Mutagenetix > Incidental Mutations

Incidental Mutation 'R1834:Abcc1'

205107

Institutional Source

Beutler Lab

Gene Symbol

Abcc1

Ensembl Gene

ENSMUSG00000023088

Gene Name

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

Synonyms

Mrp1, Mdrap, MRP, Abcc1b, Abcc1a

MMRRC Submission

039861-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14361558-14475737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14423117 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 513 (I513V)

Ref Sequence

ENSEMBL: ENSMUSP00000115627 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100167
AA Change: I513V

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: I513V

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

possibly damaging
Transcript: ENSMUST00000130671
AA Change: I513V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: I513V

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

possibly damaging
Transcript: ENSMUST00000133454
AA Change: I513V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: I513V

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

possibly damaging
Transcript: ENSMUST00000147759
AA Change: I513V

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: I513V

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: ENSMUST00000156089

Meta Mutation Damage Score

0.2036

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,487	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,707,898	S4C	unknown	Het
4933416C03Rik	T	C	10: 116,112,665	R319G	probably benign	Het
Abca3	A	T	17: 24,376,692	N340Y	probably benign	Het
Acacb	C	T	5: 114,235,475	T1855M	probably damaging	Het
Ace	A	G	11: 105,986,094		probably benign	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,317,231		probably benign	Het
Afm	T	A	5: 90,526,424	M265K	probably benign	Het
Agl	A	G	3: 116,788,351	F293S	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgap31	C	A	16: 38,603,703	S667I	probably benign	Het
Bco1	A	G	8: 117,117,437	T297A	probably benign	Het
Bmp1	T	C	14: 70,508,831	S123G	possibly damaging	Het
Caps2	G	A	10: 112,195,718	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,861,219	S845R	probably benign	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Chrna6	A	G	8: 27,407,214	S212P	probably benign	Het
Col10a1	G	C	10: 34,395,015	A328P	probably damaging	Het
Col4a2	A	G	8: 11,402,997	E188G	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,966	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 104,168,101	S1102P	probably damaging	Het
Ddx31	C	T	2: 28,892,453	H603Y	probably damaging	Het
Ddx52	G	A	11: 83,959,497	C568Y	probably benign	Het
Dgki	C	A	6: 37,034,701		probably benign	Het
Dmrt1	A	T	19: 25,509,699	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,124	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,233,759	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,683,632	S678A	probably benign	Het
Ece1	C	T	4: 137,958,001	R601W	probably damaging	Het
Ece1	A	G	4: 137,958,128	N643S	probably damaging	Het
Eno1b	A	G	18: 48,047,463	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350	E312G	probably damaging	Het
Eya3	T	A	4: 132,707,118	V276E	probably damaging	Het
Fam161b	A	G	12: 84,348,778		probably benign	Het
Fem1c	C	T	18: 46,505,282	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,557,869	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,534,680	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm10030	C	T	9: 111,004,879		noncoding transcript	Het
Gm1966	A	T	7: 106,603,776	V87D	possibly damaging	Het
Gm3443	T	A	19: 21,555,679	H2Q	unknown	Het
Gm5800	T	C	14: 51,716,092	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,649,079	R9L	probably damaging	Het
Ica1l	A	G	1: 60,028,236		probably benign	Het
Ice1	G	A	13: 70,615,338	T167I	probably damaging	Het
Ifi204	T	A	1: 173,747,606	R618S	unknown	Het
Itga2	C	A	13: 114,856,726	K784N	probably damaging	Het
Itga2	T	A	13: 114,856,727	K784M	probably damaging	Het
Kif3b	A	G	2: 153,317,485	E402G	probably benign	Het
Lrp2	T	C	2: 69,466,880	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,453,518	L267I	probably damaging	Het
Map1s	A	G	8: 70,916,411	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,119,273	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,707,811	S16G	probably benign	Het
Nav3	T	C	10: 109,720,022	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,627,129	N2417S	probably damaging	Het
Neb	T	C	2: 52,236,895	N3605S	probably damaging	Het
Net1	A	T	13: 3,912,941		probably benign	Het
Nsd1	A	G	13: 55,313,351	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,370,187	I534N	probably damaging	Het
Nudt12	T	A	17: 59,011,076	H58L	probably damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr291	A	G	7: 84,856,482	T38A	probably damaging	Het
Olfr403	A	G	11: 74,195,653	H50R	probably benign	Het
Olfr695	A	G	7: 106,874,141	Y35H	probably damaging	Het
Olfr826	A	G	10: 130,180,832	I16T	probably benign	Het
Pef1	C	A	4: 130,121,173	C10*	probably null	Het
Phf21b	A	G	15: 84,797,346	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,820,945		probably null	Het
Pi16	A	G	17: 29,327,445	E399G	possibly damaging	Het
Pipox	A	T	11: 77,882,123	Y321N	probably damaging	Het
Plin4	A	G	17: 56,103,522	S1170P	probably damaging	Het
Pnma2	C	T	14: 66,917,213	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710	I738T	probably damaging	Het
Prkcsh	A	T	9: 22,008,338	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,163,659	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,015,213	T123A	probably benign	Het
Robo4	A	G	9: 37,413,059	D961G	probably benign	Het
Rps27a	A	G	11: 29,546,299	Y105H	probably benign	Het
Scaper	A	G	9: 55,816,734	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,324,616	Q666H	probably benign	Het
Scn1a	T	A	2: 66,324,617	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,003,153		probably null	Het
Sec14l3	A	G	11: 4,066,510		probably benign	Het
Selp	C	A	1: 164,128,160		probably null	Het
Sim1	A	G	10: 50,909,828	D259G	probably damaging	Het
Sptan1	T	A	2: 29,992,001		probably benign	Het
Sptbn4	T	A	7: 27,366,646	E679V	probably null	Het
Sytl3	G	A	17: 6,728,327	E169K	probably benign	Het
Taar1	T	C	10: 23,921,189	C262R	probably benign	Het
Tbc1d32	A	G	10: 56,017,604	I1291T	probably benign	Het
Tcrg-C3	A	G	13: 19,263,365	T163A	possibly damaging	Het
Tet1	G	A	10: 62,813,665	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,071,635	G7W	probably damaging	Het
Thada	A	G	17: 84,226,004	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,761,481	V610A	probably benign	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Tmem65	A	T	15: 58,787,113	H200Q	probably damaging	Het
Trim62	T	C	4: 128,909,225	V356A	possibly damaging	Het
Ttn	T	C	2: 76,732,158	D28781G	probably damaging	Het
Ttn	C	T	2: 76,763,260	V20679I	probably benign	Het
Unc80	A	T	1: 66,639,248	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,506,426	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,592,456	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,061,410	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,413,030		probably benign	Het
Vwa3a	A	G	7: 120,790,136	T66A	probably benign	Het
Xirp2	T	A	2: 67,511,140	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,911,530	T70M	probably damaging	Het
Zcchc6	A	T	13: 59,814,935	Y339*	probably null	Het
Zfp248	T	C	6: 118,428,970	T452A	probably damaging	Het
Zfp988	A	T	4: 147,332,887	I593F	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGAAACCAACCTGATTTGAAGC -3'
(R):5'- AGAGCCATTTGTCACTGTGGTAC -3'

Sequencing Primer
(F):5'- TCCGAGAACTGGCATTATGGC -3'
(R):5'- ATTTGTCACTGTGGTACTCACC -3'

Posted On

2014-06-23