Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00089:Abcc1'

869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc1

Ensembl Gene

ENSMUSG00000023088

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 1

Synonyms

Mrp1, Mdrap, MRP, Abcc1b, Abcc1a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL00089

Quality Score

Status

Chromosome

Chromosomal Location

14361558-14475737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14460983 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1052 (N1052K)

Ref Sequence

ENSEMBL: ENSMUSP00000097743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000147759]

Predicted Effect

probably benign
Transcript: ENSMUST00000100167
AA Change: N1052K

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: N1052K

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC
transmembrane domain	77	94	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC
low complexity region	279	290	N/A	INTRINSIC
Pfam:ABC_membrane	326	597	7.8e-44	PFAM
AAA	670	845	4.07e-8	SMART
Pfam:ABC_membrane	971	1243	3e-52	PFAM
AAA	1316	1501	5.8e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130671

SMART Domains

Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC
transmembrane domain	77	94	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC
low complexity region	279	290	N/A	INTRINSIC
Pfam:ABC_membrane	326	597	1.6e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133454

SMART Domains

Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC
transmembrane domain	77	94	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC
low complexity region	279	290	N/A	INTRINSIC
Pfam:ABC_membrane	326	597	1.6e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146032

Predicted Effect

probably benign
Transcript: ENSMUST00000147759

SMART Domains

Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC
transmembrane domain	77	94	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	139	161	N/A	INTRINSIC
transmembrane domain	176	198	N/A	INTRINSIC
low complexity region	279	290	N/A	INTRINSIC
Pfam:ABC_membrane	326	597	1.6e-48	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein plays an essential role in the defense against toxic compounds and serves as the major high-affinity transporter of leukotriene C4. The encoded protein may also play an essential role in steroid hormone homeostasis as a transporter for steroid hormones and their metabolites. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene have a reduced response to inflammatory stimulus, increased levels of glutathione due to impaired metabolism, and are hypersensitive to the anticancer drug etoposide. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,245,987		probably benign	Het
A430033K04Rik	T	C	5: 138,647,592	S580P	probably damaging	Het
Abca12	T	A	1: 71,303,541	I927F	possibly damaging	Het
Abca8a	A	G	11: 110,050,939	V1168A	possibly damaging	Het
Adamts13	C	A	2: 27,005,361	Q1155K	probably benign	Het
Adgre4	A	T	17: 55,791,915		probably benign	Het
AF529169	C	T	9: 89,601,800	V515I	probably benign	Het
Ahsa2	T	C	11: 23,496,837	E42G	probably damaging	Het
Ankk1	T	G	9: 49,421,900	I95L	probably benign	Het
Anpep	A	T	7: 79,841,986	L89Q	probably damaging	Het
Arl5a	T	C	2: 52,416,071	N83S	probably benign	Het
Atp11b	A	G	3: 35,809,376		probably null	Het
Atp6v0a2	T	C	5: 124,721,777	F849L	probably benign	Het
BC106179	A	G	16: 23,224,272		probably benign	Het
Bcl2a1c	T	C	9: 114,330,540	*129Q	probably null	Het
C2cd5	T	C	6: 143,017,945	I888V	probably null	Het
Calb2	A	T	8: 110,145,671	L227Q	probably damaging	Het
Casc4	T	C	2: 121,910,793		probably benign	Het
Ccp110	G	T	7: 118,722,424	C434F	possibly damaging	Het
Cd209c	A	T	8: 3,940,339	C160S	probably damaging	Het
Chmp1a	A	G	8: 123,209,019		probably null	Het
Col6a6	T	A	9: 105,758,191		probably null	Het
Cyld	T	A	8: 88,705,457	C28S	probably benign	Het
Dapk1	A	T	13: 60,761,040	I1156F	probably benign	Het
Dennd1a	A	T	2: 38,243,442	Y16*	probably null	Het
Dennd3	T	G	15: 73,567,133	S1117A	probably benign	Het
Dgka	A	T	10: 128,733,086	D203E	probably damaging	Het
Dhx15	G	T	5: 52,166,775	L392I	probably damaging	Het
Dnah10	A	G	5: 124,746,616	D567G	probably benign	Het
Eaf1	T	A	14: 31,504,526		probably null	Het
Efnb2	T	C	8: 8,660,589	D9G	probably benign	Het
Fcrla	A	T	1: 170,927,498	C15S	probably benign	Het
Flt3	T	C	5: 147,354,876	N588S	probably damaging	Het
Gm10146	A	T	10: 78,393,473		noncoding transcript	Het
Gnpat	T	C	8: 124,876,914		probably benign	Het
Gpr39	A	C	1: 125,872,731	R406S	probably benign	Het
H2-Aa	T	C	17: 34,284,530	H31R	probably damaging	Het
Helz2	G	T	2: 181,229,702	R2706S	probably damaging	Het
Hip1r	T	A	5: 123,989,735		probably null	Het
Hnf4g	A	G	3: 3,648,082	T239A	probably benign	Het
Hps5	A	T	7: 46,775,938	I413N	probably damaging	Het
Hspg2	G	A	4: 137,528,820	G1413R	probably damaging	Het
Itgax	T	G	7: 128,135,326	M352R	probably damaging	Het
Katna1	T	A	10: 7,762,804	M433K	probably damaging	Het
Kcna4	T	G	2: 107,295,862	S314A	probably damaging	Het
Kif13b	C	T	14: 64,669,693	T42I	possibly damaging	Het
Krt78	G	A	15: 101,947,510	T622I	probably benign	Het
Krt86	T	A	15: 101,476,515	M263K	possibly damaging	Het
Lap3	A	G	5: 45,506,169		probably benign	Het
Lepr	A	T	4: 101,815,035	R1085S	probably benign	Het
Lmcd1	A	G	6: 112,329,808	I314V	probably benign	Het
Luc7l2	T	C	6: 38,608,170		probably benign	Het
Mcm2	T	A	6: 88,893,401	M117L	probably benign	Het
Mdh2	T	C	5: 135,786,284	Y133H	probably damaging	Het
Mlkl	T	A	8: 111,319,428	R317*	probably null	Het
Mrps34	T	C	17: 24,895,370	L68P	probably damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Myo18a	A	G	11: 77,847,938	E1299G	probably damaging	Het
Nlrp14	T	C	7: 107,192,502	L139P	possibly damaging	Het
Nudcd2	A	G	11: 40,736,586	D86G	probably damaging	Het
Olfr1212	T	A	2: 88,958,766	I100N	probably damaging	Het
Olfr1318	A	T	2: 112,156,067	M39L	probably benign	Het
Olfr819	T	A	10: 129,965,804	R293W	probably damaging	Het
Patj	T	C	4: 98,465,106	F629L	probably damaging	Het
Rad23a	A	G	8: 84,835,895	F280L	probably damaging	Het
Ralgapa1	C	A	12: 55,722,773	G811V	probably damaging	Het
St18	A	G	1: 6,802,572	D177G	probably benign	Het
Sult1c2	A	C	17: 53,833,119	Y159*	probably null	Het
Surf6	T	A	2: 26,893,069		probably null	Het
Susd6	T	G	12: 80,870,067		probably benign	Het
Sypl2	G	A	3: 108,226,426		probably benign	Het
Ubr5	A	T	15: 37,984,036	F2289Y	probably damaging	Het
Vcl	T	C	14: 20,987,003	I223T	probably benign	Het
Vmn1r234	C	T	17: 21,229,598	T258I	possibly damaging	Het
Vmn2r58	T	A	7: 41,864,430	K263M	possibly damaging	Het
Vmo1	A	T	11: 70,513,598	N192K	probably damaging	Het
Wrnip1	A	G	13: 32,816,329	N440D	probably damaging	Het
Zc3h4	T	C	7: 16,422,234	Y264H	unknown	Het
Zfp639	T	G	3: 32,519,753		probably null	Het
Zfp831	T	C	2: 174,646,285	Y918H	possibly damaging	Het

Other mutations in Abcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Abcc1	APN	16	14470534	missense	probably null	0.00
IGL00475:Abcc1	APN	16	14436573	missense	probably damaging	1.00
IGL00516:Abcc1	APN	16	14413312	nonsense	probably null
IGL00765:Abcc1	APN	16	14411508	missense	probably damaging	0.99
IGL00792:Abcc1	APN	16	14410926	missense	probably benign	0.18
IGL01678:Abcc1	APN	16	14405019	missense	probably null	0.96
IGL01683:Abcc1	APN	16	14396424	missense	probably damaging	1.00
IGL01955:Abcc1	APN	16	14410795	missense	probably damaging	1.00
IGL02048:Abcc1	APN	16	14411519	missense	probably damaging	0.98
IGL02345:Abcc1	APN	16	14396351	missense	possibly damaging	0.95
IGL02366:Abcc1	APN	16	14467979	splice site	probably benign
IGL02431:Abcc1	APN	16	14419734	missense	probably damaging	1.00
IGL02480:Abcc1	APN	16	14404005	missense	possibly damaging	0.87
IGL02651:Abcc1	APN	16	14466126	missense	probably benign	0.00
IGL02902:Abcc1	APN	16	14423127	missense	probably damaging	1.00
IGL03101:Abcc1	APN	16	14389868	missense	probably damaging	1.00
IGL03230:Abcc1	APN	16	14457947	missense	probably benign
IGL03308:Abcc1	APN	16	14470611	missense	possibly damaging	0.55
PIT4544001:Abcc1	UTSW	16	14405079	missense	probably damaging	1.00
R0310:Abcc1	UTSW	16	14410927	missense	probably damaging	0.98
R0594:Abcc1	UTSW	16	14389880	missense	probably benign	0.05
R0894:Abcc1	UTSW	16	14465137	missense	possibly damaging	0.64
R0928:Abcc1	UTSW	16	14389985	critical splice donor site	probably null
R1367:Abcc1	UTSW	16	14443386	missense	probably damaging	1.00
R1496:Abcc1	UTSW	16	14448434	missense	probably damaging	1.00
R1643:Abcc1	UTSW	16	14413368	missense	probably damaging	1.00
R1795:Abcc1	UTSW	16	14465137	missense	possibly damaging	0.64
R1834:Abcc1	UTSW	16	14423117	missense	possibly damaging	0.88
R1847:Abcc1	UTSW	16	14445449	missense	probably benign	0.02
R1959:Abcc1	UTSW	16	14396393	missense	probably damaging	1.00
R1961:Abcc1	UTSW	16	14396393	missense	probably damaging	1.00
R2017:Abcc1	UTSW	16	14461204	missense	probably damaging	1.00
R2224:Abcc1	UTSW	16	14472068	missense	probably damaging	1.00
R2377:Abcc1	UTSW	16	14467923	missense	probably damaging	0.97
R2513:Abcc1	UTSW	16	14473009	splice site	probably null
R2876:Abcc1	UTSW	16	14457960	missense	probably benign
R3003:Abcc1	UTSW	16	14436529	missense	probably damaging	1.00
R3941:Abcc1	UTSW	16	14396399	missense	probably benign	0.00
R4119:Abcc1	UTSW	16	14394013	missense	probably benign	0.43
R4191:Abcc1	UTSW	16	14389864	missense	probably damaging	1.00
R4369:Abcc1	UTSW	16	14460993	missense	possibly damaging	0.88
R4428:Abcc1	UTSW	16	14445300	missense	probably damaging	0.97
R4589:Abcc1	UTSW	16	14394031	missense	probably benign	0.00
R4779:Abcc1	UTSW	16	14410771	missense	probably benign	0.35
R5027:Abcc1	UTSW	16	14404053	critical splice donor site	probably null
R5275:Abcc1	UTSW	16	14466186	missense	probably damaging	1.00
R5418:Abcc1	UTSW	16	14461132	missense	probably benign	0.02
R5490:Abcc1	UTSW	16	14410917	missense	probably damaging	1.00
R5527:Abcc1	UTSW	16	14460978	missense	probably benign	0.18
R5641:Abcc1	UTSW	16	14472013	missense	probably benign	0.00
R5642:Abcc1	UTSW	16	14443455	missense	probably damaging	1.00
R5875:Abcc1	UTSW	16	14467037	missense	possibly damaging	0.94
R5916:Abcc1	UTSW	16	14465142	missense	possibly damaging	0.95
R6112:Abcc1	UTSW	16	14460916	missense	probably damaging	1.00
R6331:Abcc1	UTSW	16	14465056	missense	probably damaging	0.97
R6464:Abcc1	UTSW	16	14447490	missense	probably damaging	1.00
R6950:Abcc1	UTSW	16	14411616	missense	probably damaging	1.00
R7024:Abcc1	UTSW	16	14413383	critical splice donor site	probably null
R7115:Abcc1	UTSW	16	14437725	missense	probably benign	0.11
R7187:Abcc1	UTSW	16	14466997	missense	probably benign
R7298:Abcc1	UTSW	16	14396472	missense	possibly damaging	0.89
R7342:Abcc1	UTSW	16	14465169	missense	probably damaging	0.99
R7474:Abcc1	UTSW	16	14472986	missense	possibly damaging	0.95
R7488:Abcc1	UTSW	16	14389899	nonsense	probably null
R7583:Abcc1	UTSW	16	14404038	missense	probably damaging	1.00
R7619:Abcc1	UTSW	16	14445419	missense	probably damaging	0.96
X0026:Abcc1	UTSW	16	14459902	missense	possibly damaging	0.94
Z1088:Abcc1	UTSW	16	14410809	missense	probably benign	0.01

Posted On

2011-07-12