Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Abcc1'

103719

Institutional Source

Australian Phenomics Network (link to record)

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: 0.164) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

14179317-14292743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14222883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 186 (M186K)

Ref Sequence

ENSEMBL: ENSMUSP00000120933 (fasta)

Gene Model

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

AlphaFold

O35379

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100167
AA Change: M228K

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: M228K

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: M228K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: M228K

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: M228K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: M228K

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 null
Transcript: ENSMUST00000134776
AA Change: M186K

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120933
Gene: ENSMUSG00000023088
AA Change: M186K

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

possibly damaging
Transcript: ENSMUST00000147759
AA Change: M228K

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: M228K

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

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Angel1	T	C	12: 86,763,800 (GRCm39)	E500G	probably benign	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	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
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
PIT4544001:Abcc1	UTSW	16	14,222,943 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-21