Incidental Mutation 'R5308:Abcd4'
| ID |
434507 |
| 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 |
042891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5308 (G1)
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84648634-84664259 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 84650067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[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 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 |
noncoding transcript
Transcript: ENSMUST00000220678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221948
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223107
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 97.7%
- 10x: 95.4%
- 20x: 91.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
G |
3: 124,199,999 (GRCm39) |
G531A |
probably damaging |
Het |
| 4921504E06Rik |
T |
C |
2: 19,528,892 (GRCm39) |
D163G |
probably damaging |
Het |
| Alg9 |
T |
C |
9: 50,734,011 (GRCm39) |
S570P |
possibly damaging |
Het |
| Angptl3 |
C |
A |
4: 98,922,723 (GRCm39) |
H255N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Cdc37 |
A |
T |
9: 21,052,060 (GRCm39) |
D326E |
probably benign |
Het |
| Cdk13 |
T |
C |
13: 17,946,898 (GRCm39) |
K6R |
probably damaging |
Het |
| Ces1b |
T |
C |
8: 93,793,645 (GRCm39) |
K315E |
probably benign |
Het |
| Cfap61 |
G |
A |
2: 145,951,908 (GRCm39) |
G190S |
probably damaging |
Het |
| Cimap3 |
T |
C |
3: 105,908,419 (GRCm39) |
T107A |
probably benign |
Het |
| Ckap4 |
T |
C |
10: 84,364,238 (GRCm39) |
E275G |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,290,174 (GRCm39) |
|
probably null |
Het |
| Csf3r |
A |
G |
4: 125,929,137 (GRCm39) |
D349G |
probably benign |
Het |
| Cyp2d37-ps |
T |
C |
15: 82,574,012 (GRCm39) |
|
noncoding transcript |
Het |
| Dmbt1 |
T |
A |
7: 130,642,751 (GRCm39) |
C190S |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,049,415 (GRCm39) |
F1670L |
possibly damaging |
Het |
| Dnah5 |
A |
T |
15: 28,229,797 (GRCm39) |
I144F |
possibly damaging |
Het |
| Eno2 |
C |
A |
6: 124,744,056 (GRCm39) |
V84L |
probably damaging |
Het |
| Ercc4 |
G |
T |
16: 12,948,028 (GRCm39) |
R325L |
probably damaging |
Het |
| Fcgr2b |
T |
G |
1: 170,793,279 (GRCm39) |
Q250P |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,606 (GRCm39) |
V109A |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,945,180 (GRCm39) |
K355* |
probably null |
Het |
| Gcfc2 |
T |
C |
6: 81,920,524 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
C |
T |
9: 26,676,055 (GRCm39) |
G509D |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grn |
A |
G |
11: 102,327,018 (GRCm39) |
N160D |
possibly damaging |
Het |
| Hexd |
T |
A |
11: 121,113,095 (GRCm39) |
V510D |
probably damaging |
Het |
| Igfbp1 |
G |
A |
11: 7,149,919 (GRCm39) |
|
probably null |
Het |
| Itga11 |
T |
A |
9: 62,663,051 (GRCm39) |
M589K |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,333,472 (GRCm39) |
S51C |
probably damaging |
Het |
| Klra3 |
T |
C |
6: 130,311,270 (GRCm39) |
|
probably null |
Het |
| Mad2l1 |
T |
C |
6: 66,514,675 (GRCm39) |
|
probably null |
Het |
| Matn3 |
CGGGGCTCGGGGGC |
CGGGGC |
12: 9,002,308 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
A |
9: 59,771,244 (GRCm39) |
Y939N |
probably damaging |
Het |
| Nxpe3 |
C |
T |
16: 55,686,834 (GRCm39) |
S58N |
probably benign |
Het |
| Or1j16 |
T |
A |
2: 36,530,706 (GRCm39) |
Y218* |
probably null |
Het |
| Or3a1c |
T |
A |
11: 74,046,397 (GRCm39) |
M139K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,749 (GRCm39) |
E109G |
probably benign |
Het |
| Or4k45 |
C |
T |
2: 111,394,899 (GRCm39) |
A297T |
probably damaging |
Het |
| Paics |
T |
C |
5: 77,104,479 (GRCm39) |
S35P |
probably damaging |
Het |
| Pcnt |
A |
C |
10: 76,192,159 (GRCm39) |
Y2717* |
probably null |
Het |
| Plekho2 |
T |
A |
9: 65,465,957 (GRCm39) |
N144Y |
probably damaging |
Het |
| Plscr5 |
T |
C |
9: 92,080,565 (GRCm39) |
F17S |
possibly damaging |
Het |
| Prrc2a |
C |
T |
17: 35,380,023 (GRCm39) |
R192H |
unknown |
Het |
| Rbm27 |
T |
A |
18: 42,460,275 (GRCm39) |
M735K |
probably damaging |
Het |
| Rfc1 |
T |
A |
5: 65,436,804 (GRCm39) |
K625N |
probably damaging |
Het |
| Ric8b |
T |
A |
10: 84,783,611 (GRCm39) |
F156L |
probably benign |
Het |
| Romo1 |
C |
A |
2: 155,986,473 (GRCm39) |
A32E |
possibly damaging |
Het |
| Rpl26 |
T |
A |
11: 68,795,284 (GRCm39) |
Y135N |
probably damaging |
Het |
| Sacs |
T |
C |
14: 61,429,849 (GRCm39) |
V636A |
probably benign |
Het |
| Scyl2 |
A |
T |
10: 89,477,869 (GRCm39) |
I710N |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,903 (GRCm39) |
I154F |
probably damaging |
Het |
| Snx11 |
A |
G |
11: 96,661,535 (GRCm39) |
S157P |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,383 (GRCm39) |
Q517* |
probably null |
Het |
| Stard4 |
G |
T |
18: 33,336,678 (GRCm39) |
N212K |
probably damaging |
Het |
| Strn3 |
A |
G |
12: 51,676,168 (GRCm39) |
Y454H |
probably damaging |
Het |
| Stx17 |
A |
T |
4: 48,182,851 (GRCm39) |
|
probably benign |
Het |
| Tas2r121 |
G |
A |
6: 132,677,480 (GRCm39) |
T164I |
possibly damaging |
Het |
| Tbc1d8 |
T |
C |
1: 39,428,490 (GRCm39) |
Y485C |
probably damaging |
Het |
| Tmem45b |
T |
C |
9: 31,340,380 (GRCm39) |
M8V |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,948,501 (GRCm39) |
F844L |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,908,544 (GRCm39) |
N1054I |
probably benign |
Het |
| Xpa |
T |
A |
4: 46,185,659 (GRCm39) |
E106D |
probably benign |
Het |
| Zfp85 |
C |
T |
13: 67,896,974 (GRCm39) |
C366Y |
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 |
|
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'- GATTCTAGTCAGCTCCCAGC -3'
(R):5'- ATCTTGGCGTGACTCTCCTG -3'
Sequencing Primer
(F):5'- AGCTTCCTCCTCCGTGG -3'
(R):5'- ACCACATCCCAGGGTGAATGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation