Mutagenetix > Incidental Mutations

Incidental Mutation 'R5642:Abcc1'

440789

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

043290-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14361558-14475737 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14443455 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 699 (E699G)

Ref Sequence

ENSEMBL: ENSMUSP00000097743 (fasta)

Gene Model

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

AlphaFold

O35379

Predicted Effect

probably damaging
Transcript: ENSMUST00000100167
AA Change: E699G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: E699G

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

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

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483	Q4231L	probably damaging	Het
Ap4e1	T	A	2: 127,064,979	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712		probably benign	Het
Cxcr1	G	A	1: 74,191,828	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319		probably null	Het
Dalrd3	C	T	9: 108,572,290	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611	I125N	unknown	Het
Grm3	A	G	5: 9,570,536	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496		probably null	Het
Sema3e	A	G	5: 14,162,243	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220	R653G	probably benign	Het
Them6	A	T	15: 74,721,805	R171W	probably null	Het
Tln2	T	C	9: 67,296,358	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515	C469*	probably null	Het
Tpr	T	C	1: 150,423,818	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418	E543G		Het
Wdr92	A	G	11: 17,227,263	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748	K677E	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
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
gloom	UTSW	16	14411616	missense	probably damaging	1.00
loom	UTSW	16	14472930	missense	probably damaging	0.96
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
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
R7971:Abcc1	UTSW	16	14448579	missense	probably benign
R8048:Abcc1	UTSW	16	14410844	missense	probably damaging	1.00
R8138:Abcc1	UTSW	16	14472887	missense	probably damaging	0.99
R8159:Abcc1	UTSW	16	14472930	missense	probably damaging	0.96
R8319:Abcc1	UTSW	16	14396451	missense	probably damaging	1.00
R8859:Abcc1	UTSW	16	14396361	missense	probably benign	0.00
R8980:Abcc1	UTSW	16	14461097	missense	probably damaging	0.99
X0026:Abcc1	UTSW	16	14459902	missense	possibly damaging	0.94
Z1088:Abcc1	UTSW	16	14410809	missense	probably benign	0.01
Z1177:Abcc1	UTSW	16	14411493	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACACTCTTGGAGGTCTTCAG -3'
(R):5'- GAGCAGCTATCACATGTCACAC -3'

Sequencing Primer
(F):5'- TTCAGGTGTTGACCAGCACAC -3'
(R):5'- ATGTCACACTGGCCAAGG -3'

Posted On

2016-11-08