Incidental Mutation 'R3713:Abcd4'
ID259766
Institutional Source Beutler Lab
Gene Symbol Abcd4
Ensembl Gene ENSMUSG00000021240
Gene NameATP-binding cassette, sub-family D (ALD), member 4
SynonymsPxmp1l, P69r
MMRRC Submission 040706-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #R3713 (G1)
Quality Score210
Status Validated
Chromosome12
Chromosomal Location84601464-84617413 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84611759 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 223 (M223I)
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: M227I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: M227I

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 probably benign
Transcript: ENSMUST00000222889
Predicted Effect probably benign
Transcript: ENSMUST00000223107
AA Change: M223I

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.5424 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (67/67)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T C 16: 88,627,193 M137V probably benign Het
Aak1 T A 6: 86,955,190 I381N probably benign Het
Adgrf2 A G 17: 42,713,088 V164A probably damaging Het
Ahdc1 G A 4: 133,065,986 A1513T possibly damaging Het
Akap13 T C 7: 75,586,181 M168T probably damaging Het
Aox1 C T 1: 58,056,215 T196I probably benign Het
Aqr A G 2: 114,118,669 probably benign Het
Astn1 A G 1: 158,667,532 E1042G possibly damaging Het
Azi2 A G 9: 118,047,440 D8G possibly damaging Het
Bcam T C 7: 19,764,193 T302A probably benign Het
Cct6b A T 11: 82,760,357 I110N probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Ceacam5 G A 7: 17,759,338 S762N possibly damaging Het
Cecr2 T C 6: 120,758,260 L819P probably damaging Het
Cers3 G T 7: 66,786,075 A261S probably benign Het
Chd2 A G 7: 73,471,790 probably benign Het
Col7a1 G T 9: 108,964,440 G1357* probably null Het
Cux1 A G 5: 136,565,543 probably benign Het
Cwh43 A T 5: 73,438,492 I535F probably damaging Het
Dexi A T 16: 10,542,689 M1K probably null Het
Dnah12 T C 14: 26,812,790 V2081A probably benign Het
Efcab5 A T 11: 77,116,182 L872Q probably damaging Het
Enpp7 A G 11: 118,990,518 Y163C probably damaging Het
Fam221a T C 6: 49,372,614 Y38H probably damaging Het
Foxred1 A G 9: 35,210,890 M1T probably null Het
Fscn3 C T 6: 28,428,092 T26I possibly damaging Het
Galp A T 7: 6,213,837 D72V probably damaging Het
Gm9843 A G 16: 76,403,531 noncoding transcript Het
Grm7 G T 6: 110,646,348 V161F probably damaging Het
Lmbrd1 T C 1: 24,692,995 Y98H probably damaging Het
Lrrc63 T G 14: 75,107,336 Y437S probably benign Het
Macc1 A G 12: 119,446,841 E448G probably benign Het
Madcam1 A G 10: 79,668,360 H404R probably benign Het
Mink1 G T 11: 70,608,950 R773L possibly damaging Het
Mroh2b A G 15: 4,943,649 I1045V probably benign Het
Mroh3 T C 1: 136,185,976 T692A probably benign Het
Myo15 A T 11: 60,479,231 E939V possibly damaging Het
Naip2 A G 13: 100,161,902 F542S probably damaging Het
Napsa A G 7: 44,581,428 Y73C probably damaging Het
Ndst4 A T 3: 125,561,505 H354L possibly damaging Het
Neil1 A T 9: 57,146,970 V22E probably damaging Het
Nol4 T C 18: 23,039,937 I36V probably damaging Het
Nprl3 G A 11: 32,255,464 T111I probably damaging Het
Olfr1184 C A 2: 88,487,443 T237N probably damaging Het
Olfr361 A G 2: 37,085,505 M81T possibly damaging Het
Olfr385 A T 11: 73,588,905 Y278N probably damaging Het
Pald1 G A 10: 61,342,365 T624I possibly damaging Het
Pcdhb13 C T 18: 37,443,733 P388L probably damaging Het
Pcdhga6 T C 18: 37,707,923 V232A probably damaging Het
Pde6b A G 5: 108,423,062 I388V probably damaging Het
Phactr2 C A 10: 13,388,732 probably benign Het
Prdx5 T C 19: 6,908,109 D56G probably damaging Het
Ptprh A T 7: 4,571,970 I350N probably damaging Het
Rangap1 C A 15: 81,710,460 E389D probably benign Het
Reln A G 5: 21,904,734 V3126A probably damaging Het
Rpl21 G A 5: 146,835,037 G59S possibly damaging Het
Rsph6a G A 7: 19,057,550 V215M probably damaging Het
Smcp T C 3: 92,584,124 K139E unknown Het
Stag1 A G 9: 100,889,618 T699A probably benign Het
Tarsl2 G A 7: 65,688,952 probably null Het
Tle1 G T 4: 72,126,422 H459Q possibly damaging Het
Ttn G A 2: 76,731,019 P27302S probably damaging Het
Ttn C T 2: 76,741,266 V26428I probably damaging Het
Usp53 T C 3: 122,949,319 E656G probably benign Het
Vmn1r218 A T 13: 23,136,911 N63Y probably damaging Het
Vmn1r79 A G 7: 12,176,212 N40S possibly damaging Het
Wdr35 A G 12: 9,027,648 D1107G possibly damaging Het
Zfp101 A G 17: 33,381,906 M292T probably benign Het
Zfp108 T A 7: 24,261,845 C620* probably null Het
Zscan4b T C 7: 10,901,891 T170A probably benign Het
Other mutations in Abcd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02075:Abcd4 APN 12 84608804 critical splice donor site probably null
IGL02103:Abcd4 APN 12 84612364 missense probably benign 0.00
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
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
R7368:Abcd4 UTSW 12 84612865 missense possibly damaging 0.56
R7374:Abcd4 UTSW 12 84606243 nonsense probably null
R7601:Abcd4 UTSW 12 84613945 missense possibly damaging 0.93
R7663:Abcd4 UTSW 12 84606129 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGTCCCCATACCTAAGG -3'
(R):5'- AGGTCCCATAGTCAAGCCTAC -3'

Sequencing Primer
(F):5'- GTCCCCATACCTAAGGACAGGG -3'
(R):5'- CTGAGGTCAGCACTGTTAGTACAG -3'
Posted On2015-01-23