Incidental Mutation 'R8469:Abcd4'
| ID |
656956 |
| 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 |
067913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R8469 (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 84659190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 189
(Y189H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[ENSMUST00000221070]
[ENSMUST00000222581]
[ENSMUST00000223107]
|
| AlphaFold |
O89016 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021666
AA Change: Y193H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: Y193H
| 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 damaging
Transcript: ENSMUST00000221070
AA Change: Y128H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222581
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223107
AA Change: Y189H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (41/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,852,797 (GRCm39) |
F113S |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,457 (GRCm39) |
D210G |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,844,029 (GRCm39) |
V774I |
probably benign |
Het |
| Anapc1 |
A |
T |
2: 128,500,264 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
T |
12: 105,604,170 (GRCm39) |
I1577N |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,978,834 (GRCm39) |
S827P |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,296,011 (GRCm39) |
C377S |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,090,083 (GRCm39) |
E112G |
possibly damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,711,340 (GRCm39) |
R496S |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,843,175 (GRCm39) |
R337Q |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,813,895 (GRCm39) |
F345S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,109 (GRCm39) |
R2844G |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,845,186 (GRCm39) |
I353L |
unknown |
Het |
| Fam78a |
A |
G |
2: 31,959,345 (GRCm39) |
V255A |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,210,074 (GRCm39) |
I1406L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,678,680 (GRCm39) |
F949S |
probably benign |
Het |
| Jmjd7 |
G |
A |
2: 119,860,643 (GRCm39) |
A57T |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,804 (GRCm39) |
T269A |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,767,065 (GRCm39) |
D364V |
probably damaging |
Het |
| Lrp12 |
T |
C |
15: 39,735,791 (GRCm39) |
T733A |
probably damaging |
Het |
| Marchf7 |
T |
A |
2: 60,064,670 (GRCm39) |
N315K |
probably benign |
Het |
| Methig1 |
A |
G |
15: 100,251,130 (GRCm39) |
I14V |
probably benign |
Het |
| Mtmr3 |
A |
T |
11: 4,481,223 (GRCm39) |
M1K |
probably null |
Het |
| Nras |
A |
G |
3: 102,966,217 (GRCm39) |
|
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,425,366 (GRCm39) |
T1508A |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,019,063 (GRCm39) |
T917A |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,090,347 (GRCm39) |
V21A |
possibly damaging |
Het |
| Pcdha5 |
T |
A |
18: 37,094,798 (GRCm39) |
W436R |
probably benign |
Het |
| Pde4d |
T |
C |
13: 108,996,722 (GRCm39) |
V8A |
probably benign |
Het |
| Pou4f3 |
C |
T |
18: 42,528,339 (GRCm39) |
T94M |
probably benign |
Het |
| Prdm6 |
G |
T |
18: 53,597,758 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,786,198 (GRCm39) |
R674G |
probably damaging |
Het |
| Rcc1 |
A |
G |
4: 132,061,445 (GRCm39) |
S368P |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,952,485 (GRCm39) |
V110E |
probably benign |
Het |
| Reep4 |
T |
A |
14: 70,783,180 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
T |
C |
2: 143,831,661 (GRCm39) |
I169V |
probably damaging |
Het |
| Slc2a6 |
T |
C |
2: 26,914,347 (GRCm39) |
S257G |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,982,627 (GRCm39) |
R612G |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,434 (GRCm39) |
T529A |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,851,219 (GRCm39) |
S458G |
probably benign |
Het |
| Zfp729a |
G |
T |
13: 67,769,481 (GRCm39) |
H249Q |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,544,572 (GRCm39) |
I445T |
possibly 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 |
|
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'- TCATTCACTCGAGAGGTGAGG -3'
(R):5'- TTAGCCAGGTGTCAGATGTCAC -3'
Sequencing Primer
(F):5'- TCCAGAGGCCTATGACGC -3'
(R):5'- GTGTCAGATGTCACTGTCACTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation