Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Abcd4'

553293

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 #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84648634-84664259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84653072 bp (GRCm39)

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]

AlphaFold

O89016

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: 148,026,295 (GRCm39)	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,540,078 (GRCm39)	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,668,048 (GRCm39)	M480L	probably benign	Het
Adam23	C	A	1: 63,584,736 (GRCm39)	D381E	probably damaging	Het
Angpt1	T	A	15: 42,539,747 (GRCm39)	Q37H	probably damaging	Het
Apeh	A	T	9: 107,969,345 (GRCm39)	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,888 (GRCm39)	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,542,717 (GRCm39)	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,322,675 (GRCm39)	S46G	unknown	Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865 (GRCm39)	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,461,063 (GRCm39)	V196E	possibly damaging	Het
Cma1	T	C	14: 56,181,273 (GRCm39)	H44R	probably damaging	Het
Cnot2	T	C	10: 116,330,924 (GRCm39)	N394S	probably benign	Het
Cplx3	A	T	9: 57,522,879 (GRCm39)	H160Q	probably benign	Het
Cstf3	A	T	2: 104,483,409 (GRCm39)	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 106,928,208 (GRCm39)	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,320 (GRCm39)	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,854,867 (GRCm39)	N36S	probably benign	Het
Dnah6	A	G	6: 73,112,663 (GRCm39)	V1647A	probably damaging	Het
Dock6	T	C	9: 21,712,572 (GRCm39)	Y2063C	probably damaging	Het
Dst	T	A	1: 34,338,888 (GRCm39)	D5149E	probably damaging	Het
Fancl	A	G	11: 26,353,358 (GRCm39)	M85V	probably benign	Het
Fgd2	T	A	17: 29,592,229 (GRCm39)	F387Y	probably damaging	Het
Fshr	A	T	17: 89,293,589 (GRCm39)	I363N	possibly damaging	Het
Glce	G	T	9: 61,977,716 (GRCm39)	S56*	probably null	Het
Gm26727	A	T	2: 67,263,381 (GRCm39)	S49T	unknown	Het
Gm36210	T	A	7: 4,902,277 (GRCm39)	D131V	probably damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
H2-Eb2	C	T	17: 34,553,395 (GRCm39)	R194W	probably benign	Het
Hivep1	A	T	13: 42,313,430 (GRCm39)	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Ighv2-5	T	A	12: 113,649,219 (GRCm39)	Y78F	probably benign	Het
Il9	C	T	13: 56,628,426 (GRCm39)	V88I	probably benign	Het
Kidins220	A	G	12: 25,044,820 (GRCm39)	T163A	probably damaging	Het
Lama4	G	T	10: 38,951,491 (GRCm39)	D1079Y	probably damaging	Het
Lrrc34	T	C	3: 30,679,036 (GRCm39)	I354V	probably benign	Het
Macroh2a2	T	A	10: 61,593,674 (GRCm39)	M1L	unknown	Het
Mpeg1	A	T	19: 12,439,078 (GRCm39)	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,076,337 (GRCm39)	L307H	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Nav3	C	A	10: 109,689,338 (GRCm39)	S313I	probably benign	Het
Nmt2	T	G	2: 3,285,352 (GRCm39)	S7A	probably benign	Het
Nsmce1	T	C	7: 125,068,254 (GRCm39)	S197G	probably benign	Het
Ociad2	A	G	5: 73,493,218 (GRCm39)	V4A	probably benign	Het
Or56a41	G	T	7: 104,742,005 (GRCm39)	T7K	probably benign	Het
Osmr	T	C	15: 6,850,569 (GRCm39)	D679G	possibly damaging	Het
Pappa	T	A	4: 65,107,687 (GRCm39)	F699L	probably benign	Het
Parp8	T	A	13: 117,161,802 (GRCm39)	M40L	probably benign	Het
Pcyox1	A	T	6: 86,371,519 (GRCm39)	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,840,737 (GRCm39)	S1224G		Het
Pkd1l3	T	A	8: 110,362,972 (GRCm39)	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,850,051 (GRCm39)	V155A	probably benign	Het
Rbm6	A	C	9: 107,730,410 (GRCm39)	D79E	probably damaging	Het
Sec31b	A	T	19: 44,507,375 (GRCm39)	S819T	probably benign	Het
Slc22a27	A	T	19: 7,903,912 (GRCm39)	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,005,905 (GRCm39)	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,342,278 (GRCm39)	S612P	probably benign	Het
Slc7a2	A	T	8: 41,368,050 (GRCm39)	I605F	probably benign	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Strbp	A	T	2: 37,514,514 (GRCm39)	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,497,835 (GRCm39)	Q155*	probably null	Het
Sybu	A	T	15: 44,541,110 (GRCm39)	N317K	possibly damaging	Het
Taok1	G	A	11: 77,462,459 (GRCm39)	S210F	probably damaging	Het
Tapbp	A	G	17: 34,139,022 (GRCm39)	D72G	possibly damaging	Het
Thbd	G	T	2: 148,248,461 (GRCm39)	T469K	probably benign	Het
Tia1	T	C	6: 86,404,670 (GRCm39)	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,758,520 (GRCm39)	F438L	probably benign	Het
Tmem235	C	T	11: 117,751,723 (GRCm39)	S49L	probably damaging	Het
Trip4	A	G	9: 65,792,503 (GRCm39)		probably benign	Het
Trrap	C	A	5: 144,739,988 (GRCm39)	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,404,674 (GRCm39)	E109G	probably benign	Het
Wdfy4	T	C	14: 32,873,535 (GRCm39)	Y258C		Het
Wdr91	T	G	6: 34,885,198 (GRCm39)	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,781,385 (GRCm39)	H459R	probably damaging	Het
Zfp936	T	A	7: 42,839,715 (GRCm39)	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,192,357 (GRCm39)	D423N	probably 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
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
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'- ATCAGCCAGCATCTGCACTG -3'
(R):5'- TGGGGTCCACTCTAACAACC -3'

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

Posted On

2019-05-15