Incidental Mutation 'R1453:Abcd3'
ID |
161590 |
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 |
039508-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1453 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
121552423-121608951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121558710 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 595
(D595E)
|
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: D595E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029770 Gene: ENSMUSG00000028127 AA Change: D595E
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: D485E
|
SMART Domains |
Protein: ENSMUSP00000142387 Gene: ENSMUSG00000028127 AA Change: D485E
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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,862,763 (GRCm39) |
I240M |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,025,614 (GRCm39) |
|
probably null |
Het |
Arpc1b |
A |
G |
5: 145,062,555 (GRCm39) |
D223G |
probably damaging |
Het |
Atp6ap1l |
T |
A |
13: 91,046,866 (GRCm39) |
T104S |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,969 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
T |
C |
2: 118,587,903 (GRCm39) |
D477G |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,666,197 (GRCm39) |
V39A |
possibly damaging |
Het |
Clmp |
C |
G |
9: 40,693,737 (GRCm39) |
S318W |
probably damaging |
Het |
Cmas |
T |
C |
6: 142,717,853 (GRCm39) |
S323P |
probably damaging |
Het |
Cnksr3 |
T |
C |
10: 7,079,132 (GRCm39) |
T80A |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,453,298 (GRCm39) |
Y484C |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,075 (GRCm39) |
V154A |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 49,990,316 (GRCm39) |
V252I |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,341,876 (GRCm39) |
Y3003C |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,370,480 (GRCm39) |
|
probably null |
Het |
Dppa4 |
G |
A |
16: 48,111,596 (GRCm39) |
A194T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,228,527 (GRCm39) |
V2218A |
possibly damaging |
Het |
Dytn |
G |
C |
1: 63,673,032 (GRCm39) |
S457C |
probably damaging |
Het |
Fndc3a |
G |
A |
14: 72,777,768 (GRCm39) |
Q1101* |
probably null |
Het |
Focad |
A |
T |
4: 88,275,679 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
Gm5093 |
A |
G |
17: 46,750,622 (GRCm39) |
F135S |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,969,759 (GRCm39) |
D71E |
possibly damaging |
Het |
Heatr5b |
G |
A |
17: 79,124,992 (GRCm39) |
R587C |
probably damaging |
Het |
Jakmip2 |
T |
C |
18: 43,692,279 (GRCm39) |
|
probably null |
Het |
Mier3 |
T |
A |
13: 111,841,778 (GRCm39) |
L111Q |
probably damaging |
Het |
Mrgprg |
G |
A |
7: 143,318,779 (GRCm39) |
S111F |
possibly damaging |
Het |
Mybl1 |
T |
C |
1: 9,741,901 (GRCm39) |
K677R |
probably benign |
Het |
Nhsl1 |
T |
C |
10: 18,407,323 (GRCm39) |
S1486P |
probably damaging |
Het |
Nup133 |
A |
G |
8: 124,642,114 (GRCm39) |
I783T |
probably benign |
Het |
Or10d4c |
A |
T |
9: 39,558,459 (GRCm39) |
T146S |
probably benign |
Het |
Or5an1c |
A |
T |
19: 12,218,956 (GRCm39) |
I23K |
probably benign |
Het |
Pigr |
A |
T |
1: 130,769,281 (GRCm39) |
I31L |
probably benign |
Het |
Plaat5 |
A |
G |
19: 7,616,999 (GRCm39) |
|
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,338,917 (GRCm39) |
M39K |
possibly damaging |
Het |
Rapgef6 |
T |
A |
11: 54,530,553 (GRCm39) |
|
probably null |
Het |
Rinl |
T |
C |
7: 28,496,329 (GRCm39) |
C437R |
probably damaging |
Het |
Shank1 |
T |
C |
7: 43,965,499 (GRCm39) |
S192P |
unknown |
Het |
Slc2a10 |
A |
T |
2: 165,359,570 (GRCm39) |
Y478F |
probably damaging |
Het |
Slc37a3 |
A |
T |
6: 39,343,877 (GRCm39) |
L12H |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,414,393 (GRCm39) |
C970S |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,496,857 (GRCm39) |
S119P |
probably damaging |
Het |
Stim2 |
C |
A |
5: 54,273,451 (GRCm39) |
D568E |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf3 |
A |
G |
12: 111,221,757 (GRCm39) |
E306G |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,049,714 (GRCm39) |
S811P |
possibly damaging |
Het |
Ubr7 |
A |
G |
12: 102,735,437 (GRCm39) |
K299E |
probably benign |
Het |
Urb1 |
C |
A |
16: 90,593,380 (GRCm39) |
V251L |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,422,590 (GRCm39) |
E183D |
probably damaging |
Het |
Zfp35 |
T |
G |
18: 24,136,557 (GRCm39) |
Y300* |
probably null |
Het |
Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
Zfp938 |
C |
T |
10: 82,063,632 (GRCm39) |
|
probably null |
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 |
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 |
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'- TCTCAGTAGCATTCTCGTTGCTTGG -3'
(R):5'- AGCTTTCAGAGACAGCACACTTCC -3'
Sequencing Primer
(F):5'- GAATTCCCTCTGGGCCAAG -3'
(R):5'- attatttCTGTCTCTGGGATGATGC -3'
|
Posted On |
2014-03-14 |