Mutagenetix > Incidental Mutations

Incidental Mutation 'R4191:Abcc1'

318329

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

041022-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4191 (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 14389864 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000116726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100167] [ENSMUST00000130671] [ENSMUST00000133454] [ENSMUST00000134776] [ENSMUST00000144676] [ENSMUST00000147759] [ENSMUST00000154748]

Predicted Effect

probably damaging
Transcript: ENSMUST00000100167
AA Change: T36A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: T36A

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: T36A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: T36A

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: T36A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: T36A

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 damaging
Transcript: ENSMUST00000134776
AA Change: T36A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120933
Gene: ENSMUSG00000023088
AA Change: T36A

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	131	153	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144074

Predicted Effect

probably damaging
Transcript: ENSMUST00000144676
AA Change: T22A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116726
Gene: ENSMUSG00000023088
AA Change: T22A

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	63	80	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147759
AA Change: T36A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: T36A

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 damaging
Transcript: ENSMUST00000154748
AA Change: T36A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115763
Gene: ENSMUSG00000023088
AA Change: T36A

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC
transmembrane domain	115	137	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC

Meta Mutation Damage Score

0.5100

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (57/60)

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
1700001C19Rik	C	T	17: 47,436,637	R61H	probably damaging	Het
Ache	A	T	5: 137,291,072	I347F	probably damaging	Het
Adgrl1	C	G	8: 83,938,940	R1464G	probably benign	Het
Cdh11	T	C	8: 102,650,748	D422G	probably damaging	Het
Cdx1	C	T	18: 61,020,438	S176N	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Cyct	G	T	2: 76,354,191	P72Q	probably damaging	Het
Ddx19b	A	T	8: 111,011,348	L256Q	probably damaging	Het
Disp1	G	T	1: 183,089,173	A561E	probably damaging	Het
Donson	C	A	16: 91,688,592	A41S	possibly damaging	Het
Gldc	T	C	19: 30,145,658	E279G	probably damaging	Het
Gpr160	A	T	3: 30,896,714	I312F	possibly damaging	Het
H2-Eb2	G	A	17: 34,344,555		probably benign	Het
Igdcc4	A	G	9: 65,124,151	Q457R	probably benign	Het
Irf2bp2	T	C	8: 126,593,345	D31G	probably damaging	Het
Klrb1	T	A	6: 128,713,634	K42*	probably null	Het
Lrrfip1	A	T	1: 91,110,399	E446D	probably benign	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Maml3	A	G	3: 51,689,969	V1098A	probably benign	Het
Mrgpra4	T	C	7: 47,981,119	S245G	probably benign	Het
Mybbp1a	A	G	11: 72,451,287	E1283G	probably damaging	Het
Myh2	A	G	11: 67,177,400	S285G	possibly damaging	Het
Myh7b	A	G	2: 155,633,399	D1876G	probably benign	Het
Nr4a2	T	C	2: 57,112,379	S21G	probably damaging	Het
Olfr1049	C	A	2: 86,255,322	V124L	probably benign	Het
Olfr1384	T	A	11: 49,513,812	M58K	probably damaging	Het
Olfr251	T	A	9: 38,378,352	M157K	probably damaging	Het
Olfr843	A	G	9: 19,249,087	V104A	probably benign	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Pcsk6	T	C	7: 66,025,308	S476P	probably damaging	Het
Pex10	T	C	4: 155,067,905		probably null	Het
Pgf	T	C	12: 85,171,787	D63G	probably benign	Het
Piwil4	A	G	9: 14,715,000	S465P	probably damaging	Het
Plcb1	A	C	2: 135,345,090	H759P	probably damaging	Het
Pmfbp1	A	T	8: 109,527,628	M432L	probably benign	Het
Prodh	C	T	16: 18,073,640	V480I	probably benign	Het
Rmnd1	A	T	10: 4,410,809		probably benign	Het
Senp2	G	T	16: 22,046,667	W580L	probably damaging	Het
Svep1	C	T	4: 58,046,601	C3510Y	possibly damaging	Het
Tanc1	A	G	2: 59,839,013	I1274V	probably damaging	Het
Tep1	T	C	14: 50,836,806	E1874G	probably damaging	Het
Tgfbr2	T	C	9: 116,109,941	T298A	probably damaging	Het
Tlk1	G	A	2: 70,725,547	R423C	probably damaging	Het
Trove2	T	C	1: 143,770,786	I74V	probably benign	Het
Trp53rkb	T	C	2: 166,795,475	I117T	probably damaging	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Zfp112	A	G	7: 24,126,143	D512G	probably benign	Het
Zfyve19	A	G	2: 119,210,831	K76R	possibly 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
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
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'- TGCTGCACTAGGATCACCTC -3'
(R):5'- GGCTAGCCTGTACTACACAAG -3'

Sequencing Primer
(F):5'- ATATACTTGTGTTGAGAGATCCCTG -3'
(R):5'- TACTACACAAGTACCCAGAAGC -3'

Posted On

2015-06-10