Incidental Mutation 'R7368:Abcd4'
| ID |
571949 |
| 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 |
045452-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R7368 (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 T
at 84659639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 153
(F153I)
|
| 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: F153I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: F153I
| 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: F153I
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223107
AA Change: F149I
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
G |
A |
11: 7,094,765 (GRCm39) |
V564I |
probably damaging |
Het |
| Apol9b |
T |
C |
15: 77,620,134 (GRCm39) |
I310T |
possibly damaging |
Het |
| Arhgef28 |
C |
A |
13: 98,133,370 (GRCm39) |
V366F |
probably benign |
Het |
| B020004C17Rik |
C |
T |
14: 57,254,773 (GRCm39) |
T199I |
possibly damaging |
Het |
| Carmil2 |
C |
T |
8: 106,417,467 (GRCm39) |
T575I |
possibly damaging |
Het |
| Catsper1 |
A |
T |
19: 5,386,691 (GRCm39) |
Q308L |
unknown |
Het |
| Cpa2 |
T |
A |
6: 30,551,989 (GRCm39) |
S239T |
probably damaging |
Het |
| Cyrib |
A |
T |
15: 63,810,507 (GRCm39) |
|
probably null |
Het |
| Ddit3 |
G |
A |
10: 127,131,776 (GRCm39) |
G108D |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,628,239 (GRCm39) |
I1473V |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,445,131 (GRCm39) |
V1520A |
probably benign |
Het |
| Edc4 |
TAGTAGCAGCAGCAGTAGCAGCAGCAG |
TAGTAGCAGCAGCAG |
8: 106,615,037 (GRCm39) |
|
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,057,453 (GRCm39) |
I370F |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,134,457 (GRCm39) |
E272G |
possibly damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Fkbp11 |
T |
C |
15: 98,622,307 (GRCm39) |
K189E |
unknown |
Het |
| Frem1 |
T |
A |
4: 82,884,381 (GRCm39) |
E1190D |
probably benign |
Het |
| Gabrg2 |
A |
C |
11: 41,867,390 (GRCm39) |
Y76* |
probably null |
Het |
| Gm11437 |
T |
A |
11: 84,058,298 (GRCm39) |
|
probably benign |
Het |
| Gm8947 |
C |
A |
1: 151,068,847 (GRCm39) |
Q227K |
probably benign |
Het |
| Gm9195 |
A |
G |
14: 72,717,496 (GRCm39) |
F279S |
probably damaging |
Het |
| Gpbp1l1 |
T |
C |
4: 116,430,655 (GRCm39) |
I42T |
probably benign |
Het |
| Hdac5 |
A |
T |
11: 102,088,207 (GRCm39) |
V939E |
probably null |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Kitl |
A |
T |
10: 99,851,943 (GRCm39) |
I21F |
probably benign |
Het |
| Krt1 |
T |
C |
15: 101,755,307 (GRCm39) |
D484G |
probably damaging |
Het |
| Larp1 |
C |
A |
11: 57,938,904 (GRCm39) |
P527T |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,670,085 (GRCm39) |
V673A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Mmp27 |
G |
A |
9: 7,577,318 (GRCm39) |
V228M |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo15a |
G |
T |
11: 60,381,741 (GRCm39) |
|
probably null |
Het |
| Myt1 |
A |
G |
2: 181,424,384 (GRCm39) |
K26E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,741 (GRCm39) |
I777N |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,203,021 (GRCm39) |
R374* |
probably null |
Het |
| Nol8 |
T |
C |
13: 49,814,695 (GRCm39) |
S268P |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,107,968 (GRCm39) |
L1025Q |
probably damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,602 (GRCm39) |
S67P |
probably damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,325,078 (GRCm39) |
L140H |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,235,835 (GRCm39) |
N1382S |
probably benign |
Het |
| Pef1 |
T |
A |
4: 130,021,178 (GRCm39) |
L244* |
probably null |
Het |
| Phf11a |
T |
C |
14: 59,518,174 (GRCm39) |
E191G |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,517,144 (GRCm39) |
D702E |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,659,798 (GRCm39) |
G1285D |
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,221,993 (GRCm39) |
D566G |
probably damaging |
Het |
| Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
| Scgb1b12 |
T |
C |
7: 32,033,992 (GRCm39) |
I84T |
probably damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,067,685 (GRCm39) |
D618E |
possibly damaging |
Het |
| Slc35f5 |
T |
A |
1: 125,512,256 (GRCm39) |
V352E |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,430 (GRCm39) |
E410G |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
| Stra6 |
G |
A |
9: 58,058,543 (GRCm39) |
R468Q |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,921,188 (GRCm39) |
H924R |
unknown |
Het |
| Tbx18 |
C |
A |
9: 87,612,750 (GRCm39) |
V50L |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Unc45b |
C |
T |
11: 82,833,321 (GRCm39) |
T845I |
probably benign |
Het |
| Usp15 |
T |
C |
10: 123,032,798 (GRCm39) |
D8G |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,821,355 (GRCm39) |
D1288E |
probably benign |
Het |
| Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,437 (GRCm39) |
N201D |
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 |
|
|
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'- GTAAAGATGAGCCTCCCTTGG -3'
(R):5'- TCTGTGCAGAGCTGACTCAG -3'
Sequencing Primer
(F):5'- TTGGACCCTGACCTGCC -3'
(R):5'- AGAGCTGACTCAGGCCCTTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation