Incidental Mutation 'R3715:Abcd4'
| ID |
259870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abcd4
|
| Ensembl Gene |
ENSMUSG00000021240 |
| Gene Name |
ATP-binding cassette, sub-family D member 4 |
| Synonyms |
P69r, Pxmp1l |
| MMRRC Submission |
040708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R3715 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84648634-84664259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84658533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 223
(M223I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[ENSMUST00000221070]
[ENSMUST00000222581]
[ENSMUST00000223107]
|
| AlphaFold |
O89016 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021666
AA Change: M227I
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: M227I
| 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 |
noncoding transcript
Transcript: ENSMUST00000220553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223107
AA Change: M223I
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.5424 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Aaas |
T |
C |
15: 102,248,771 (GRCm39) |
I236V |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,135,213 (GRCm39) |
I246N |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,508 (GRCm39) |
D582G |
probably damaging |
Het |
| Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
A |
G |
6: 146,724,187 (GRCm39) |
K360E |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,068,880 (GRCm39) |
I282M |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
| Dlat |
A |
G |
9: 50,549,354 (GRCm39) |
V510A |
probably damaging |
Het |
| Eaf1 |
T |
C |
14: 31,224,402 (GRCm39) |
I173T |
possibly damaging |
Het |
| Elavl3 |
G |
T |
9: 21,929,895 (GRCm39) |
D336E |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,219,420 (GRCm39) |
Y69C |
probably benign |
Het |
| Fam168a |
A |
G |
7: 100,473,432 (GRCm39) |
N107S |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,793,829 (GRCm39) |
|
probably null |
Het |
| Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
| Glt8d2 |
C |
A |
10: 82,488,571 (GRCm39) |
A300S |
probably benign |
Het |
| Hcn4 |
G |
A |
9: 58,751,319 (GRCm39) |
R315H |
unknown |
Het |
| Lipk |
A |
G |
19: 34,017,829 (GRCm39) |
N289S |
probably damaging |
Het |
| Lyg1 |
G |
T |
1: 37,989,759 (GRCm39) |
R43S |
probably damaging |
Het |
| Marchf6 |
A |
G |
15: 31,465,405 (GRCm39) |
L833P |
probably benign |
Het |
| Mc4r |
T |
A |
18: 66,992,892 (GRCm39) |
N74Y |
probably damaging |
Het |
| Med17 |
G |
A |
9: 15,175,062 (GRCm39) |
|
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
| Or2t26 |
T |
C |
11: 49,039,642 (GRCm39) |
L186P |
probably damaging |
Het |
| Or4c15 |
A |
G |
2: 88,759,757 (GRCm39) |
W301R |
probably benign |
Het |
| Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,534,215 (GRCm39) |
K1397* |
probably null |
Het |
| Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
| Rbfox2 |
A |
G |
15: 76,983,451 (GRCm39) |
I270T |
probably damaging |
Het |
| Rnf217 |
G |
T |
10: 31,410,728 (GRCm39) |
C322* |
probably null |
Het |
| Sbk1 |
A |
G |
7: 125,889,183 (GRCm39) |
T50A |
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,688,402 (GRCm39) |
T248A |
probably damaging |
Het |
| Smim29 |
G |
A |
17: 27,785,043 (GRCm39) |
|
probably benign |
Het |
| Sox30 |
C |
T |
11: 45,875,619 (GRCm39) |
T457I |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,866,187 (GRCm39) |
I52F |
possibly damaging |
Het |
| Syncrip |
A |
T |
9: 88,361,738 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
| Tdrd12 |
T |
C |
7: 35,204,405 (GRCm39) |
E235G |
probably benign |
Het |
| Tmem82 |
A |
T |
4: 141,344,945 (GRCm39) |
|
probably null |
Het |
| Tro |
T |
C |
X: 149,437,230 (GRCm39) |
T476A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,752,272 (GRCm39) |
R772G |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,474 (GRCm39) |
E190G |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,651,095 (GRCm39) |
|
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,741,057 (GRCm39) |
S156T |
possibly damaging |
Het |
| Zswim5 |
A |
G |
4: 116,819,755 (GRCm39) |
T387A |
probably benign |
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 |
|
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 |
|
R9555:Abcd4
|
UTSW |
12 |
84,661,949 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9581:Abcd4
|
UTSW |
12 |
84,650,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGTCCCCATACCTAAGG -3'
(R):5'- AGGTCCCATAGTCAAGCCTAC -3'
Sequencing Primer
(F):5'- GTCCCCATACCTAAGGACAGGG -3'
(R):5'- CTGAGGTCAGCACTGTTAGTACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation