Incidental Mutation 'R9555:Abcd4'
ID |
720718 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcd4
|
Ensembl Gene |
ENSMUSG00000021240 |
Gene Name |
ATP-binding cassette, sub-family D member 4 |
Synonyms |
P69r, Pxmp1l |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R9555 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
84648634-84664259 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84661949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 63
(I63V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[ENSMUST00000221070]
[ENSMUST00000222581]
[ENSMUST00000223107]
|
AlphaFold |
O89016 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021666
AA Change: I63V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000021666 Gene: ENSMUSG00000021240 AA Change: I63V
Domain | Start | End | E-Value | Type |
Pfam:ABC_membrane_2
|
14 |
294 |
5.4e-86 |
PFAM |
AAA
|
413 |
604 |
2.05e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221070
AA Change: I59V
PolyPhen 2
Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222581
AA Change: I63V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223107
AA Change: I59V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
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. The function of this peroxisomal membrane protein is unknown. However, it is speculated that the human protein may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
A |
G |
16: 64,586,947 (GRCm39) |
V259A |
probably benign |
Het |
Agps |
C |
A |
2: 75,683,091 (GRCm39) |
P139T |
probably damaging |
Het |
B130006D01Rik |
A |
T |
11: 95,616,956 (GRCm39) |
H27L |
unknown |
Het |
BC024139 |
A |
G |
15: 76,005,359 (GRCm39) |
V501A |
possibly damaging |
Het |
Cacul1 |
A |
T |
19: 60,533,887 (GRCm39) |
Y238* |
probably null |
Het |
Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
Ddx3y |
G |
T |
Y: 1,265,895 (GRCm39) |
D367E |
probably benign |
Het |
Ecpas |
T |
A |
4: 58,879,083 (GRCm39) |
I69L |
possibly damaging |
Het |
Epb41l4a |
A |
G |
18: 34,009,966 (GRCm39) |
V213A |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Klrb1a |
T |
C |
6: 128,595,427 (GRCm39) |
E142G |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,011,113 (GRCm39) |
I369F |
possibly damaging |
Het |
Lig1 |
T |
C |
7: 13,025,400 (GRCm39) |
V254A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,741,693 (GRCm39) |
D3192V |
|
Het |
Lrp1b |
T |
C |
2: 40,748,438 (GRCm39) |
D3134G |
|
Het |
Map1s |
T |
A |
8: 71,367,236 (GRCm39) |
S714T |
probably benign |
Het |
Marchf2 |
A |
G |
17: 33,922,129 (GRCm39) |
L77P |
probably damaging |
Het |
Nek8 |
A |
G |
11: 78,067,390 (GRCm39) |
F15L |
probably benign |
Het |
Or1s2 |
T |
A |
19: 13,758,360 (GRCm39) |
I126N |
probably damaging |
Het |
Pdzrn4 |
C |
T |
15: 92,297,703 (GRCm39) |
R223C |
probably damaging |
Het |
Per1 |
T |
A |
11: 68,995,574 (GRCm39) |
V718D |
probably benign |
Het |
Pik3ca |
A |
G |
3: 32,505,916 (GRCm39) |
H676R |
probably damaging |
Het |
Pla2g4e |
C |
A |
2: 120,075,400 (GRCm39) |
|
probably benign |
Het |
Proser1 |
A |
T |
3: 53,378,876 (GRCm39) |
I103F |
possibly damaging |
Het |
Pyroxd1 |
G |
A |
6: 142,300,421 (GRCm39) |
A184T |
possibly damaging |
Het |
Rin2 |
C |
T |
2: 145,718,415 (GRCm39) |
Q632* |
probably null |
Het |
Serpinb12 |
C |
T |
1: 106,884,345 (GRCm39) |
H364Y |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,211 (GRCm39) |
E64K |
probably benign |
Het |
Slc38a1 |
C |
T |
15: 96,486,860 (GRCm39) |
V199M |
possibly damaging |
Het |
Tep1 |
A |
G |
14: 51,105,888 (GRCm39) |
I44T |
possibly damaging |
Het |
Trip13 |
T |
A |
13: 74,084,252 (GRCm39) |
T78S |
probably benign |
Het |
Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
Usp28 |
A |
T |
9: 48,952,736 (GRCm39) |
I1015F |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,839,659 (GRCm39) |
T1962A |
|
Het |
Vmn2r100 |
T |
A |
17: 19,743,857 (GRCm39) |
S507T |
probably benign |
Het |
Vmn2r91 |
C |
T |
17: 18,325,792 (GRCm39) |
P137S |
possibly damaging |
Het |
Zfp84 |
G |
T |
7: 29,476,102 (GRCm39) |
V265F |
probably damaging |
Het |
|
Other mutations in Abcd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02075:Abcd4
|
APN |
12 |
84,655,578 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02103:Abcd4
|
APN |
12 |
84,659,138 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02892:Abcd4
|
APN |
12 |
84,651,771 (GRCm39) |
nonsense |
probably null |
|
R0112:Abcd4
|
UTSW |
12 |
84,659,673 (GRCm39) |
splice site |
probably benign |
|
R0128:Abcd4
|
UTSW |
12 |
84,659,126 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0144:Abcd4
|
UTSW |
12 |
84,652,739 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0866:Abcd4
|
UTSW |
12 |
84,658,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R0942:Abcd4
|
UTSW |
12 |
84,659,602 (GRCm39) |
missense |
probably damaging |
0.96 |
R1770:Abcd4
|
UTSW |
12 |
84,661,874 (GRCm39) |
missense |
probably benign |
0.08 |
R1796:Abcd4
|
UTSW |
12 |
84,662,156 (GRCm39) |
missense |
probably benign |
0.09 |
R2113:Abcd4
|
UTSW |
12 |
84,655,790 (GRCm39) |
nonsense |
probably null |
|
R3713:Abcd4
|
UTSW |
12 |
84,658,533 (GRCm39) |
missense |
probably benign |
0.43 |
R3714:Abcd4
|
UTSW |
12 |
84,658,533 (GRCm39) |
missense |
probably benign |
0.43 |
R3715:Abcd4
|
UTSW |
12 |
84,658,533 (GRCm39) |
missense |
probably benign |
0.43 |
R5308:Abcd4
|
UTSW |
12 |
84,650,067 (GRCm39) |
critical splice donor site |
probably null |
|
R5572:Abcd4
|
UTSW |
12 |
84,653,050 (GRCm39) |
missense |
probably benign |
0.04 |
R5632:Abcd4
|
UTSW |
12 |
84,664,076 (GRCm39) |
missense |
probably benign |
0.00 |
R5695:Abcd4
|
UTSW |
12 |
84,660,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R6111:Abcd4
|
UTSW |
12 |
84,661,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R6538:Abcd4
|
UTSW |
12 |
84,658,535 (GRCm39) |
missense |
probably benign |
0.12 |
R7035:Abcd4
|
UTSW |
12 |
84,662,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7139:Abcd4
|
UTSW |
12 |
84,653,072 (GRCm39) |
missense |
probably benign |
|
R7368:Abcd4
|
UTSW |
12 |
84,659,639 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7374:Abcd4
|
UTSW |
12 |
84,653,017 (GRCm39) |
nonsense |
probably null |
|
R7601:Abcd4
|
UTSW |
12 |
84,660,719 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7663:Abcd4
|
UTSW |
12 |
84,652,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7990:Abcd4
|
UTSW |
12 |
84,651,162 (GRCm39) |
splice site |
probably null |
|
R8286:Abcd4
|
UTSW |
12 |
84,649,920 (GRCm39) |
missense |
probably benign |
0.04 |
R8312:Abcd4
|
UTSW |
12 |
84,662,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R8331:Abcd4
|
UTSW |
12 |
84,650,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R8469:Abcd4
|
UTSW |
12 |
84,659,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Abcd4
|
UTSW |
12 |
84,650,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R8726:Abcd4
|
UTSW |
12 |
84,651,171 (GRCm39) |
splice site |
probably benign |
|
R9005:Abcd4
|
UTSW |
12 |
84,655,356 (GRCm39) |
nonsense |
probably null |
|
R9412:Abcd4
|
UTSW |
12 |
84,655,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R9581:Abcd4
|
UTSW |
12 |
84,650,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGCTCTAATTCCCAGAAAGG -3'
(R):5'- TGTTCATGACGCTCTTGTGC -3'
Sequencing Primer
(F):5'- AAGACCCAGAGCTCGGTC -3'
(R):5'- TTGTGCGTGACCCTCCTGG -3'
|
Posted On |
2022-08-09 |