Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02651:Abcc1'

302142

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 #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

14361558-14475737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14466126 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1202 (C1202S)

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: C1202S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: C1202S

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,932,506	G233S	probably benign	Het
Acaca	C	T	11: 84,245,204		probably benign	Het
Ap3b1	T	A	13: 94,477,021	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,698,864	Q309K	probably damaging	Het
Asgr1	T	C	11: 70,057,130	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,334,091		probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp8b2	A	C	3: 89,954,589		probably null	Het
Btnl2	A	G	17: 34,356,222	M1V	probably null	Het
Cpsf3	T	A	12: 21,293,297	M121K	probably damaging	Het
Creb3l3	A	G	10: 81,084,834	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,556,740	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,622	I2597V	probably benign	Het
Ercc5	C	A	1: 44,156,944	S32R	probably damaging	Het
Fchsd2	T	A	7: 101,277,600	N656K	possibly damaging	Het
Fga	G	A	3: 83,028,534	E23K	probably benign	Het
Fn1	T	C	1: 71,597,676	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,593,534	E423D	probably damaging	Het
Glg1	C	T	8: 111,160,727	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,460,656	R210L	probably benign	Het
Hbb-y	T	G	7: 103,852,750	K105Q	probably benign	Het
Hspg2	A	T	4: 137,557,445		probably benign	Het
Ipo11	T	C	13: 106,875,606	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,106,398	M1322V	probably damaging	Het
Jhy	A	G	9: 40,917,335	L425P	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,478,305	E159D	possibly damaging	Het
Msh6	A	T	17: 87,989,515	L1213F	probably damaging	Het
Npy1r	A	C	8: 66,705,023	R328S	possibly damaging	Het
Olfr1247	A	T	2: 89,609,498	N201K	possibly damaging	Het
Olfr988	A	C	2: 85,353,050	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,491,181	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,483,814	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,222,052	I301N	probably damaging	Het
Rptor	T	C	11: 119,892,612	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,642,370	F171L	possibly damaging	Het
Senp5	A	G	16: 31,990,079	L92P	probably benign	Het
Sfmbt1	T	C	14: 30,815,537	S736P	probably damaging	Het
Tacr1	T	C	6: 82,492,641	S169P	probably damaging	Het
Tbc1d21	A	T	9: 58,363,101	Y130*	probably null	Het
Tle2	G	A	10: 81,586,889	G428D	probably damaging	Het
Tmem117	T	A	15: 95,094,561	N367K	probably damaging	Het
Tmem210	A	G	2: 25,289,089	T130A	possibly damaging	Het
Ttn	T	G	2: 76,850,024		probably benign	Het
Ttyh1	T	C	7: 4,124,679	L122P	probably damaging	Het
Vmn2r60	T	C	7: 42,195,586	F791S	probably damaging	Het
Vps13d	A	T	4: 145,164,559	N575K	probably benign	Het
Vps8	T	C	16: 21,517,336	V746A	probably damaging	Het
Wdfy3	A	T	5: 101,896,475	M1888K	probably benign	Het
Zfp595	T	C	13: 67,320,953	D3G	probably benign	Het

Other mutations in Abcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abcc1	APN	16	14460983	missense	probably benign	0.34
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
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

2015-04-16