Incidental Mutation 'R9412:Abcd4'
| ID |
711871 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R9412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84648634-84664259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84655581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 343
(R343G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021666]
[ENSMUST00000221070]
[ENSMUST00000222581]
[ENSMUST00000223107]
|
| AlphaFold |
O89016 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021666
AA Change: R343G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: R343G
| 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 |
probably benign
Transcript: ENSMUST00000222581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222889
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223107
AA Change: R339G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
A |
8: 13,604,695 (GRCm39) |
T203S |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,235,457 (GRCm39) |
E1136K |
possibly damaging |
Het |
| Abca6 |
C |
A |
11: 110,103,059 (GRCm39) |
R844L |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,221,753 (GRCm39) |
R207Q |
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,855,564 (GRCm39) |
M1K |
probably null |
Het |
| Art3 |
A |
G |
5: 92,541,013 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,230 (GRCm39) |
M475T |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,940,201 (GRCm39) |
P992L |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,311,819 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,881 (GRCm39) |
T288A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,703 (GRCm39) |
D2433G |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Fmnl2 |
G |
T |
2: 53,007,016 (GRCm39) |
R776L |
unknown |
Het |
| Fndc1 |
T |
A |
17: 7,991,198 (GRCm39) |
T833S |
unknown |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,117,589 (GRCm39) |
Y711C |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,351 (GRCm39) |
K145E |
probably damaging |
Het |
| Kdm5a |
A |
G |
6: 120,365,991 (GRCm39) |
Y377C |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,409,287 (GRCm39) |
T1611S |
probably damaging |
Het |
| Lrrc28 |
T |
A |
7: 67,181,512 (GRCm39) |
E241V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,967,451 (GRCm39) |
Q596* |
probably null |
Het |
| Nrde2 |
C |
A |
12: 100,096,681 (GRCm39) |
E1040* |
probably null |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
T |
G |
8: 41,740,788 (GRCm39) |
N972K |
probably damaging |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,755,772 (GRCm39) |
T222A |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,732,779 (GRCm39) |
K556N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,662,288 (GRCm39) |
T936A |
probably benign |
Het |
| Scap |
T |
C |
9: 110,207,673 (GRCm39) |
C461R |
possibly damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,627 (GRCm39) |
L72* |
probably null |
Het |
| Serpinb6c |
C |
A |
13: 34,081,371 (GRCm39) |
A93S |
probably benign |
Het |
| Serpinb9c |
C |
A |
13: 33,334,231 (GRCm39) |
L298F |
probably damaging |
Het |
| Slf2 |
A |
T |
19: 44,930,460 (GRCm39) |
E512D |
probably benign |
Het |
| Snapc3 |
C |
T |
4: 83,354,570 (GRCm39) |
H194Y |
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tert |
C |
T |
13: 73,797,046 (GRCm39) |
R1095W |
probably benign |
Het |
| Tut4 |
A |
T |
4: 108,414,561 (GRCm39) |
H46L |
|
Het |
| Unc13c |
T |
C |
9: 73,839,772 (GRCm39) |
I360V |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,693,329 (GRCm39) |
C235R |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,991,484 (GRCm39) |
I626F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,954,213 (GRCm39) |
C792W |
probably damaging |
Het |
| Zfp57 |
C |
T |
17: 37,320,814 (GRCm39) |
P223S |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,135,946 (GRCm39) |
T102A |
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 |
|
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 |
|
|
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'- ACAGTCTTGTGATTTTCGGGAC -3'
(R):5'- TTGAGCCCCACAGAGCTTAG -3'
Sequencing Primer
(F):5'- ACATGTCCAGCAGGGCCTC -3'
(R):5'- TTAGCACCCTGGTCAGCAAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation