Incidental Mutation 'R1571:Abcd3'
| ID |
186194 |
| 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 |
039610-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1571 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
121552423-121608951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121586491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 70
(I70V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142387
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029770]
[ENSMUST00000197383]
[ENSMUST00000197662]
|
| AlphaFold |
P55096 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029770
AA Change: I70V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: I70V
| 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 |
possibly damaging
Transcript: ENSMUST00000197383
AA Change: I70V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
AA Change: I70V
| 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 |
silent
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199593
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
| 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 |
|---|
| 2610524H06Rik |
A |
G |
5: 114,961,372 (GRCm39) |
|
probably null |
Het |
| Acad10 |
T |
C |
5: 121,759,411 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Atp2b3 |
T |
G |
X: 72,588,712 (GRCm39) |
V701G |
probably damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,342,347 (GRCm39) |
M21K |
probably damaging |
Het |
| Cdc25a |
C |
T |
9: 109,710,614 (GRCm39) |
T106I |
possibly damaging |
Het |
| Cdhr5 |
T |
C |
7: 140,852,083 (GRCm39) |
T190A |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
| Clcn6 |
T |
C |
4: 148,097,226 (GRCm39) |
T614A |
possibly damaging |
Het |
| Cntln |
A |
T |
4: 84,865,823 (GRCm39) |
R160* |
probably null |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dock3 |
C |
A |
9: 106,815,158 (GRCm39) |
M1236I |
possibly damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,847,719 (GRCm39) |
H213Q |
probably damaging |
Het |
| Eya1 |
T |
A |
1: 14,279,141 (GRCm39) |
H372L |
probably damaging |
Het |
| Fam13b |
A |
G |
18: 34,630,485 (GRCm39) |
V91A |
possibly damaging |
Het |
| Hat1 |
T |
A |
2: 71,264,519 (GRCm39) |
I319K |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,853 (GRCm39) |
N123D |
probably benign |
Het |
| Kcns3 |
C |
A |
12: 11,141,551 (GRCm39) |
G383W |
probably damaging |
Het |
| Kprp |
A |
T |
3: 92,732,689 (GRCm39) |
C120* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,672,774 (GRCm39) |
C2456S |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,366,658 (GRCm39) |
D539E |
probably damaging |
Het |
| Matn3 |
T |
C |
12: 9,005,466 (GRCm39) |
L292S |
probably damaging |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,947 (GRCm39) |
I24N |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,958,159 (GRCm39) |
L37P |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,313,544 (GRCm39) |
H925L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,409,290 (GRCm39) |
I3219N |
probably damaging |
Het |
| Nom1 |
C |
T |
5: 29,647,633 (GRCm39) |
Q623* |
probably null |
Het |
| Nrm |
T |
A |
17: 36,175,079 (GRCm39) |
W136R |
probably damaging |
Het |
| Or8h8 |
A |
C |
2: 86,753,789 (GRCm39) |
V29G |
probably benign |
Het |
| Pde7b |
T |
C |
10: 20,288,836 (GRCm39) |
N298S |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,277,990 (GRCm39) |
A305T |
possibly damaging |
Het |
| Pimreg |
T |
C |
11: 71,936,042 (GRCm39) |
L175P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,390,237 (GRCm39) |
D1451G |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,355,128 (GRCm39) |
S212G |
probably benign |
Het |
| Rhpn1 |
C |
T |
15: 75,585,967 (GRCm39) |
R627C |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnase4 |
T |
G |
14: 51,342,497 (GRCm39) |
F74V |
probably damaging |
Het |
| Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
| Selp |
T |
C |
1: 163,954,176 (GRCm39) |
Y159H |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,000,853 (GRCm39) |
T21A |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,700,135 (GRCm39) |
C132* |
probably null |
Het |
| Slco3a1 |
T |
C |
7: 74,154,128 (GRCm39) |
D148G |
possibly damaging |
Het |
| Smtn |
G |
A |
11: 3,480,102 (GRCm39) |
P373L |
probably benign |
Het |
| Snx20 |
A |
T |
8: 89,356,597 (GRCm39) |
L73Q |
probably damaging |
Het |
| Sobp |
A |
G |
10: 43,033,942 (GRCm39) |
V128A |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,657,357 (GRCm39) |
T280A |
unknown |
Het |
| Tgfbrap1 |
A |
G |
1: 43,088,973 (GRCm39) |
V810A |
probably benign |
Het |
| Thbs1 |
C |
A |
2: 117,949,678 (GRCm39) |
D589E |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,078,239 (GRCm39) |
Y885H |
probably damaging |
Het |
| Tmem109 |
A |
G |
19: 10,849,993 (GRCm39) |
S100P |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,305,562 (GRCm39) |
K462E |
probably benign |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,538 (GRCm39) |
I257F |
probably damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
| Wdcp |
T |
A |
12: 4,901,924 (GRCm39) |
Y593* |
probably null |
Het |
| Wdr59 |
T |
C |
8: 112,177,682 (GRCm39) |
S907G |
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 |
|
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 |
|
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'- TCTACTGGGGAAAACGGGGCTAAC -3'
(R):5'- TGTCGCAGTTCCCTTAGATGTGATTC -3'
Sequencing Primer
(F):5'- GGGATGTCACATCATCAATACTGG -3'
(R):5'- tcgttacggatggttgtgag -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation