Incidental Mutation 'R7601:Abcd4'
| ID |
588020 |
| 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 |
045643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R7601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84648634-84664259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84660719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 129
(Y129H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[ENSMUST00000221070]
[ENSMUST00000222581]
[ENSMUST00000223107]
|
| AlphaFold |
O89016 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021666
AA Change: Y129H
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: Y129H
| 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 |
probably benign
Transcript: ENSMUST00000221070
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222581
AA Change: Y129H
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223107
AA Change: Y125H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,741 (GRCm39) |
L16P |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,193,882 (GRCm39) |
Y746* |
probably null |
Het |
| Acot10 |
T |
C |
15: 20,665,715 (GRCm39) |
D342G |
probably damaging |
Het |
| Als2 |
G |
T |
1: 59,209,161 (GRCm39) |
T1466K |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,687,603 (GRCm39) |
I465N |
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,846,627 (GRCm39) |
S309P |
probably damaging |
Het |
| Cdh22 |
A |
G |
2: 164,954,466 (GRCm39) |
L685P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,772 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,464,655 (GRCm39) |
E145* |
probably null |
Het |
| Dync1i1 |
T |
A |
6: 5,905,129 (GRCm39) |
V161E |
probably benign |
Het |
| Eeig2 |
T |
A |
3: 108,895,628 (GRCm39) |
T151S |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,398,147 (GRCm39) |
G279D |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,405,042 (GRCm39) |
K20R |
possibly damaging |
Het |
| Hspa4l |
T |
C |
3: 40,738,788 (GRCm39) |
|
probably null |
Het |
| Impg2 |
A |
T |
16: 56,080,394 (GRCm39) |
I733L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,604,208 (GRCm39) |
V32A |
probably benign |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lum |
A |
T |
10: 97,404,168 (GRCm39) |
Y21F |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,216,454 (GRCm39) |
S2740P |
unknown |
Het |
| Nav1 |
A |
T |
1: 135,388,176 (GRCm39) |
D1082E |
unknown |
Het |
| Nmur1 |
A |
C |
1: 86,315,741 (GRCm39) |
C41W |
probably damaging |
Het |
| Or10ad1c |
G |
A |
15: 98,084,860 (GRCm39) |
H273Y |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,565 (GRCm39) |
V267A |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,597 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,674 (GRCm39) |
V76A |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,094,808 (GRCm39) |
S531P |
not run |
Het |
| Phtf1 |
T |
A |
3: 103,901,161 (GRCm39) |
H403Q |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,210,220 (GRCm39) |
|
probably null |
Het |
| Pigh |
G |
A |
12: 79,132,479 (GRCm39) |
T111I |
probably damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,304 (GRCm39) |
E88G |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,720,526 (GRCm39) |
T134M |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,809 (GRCm39) |
Y81F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,847,560 (GRCm39) |
S43P |
probably benign |
Het |
| Sephs2 |
A |
T |
7: 126,872,118 (GRCm39) |
I325K |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,713,994 (GRCm39) |
N750K |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,001,897 (GRCm39) |
M519K |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,072,152 (GRCm39) |
E273G |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,480 (GRCm39) |
S724F |
unknown |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
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 |
|
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 |
|
|
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'- GAACTACTCCCAGCCGTTTC -3'
(R):5'- TTTCGAACCCAGACTCGCAG -3'
Sequencing Primer
(F):5'- TAGCTCCACGGTCTCTCAGAAC -3'
(R):5'- CGCAGGAAGCCATCTCTTC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation