GGTTTAGTAAGCCGCCCTCC -3'
(R):5'- CCCAGTGACCTGGAAGAATATTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation