Mutagenetix > Incidental Mutation

Incidental Mutation 'R1770:Abcd4'

196508

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

039801-MU

Accession Numbers

Essential gene?

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

Stock #

R1770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84648634-84664259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84661874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

Ref Sequence

ENSEMBL: ENSMUSP00000152694 (fasta)

Gene Model

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

AlphaFold

O89016

Predicted Effect

probably benign
Transcript: ENSMUST00000021666
AA Change: T88A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021666
Gene: ENSMUSG00000021240
AA Change: T88A

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
AA Change: T84A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000222581
AA Change: T88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

unknown
Transcript: ENSMUST00000222889
AA Change: T56A

Predicted Effect

probably benign
Transcript: ENSMUST00000223107
AA Change: T84A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

92% (69/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	T	A	7: 139,453,947 (GRCm39)	Y161*	probably null	Het
Aldoart1	G	T	4: 72,770,173 (GRCm39)	H212N	probably benign	Het
Aldob	A	G	4: 49,536,861 (GRCm39)	Y343H	probably damaging	Het
Ankrd17	A	T	5: 90,391,235 (GRCm39)	V2036E	possibly damaging	Het
Ass1	A	G	2: 31,376,528 (GRCm39)	T131A	probably benign	Het
Baz1a	C	T	12: 54,945,293 (GRCm39)	R1354H	probably damaging	Het
C2cd2l	A	G	9: 44,228,108 (GRCm39)	V71A	probably benign	Het
C4b	T	A	17: 34,955,901 (GRCm39)	N678I	possibly damaging	Het
Carmil1	A	G	13: 24,357,657 (GRCm39)	L64P	probably damaging	Het
Cdh18	T	C	15: 23,474,487 (GRCm39)	S786P	probably benign	Het
Cep135	A	G	5: 76,751,042 (GRCm39)	E296G	possibly damaging	Het
Chml	G	A	1: 175,515,444 (GRCm39)	T159I	probably benign	Het
Cntn3	C	T	6: 102,246,166 (GRCm39)	E328K	possibly damaging	Het
Cstf1	A	G	2: 172,214,983 (GRCm39)	I35V	possibly damaging	Het
Cyp2c65	A	G	19: 39,070,642 (GRCm39)	K275R	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dbx2	T	C	15: 95,522,615 (GRCm39)	E364G	probably benign	Het
Dcaf13	A	T	15: 38,993,633 (GRCm39)	N242I	probably damaging	Het
Dcc	A	G	18: 71,579,470 (GRCm39)	V701A	probably benign	Het
Elapor2	A	T	5: 9,468,021 (GRCm39)	T230S	probably benign	Het
Fastkd5	A	T	2: 130,456,200 (GRCm39)	Y797N	probably damaging	Het
Fat4	T	A	3: 39,064,417 (GRCm39)	I4791K	probably damaging	Het
Gm3852	T	C	1: 46,051,048 (GRCm39)	I45V	possibly damaging	Het
Gng4	A	G	13: 13,999,851 (GRCm39)	D40G	probably damaging	Het
Gns	A	G	10: 121,213,952 (GRCm39)	D209G	probably benign	Het
Kif6	C	A	17: 50,210,677 (GRCm39)	Q791K	possibly damaging	Het
Klhl35	G	A	7: 99,123,082 (GRCm39)	V569M	possibly damaging	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lrrc8c	A	G	5: 105,754,603 (GRCm39)	Y126C	probably damaging	Het
Mad2l1bp	A	G	17: 46,463,838 (GRCm39)	V62A	probably benign	Het
Map1b	T	C	13: 99,567,001 (GRCm39)	R1907G	unknown	Het
Mertk	A	G	2: 128,592,094 (GRCm39)	I273V	probably benign	Het
Mfsd4b1	A	G	10: 39,879,223 (GRCm39)	Y225H	probably damaging	Het
Mrc2	T	C	11: 105,229,619 (GRCm39)	V684A	probably damaging	Het
Msh6	G	A	17: 88,287,651 (GRCm39)	W97*	probably null	Het
Mtmr10	A	G	7: 63,986,469 (GRCm39)	I516V	possibly damaging	Het
Myo7a	A	T	7: 97,761,813 (GRCm39)		probably benign	Het
Ndufs5	T	C	4: 123,606,661 (GRCm39)	Y92C	probably benign	Het
Nlrp1b	C	T	11: 71,050,979 (GRCm39)	V1035I	probably benign	Het
Ntrk2	A	G	13: 59,009,132 (GRCm39)	R308G	possibly damaging	Het
Or12e13	A	G	2: 87,663,643 (GRCm39)	I87V	probably benign	Het
Pcdhb16	G	T	18: 37,612,233 (GRCm39)	G398W	probably damaging	Het
Plpbp	T	A	8: 27,543,326 (GRCm39)	S237T	probably damaging	Het
Pnpla6	T	A	8: 3,584,634 (GRCm39)	F769I	possibly damaging	Het
Polk	A	G	13: 96,631,950 (GRCm39)	V261A	probably damaging	Het
Prss52	C	T	14: 64,351,082 (GRCm39)	A289V	probably damaging	Het
Puf60	T	C	15: 75,942,723 (GRCm39)	K407E	probably benign	Het
Pzp	T	C	6: 128,462,580 (GRCm39)	D1455G	probably damaging	Het
Ranbp17	T	C	11: 33,167,301 (GRCm39)	N1054S	probably benign	Het
Sdk2	A	G	11: 113,684,567 (GRCm39)	S1965P	probably benign	Het
Spryd7	T	C	14: 61,777,654 (GRCm39)	Y142C	probably damaging	Het
Srrt	A	T	5: 137,298,122 (GRCm39)		probably benign	Het
Stk10	A	G	11: 32,572,464 (GRCm39)	E935G	possibly damaging	Het
Tas2r115	G	A	6: 132,714,934 (GRCm39)	R6C	probably damaging	Het
Tdrd7	T	A	4: 45,987,681 (GRCm39)		probably benign	Het
Trim29	A	T	9: 43,243,673 (GRCm39)	Q564L	probably damaging	Het
Trim5	T	C	7: 103,925,868 (GRCm39)	D231G	probably damaging	Het
Trpv2	A	G	11: 62,487,787 (GRCm39)	K676E	probably benign	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a2	A	G	1: 88,129,160 (GRCm39)	I268V	probably benign	Het
Ugt8a	T	C	3: 125,667,852 (GRCm39)	N330D	probably benign	Het
Utrn	G	A	10: 12,351,040 (GRCm39)	H2822Y	probably damaging	Het
Vmn1r176	G	A	7: 23,534,946 (GRCm39)	A69V	probably benign	Het
Vmn2r106	T	C	17: 20,488,560 (GRCm39)	Y613C	probably damaging	Het
Wdfy1	A	T	1: 79,686,857 (GRCm39)	W296R	probably damaging	Het
Zfp11	G	A	5: 129,734,822 (GRCm39)	T213I	possibly damaging	Het
Zfp142	A	T	1: 74,618,790 (GRCm39)	F193I	probably damaging	Het
Zfp764	G	A	7: 127,004,739 (GRCm39)	Q131*	probably null	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
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'- GCTCTAATTCCCAGAAAGGGGCAG -3'
(R):5'- TGTCCAGAGGTTCGTGAGGATACAG -3'

Sequencing Primer
(F):5'- GGCAGAAAAAGACCCAGAGC -3'
(R):5'- CCTTCTTGGTCATCACAGAATG -3'

Posted On

2014-05-23