Incidental Mutation 'R7990:Abcd4'
| ID |
656394 |
| 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 |
046031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R7990 (G1)
|
| Quality Score |
163.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84648634-84664259 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 84651162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[ENSMUST00000222581]
[ENSMUST00000223107]
|
| AlphaFold |
O89016 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021666
|
| SMART Domains |
Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
| 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: ENSMUST00000222581
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223107
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,970,549 (GRCm39) |
V28I |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,472,308 (GRCm39) |
T167A |
probably damaging |
Het |
| Asap1 |
T |
C |
15: 64,044,586 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 80,024,079 (GRCm39) |
C1730* |
probably null |
Het |
| Atp8b1 |
T |
C |
18: 64,671,748 (GRCm39) |
T1092A |
possibly damaging |
Het |
| C130050O18Rik |
A |
G |
5: 139,400,672 (GRCm39) |
T242A |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,934,244 (GRCm39) |
V211A |
probably damaging |
Het |
| Ccnl1 |
A |
G |
3: 65,854,314 (GRCm39) |
S436P |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,632,547 (GRCm39) |
E268G |
probably damaging |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,709,577 (GRCm39) |
K2480T |
unknown |
Het |
| Cryba1 |
T |
C |
11: 77,614,411 (GRCm39) |
T21A |
possibly damaging |
Het |
| Csn1s1 |
C |
T |
5: 87,827,912 (GRCm39) |
A259V |
possibly damaging |
Het |
| Dap3 |
A |
C |
3: 88,835,814 (GRCm39) |
Y206* |
probably null |
Het |
| Etnppl |
T |
C |
3: 130,424,308 (GRCm39) |
I360T |
possibly damaging |
Het |
| Gal3st3 |
A |
T |
19: 5,352,617 (GRCm39) |
M15L |
probably benign |
Het |
| Gdf5 |
A |
G |
2: 155,783,749 (GRCm39) |
V401A |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,792,137 (GRCm39) |
S628P |
possibly damaging |
Het |
| Gm9493 |
A |
T |
19: 23,597,397 (GRCm39) |
I98F |
possibly damaging |
Het |
| Grin2a |
T |
C |
16: 9,397,040 (GRCm39) |
K1016E |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,452 (GRCm39) |
N850D |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,685,629 (GRCm39) |
L466I |
unknown |
Het |
| Jkampl |
T |
C |
6: 73,446,528 (GRCm39) |
Y7C |
probably damaging |
Het |
| Kcnj16 |
C |
A |
11: 110,915,886 (GRCm39) |
R183S |
probably damaging |
Het |
| Kcnk2 |
A |
C |
1: 188,942,102 (GRCm39) |
L389R |
probably damaging |
Het |
| Kdm4c |
A |
C |
4: 74,309,685 (GRCm39) |
K949N |
probably damaging |
Het |
| Kif3b |
G |
A |
2: 153,159,383 (GRCm39) |
E395K |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Map3k1 |
A |
T |
13: 111,892,696 (GRCm39) |
M853K |
probably benign |
Het |
| Metap1 |
T |
G |
3: 138,186,526 (GRCm39) |
T68P |
probably benign |
Het |
| Mfsd11 |
T |
C |
11: 116,750,323 (GRCm39) |
V114A |
possibly damaging |
Het |
| Mroh1 |
G |
A |
15: 76,336,475 (GRCm39) |
R1566H |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,529 (GRCm39) |
M233K |
probably damaging |
Het |
| Ncor1 |
T |
G |
11: 62,240,321 (GRCm39) |
|
probably null |
Het |
| Npl |
A |
T |
1: 153,413,230 (GRCm39) |
V29D |
possibly damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,497 (GRCm39) |
V219I |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,881,948 (GRCm39) |
I65M |
possibly damaging |
Het |
| Rabepk |
C |
T |
2: 34,670,720 (GRCm39) |
V247I |
probably benign |
Het |
| Rere |
C |
T |
4: 150,699,327 (GRCm39) |
P804S |
unknown |
Het |
| Rpgrip1 |
A |
T |
14: 52,366,975 (GRCm39) |
Y265F |
possibly damaging |
Het |
| Slc10a1 |
T |
C |
12: 81,000,554 (GRCm39) |
D315G |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,213,246 (GRCm39) |
N555K |
probably benign |
Het |
| Spata17 |
T |
A |
1: 186,872,592 (GRCm39) |
H26L |
unknown |
Het |
| Sphkap |
C |
T |
1: 83,245,066 (GRCm39) |
D1518N |
probably damaging |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Tmx2 |
A |
G |
2: 84,506,480 (GRCm39) |
F71L |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,274,996 (GRCm39) |
L1823Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,983 (GRCm39) |
D612E |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,819,752 (GRCm39) |
L1484Q |
|
Het |
| Zan |
A |
G |
5: 137,391,352 (GRCm39) |
S4711P |
unknown |
Het |
| Zdhhc1 |
A |
G |
8: 106,203,001 (GRCm39) |
|
probably null |
Het |
| Zfp971 |
C |
T |
2: 177,675,361 (GRCm39) |
T320I |
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 |
|
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'- TCTACCCAAGATACGGATCCTG -3'
(R):5'- ATGGTAAAGCTGATGGGCTGTC -3'
Sequencing Primer
(F):5'- CCAAGATACGGATCCTGAACTGGTG -3'
(R):5'- AAGCTGATGGGCTGTCTGCTG -3'
|
| Posted On |
2020-11-04 |
Incidental Mutation