Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Abcb6'

357251

Institutional Source

Beutler Lab

Gene Symbol

Abcb6

Ensembl Gene

ENSMUSG00000026198

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 6

Synonyms

1200005B17Rik

MMRRC Submission

042030-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R4748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75171717-75180392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75177358 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 367 (G367W)

Ref Sequence

ENSEMBL: ENSMUSP00000027396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027396] [ENSMUST00000040689] [ENSMUST00000161215] [ENSMUST00000188347] [ENSMUST00000189665] [ENSMUST00000189702]

AlphaFold

Q9DC29

Predicted Effect

probably damaging
Transcript: ENSMUST00000027396
AA Change: G367W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198
AA Change: G367W

Domain	Start	End	E-Value	Type
Pfam:MTABC_N	6	255	7.8e-80	PFAM
Pfam:ABC_membrane	265	544	3.7e-34	PFAM
AAA	615	816	1.29e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040689

SMART Domains

Protein: ENSMUSP00000047449
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	173	530	3.4e-134	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161103

Predicted Effect

probably benign
Transcript: ENSMUST00000161215

SMART Domains

Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198

Domain	Start	End	E-Value	Type
SCOP:d1jj7a_	5	78	8e-23	SMART
Blast:AAA	23	71	9e-25	BLAST
PDB:3NHB\|A	23	94	3e-36	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185727

Predicted Effect

probably benign
Transcript: ENSMUST00000188347

SMART Domains

Protein: ENSMUSP00000139731
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	172	533	2.4e-140	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189665

SMART Domains

Protein: ENSMUSP00000140012
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189702

SMART Domains

Protein: ENSMUSP00000139641
Gene: ENSMUSG00000033124

Domain	Start	End	E-Value	Type
transmembrane domain	70	92	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
Pfam:APG9	172	533	2.4e-140	PFAM
low complexity region	588	599	N/A	INTRINSIC
low complexity region	607	621	N/A	INTRINSIC
Blast:HELICc	692	733	1e-13	BLAST
low complexity region	734	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189820

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial lethality, impaired stress erythropoiesis, and absence of ATP-dependent transport of Coproporphyrin III in mitochondria. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,856,656 (GRCm38)	E54D	possibly damaging	Het
Asprv1	A	G	6: 86,628,423 (GRCm38)	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,701,507 (GRCm38)	V291A	probably damaging	Het
B4galnt4	T	C	7: 141,071,720 (GRCm38)	F980L	probably damaging	Het
Bpi	G	A	2: 158,272,021 (GRCm38)	V280I	possibly damaging	Het
Bptf	T	C	11: 107,095,880 (GRCm38)	D581G	probably damaging	Het
Cap2	T	A	13: 46,639,826 (GRCm38)	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 77,057,980 (GRCm38)	I480M	possibly damaging	Het
Ccn4	C	A	15: 66,906,640 (GRCm38)	Y103*	probably null	Het
Ccnh	T	A	13: 85,189,639 (GRCm38)	V35E	probably benign	Het
Cd6	G	T	19: 10,794,225 (GRCm38)	S433*	probably null	Het
Ceacam10	A	C	7: 24,781,052 (GRCm38)	I83L	probably benign	Het
Chek2	T	C	5: 110,855,839 (GRCm38)		probably null	Het
Chia1	A	T	3: 106,122,449 (GRCm38)	D73V	probably damaging	Het
Commd2	G	A	3: 57,646,794 (GRCm38)	T162I	probably benign	Het
Creb3l3	C	T	10: 81,086,047 (GRCm38)	A316T	probably benign	Het
Cul4a	A	G	8: 13,123,526 (GRCm38)	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,016,737 (GRCm38)		probably null	Het
D630045J12Rik	T	C	6: 38,196,841 (GRCm38)	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,550,236 (GRCm38)	K295N	probably damaging	Het
Dnah1	A	G	14: 31,319,945 (GRCm38)	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048 (GRCm38)	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,642,651 (GRCm38)	D275G	probably damaging	Het
Enam	C	A	5: 88,501,543 (GRCm38)	P304T	probably damaging	Het
Enpep	A	G	3: 129,332,163 (GRCm38)	Y107H	probably damaging	Het
Exd2	T	C	12: 80,480,576 (GRCm38)	L27P	probably damaging	Het
Fam135b	T	A	15: 71,464,055 (GRCm38)	D430V	probably benign	Het
Fam222b	C	T	11: 78,154,603 (GRCm38)	T202I	possibly damaging	Het
Fmod	T	A	1: 134,041,174 (GRCm38)	N317K	probably damaging	Het
Frem2	A	G	3: 53,541,093 (GRCm38)	F2301L	probably damaging	Het
Frem3	T	C	8: 80,611,459 (GRCm38)	F127S	probably damaging	Het
Gbp7	A	G	3: 142,538,087 (GRCm38)	S132G	probably benign	Het
Gm4787	A	G	12: 81,378,056 (GRCm38)	C443R	probably damaging	Het
Grik2	T	C	10: 49,535,341 (GRCm38)	M5V	possibly damaging	Het
Helb	T	C	10: 120,084,849 (GRCm38)	D1063G	probably benign	Het
Kirrel1	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Krt90	G	A	15: 101,555,333 (GRCm38)	L429F	probably damaging	Het
Lrr1	C	A	12: 69,174,462 (GRCm38)	T126K	probably benign	Het
Mgat4e	C	A	1: 134,542,028 (GRCm38)	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,840,781 (GRCm38)	S343R	possibly damaging	Het
Mms19	T	A	19: 41,944,558 (GRCm38)	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,411,650 (GRCm38)	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,473,056 (GRCm38)	L408Q	probably damaging	Het
Oit3	A	T	10: 59,424,082 (GRCm38)	C500S	probably damaging	Het
Or11g1	T	G	14: 50,413,876 (GRCm38)	L111V	possibly damaging	Het
Or13c3	A	G	4: 52,856,076 (GRCm38)	S146P	possibly damaging	Het
Or4a39	C	T	2: 89,406,255 (GRCm38)	V275I	probably benign	Het
Or5d36	T	A	2: 88,070,612 (GRCm38)	I257L	probably benign	Het
Otud7a	T	C	7: 63,735,915 (GRCm38)	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,774,269 (GRCm38)	K196*	probably null	Het
Paqr8	T	A	1: 20,935,413 (GRCm38)	C264S	probably benign	Het
Pgm2	T	A	4: 99,981,979 (GRCm38)	F459Y	probably benign	Het
Phip	C	A	9: 82,908,869 (GRCm38)	V675L	probably benign	Het
Pnma1	T	G	12: 84,147,723 (GRCm38)	T69P	probably benign	Het
Ppp1r14bl	T	C	1: 23,101,870 (GRCm38)	E121G	probably damaging	Het
Ptpn12	A	T	5: 21,005,385 (GRCm38)	C242*	probably null	Het
Rabep1	T	A	11: 70,908,468 (GRCm38)	V306E	probably benign	Het
Ros1	C	T	10: 52,115,997 (GRCm38)	D1377N	probably benign	Het
Ryr3	T	C	2: 112,964,405 (GRCm38)	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,420,421 (GRCm38)	Q421*	probably null	Het
Shcbp1	G	A	8: 4,744,512 (GRCm38)	T427M	probably damaging	Het
Shprh	G	A	10: 11,170,476 (GRCm38)	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,925,876 (GRCm38)	C163Y	probably benign	Het
Slc27a1	C	T	8: 71,580,809 (GRCm38)	T310M	possibly damaging	Het
Slc27a1	A	G	8: 71,580,675 (GRCm38)	D287G	probably damaging	Het
Slc29a3	A	G	10: 60,716,326 (GRCm38)	V313A	probably benign	Het
Slc35f2	A	T	9: 53,771,785 (GRCm38)	M1L	probably benign	Het
Sltm	G	C	9: 70,581,365 (GRCm38)	R599T	probably damaging	Het
Spic	T	A	10: 88,675,890 (GRCm38)	Q168L	probably damaging	Het
Spink6	G	A	18: 44,082,361 (GRCm38)		probably null	Het
Stac2	T	C	11: 98,041,372 (GRCm38)	E235G	possibly damaging	Het
Szt2	G	A	4: 118,389,191 (GRCm38)	Q957*	probably null	Het
Them7	A	T	2: 105,378,646 (GRCm38)	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,271,716 (GRCm38)	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,236,890 (GRCm38)	E178G	probably benign	Het
Tomm40l	G	A	1: 171,219,562 (GRCm38)	R296*	probably null	Het
Trim80	C	A	11: 115,448,138 (GRCm38)	T598N	possibly damaging	Het
Trim9	T	C	12: 70,248,273 (GRCm38)	N688D	probably damaging	Het
Vil1	C	T	1: 74,421,266 (GRCm38)	A194V	probably damaging	Het
Vmn2r61	A	T	7: 42,267,141 (GRCm38)	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,928,120 (GRCm38)	M331I	probably benign	Het
Vps33b	G	T	7: 80,290,048 (GRCm38)	A516S	probably damaging	Het
Zc3h6	G	A	2: 129,002,240 (GRCm38)	G235R	probably damaging	Het
Zfp612	T	A	8: 110,088,672 (GRCm38)	D170E	probably benign	Het
Zfp746	A	G	6: 48,064,556 (GRCm38)	I412T	probably benign	Het

Other mutations in Abcb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02836:Abcb6	APN	1	75,178,002 (GRCm38)	missense	probably damaging	0.96
1mM(1):Abcb6	UTSW	1	75,172,111 (GRCm38)	unclassified	probably benign
R0035:Abcb6	UTSW	1	75,175,007 (GRCm38)	missense	possibly damaging	0.74
R0699:Abcb6	UTSW	1	75,171,909 (GRCm38)	missense	probably damaging	0.98
R1470:Abcb6	UTSW	1	75,172,679 (GRCm38)	unclassified	probably benign
R1595:Abcb6	UTSW	1	75,177,300 (GRCm38)	splice site	probably null
R1912:Abcb6	UTSW	1	75,179,955 (GRCm38)	missense	probably benign
R2078:Abcb6	UTSW	1	75,172,136 (GRCm38)	missense	probably damaging	1.00
R3105:Abcb6	UTSW	1	75,175,043 (GRCm38)	unclassified	probably benign
R4015:Abcb6	UTSW	1	75,174,491 (GRCm38)	splice site	probably null
R4604:Abcb6	UTSW	1	75,179,877 (GRCm38)	missense	probably benign
R4633:Abcb6	UTSW	1	75,177,782 (GRCm38)	unclassified	probably benign
R5530:Abcb6	UTSW	1	75,177,912 (GRCm38)	unclassified	probably benign
R5654:Abcb6	UTSW	1	75,174,835 (GRCm38)	splice site	probably null
R5841:Abcb6	UTSW	1	75,174,350 (GRCm38)	missense	possibly damaging	0.88
R6275:Abcb6	UTSW	1	75,172,551 (GRCm38)	splice site	probably null
R6527:Abcb6	UTSW	1	75,177,488 (GRCm38)	critical splice acceptor site	probably null
R7188:Abcb6	UTSW	1	75,174,137 (GRCm38)	critical splice donor site	probably null
R7278:Abcb6	UTSW	1	75,174,373 (GRCm38)	missense	possibly damaging	0.88
R7451:Abcb6	UTSW	1	75,172,153 (GRCm38)	missense	probably damaging	1.00
R7481:Abcb6	UTSW	1	75,173,604 (GRCm38)	missense	probably damaging	1.00
R7608:Abcb6	UTSW	1	75,177,703 (GRCm38)	missense	probably benign	0.01
R7640:Abcb6	UTSW	1	75,174,845 (GRCm38)	splice site	probably null
R7883:Abcb6	UTSW	1	75,178,016 (GRCm38)	missense	possibly damaging	0.81
R7982:Abcb6	UTSW	1	75,173,640 (GRCm38)	missense	probably damaging	1.00
R8057:Abcb6	UTSW	1	75,174,358 (GRCm38)	missense	probably damaging	0.99
R8058:Abcb6	UTSW	1	75,180,009 (GRCm38)	missense	possibly damaging	0.79
R8155:Abcb6	UTSW	1	75,174,769 (GRCm38)	missense	probably damaging	0.99
R8309:Abcb6	UTSW	1	75,172,944 (GRCm38)	missense	probably benign	0.43
R9087:Abcb6	UTSW	1	75,173,567 (GRCm38)	missense	probably damaging	1.00
R9599:Abcb6	UTSW	1	75,174,728 (GRCm38)	missense	possibly damaging	0.63
R9723:Abcb6	UTSW	1	75,179,722 (GRCm38)	missense	probably benign
X0009:Abcb6	UTSW	1	75,174,553 (GRCm38)	missense	probably benign	0.35
Z1177:Abcb6	UTSW	1	75,176,125 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCAAGAGAGGCTAAAACTCATATG -3'
(R):5'- TTTGGGTGCTTAGACCTCTAGC -3'

Sequencing Primer
(F):5'- GTAGCTGTTTGCCAAAAAGACC -3'
(R):5'- TTAGACCTCTAGCATCCGGGTG -3'

Posted On

2015-11-11