Mutagenetix > Incidental Mutation

Incidental Mutation 'R4362:Abcc6'

324949

Institutional Source

Beutler Lab

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C member 6

Synonyms

DCC, Mrp6, Dyscalc1

MMRRC Submission

041671-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R4362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45625804-45679915 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 45648256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002850]

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
transmembrane domain	81	100	N/A	INTRINSIC
transmembrane domain	110	129	N/A	INTRINSIC
transmembrane domain	142	161	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC
Pfam:ABC_membrane	309	580	3.5e-29	PFAM
AAA	653	828	1.19e-9	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:ABC_membrane	942	1211	2.5e-32	PFAM
AAA	1286	1473	1.71e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134200
AA Change: F124L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211780

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: The 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 MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	C	T	7: 28,947,687 (GRCm39)		probably benign	Het
Adamts13	G	A	2: 26,894,794 (GRCm39)	C1034Y	probably damaging	Het
Atp2b4	G	T	1: 133,667,669 (GRCm39)	P125Q	possibly damaging	Het
Atp8b1	C	T	18: 64,697,608 (GRCm39)	R412H	probably damaging	Het
Bicc1	ATGTG	ATG	10: 70,779,204 (GRCm39)		probably null	Het
Cap1	G	A	4: 122,756,780 (GRCm39)	P302S	probably benign	Het
Chodl	G	T	16: 78,741,546 (GRCm39)		probably null	Het
Cplane1	T	A	15: 8,300,229 (GRCm39)	S3179T	unknown	Het
Cplx2	A	T	13: 54,526,630 (GRCm39)	T13S	probably benign	Het
Dennd5a	G	A	7: 109,495,550 (GRCm39)	R1194W	probably damaging	Het
Dsc2	T	A	18: 20,183,214 (GRCm39)	D68V	probably damaging	Het
Dus4l	A	C	12: 31,698,827 (GRCm39)	I59R	probably damaging	Het
Edc3	C	T	9: 57,620,829 (GRCm39)	P50L	probably damaging	Het
Ext1	G	A	15: 52,970,987 (GRCm39)		probably benign	Het
Fam219a	C	T	4: 41,518,844 (GRCm39)		probably benign	Het
Fbxl3	A	T	14: 103,329,749 (GRCm39)	D106E	probably damaging	Het
Garem1	T	C	18: 21,369,172 (GRCm39)	N50D	possibly damaging	Het
Gins1	G	A	2: 150,751,682 (GRCm39)	R15H	probably damaging	Het
Glrx2	A	G	1: 143,617,418 (GRCm39)	K44R	possibly damaging	Het
Icam1	A	G	9: 20,937,608 (GRCm39)	D215G	possibly damaging	Het
Nedd9	A	T	13: 41,471,429 (GRCm39)	I184N	probably damaging	Het
Or10a2	T	C	7: 106,673,799 (GRCm39)	S255P	probably damaging	Het
Or1e21	T	C	11: 73,344,391 (GRCm39)	M216V	probably benign	Het
Otulinl	C	T	15: 27,664,429 (GRCm39)		probably null	Het
Rhot2	A	G	17: 26,061,065 (GRCm39)	C147R	probably damaging	Het
Saxo4	T	C	19: 10,452,385 (GRCm39)	Y375C	probably damaging	Het
Setd4	T	C	16: 93,380,574 (GRCm39)		probably null	Het
Slc6a4	A	G	11: 76,907,904 (GRCm39)	N356S	probably damaging	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tmem168	A	C	6: 13,595,072 (GRCm39)	I381S	probably benign	Het
Tnfrsf11b	T	A	15: 54,119,555 (GRCm39)	T140S	possibly damaging	Het
Ttpa	G	T	4: 20,023,827 (GRCm39)	E130*	probably null	Het
Ubr5	A	G	15: 38,078,647 (GRCm39)	V8A	probably damaging	Het
Vmn2r18	C	T	5: 151,496,368 (GRCm39)	C450Y	probably damaging	Het
Vmn2r32	A	T	7: 7,482,857 (GRCm39)	L39*	probably null	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	45,652,096 (GRCm39)	splice site	probably benign
IGL01731:Abcc6	APN	7	45,652,034 (GRCm39)	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45,646,238 (GRCm39)	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45,639,705 (GRCm39)	splice site	probably benign
IGL01895:Abcc6	APN	7	45,678,482 (GRCm39)	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45,635,997 (GRCm39)	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45,626,840 (GRCm39)	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	45,650,485 (GRCm39)	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	45,654,686 (GRCm39)	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	45,665,856 (GRCm39)	missense	probably benign
IGL03092:Abcc6	APN	7	45,635,894 (GRCm39)	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45,631,661 (GRCm39)	unclassified	probably benign
R0057:Abcc6	UTSW	7	45,669,567 (GRCm39)	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	45,664,929 (GRCm39)	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	45,663,531 (GRCm39)	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45,634,677 (GRCm39)	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	45,665,928 (GRCm39)	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	45,654,668 (GRCm39)	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45,641,781 (GRCm39)	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	45,663,593 (GRCm39)	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	45,669,558 (GRCm39)	splice site	probably null
R1909:Abcc6	UTSW	7	45,669,558 (GRCm39)	splice site	probably null
R2138:Abcc6	UTSW	7	45,630,475 (GRCm39)	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45,648,165 (GRCm39)	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	45,664,999 (GRCm39)	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45,644,713 (GRCm39)	missense	probably benign
R4013:Abcc6	UTSW	7	45,668,104 (GRCm39)	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4385:Abcc6	UTSW	7	45,644,752 (GRCm39)	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	45,652,031 (GRCm39)	missense	probably benign
R4479:Abcc6	UTSW	7	45,654,663 (GRCm39)	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	45,654,663 (GRCm39)	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45,646,115 (GRCm39)	missense	probably benign
R4791:Abcc6	UTSW	7	45,631,584 (GRCm39)	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45,630,414 (GRCm39)	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45,639,111 (GRCm39)	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45,644,649 (GRCm39)	missense	probably benign
R4941:Abcc6	UTSW	7	45,661,947 (GRCm39)	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	45,669,578 (GRCm39)	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45,639,070 (GRCm39)	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45,630,483 (GRCm39)	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45,641,735 (GRCm39)	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45,631,607 (GRCm39)	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45,638,960 (GRCm39)	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	45,678,468 (GRCm39)	missense	probably benign
R6228:Abcc6	UTSW	7	45,679,680 (GRCm39)	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45,626,803 (GRCm39)	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45,630,481 (GRCm39)	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	45,654,946 (GRCm39)	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	45,668,114 (GRCm39)	missense	probably benign
R7553:Abcc6	UTSW	7	45,648,545 (GRCm39)	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45,644,661 (GRCm39)	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45,626,816 (GRCm39)	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	45,655,030 (GRCm39)	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45,626,277 (GRCm39)	nonsense	probably null
R7896:Abcc6	UTSW	7	45,626,803 (GRCm39)	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45,646,089 (GRCm39)	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45,629,449 (GRCm39)	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45,634,569 (GRCm39)	missense	probably benign
R8784:Abcc6	UTSW	7	45,652,025 (GRCm39)	missense	probably benign
R8802:Abcc6	UTSW	7	45,658,283 (GRCm39)	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45,648,431 (GRCm39)	missense	possibly damaging	0.67
R9006:Abcc6	UTSW	7	45,665,820 (GRCm39)	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45,629,184 (GRCm39)	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	45,665,892 (GRCm39)	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45,629,197 (GRCm39)	missense	probably damaging	1.00
R9535:Abcc6	UTSW	7	45,626,687 (GRCm39)	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45,639,765 (GRCm39)	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45,629,359 (GRCm39)	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	45,669,660 (GRCm39)	nonsense	probably null
X0065:Abcc6	UTSW	7	45,669,621 (GRCm39)	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45,641,730 (GRCm39)	critical splice donor site	probably null
Z1176:Abcc6	UTSW	7	45,629,158 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATAAGATCCCAGGGTCTCC -3'
(R):5'- AGAAGGGTCTGTGAGCATTG -3'

Sequencing Primer
(F):5'- TAAGATCCCAGGGTCTCCTCACC -3'
(R):5'- ATTGAGGTAAGACCGTCCCCATTC -3'

Posted On

2015-07-06