Incidental Mutation 'R9555:Abcd4'
ID 720718
Institutional Source Beutler Lab
Gene Symbol Abcd4
Ensembl Gene ENSMUSG00000021240
Gene Name ATP-binding cassette, sub-family D member 4
Synonyms P69r, Pxmp1l
Accession Numbers
Essential gene? Probably non essential (E-score: 0.216) question?
Stock # R9555 (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 84661949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 63 (I63V)
Ref Sequence ENSEMBL: ENSMUSP00000021666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021666] [ENSMUST00000221070] [ENSMUST00000222581] [ENSMUST00000223107]
AlphaFold O89016
Predicted Effect probably benign
Transcript: ENSMUST00000021666
AA Change: I63V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: I63V

DomainStartEndE-ValueType
Pfam:ABC_membrane_2 14 294 5.4e-86 PFAM
AAA 413 604 2.05e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000221070
AA Change: I59V

PolyPhen 2 Score 0.492 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000222581
AA Change: I63V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000223107
AA Change: I59V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,947 (GRCm39) V259A probably benign Het
Agps C A 2: 75,683,091 (GRCm39) P139T probably damaging Het
B130006D01Rik A T 11: 95,616,956 (GRCm39) H27L unknown Het
BC024139 A G 15: 76,005,359 (GRCm39) V501A possibly damaging Het
Cacul1 A T 19: 60,533,887 (GRCm39) Y238* probably null Het
Cep55 T C 19: 38,059,592 (GRCm39) probably null Het
Csf1r T A 18: 61,243,473 (GRCm39) I163N possibly damaging Het
Ddx3y G T Y: 1,265,895 (GRCm39) D367E probably benign Het
Ecpas T A 4: 58,879,083 (GRCm39) I69L possibly damaging Het
Epb41l4a A G 18: 34,009,966 (GRCm39) V213A possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Klrb1a T C 6: 128,595,427 (GRCm39) E142G probably damaging Het
Lamb3 A T 1: 193,011,113 (GRCm39) I369F possibly damaging Het
Lig1 T C 7: 13,025,400 (GRCm39) V254A probably benign Het
Lrp1b T A 2: 40,741,693 (GRCm39) D3192V Het
Lrp1b T C 2: 40,748,438 (GRCm39) D3134G Het
Map1s T A 8: 71,367,236 (GRCm39) S714T probably benign Het
Marchf2 A G 17: 33,922,129 (GRCm39) L77P probably damaging Het
Nek8 A G 11: 78,067,390 (GRCm39) F15L probably benign Het
Or1s2 T A 19: 13,758,360 (GRCm39) I126N probably damaging Het
Pdzrn4 C T 15: 92,297,703 (GRCm39) R223C probably damaging Het
Per1 T A 11: 68,995,574 (GRCm39) V718D probably benign Het
Pik3ca A G 3: 32,505,916 (GRCm39) H676R probably damaging Het
Pla2g4e C A 2: 120,075,400 (GRCm39) probably benign Het
Proser1 A T 3: 53,378,876 (GRCm39) I103F possibly damaging Het
Pyroxd1 G A 6: 142,300,421 (GRCm39) A184T possibly damaging Het
Rin2 C T 2: 145,718,415 (GRCm39) Q632* probably null Het
Serpinb12 C T 1: 106,884,345 (GRCm39) H364Y probably damaging Het
Sfxn3 G A 19: 45,038,211 (GRCm39) E64K probably benign Het
Slc38a1 C T 15: 96,486,860 (GRCm39) V199M possibly damaging Het
Tep1 A G 14: 51,105,888 (GRCm39) I44T possibly damaging Het
Trip13 T A 13: 74,084,252 (GRCm39) T78S probably benign Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Usp28 A T 9: 48,952,736 (GRCm39) I1015F probably damaging Het
Vcan T C 13: 89,839,659 (GRCm39) T1962A Het
Vmn2r100 T A 17: 19,743,857 (GRCm39) S507T probably benign Het
Vmn2r91 C T 17: 18,325,792 (GRCm39) P137S possibly damaging Het
Zfp84 G T 7: 29,476,102 (GRCm39) V265F probably damaging Het
Other mutations in Abcd4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R9412:Abcd4 UTSW 12 84,655,581 (GRCm39) missense probably damaging 1.00
R9581:Abcd4 UTSW 12 84,650,762 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGGCTCTAATTCCCAGAAAGG -3'
(R):5'- TGTTCATGACGCTCTTGTGC -3'

Sequencing Primer
(F):5'- AAGACCCAGAGCTCGGTC -3'
(R):5'- TTGTGCGTGACCCTCCTGG -3'
Posted On 2022-08-09