Mutagenetix > Incidental Mutation

Incidental Mutation 'R0144:Abcd4'

22524

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

038429-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

R0144 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

84648634-84664259 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 84652739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152694 (fasta)

Gene Model

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

AlphaFold

O89016

Predicted Effect

probably null
Transcript: ENSMUST00000021666

SMART Domains

Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240

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 null
Transcript: ENSMUST00000021666

SMART Domains

Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240

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

noncoding transcript
Transcript: ENSMUST00000221948

Predicted Effect

probably benign
Transcript: ENSMUST00000222581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222942

Predicted Effect

probably null
Transcript: ENSMUST00000223107

Predicted Effect

probably null
Transcript: ENSMUST00000223107

Meta Mutation Damage Score

0.9508

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.0%

Validation Efficiency

100% (90/90)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,073,145 (GRCm39)		probably benign	Het
AI661453	A	T	17: 47,780,224 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,109,233 (GRCm39)	I674V	probably benign	Het
Armc2	A	T	10: 41,823,883 (GRCm39)		probably benign	Het
Atp8b1	G	C	18: 64,704,445 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,737,839 (GRCm39)	N1823K	probably damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Brca1	A	T	11: 101,416,947 (GRCm39)	S396T	probably damaging	Het
Btnl6	G	T	17: 34,732,994 (GRCm39)	R290S	probably benign	Het
Casp8ap2	A	G	4: 32,643,797 (GRCm39)	R957G	possibly damaging	Het
Ccdc13	A	G	9: 121,656,417 (GRCm39)	L132P	probably damaging	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Ceacam15	G	T	7: 16,407,116 (GRCm39)	H134N	probably benign	Het
Cep170	T	C	1: 176,620,161 (GRCm39)	I46V	probably benign	Het
Cfap57	T	C	4: 118,441,902 (GRCm39)	D722G	probably damaging	Het
Col11a1	A	T	3: 113,907,243 (GRCm39)	D628V	unknown	Het
Csmd1	A	T	8: 16,441,838 (GRCm39)	V342E	probably benign	Het
Dennd1a	A	G	2: 38,016,652 (GRCm39)	V64A	probably damaging	Het
Dlec1	G	T	9: 118,971,934 (GRCm39)	G1345V	probably benign	Het
Dnah1	G	A	14: 30,989,831 (GRCm39)		probably benign	Het
Dock5	C	T	14: 68,023,735 (GRCm39)	G1142D	probably benign	Het
Etv2	C	A	7: 30,334,308 (GRCm39)	A142S	probably benign	Het
Fam110c	C	A	12: 31,124,500 (GRCm39)	T154K	unknown	Het
Fbxo17	C	G	7: 28,434,765 (GRCm39)	D183E	probably damaging	Het
Fbxo30	T	A	10: 11,170,964 (GRCm39)	W681R	probably damaging	Het
Fig4	A	G	10: 41,134,045 (GRCm39)	Y413H	probably damaging	Het
Gab1	A	G	8: 81,511,830 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,510,411 (GRCm39)	M1T	probably null	Het
H2-M10.6	G	A	17: 37,123,133 (GRCm39)	C22Y	probably damaging	Het
Igfn1	T	C	1: 135,889,751 (GRCm39)	D2432G	probably damaging	Het
Il13	T	C	11: 53,524,003 (GRCm39)	D60G	possibly damaging	Het
Iqgap1	A	G	7: 80,401,668 (GRCm39)	L479P	probably damaging	Het
Itpr2	T	A	6: 146,228,653 (GRCm39)	Q1314L	probably damaging	Het
Jrk	C	T	15: 74,578,005 (GRCm39)	G427S	probably benign	Het
Kcnb1	T	G	2: 166,946,467 (GRCm39)	N794H	probably damaging	Het
Klhl8	A	T	5: 104,015,804 (GRCm39)	S361R	probably benign	Het
Krt87	T	C	15: 101,336,542 (GRCm39)	Y37C	probably benign	Het
Lbp	A	T	2: 158,161,630 (GRCm39)	S231C	probably damaging	Het
Lpin2	A	G	17: 71,532,071 (GRCm39)	E142G	probably damaging	Het
Lrch4	G	A	5: 137,636,805 (GRCm39)		probably null	Het
Lypd11	A	G	7: 24,423,015 (GRCm39)	V101A	possibly damaging	Het
Manea	A	G	4: 26,340,719 (GRCm39)	M81T	probably benign	Het
Mcm3ap	A	G	10: 76,316,849 (GRCm39)	T618A	probably benign	Het
Me3	A	G	7: 89,389,080 (GRCm39)	D128G	probably damaging	Het
Mix23	A	T	16: 35,905,484 (GRCm39)	N92I	possibly damaging	Het
Mug2	A	G	6: 122,047,970 (GRCm39)		probably benign	Het
Myo9b	A	T	8: 71,798,687 (GRCm39)	Q901L	probably damaging	Het
Nalcn	T	C	14: 123,608,948 (GRCm39)	R640G	probably damaging	Het
Nalcn	C	T	14: 123,647,251 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,283,421 (GRCm39)	N422S	probably damaging	Het
Nf1	T	A	11: 79,437,953 (GRCm39)	Y88N	probably damaging	Het
Nrxn3	G	A	12: 89,315,162 (GRCm39)	A358T	probably damaging	Het
Or52s1	A	T	7: 102,861,747 (GRCm39)	I216F	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5p62	T	C	7: 107,771,178 (GRCm39)	I258V	probably benign	Het
Phlpp2	C	T	8: 110,634,145 (GRCm39)	R242W	probably damaging	Het
Pld5	T	C	1: 175,798,107 (GRCm39)	N431D	probably benign	Het
Prss28	G	A	17: 25,528,424 (GRCm39)	V16M	probably damaging	Het
Psmd2	T	A	16: 20,480,975 (GRCm39)		probably null	Het
Ptpn21	A	T	12: 98,654,868 (GRCm39)	S700T	probably benign	Het
Rasa2	A	T	9: 96,474,072 (GRCm39)	V152D	probably damaging	Het
Reln	G	T	5: 22,153,447 (GRCm39)	R2286S	probably damaging	Het
Rflnb	G	T	11: 75,915,789 (GRCm39)	P102Q	probably damaging	Het
Rin2	G	A	2: 145,718,559 (GRCm39)	V680I	probably damaging	Het
Rnf213	A	T	11: 119,370,426 (GRCm39)	K4742*	probably null	Het
Rpp40	A	T	13: 36,085,352 (GRCm39)	S143T	probably benign	Het
Rps12	A	G	10: 23,662,689 (GRCm39)	I51T	probably benign	Het
Rsf1	T	A	7: 97,285,614 (GRCm39)	W109R	probably damaging	Het
Sipa1l2	C	T	8: 126,176,615 (GRCm39)		probably null	Het
Tspan5	G	T	3: 138,604,109 (GRCm39)	V165L	probably damaging	Het
Uts2r	T	A	11: 121,052,291 (GRCm39)	V385E	probably benign	Het
Vma21-ps	T	A	4: 52,497,231 (GRCm39)	D5V	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,440 (GRCm39)	N132I	probably damaging	Het
Zfp622	T	C	15: 25,991,665 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,655,671 (GRCm39)	K766R	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
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
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'- TGGGTTCGGCCCATAAATAATGCAC -3'
(R):5'- TCTGCTCATCACAGGCAACACG -3'

Sequencing Primer
(F):5'- AATTCCCAGGCATGGGTG -3'
(R):5'- ACTGGCAAGACCTCCCTG -3'

Posted On

2013-04-16