Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4544001:Abcc1'

556427

Institutional Source

Beutler Lab

Gene Symbol

Abcc1

Ensembl Gene

ENSMUSG00000023088

Gene Name

ATP-binding cassette, sub-family C member 1

Synonyms

Mdrap, Mrp1, MRP, Abcc1b, Abcc1a

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

PIT4544001 (G1)

Quality Score

141.008

Status

Not validated

Chromosome

Chromosomal Location

14179317-14292743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14222943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 248 (D248G)

Ref Sequence

ENSEMBL: ENSMUSP00000097743 (fasta)

Gene Model

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

AlphaFold

O35379

Predicted Effect

probably damaging
Transcript: ENSMUST00000100167
AA Change: D248G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: D248G

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 damaging
Transcript: ENSMUST00000130671
AA Change: D248G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: D248G

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: ENSMUST00000133454
AA Change: D248G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: D248G

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: ENSMUST00000134776

SMART Domains

Protein: ENSMUSP00000120933
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	131	153	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147759
AA Change: D248G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: D248G

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: 92.9%
3x: 90.6%
10x: 84.5%
20x: 71.1%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,231,875 (GRCm39)	M1358K	possibly damaging	Het
Adgrl2	C	T	3: 148,596,157 (GRCm39)	E60K	probably damaging	Het
Aff3	C	T	1: 38,249,443 (GRCm39)	A555T	probably benign	Het
Aspn	A	T	13: 49,707,458 (GRCm39)	K106*	probably null	Het
Atp8b3	A	T	10: 80,366,420 (GRCm39)	L281Q	probably benign	Het
Ccdc54	A	T	16: 50,410,343 (GRCm39)	C308S	possibly damaging	Het
Cpa1	T	C	6: 30,641,857 (GRCm39)	V227A	probably benign	Het
Dld	G	A	12: 31,385,556 (GRCm39)	Q262*	probably null	Het
Eif4e3	A	T	6: 99,609,314 (GRCm39)	W161R	probably damaging	Het
Epha5	T	A	5: 84,479,471 (GRCm39)	T178S	possibly damaging	Het
Erbb2	A	T	11: 98,311,865 (GRCm39)	T134S	probably benign	Het
Golga3	A	T	5: 110,336,556 (GRCm39)	E358D	possibly damaging	Het
Gon7	A	T	12: 102,720,409 (GRCm39)	D74E	probably benign	Het
Hmcn2	A	G	2: 31,318,262 (GRCm39)	E3869G	probably damaging	Het
Ifit1bl1	C	T	19: 34,571,415 (GRCm39)	M347I	possibly damaging	Het
Ipo5	T	A	14: 121,165,949 (GRCm39)	D331E	probably damaging	Het
Mep1a	C	T	17: 43,793,178 (GRCm39)	C355Y	probably damaging	Het
Nkain1	A	G	4: 130,532,098 (GRCm38)	S196P	probably damaging	Het
Nudt21	A	T	8: 94,746,225 (GRCm39)	F158I	unknown	Het
Padi3	T	C	4: 140,518,794 (GRCm39)	T443A	probably benign	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Phkb	A	G	8: 86,738,266 (GRCm39)	I520V	probably benign	Het
Plxna1	A	G	6: 89,334,411 (GRCm39)	S73P	probably benign	Het
Rfk	T	C	19: 17,372,708 (GRCm39)	S77P	probably damaging	Het
Sdk1	A	G	5: 141,941,987 (GRCm39)	N545S	probably benign	Het
Setd2	A	G	9: 110,380,232 (GRCm39)	N1349S	probably damaging	Het
Slc22a27	T	A	19: 7,887,103 (GRCm39)	Q262L	probably damaging	Het
Slc34a3	T	C	2: 25,120,607 (GRCm39)	D440G	probably benign	Het
Slc4a4	T	C	5: 89,186,402 (GRCm39)	L161P	probably damaging	Het
Stxbp5	A	C	10: 9,693,048 (GRCm39)		probably null	Het
Tekt1	C	T	11: 72,245,660 (GRCm39)	R165H	probably damaging	Het
Tmpo	T	C	10: 90,997,976 (GRCm39)	N604D	probably benign	Het
Trpm1	A	T	7: 63,848,998 (GRCm39)		probably benign	Het
Ubqln3	A	C	7: 103,790,550 (GRCm39)	H513Q	probably damaging	Het
Ubr4	A	G	4: 139,129,871 (GRCm39)	N664D	possibly damaging	Het
Usp37	G	A	1: 74,509,738 (GRCm39)	T477I	possibly damaging	Het
Zbtb11	T	G	16: 55,818,556 (GRCm39)	L660*	probably null	Het

Other mutations in Abcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abcc1	APN	16	14,278,847 (GRCm39)	missense	probably benign	0.34
IGL00094:Abcc1	APN	16	14,288,398 (GRCm39)	missense	probably null	0.00
IGL00475:Abcc1	APN	16	14,254,437 (GRCm39)	missense	probably damaging	1.00
IGL00516:Abcc1	APN	16	14,231,176 (GRCm39)	nonsense	probably null
IGL00765:Abcc1	APN	16	14,229,372 (GRCm39)	missense	probably damaging	0.99
IGL00792:Abcc1	APN	16	14,228,790 (GRCm39)	missense	probably benign	0.18
IGL01678:Abcc1	APN	16	14,222,883 (GRCm39)	missense	probably null	0.96
IGL01683:Abcc1	APN	16	14,214,288 (GRCm39)	missense	probably damaging	1.00
IGL01955:Abcc1	APN	16	14,228,659 (GRCm39)	missense	probably damaging	1.00
IGL02048:Abcc1	APN	16	14,229,383 (GRCm39)	missense	probably damaging	0.98
IGL02345:Abcc1	APN	16	14,214,215 (GRCm39)	missense	possibly damaging	0.95
IGL02366:Abcc1	APN	16	14,285,843 (GRCm39)	splice site	probably benign
IGL02431:Abcc1	APN	16	14,237,598 (GRCm39)	missense	probably damaging	1.00
IGL02480:Abcc1	APN	16	14,221,869 (GRCm39)	missense	possibly damaging	0.87
IGL02651:Abcc1	APN	16	14,283,990 (GRCm39)	missense	probably benign	0.00
IGL02902:Abcc1	APN	16	14,240,991 (GRCm39)	missense	probably damaging	1.00
IGL03101:Abcc1	APN	16	14,207,732 (GRCm39)	missense	probably damaging	1.00
IGL03230:Abcc1	APN	16	14,275,811 (GRCm39)	missense	probably benign
IGL03308:Abcc1	APN	16	14,288,475 (GRCm39)	missense	possibly damaging	0.55
gloom	UTSW	16	14,229,480 (GRCm39)	missense	probably damaging	1.00
loom	UTSW	16	14,290,794 (GRCm39)	missense	probably damaging	0.96
R0310:Abcc1	UTSW	16	14,228,791 (GRCm39)	missense	probably damaging	0.98
R0594:Abcc1	UTSW	16	14,207,744 (GRCm39)	missense	probably benign	0.05
R0894:Abcc1	UTSW	16	14,283,001 (GRCm39)	missense	possibly damaging	0.64
R0928:Abcc1	UTSW	16	14,207,849 (GRCm39)	critical splice donor site	probably null
R1367:Abcc1	UTSW	16	14,261,250 (GRCm39)	missense	probably damaging	1.00
R1496:Abcc1	UTSW	16	14,266,298 (GRCm39)	missense	probably damaging	1.00
R1643:Abcc1	UTSW	16	14,231,232 (GRCm39)	missense	probably damaging	1.00
R1795:Abcc1	UTSW	16	14,283,001 (GRCm39)	missense	possibly damaging	0.64
R1834:Abcc1	UTSW	16	14,240,981 (GRCm39)	missense	possibly damaging	0.88
R1847:Abcc1	UTSW	16	14,263,313 (GRCm39)	missense	probably benign	0.02
R1959:Abcc1	UTSW	16	14,214,257 (GRCm39)	missense	probably damaging	1.00
R1961:Abcc1	UTSW	16	14,214,257 (GRCm39)	missense	probably damaging	1.00
R2017:Abcc1	UTSW	16	14,279,068 (GRCm39)	missense	probably damaging	1.00
R2224:Abcc1	UTSW	16	14,289,932 (GRCm39)	missense	probably damaging	1.00
R2377:Abcc1	UTSW	16	14,285,787 (GRCm39)	missense	probably damaging	0.97
R2513:Abcc1	UTSW	16	14,290,873 (GRCm39)	splice site	probably null
R2876:Abcc1	UTSW	16	14,275,824 (GRCm39)	missense	probably benign
R3003:Abcc1	UTSW	16	14,254,393 (GRCm39)	missense	probably damaging	1.00
R3941:Abcc1	UTSW	16	14,214,263 (GRCm39)	missense	probably benign	0.00
R4119:Abcc1	UTSW	16	14,211,877 (GRCm39)	missense	probably benign	0.43
R4191:Abcc1	UTSW	16	14,207,728 (GRCm39)	missense	probably damaging	1.00
R4369:Abcc1	UTSW	16	14,278,857 (GRCm39)	missense	possibly damaging	0.88
R4428:Abcc1	UTSW	16	14,263,164 (GRCm39)	missense	probably damaging	0.97
R4589:Abcc1	UTSW	16	14,211,895 (GRCm39)	missense	probably benign	0.00
R4779:Abcc1	UTSW	16	14,228,635 (GRCm39)	missense	probably benign	0.35
R5027:Abcc1	UTSW	16	14,221,917 (GRCm39)	critical splice donor site	probably null
R5275:Abcc1	UTSW	16	14,284,050 (GRCm39)	missense	probably damaging	1.00
R5418:Abcc1	UTSW	16	14,278,996 (GRCm39)	missense	probably benign	0.02
R5490:Abcc1	UTSW	16	14,228,781 (GRCm39)	missense	probably damaging	1.00
R5527:Abcc1	UTSW	16	14,278,842 (GRCm39)	missense	probably benign	0.18
R5641:Abcc1	UTSW	16	14,289,877 (GRCm39)	missense	probably benign	0.00
R5642:Abcc1	UTSW	16	14,261,319 (GRCm39)	missense	probably damaging	1.00
R5875:Abcc1	UTSW	16	14,284,901 (GRCm39)	missense	possibly damaging	0.94
R5916:Abcc1	UTSW	16	14,283,006 (GRCm39)	missense	possibly damaging	0.95
R6112:Abcc1	UTSW	16	14,278,780 (GRCm39)	missense	probably damaging	1.00
R6331:Abcc1	UTSW	16	14,282,920 (GRCm39)	missense	probably damaging	0.97
R6464:Abcc1	UTSW	16	14,265,354 (GRCm39)	missense	probably damaging	1.00
R6950:Abcc1	UTSW	16	14,229,480 (GRCm39)	missense	probably damaging	1.00
R7024:Abcc1	UTSW	16	14,231,247 (GRCm39)	critical splice donor site	probably null
R7115:Abcc1	UTSW	16	14,255,589 (GRCm39)	missense	probably benign	0.11
R7187:Abcc1	UTSW	16	14,284,861 (GRCm39)	missense	probably benign
R7298:Abcc1	UTSW	16	14,214,336 (GRCm39)	missense	possibly damaging	0.89
R7342:Abcc1	UTSW	16	14,283,033 (GRCm39)	missense	probably damaging	0.99
R7474:Abcc1	UTSW	16	14,290,850 (GRCm39)	missense	possibly damaging	0.95
R7488:Abcc1	UTSW	16	14,207,763 (GRCm39)	nonsense	probably null
R7583:Abcc1	UTSW	16	14,221,902 (GRCm39)	missense	probably damaging	1.00
R7619:Abcc1	UTSW	16	14,263,283 (GRCm39)	missense	probably damaging	0.96
R7971:Abcc1	UTSW	16	14,266,443 (GRCm39)	missense	probably benign
R8048:Abcc1	UTSW	16	14,228,708 (GRCm39)	missense	probably damaging	1.00
R8138:Abcc1	UTSW	16	14,290,751 (GRCm39)	missense	probably damaging	0.99
R8159:Abcc1	UTSW	16	14,290,794 (GRCm39)	missense	probably damaging	0.96
R8319:Abcc1	UTSW	16	14,214,315 (GRCm39)	missense	probably damaging	1.00
R8859:Abcc1	UTSW	16	14,214,225 (GRCm39)	missense	probably benign	0.00
R8980:Abcc1	UTSW	16	14,278,961 (GRCm39)	missense	probably damaging	0.99
R9480:Abcc1	UTSW	16	14,211,889 (GRCm39)	missense	probably damaging	1.00
R9519:Abcc1	UTSW	16	14,207,681 (GRCm39)	missense	probably benign
R9653:Abcc1	UTSW	16	14,214,257 (GRCm39)	missense	probably damaging	1.00
R9708:Abcc1	UTSW	16	14,254,417 (GRCm39)	missense	probably damaging	1.00
R9725:Abcc1	UTSW	16	14,290,797 (GRCm39)	missense	possibly damaging	0.52
R9786:Abcc1	UTSW	16	14,222,927 (GRCm39)	missense	probably damaging	1.00
X0026:Abcc1	UTSW	16	14,277,766 (GRCm39)	missense	possibly damaging	0.94
Z1088:Abcc1	UTSW	16	14,228,673 (GRCm39)	missense	probably benign	0.01
Z1177:Abcc1	UTSW	16	14,229,357 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTGAAAGACCTAGTGGAATCAG -3'
(R):5'- TGCAGTCTCCCTAGAACCAG -3'

Sequencing Primer
(F):5'- CCTAGTGGAATCAGCCAATTGATAGC -3'
(R):5'- CAGAACCAGTCACAGTGGCTAAG -3'

Posted On

2019-06-07