Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01743:Abcc6'

152941

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: 0.784) question?

Stock #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45996814 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 750 (N750K)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: N750K

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: N750K

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	G	T	8: 3,364,697	C25F	probably benign	Het
Ackr2	T	C	9: 121,909,500	C314R	probably benign	Het
Adar	C	T	3: 89,745,440	Q210*	probably null	Het
Aifm1	A	G	X: 48,480,276		probably benign	Het
Aldoa	G	T	7: 126,796,703	D198E	probably damaging	Het
Ampd1	T	A	3: 103,094,885		probably benign	Het
Btnl1	T	C	17: 34,385,685	I480T	probably damaging	Het
Capn9	T	C	8: 124,591,769	S125P	probably benign	Het
Cd40lg	T	A	X: 57,212,232	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,309,823		probably null	Het
Cdh10	T	C	15: 18,986,769	L362P	probably benign	Het
Dhx16	A	G	17: 35,888,108	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,906,000	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,485,069	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,552,604	V568A	probably damaging	Het
Faf2	T	C	13: 54,641,498		probably null	Het
Fbrsl1	C	T	5: 110,381,640	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,444,291	V282A	probably damaging	Het
Fxr2	C	T	11: 69,652,622	L650F	possibly damaging	Het
Gabrq	A	G	X: 72,836,842	M314V	probably benign	Het
Gnas	T	A	2: 174,298,332	Y157*	probably null	Het
Gtf2i	T	C	5: 134,286,893	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,663,415	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 78,824,640	Q345*	probably null	Het
Hydin	T	C	8: 110,592,776	V4437A	possibly damaging	Het
Idi2	T	A	13: 8,958,542	L112Q	probably damaging	Het
Ift80	C	T	3: 68,962,296	V221M	probably benign	Het
Il16	A	G	7: 83,652,299	F205S	probably benign	Het
Irf1	T	A	11: 53,774,451	M218K	probably benign	Het
Itga8	T	C	2: 12,265,333	N114S	probably benign	Het
Itgae	T	C	11: 73,111,759	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,934		probably null	Het
Krt78	C	A	15: 101,950,898	R288L	probably benign	Het
Lars2	A	T	9: 123,453,248	L632F	probably damaging	Het
Mpdz	T	C	4: 81,317,682	D1220G	probably damaging	Het
Msl1	C	T	11: 98,805,419	T597I	probably damaging	Het
Mtor	T	C	4: 148,530,613		probably benign	Het
Myo1b	T	C	1: 51,782,020	T435A	probably damaging	Het
Neb	A	G	2: 52,225,667	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,849,765	F326L	probably benign	Het
Olfr532	T	C	7: 140,419,668	Y35C	probably damaging	Het
Olfr705	A	G	7: 106,714,334	S116P	possibly damaging	Het
Pak7	T	A	2: 136,087,413	R617W	probably damaging	Het
Peak1	C	A	9: 56,259,202	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,292,828		probably benign	Het
Pmm1	C	T	15: 81,960,786	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,580,434	V454M	probably benign	Het
Ptprf	C	T	4: 118,248,898		probably null	Het
Pygm	G	A	19: 6,392,994		probably null	Het
Rimbp2	T	A	5: 128,797,848		probably benign	Het
Rps6ka5	A	T	12: 100,575,633		probably null	Het
Scarb2	A	G	5: 92,460,803	V188A	probably benign	Het
Sfrp1	T	A	8: 23,412,338		probably benign	Het
Siglec15	T	A	18: 78,043,605		probably benign	Het
Smgc	A	G	15: 91,854,593	I485V	probably benign	Het
Tas2r124	A	G	6: 132,754,835	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879	G185W	probably damaging	Het
Ttll4	A	G	1: 74,688,193	N798S	possibly damaging	Het
Ttn	G	T	2: 76,789,552	T15924N	probably damaging	Het
Utrn	A	T	10: 12,711,557	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 22,958,311	Y690H	probably benign	Het
Vmn2r51	T	C	7: 10,100,227	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,948,397	T14A	probably benign	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
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
IGL02548:Abcc6	APN	7	46005262	missense	probably damaging	0.98
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

2014-02-04