Mutagenetix > Incidental Mutations

Incidental Mutation 'R7139:Abcd4'

553293

Institutional Source

Beutler Lab

Gene Symbol

Abcd4

Ensembl Gene

ENSMUSG00000021240

Gene Name

ATP-binding cassette, sub-family D (ALD), member 4

Synonyms

Pxmp1l, P69r

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84601464-84617413 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84606298 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 377 (C377R)

Ref Sequence

ENSEMBL: ENSMUSP00000021666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021666] [ENSMUST00000222581] [ENSMUST00000223107]

Predicted Effect

probably benign
Transcript: ENSMUST00000021666
AA Change: C377R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: C377R

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: ENSMUST00000222581

Predicted Effect

probably benign
Transcript: ENSMUST00000223107
AA Change: C373R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,941,838	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,590,078	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,850,184	M480L	probably benign	Het
Adam23	C	A	1: 63,545,577	D381E	probably damaging	Het
Angpt1	T	A	15: 42,676,351	Q37H	probably damaging	Het
Apeh	A	T	9: 108,092,146	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,889	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,666,721	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,415,359	S46G	unknown	Het
Cfc1	T	C	1: 34,536,479	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,755,302	V196E	possibly damaging	Het
Cma1	T	C	14: 55,943,816	H44R	probably damaging	Het
Cnot2	T	C	10: 116,495,019	N394S	probably benign	Het
Cstf3	A	T	2: 104,653,064	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 107,071,011	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,613,976	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,617,427	N36S	probably benign	Het
Dnah6	A	G	6: 73,135,680	V1647A	probably damaging	Het
Dock6	T	C	9: 21,801,276	Y2063C	probably damaging	Het
Dst	T	A	1: 34,299,807	D5149E	probably damaging	Het
Fancl	A	G	11: 26,403,358	M85V	probably benign	Het
Fgd2	T	A	17: 29,373,255	F387Y	probably damaging	Het
Fshr	A	T	17: 88,986,161	I363N	possibly damaging	Het
Glce	G	T	9: 62,070,434	S56*	probably null	Het
Gm26727	A	T	2: 67,433,037	S49T	unknown	Het
Gm36210	T	A	7: 4,899,278	D131V	probably damaging	Het
Gm5089	T	C	14: 122,435,991	D106G	unknown	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
H2afy2	T	A	10: 61,757,895	M1L	unknown	Het
H2-Eb2	C	T	17: 34,334,421	R194W	probably benign	Het
Hivep1	A	T	13: 42,159,954	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,158,821	C5*	probably null	Het
Ighv2-5	T	A	12: 113,685,599	Y78F	probably benign	Het
Il9	C	T	13: 56,480,613	V88I	probably benign	Het
Kidins220	A	G	12: 24,994,821	T163A	probably damaging	Het
Lama4	G	T	10: 39,075,495	D1079Y	probably damaging	Het
Lman1l	A	T	9: 57,615,596	H160Q	probably benign	Het
Lrrc34	T	C	3: 30,624,887	I354V	probably benign	Het
Mpeg1	A	T	19: 12,461,714	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,426,589	L307H	probably damaging	Het
Mst1	G	A	9: 108,082,828	R328H	probably damaging	Het
Nav3	C	A	10: 109,853,477	S313I	probably benign	Het
Nmt2	T	G	2: 3,284,315	S7A	probably benign	Het
Nsmce1	T	C	7: 125,469,082	S197G	probably benign	Het
Ociad2	A	G	5: 73,335,875	V4A	probably benign	Het
Olfr680-ps1	G	T	7: 105,092,798	T7K	probably benign	Het
Osmr	T	C	15: 6,821,088	D679G	possibly damaging	Het
Pappa	T	A	4: 65,189,450	F699L	probably benign	Het
Parp8	T	A	13: 117,025,266	M40L	probably benign	Het
Pcyox1	A	T	6: 86,394,537	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,890,737	S1224G		Het
Pkd1l3	T	A	8: 109,636,340	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,631,077	V155A	probably benign	Het
Rbm6	A	C	9: 107,853,211	D79E	probably damaging	Het
Sec31b	A	T	19: 44,518,936	S819T	probably benign	Het
Slc22a27	A	T	19: 7,926,547	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,098,589	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,365,319	S612P	probably benign	Het
Slc7a2	A	T	8: 40,915,013	I605F	probably benign	Het
Slit2	A	G	5: 48,244,683	T805A	probably benign	Het
Strbp	A	T	2: 37,624,502	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,607,009	Q155*	probably null	Het
Sybu	A	T	15: 44,677,714	N317K	possibly damaging	Het
Taok1	G	A	11: 77,571,633	S210F	probably damaging	Het
Tapbp	A	G	17: 33,920,048	D72G	possibly damaging	Het
Thbd	G	T	2: 148,406,541	T469K	probably benign	Het
Tia1	T	C	6: 86,427,688	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,840,283	F438L	probably benign	Het
Tmem235	C	T	11: 117,860,897	S49L	probably damaging	Het
Trip4	A	G	9: 65,885,221		probably benign	Het
Trrap	C	A	5: 144,803,178	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,513,848	E109G	probably benign	Het
Wdfy4	T	C	14: 33,151,578	Y258C		Het
Wdr91	T	G	6: 34,908,263	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,890,559	H459R	probably damaging	Het
Zfp936	T	A	7: 43,190,291	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,281,059	D423N	probably damaging	Het

Other mutations in Abcd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ATCAGCCAGCATCTGCACTG -3'
(R):5'- TGGGGTCCACTCTAACAACC -3'

Sequencing Primer
(F):5'- AGGGCTGGCTCACCTTTCATG -3'
(R):5'- GTCCACTCTAACAACCTCATTTTAAC -3'

Posted On

2019-05-15