Mutagenetix > Incidental Mutation

Incidental Mutation 'R1595:Abcb6'

175700

Institutional Source

Beutler Lab

Gene Symbol

Abcb6

Ensembl Gene

ENSMUSG00000026198

Gene Name

ATP-binding cassette, sub-family B member 6

Synonyms

1200005B17Rik

MMRRC Submission

039632-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R1595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75148361-75157036 bp(-) (GRCm39)

Type of Mutation

splice site (3565 bp from exon)

DNA Base Change (assembly)

C to T at 75153944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q9DC29

Predicted Effect

probably benign
Transcript: ENSMUST00000027396

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198

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 null
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 null
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 null
Transcript: ENSMUST00000189820

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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.1%

Validation Efficiency

97% (77/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,633,164 (GRCm39)	P556H	probably damaging	Het
Abcc9	A	T	6: 142,578,821 (GRCm39)	D914E	probably benign	Het
Adgrf4	A	G	17: 42,978,764 (GRCm39)	V193A	probably benign	Het
Adm	A	T	7: 110,228,298 (GRCm39)	T160S	probably damaging	Het
Ammecr1l	T	C	18: 31,905,173 (GRCm39)		probably null	Het
Angpt2	T	C	8: 18,748,129 (GRCm39)	D377G	probably damaging	Het
Ankfn1	A	G	11: 89,313,593 (GRCm39)		probably null	Het
Arhgap30	T	G	1: 171,235,909 (GRCm39)	M761R	probably benign	Het
Asb4	T	G	6: 5,390,692 (GRCm39)	N28K	probably damaging	Het
Cd177	A	T	7: 24,444,389 (GRCm39)	D696E	probably benign	Het
Cd200	G	A	16: 45,215,214 (GRCm39)	T123I	probably benign	Het
Cfap70	A	G	14: 20,497,604 (GRCm39)	V50A	probably benign	Het
Chaf1b	T	C	16: 93,701,987 (GRCm39)		probably null	Het
Chgb	A	C	2: 132,635,657 (GRCm39)	D533A	probably benign	Het
Col12a1	A	G	9: 79,509,536 (GRCm39)	Y3041H	probably damaging	Het
Crot	T	C	5: 9,024,186 (GRCm39)	N337D	probably benign	Het
Csad	G	A	15: 102,086,217 (GRCm39)	A51V	probably damaging	Het
Cstdc7	T	C	18: 42,306,454 (GRCm39)	M7T	probably benign	Het
Cyp2b9	A	G	7: 25,900,332 (GRCm39)	Y380C	possibly damaging	Het
Dpysl2	G	T	14: 67,052,952 (GRCm39)	A299E	probably damaging	Het
Efcc1	A	G	6: 87,708,440 (GRCm39)	E189G	probably damaging	Het
Egfr	T	C	11: 16,856,847 (GRCm39)	I940T	probably damaging	Het
Etnk2	T	G	1: 133,300,917 (GRCm39)	L228R	possibly damaging	Het
Fitm2	A	G	2: 163,311,610 (GRCm39)	I201T	probably benign	Het
Foxo1	A	T	3: 52,253,375 (GRCm39)	M513L	probably benign	Het
Galnt16	A	T	12: 80,637,410 (GRCm39)	K379I	probably damaging	Het
Gm57858	C	T	3: 36,073,146 (GRCm39)	A379T	probably damaging	Het
Gtf2a1	T	A	12: 91,556,323 (GRCm39)	N6Y	probably damaging	Het
Kcnc1	G	A	7: 46,077,010 (GRCm39)	V271M	probably benign	Het
Klhdc8b	T	A	9: 108,328,362 (GRCm39)	D30V	probably damaging	Het
Lrrc7	G	A	3: 157,882,914 (GRCm39)	Q448*	probably null	Het
Med29	T	C	7: 28,091,928 (GRCm39)	D54G	probably damaging	Het
Mfn2	T	C	4: 147,979,153 (GRCm39)	T60A	probably benign	Het
Mroh1	T	C	15: 76,317,730 (GRCm39)		probably benign	Het
Mxd1	A	T	6: 86,628,453 (GRCm39)	V149E	possibly damaging	Het
Naip6	A	T	13: 100,435,602 (GRCm39)	Y974N	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nhsl1	G	T	10: 18,402,096 (GRCm39)	K1107N	probably damaging	Het
Nlrc3	T	C	16: 3,783,166 (GRCm39)	E81G	probably benign	Het
Or10al3	G	T	17: 38,012,004 (GRCm39)	A148S	probably benign	Het
Or9e1	G	T	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Osbpl5	C	T	7: 143,256,955 (GRCm39)	V392M	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,506 (GRCm39)	V401E	probably damaging	Het
Pcm1	T	A	8: 41,762,672 (GRCm39)	H1444Q	probably damaging	Het
Pdlim2	A	G	14: 70,402,193 (GRCm39)	Y308H	probably damaging	Het
Phf14	T	G	6: 11,988,752 (GRCm39)	L664R	possibly damaging	Het
Phkb	T	C	8: 86,753,182 (GRCm39)		probably benign	Het
Ptchd3	T	A	11: 121,721,420 (GRCm39)	F98I	probably damaging	Het
Ptprt	C	T	2: 161,652,469 (GRCm39)		probably null	Het
Rbp3	A	T	14: 33,678,155 (GRCm39)	H701L	possibly damaging	Het
Rgl1	T	C	1: 152,550,774 (GRCm39)		probably benign	Het
Satb1	A	T	17: 52,089,729 (GRCm39)	S373T	possibly damaging	Het
Scn3a	T	A	2: 65,329,323 (GRCm39)	Y769F	probably damaging	Het
Senp7	A	G	16: 56,005,131 (GRCm39)	I922V	probably damaging	Het
Serpina3g	A	G	12: 104,205,531 (GRCm39)	E90G	probably benign	Het
Sh3rf2	C	T	18: 42,244,353 (GRCm39)	T273I	probably damaging	Het
Slc15a3	A	G	19: 10,831,675 (GRCm39)	T350A	probably benign	Het
Socs5	T	C	17: 87,441,623 (GRCm39)	C188R	probably damaging	Het
Tacr1	A	G	6: 82,380,723 (GRCm39)	T45A	probably benign	Het
Th	A	G	7: 142,450,745 (GRCm39)	V117A	probably benign	Het
Thpo	C	A	16: 20,547,206 (GRCm39)	D81Y	probably damaging	Het
Tmem229b-ps	A	G	10: 53,351,385 (GRCm39)		noncoding transcript	Het
Trpc4	A	G	3: 54,223,236 (GRCm39)	E724G	probably benign	Het
Ttn	T	C	2: 76,576,977 (GRCm39)	T24639A	probably damaging	Het
Ulk4	A	G	9: 120,873,904 (GRCm39)	S1176P	probably damaging	Het
Urgcp	T	C	11: 5,667,447 (GRCm39)	D297G	probably damaging	Het
Vmn1r168	G	A	7: 23,240,620 (GRCm39)	G159D	probably damaging	Het
Vmn1r67	A	T	7: 10,181,597 (GRCm39)	N226I	probably benign	Het
Vmn2r27	T	C	6: 124,208,574 (GRCm39)	E57G	probably benign	Het
Zdhhc14	G	T	17: 5,543,831 (GRCm39)	R37L	probably benign	Het
Zfp512b	G	A	2: 181,230,229 (GRCm39)	T499I	probably damaging	Het
Zmym2	A	T	14: 57,158,187 (GRCm39)	K575N	probably benign	Het

Other mutations in Abcb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02836:Abcb6	APN	1	75,154,646 (GRCm39)	missense	probably damaging	0.96
1mM(1):Abcb6	UTSW	1	75,148,755 (GRCm39)	unclassified	probably benign
R0035:Abcb6	UTSW	1	75,151,651 (GRCm39)	missense	possibly damaging	0.74
R0699:Abcb6	UTSW	1	75,148,553 (GRCm39)	missense	probably damaging	0.98
R1470:Abcb6	UTSW	1	75,149,323 (GRCm39)	unclassified	probably benign
R1912:Abcb6	UTSW	1	75,156,599 (GRCm39)	missense	probably benign
R2078:Abcb6	UTSW	1	75,148,780 (GRCm39)	missense	probably damaging	1.00
R3105:Abcb6	UTSW	1	75,151,687 (GRCm39)	unclassified	probably benign
R4015:Abcb6	UTSW	1	75,151,135 (GRCm39)	splice site	probably null
R4604:Abcb6	UTSW	1	75,156,521 (GRCm39)	missense	probably benign
R4633:Abcb6	UTSW	1	75,154,426 (GRCm39)	unclassified	probably benign
R4748:Abcb6	UTSW	1	75,154,002 (GRCm39)	missense	probably damaging	1.00
R5530:Abcb6	UTSW	1	75,154,556 (GRCm39)	unclassified	probably benign
R5654:Abcb6	UTSW	1	75,151,479 (GRCm39)	splice site	probably null
R5841:Abcb6	UTSW	1	75,150,994 (GRCm39)	missense	possibly damaging	0.88
R6275:Abcb6	UTSW	1	75,149,195 (GRCm39)	splice site	probably null
R6527:Abcb6	UTSW	1	75,154,132 (GRCm39)	critical splice acceptor site	probably null
R7188:Abcb6	UTSW	1	75,150,781 (GRCm39)	critical splice donor site	probably null
R7278:Abcb6	UTSW	1	75,151,017 (GRCm39)	missense	possibly damaging	0.88
R7451:Abcb6	UTSW	1	75,148,797 (GRCm39)	missense	probably damaging	1.00
R7481:Abcb6	UTSW	1	75,150,248 (GRCm39)	missense	probably damaging	1.00
R7608:Abcb6	UTSW	1	75,154,347 (GRCm39)	missense	probably benign	0.01
R7640:Abcb6	UTSW	1	75,151,489 (GRCm39)	splice site	probably null
R7883:Abcb6	UTSW	1	75,154,660 (GRCm39)	missense	possibly damaging	0.81
R7982:Abcb6	UTSW	1	75,150,284 (GRCm39)	missense	probably damaging	1.00
R8057:Abcb6	UTSW	1	75,151,002 (GRCm39)	missense	probably damaging	0.99
R8058:Abcb6	UTSW	1	75,156,653 (GRCm39)	missense	possibly damaging	0.79
R8155:Abcb6	UTSW	1	75,151,413 (GRCm39)	missense	probably damaging	0.99
R8309:Abcb6	UTSW	1	75,149,588 (GRCm39)	missense	probably benign	0.43
R9087:Abcb6	UTSW	1	75,150,211 (GRCm39)	missense	probably damaging	1.00
R9599:Abcb6	UTSW	1	75,151,372 (GRCm39)	missense	possibly damaging	0.63
R9723:Abcb6	UTSW	1	75,156,366 (GRCm39)	missense	probably benign
X0009:Abcb6	UTSW	1	75,151,197 (GRCm39)	missense	probably benign	0.35
Z1177:Abcb6	UTSW	1	75,152,769 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTAAACCTGGCAGGAAAACTCTGG -3'
(R):5'- AGCAACCTGCGAACCTTCCTATG -3'

Sequencing Primer
(F):5'- tgtaggtgtgggagggg -3'
(R):5'- TCTCACCTGCATGAACTCTC -3'

Posted On

2014-04-24