Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02548:Abcc6'

297941

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Synonyms

Mrp6, DCC, Dyscalc1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.792) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46005262 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 545 (A545V)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: A545V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: A545V

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: ENSMUST00000211780

Coding Region Coverage

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 55,872,867	L184*	probably null	Het
Ap1g1	C	T	8: 109,849,622	A432V	probably damaging	Het
Atrn	C	T	2: 130,972,282	T716I	probably damaging	Het
B020004J07Rik	T	A	4: 101,835,573	Y410F	probably damaging	Het
Bahd1	C	A	2: 118,917,045	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,455,525	V256A	probably benign	Het
Camta2	A	G	11: 70,670,685	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,650,122	T38K	probably benign	Het
Cmtm3	T	C	8: 104,344,805	L111P	probably damaging	Het
Col27a1	T	C	4: 63,318,255		probably benign	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Flt1	C	A	5: 147,639,248	R650L	probably benign	Het
Fpr1	T	A	17: 17,876,653	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,862,286	N42K	possibly damaging	Het
Gldc	T	C	19: 30,099,899	T958A	probably benign	Het
Gm3573	A	G	14: 42,187,495		probably null	Het
Hspbp1	T	C	7: 4,681,841		probably benign	Het
Jhy	G	T	9: 40,917,175	Y478*	probably null	Het
Kiz	A	G	2: 146,870,770	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,253,718	Y144C	probably benign	Het
Lamc3	A	T	2: 31,920,662	Y848F	probably benign	Het
Mixl1	T	C	1: 180,694,704	E204G	probably benign	Het
Muc2	T	A	7: 141,751,857	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,697,898	S282G	probably damaging	Het
Olfr1465	T	C	19: 13,313,938	M116V	probably damaging	Het
Olfr175-ps1	C	A	16: 58,824,328	C127F	probably benign	Het
Olfr531	T	A	7: 140,400,662	Y128F	probably damaging	Het
Orc2	A	T	1: 58,466,122		probably benign	Het
Pcdhb10	T	C	18: 37,412,690	I273T	probably benign	Het
Pdzph1	G	A	17: 58,973,391	T632I	probably benign	Het
Phf1	A	G	17: 26,935,626	Y225C	probably damaging	Het
Prcp	T	C	7: 92,901,174	F60L	probably damaging	Het
Psg21	C	T	7: 18,655,036	V44I	possibly damaging	Het
Ptgdr	C	T	14: 44,858,614	V214M	probably damaging	Het
Pth1r	G	A	9: 110,727,680	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,444,665	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,118	Q128*	probably null	Het
Rrbp1	T	C	2: 143,949,759		probably benign	Het
Skint5	T	A	4: 113,731,076	M726L	unknown	Het
Slc6a18	T	C	13: 73,669,995	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,204,156		probably benign	Het
Tacr3	C	A	3: 134,829,471	Q67K	probably damaging	Het
Tfrc	A	T	16: 32,624,822	K534*	probably null	Het
Timp3	T	A	10: 86,338,451	M67K	probably benign	Het
Tmem120a	C	T	5: 135,736,774	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,221,647		probably benign	Het
Tubal3	A	G	13: 3,930,554	R89G	probably benign	Het
Wdr35	A	T	12: 9,024,297	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,612,529	H628L	unknown	Het
Zmynd8	A	G	2: 165,833,405	V301A	probably damaging	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	46002672	splice site	probably benign
IGL01731:Abcc6	APN	7	46002610	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45996814	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45990281	splice site	probably benign
IGL01895:Abcc6	APN	7	46029058	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45986573	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45977416	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	46001061	missense	probably benign	0.00
IGL03063:Abcc6	APN	7	46016432	missense	probably benign
IGL03092:Abcc6	APN	7	45986470	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45982237	unclassified	probably benign
R0057:Abcc6	UTSW	7	46020143	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	46015505	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	46014107	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45985253	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	46016504	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	46005244	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45992357	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	46014169	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	46020134	splice site	probably null
R1909:Abcc6	UTSW	7	46020134	splice site	probably null
R2138:Abcc6	UTSW	7	45981051	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45998741	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	46015575	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45995289	missense	probably benign
R4013:Abcc6	UTSW	7	46018680	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45998832	splice site	probably benign
R4385:Abcc6	UTSW	7	45995328	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	46002607	missense	probably benign
R4479:Abcc6	UTSW	7	46005239	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	46005239	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45996691	missense	probably benign
R4791:Abcc6	UTSW	7	45982160	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45980990	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45989687	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45995225	missense	probably benign
R4941:Abcc6	UTSW	7	46012523	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	46020154	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45989646	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45981059	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45992311	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45982183	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45989536	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	46029044	missense	probably benign
R6228:Abcc6	UTSW	7	46030256	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45977379	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45981057	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	46005522	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	46018690	missense	probably benign
R7553:Abcc6	UTSW	7	45999121	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45995237	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45977392	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	46005606	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45976853	nonsense	probably null
R7896:Abcc6	UTSW	7	45977379	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45996665	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45980025	missense	probably damaging	1.00
X0065:Abcc6	UTSW	7	46020197	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45979734	missense	probably damaging	1.00
Z1176:Abcc6	UTSW	7	45992306	critical splice donor site	probably null

Posted On

2015-04-16