Mutagenetix > Incidental Mutation

Incidental Mutation 'R2113:Abcd4'

232821

Institutional Source

Beutler Lab

Gene Symbol

Abcd4

Ensembl Gene

ENSMUSG00000021240

Gene Name

ATP-binding cassette, sub-family D member 4

Synonyms

P69r, Pxmp1l

MMRRC Submission

040117-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R2113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84648634-84664259 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 84655790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 295 (G295*)

Ref Sequence

ENSEMBL: ENSMUSP00000152694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021666] [ENSMUST00000221070] [ENSMUST00000222581] [ENSMUST00000223107]

AlphaFold

O89016

Predicted Effect

probably null
Transcript: ENSMUST00000021666
AA Change: G299*

SMART Domains

Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: G299*

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

noncoding transcript
Transcript: ENSMUST00000220553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220952

Predicted Effect

probably benign
Transcript: ENSMUST00000221070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221948

Predicted Effect

probably benign
Transcript: ENSMUST00000222581

Predicted Effect

probably null
Transcript: ENSMUST00000223107
AA Change: G295*

Predicted Effect

probably benign
Transcript: ENSMUST00000222889

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222942

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,128,525 (GRCm39)	Y129H	probably damaging	Het
Actn4	C	T	7: 28,597,549 (GRCm39)	G608D	probably benign	Het
Adcyap1r1	T	A	6: 55,458,100 (GRCm39)	N300K	probably damaging	Het
Adh5	A	G	3: 138,157,245 (GRCm39)	I269V	probably benign	Het
Afap1l2	G	A	19: 56,901,821 (GRCm39)	A842V	possibly damaging	Het
AI429214	A	T	8: 37,461,154 (GRCm39)	K101*	probably null	Het
Alg10b	T	A	15: 90,109,860 (GRCm39)	W58R	probably damaging	Het
Alpk2	C	T	18: 65,438,754 (GRCm39)	E1347K	probably benign	Het
Amotl2	G	T	9: 102,601,922 (GRCm39)	E389*	probably null	Het
Ap5m1	G	A	14: 49,323,705 (GRCm39)	R465Q	probably damaging	Het
Apoa1	A	C	9: 46,140,512 (GRCm39)	S48R	probably damaging	Het
Asb1	T	C	1: 91,471,950 (GRCm39)	L34P	probably damaging	Het
Atg14	C	T	14: 47,788,781 (GRCm39)	A191T	probably damaging	Het
Atp13a4	C	T	16: 29,260,102 (GRCm39)	V235I	possibly damaging	Het
Atrnl1	C	T	19: 57,744,048 (GRCm39)	Q1217*	probably null	Het
Bltp2	T	C	11: 78,159,598 (GRCm39)	V549A	probably benign	Het
Bsn	A	T	9: 107,992,085 (GRCm39)	H1222Q	probably benign	Het
Catsper4	A	T	4: 133,945,552 (GRCm39)	V169E	probably damaging	Het
Cbx4	C	T	11: 118,972,718 (GRCm39)	G219E	probably damaging	Het
Ccdc136	C	T	6: 29,413,031 (GRCm39)	T406I	possibly damaging	Het
Celsr3	A	T	9: 108,715,669 (GRCm39)	Y2117F	probably damaging	Het
Cenpf	T	A	1: 189,411,299 (GRCm39)	Q295L	probably damaging	Het
Ces1b	A	G	8: 93,794,783 (GRCm39)	V272A	probably benign	Het
Cgn	A	T	3: 94,687,116 (GRCm39)	V62D	probably damaging	Het
Ckap4	T	G	10: 84,369,387 (GRCm39)	Q115P	possibly damaging	Het
Clec10a	T	C	11: 70,060,650 (GRCm39)		probably null	Het
Clmn	A	T	12: 104,747,067 (GRCm39)	S827T	probably benign	Het
Cntn4	T	C	6: 106,466,658 (GRCm39)	S187P	probably damaging	Het
Cntnap5a	A	T	1: 116,116,095 (GRCm39)	I526F	probably damaging	Het
Cntnap5b	A	G	1: 100,202,140 (GRCm39)	Q329R	probably benign	Het
Col1a1	T	A	11: 94,839,188 (GRCm39)	S979T	unknown	Het
Crat	T	A	2: 30,292,654 (GRCm39)	Y606F	probably benign	Het
Cyp2c29	G	T	19: 39,318,708 (GRCm39)	C396F	probably damaging	Het
Cyp2d34	G	T	15: 82,501,817 (GRCm39)	P231Q	probably damaging	Het
Ddi2	A	T	4: 141,430,591 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,679,473 (GRCm39)	H501Q	probably damaging	Het
Dnah12	A	G	14: 26,488,098 (GRCm39)	I1001V	probably damaging	Het
Dnase2a	T	A	8: 85,637,500 (GRCm39)	C301S	probably damaging	Het
Dock10	T	A	1: 80,584,280 (GRCm39)	D142V	probably damaging	Het
Dpp8	G	A	9: 64,971,150 (GRCm39)	C590Y	probably benign	Het
Dst	T	A	1: 34,314,317 (GRCm39)	M6707K	probably damaging	Het
Duox1	T	C	2: 122,167,735 (GRCm39)	V1006A	probably benign	Het
Dync1h1	T	C	12: 110,596,420 (GRCm39)	S1623P	probably damaging	Het
Ehmt1	A	T	2: 24,694,015 (GRCm39)	D1011E	probably damaging	Het
Epc2	T	A	2: 49,422,235 (GRCm39)	D376E	probably benign	Het
Eps8	C	A	6: 137,514,633 (GRCm39)		probably null	Het
F11	T	C	8: 45,699,869 (GRCm39)	T406A	probably benign	Het
Fat3	T	G	9: 15,911,082 (GRCm39)	D1640A	probably damaging	Het
Fbxo15	A	T	18: 84,977,230 (GRCm39)	R47S	probably benign	Het
Fbxo28	A	T	1: 182,157,490 (GRCm39)	V109E	probably damaging	Het
Fn1	A	T	1: 71,665,323 (GRCm39)	S931R	probably damaging	Het
Fndc3b	T	C	3: 27,697,185 (GRCm39)	D9G	probably damaging	Het
Frem2	G	A	3: 53,560,343 (GRCm39)	T1388I	probably damaging	Het
Fstl3	C	A	10: 79,617,012 (GRCm39)	T185N	probably damaging	Het
Glo1	A	T	17: 30,823,014 (GRCm39)	Y49*	probably null	Het
Gtsf2	T	C	15: 103,348,100 (GRCm39)	M137V	probably benign	Het
Gzmk	C	T	13: 113,310,489 (GRCm39)	G110S	probably benign	Het
Hdac9	G	T	12: 34,439,331 (GRCm39)	S428R	probably damaging	Het
Hnrnpul1	G	A	7: 25,432,694 (GRCm39)	T456I	possibly damaging	Het
Ino80	T	A	2: 119,284,565 (GRCm39)	H172L	probably damaging	Het
Itgb8	A	C	12: 119,154,347 (GRCm39)	L230R	probably damaging	Het
Klf9	C	T	19: 23,142,052 (GRCm39)	R171W	probably damaging	Het
Kmt2b	G	T	7: 30,282,812 (GRCm39)	P1050Q	probably damaging	Het
Krt15	A	T	11: 100,026,484 (GRCm39)	F67L	unknown	Het
Maml3	T	A	3: 51,598,077 (GRCm39)	Y223F	probably damaging	Het
Mcm9	C	T	10: 53,491,943 (GRCm39)		probably null	Het
Mettl3	A	G	14: 52,532,441 (GRCm39)	*104Q	probably null	Het
Msrb3	T	A	10: 120,687,985 (GRCm39)	D30V	possibly damaging	Het
Mycbp2	T	C	14: 103,457,512 (GRCm39)	T1562A	probably damaging	Het
Nat14	T	C	7: 4,927,038 (GRCm39)	V70A	possibly damaging	Het
Nbeal2	T	C	9: 110,454,474 (GRCm39)	T2685A	probably damaging	Het
Nek1	A	G	8: 61,469,327 (GRCm39)	D128G	probably damaging	Het
Nfam1	T	A	15: 82,899,202 (GRCm39)	K155*	probably null	Het
Noc4l	A	T	5: 110,798,425 (GRCm39)	M255K	possibly damaging	Het
Nolc1	GCA	GCAACA	19: 46,069,800 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGGAG	19: 46,069,798 (GRCm39)		probably benign	Het
Nprl2	T	C	9: 107,422,511 (GRCm39)	S334P	probably benign	Het
Nsrp1	A	G	11: 76,937,396 (GRCm39)	S267P	probably benign	Het
Ntn4	A	T	10: 93,480,701 (GRCm39)	M142L	probably damaging	Het
Nup188	T	A	2: 30,194,113 (GRCm39)	C139*	probably null	Het
Nup210l	A	T	3: 90,098,281 (GRCm39)	N1411I	possibly damaging	Het
Or10g1	A	G	14: 52,647,753 (GRCm39)	L192P	probably damaging	Het
Or5ak24	T	G	2: 85,260,430 (GRCm39)	T248P	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Pcnx3	G	T	19: 5,721,584 (GRCm39)	D1071E	possibly damaging	Het
Pi4k2a	T	A	19: 42,103,510 (GRCm39)	I340N	possibly damaging	Het
Pkdrej	T	A	15: 85,703,185 (GRCm39)	D917V	probably damaging	Het
Plekhg4	T	A	8: 106,106,066 (GRCm39)	F821Y	probably damaging	Het
Ptgfrn	C	T	3: 100,984,625 (GRCm39)	R189H	probably benign	Het
Ptpn18	T	A	1: 34,510,742 (GRCm39)	S235R	probably damaging	Het
Rabep2	A	G	7: 126,044,460 (GRCm39)		probably null	Het
Rbp3	T	G	14: 33,678,014 (GRCm39)	I654S	probably benign	Het
Rimbp3	T	C	16: 17,027,539 (GRCm39)	L321P	probably benign	Het
Rims2	T	A	15: 39,374,722 (GRCm39)	M1028K	probably benign	Het
Ruvbl1	T	A	6: 88,460,003 (GRCm39)	V221D	probably damaging	Het
Ruvbl2	A	T	7: 45,073,527 (GRCm39)		probably null	Het
Scn7a	C	T	2: 66,506,312 (GRCm39)	D1526N	probably damaging	Het
Scnn1a	T	C	6: 125,314,774 (GRCm39)	F218S	possibly damaging	Het
Sh3tc2	T	A	18: 62,146,176 (GRCm39)	M1185K	probably damaging	Het
Slain1	C	A	14: 103,888,282 (GRCm39)	D67E	possibly damaging	Het
Snx33	T	C	9: 56,833,724 (GRCm39)	D115G	probably benign	Het
Sowaha	G	A	11: 53,369,789 (GRCm39)	R316C	probably damaging	Het
Spata17	A	T	1: 186,830,108 (GRCm39)	F309I	possibly damaging	Het
Spmip7	G	A	11: 11,440,293 (GRCm39)		probably null	Het
Ssrp1	G	T	2: 84,873,350 (GRCm39)		probably null	Het
St6gal1	C	G	16: 23,147,167 (GRCm39)	T225S	probably damaging	Het
Sulf1	C	G	1: 12,918,398 (GRCm39)	F38L	probably damaging	Het
Tbc1d7	G	A	13: 43,306,562 (GRCm39)	T138M	probably damaging	Het
Tdpoz4	T	A	3: 93,704,351 (GRCm39)	M216K	probably damaging	Het
Tmem200a	A	G	10: 25,869,220 (GRCm39)	S350P	probably damaging	Het
Tnpo3	A	T	6: 29,551,871 (GRCm39)	D903E	probably benign	Het
Trpc4ap	A	T	2: 155,499,856 (GRCm39)	I222N	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttn	A	G	2: 76,542,954 (GRCm39)	V33344A	possibly damaging	Het
Uchl4	A	T	9: 64,142,818 (GRCm39)	T100S	probably damaging	Het
Uxs1	A	G	1: 43,810,933 (GRCm39)	Y97H	probably damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vmn2r88	T	C	14: 51,655,651 (GRCm39)	L621P	probably damaging	Het
Vps45	A	T	3: 95,954,365 (GRCm39)	M174K	probably benign	Het
Wdr72	A	T	9: 74,052,454 (GRCm39)	M162L	probably benign	Het
Wdr81	T	A	11: 75,344,461 (GRCm39)	M269L	probably benign	Het
Zfp53	A	G	17: 21,728,713 (GRCm39)	T249A	probably benign	Het
Zfp758	T	C	17: 22,580,626 (GRCm39)	S22P	probably benign	Het
Zfp780b	T	C	7: 27,663,298 (GRCm39)	D419G	possibly damaging	Het
Zfp934	A	T	13: 62,666,507 (GRCm39)	Y45N	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
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
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'- GTGTGTAACCGGCAACATCC -3'
(R):5'- TGCAGATCTGGAGGAAGCTTG -3'

Sequencing Primer
(F):5'- CAACATCCGAGAGTGTGGTG -3'
(R):5'- ATCTGGAGGAAGCTTGCCCTTAC -3'

Posted On

2014-09-18