Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00792:Abcc1'

13270

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: 0.125) question?

Stock #

IGL00792

Quality Score

Status

Chromosome

Chromosomal Location

14179317-14292743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14228790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 346 (I346V)

Ref Sequence

ENSEMBL: ENSMUSP00000115627 (fasta)

Gene Model

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

AlphaFold

O35379

Predicted Effect

probably benign
Transcript: ENSMUST00000100167
AA Change: I346V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097743
Gene: ENSMUSG00000023088
AA Change: I346V

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
AA Change: I346V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116714
Gene: ENSMUSG00000023088
AA Change: I346V

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
AA Change: I346V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122656
Gene: ENSMUSG00000023088
AA Change: I346V

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
AA Change: I346V

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115627
Gene: ENSMUSG00000023088
AA Change: I346V

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,944 (GRCm39)	Y157F	possibly damaging	Het
Adcy9	A	G	16: 4,106,403 (GRCm39)	F904L	probably damaging	Het
Ap1m1	A	G	8: 73,009,599 (GRCm39)	D369G	possibly damaging	Het
Atp23	A	T	10: 126,736,969 (GRCm39)		probably null	Het
Atp5pd	A	G	11: 115,308,675 (GRCm39)		probably null	Het
Btf3l4	G	A	4: 108,674,056 (GRCm39)	S153L	probably benign	Het
Carf	G	T	1: 60,165,168 (GRCm39)	V117L	possibly damaging	Het
Cntnap1	C	A	11: 101,069,792 (GRCm39)	N290K	probably benign	Het
Dgkb	G	A	12: 38,264,388 (GRCm39)		probably null	Het
Dmbt1	T	A	7: 130,699,337 (GRCm39)	C989S	possibly damaging	Het
Epb41l1	C	T	2: 156,366,939 (GRCm39)	R591C	probably damaging	Het
Fam219a	A	G	4: 41,521,684 (GRCm39)	V74A	probably benign	Het
Frrs1	T	A	3: 116,678,944 (GRCm39)		probably null	Het
Gm13547	A	T	2: 29,653,417 (GRCm39)	D85V	probably damaging	Het
Hipk1	G	T	3: 103,685,476 (GRCm39)	S46R	possibly damaging	Het
Ifih1	T	A	2: 62,476,214 (GRCm39)	R21W	probably damaging	Het
Ift43	A	T	12: 86,186,840 (GRCm39)	Q87L	probably null	Het
Itprid2	C	T	2: 79,487,807 (GRCm39)	A630V	probably benign	Het
Kcnn1	G	A	8: 71,307,360 (GRCm39)	L178F	probably benign	Het
Kel	G	T	6: 41,678,946 (GRCm39)	N172K	probably damaging	Het
Krtap3-2	A	T	11: 99,447,372 (GRCm39)	Y85*	probably null	Het
Lrrc49	A	G	9: 60,595,121 (GRCm39)	S8P	probably damaging	Het
Med23	T	C	10: 24,752,902 (GRCm39)	I20T	possibly damaging	Het
Pde4d	A	G	13: 110,071,929 (GRCm39)	K364E	possibly damaging	Het
Ppp2r3d	T	C	9: 101,088,500 (GRCm39)	K608E	possibly damaging	Het
Robo4	C	T	9: 37,319,507 (GRCm39)	L586F	probably damaging	Het
Rprd2	A	G	3: 95,692,416 (GRCm39)	S191P	probably benign	Het
Samhd1	A	T	2: 156,962,468 (GRCm39)	H242Q	probably damaging	Het
Slc30a9	T	A	5: 67,499,452 (GRCm39)	N283K	probably damaging	Het
Slc4a9	T	C	18: 36,672,649 (GRCm39)		probably benign	Het
Stk36	G	T	1: 74,650,276 (GRCm39)	L269F	probably benign	Het
Thop1	T	A	10: 80,914,433 (GRCm39)	L240*	probably null	Het
Tmem52b	T	A	6: 129,493,704 (GRCm39)	S106T	probably damaging	Het
Ttn	T	A	2: 76,555,970 (GRCm39)	D30345V	probably damaging	Het
Vtcn1	T	C	3: 100,795,663 (GRCm39)	V210A	probably damaging	Het
Zfp568	A	G	7: 29,714,497 (GRCm39)	R124G	probably benign	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
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
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

2012-12-06