Incidental Mutation 'IGL02103:Abcd4'
ID279826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcd4
Ensembl Gene ENSMUSG00000021240
Gene NameATP-binding cassette, sub-family D (ALD), member 4
SynonymsPxmp1l, P69r
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.179) question?
Stock #IGL02103
Quality Score
Status
Chromosome12
Chromosomal Location84601464-84617413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 84612364 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 206 (T206M)
Ref Sequence ENSEMBL: ENSMUSP00000152694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021666] [ENSMUST00000221070] [ENSMUST00000222581] [ENSMUST00000223107]
Predicted Effect probably benign
Transcript: ENSMUST00000021666
AA Change: T210M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: T210M

DomainStartEndE-ValueType
Pfam:ABC_membrane_2 14 294 5.4e-86 PFAM
AAA 413 604 2.05e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220678
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220952
Predicted Effect probably benign
Transcript: ENSMUST00000221070
Predicted Effect probably benign
Transcript: ENSMUST00000222581
Predicted Effect silent
Transcript: ENSMUST00000222889
Predicted Effect probably benign
Transcript: ENSMUST00000223107
AA Change: T206M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Stom A T 2: 35,320,389 V201E probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Abcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02075:Abcd4 APN 12 84608804 critical splice donor site probably null
IGL02892:Abcd4 APN 12 84604997 nonsense probably null
R0112:Abcd4 UTSW 12 84612899 splice site probably benign
R0128:Abcd4 UTSW 12 84612352 missense possibly damaging 0.89
R0144:Abcd4 UTSW 12 84605965 critical splice acceptor site probably null
R0866:Abcd4 UTSW 12 84611733 missense probably damaging 1.00
R0942:Abcd4 UTSW 12 84612828 missense probably damaging 0.96
R1770:Abcd4 UTSW 12 84615100 missense probably benign 0.08
R1796:Abcd4 UTSW 12 84615382 missense probably benign 0.09
R2113:Abcd4 UTSW 12 84609016 nonsense probably null
R3713:Abcd4 UTSW 12 84611759 missense probably benign 0.43
R3714:Abcd4 UTSW 12 84611759 missense probably benign 0.43
R3715:Abcd4 UTSW 12 84611759 missense probably benign 0.43
R5308:Abcd4 UTSW 12 84603293 critical splice donor site probably null
R5572:Abcd4 UTSW 12 84606276 missense probably benign 0.04
R5632:Abcd4 UTSW 12 84617302 missense probably benign 0.00
R5695:Abcd4 UTSW 12 84613971 missense probably damaging 1.00
R6111:Abcd4 UTSW 12 84615114 missense probably damaging 1.00
R6538:Abcd4 UTSW 12 84611761 missense probably benign 0.12
R7035:Abcd4 UTSW 12 84615349 missense probably damaging 1.00
R7139:Abcd4 UTSW 12 84606298 missense probably benign
Posted On2015-04-16