Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03241:Abcc12'

414282

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc12

Ensembl Gene

ENSMUSG00000036872

Gene Name

ATP-binding cassette, sub-family C member 12

Synonyms

MRP9, 4930467B22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL03241

Quality Score

Status

Chromosome

Chromosomal Location

87231197-87307317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87236436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 1126 (E1126V)

Ref Sequence

ENSEMBL: ENSMUSP00000122402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080115] [ENSMUST00000129898] [ENSMUST00000131423] [ENSMUST00000131806] [ENSMUST00000156610]

AlphaFold

Q80WJ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080115
AA Change: E1126V

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

SMART Domains

Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: E1126V

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	3.6e-19	PFAM
AAA	506	679	3.33e-13	SMART
low complexity region	739	752	N/A	INTRINSIC
Pfam:ABC_membrane	791	1079	1.3e-26	PFAM
AAA	1153	1346	1.07e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129898

SMART Domains

Protein: ENSMUSP00000122577
Gene: ENSMUSG00000036872

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.2e-19	PFAM
AAA	506	679	3.33e-13	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131423
AA Change: E1126V

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

SMART Domains

Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: E1126V

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.1e-21	PFAM
AAA	506	679	3.33e-13	SMART
low complexity region	739	752	N/A	INTRINSIC
Pfam:ABC_membrane	792	1077	1.6e-34	PFAM
AAA	1153	1346	1.07e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131806

SMART Domains

Protein: ENSMUSP00000116866
Gene: ENSMUSG00000036872

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.3e-19	PFAM
AAA	506	679	3.33e-13	SMART
low complexity region	739	752	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000156066
AA Change: E411V

SMART Domains

Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: E411V

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:ABC_membrane	78	363	3.8e-35	PFAM
Pfam:ABC_tran	430	508	5.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156610

SMART Domains

Protein: ENSMUSP00000123578
Gene: ENSMUSG00000036872

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	5.9e-20	PFAM
AAA	506	661	1.07e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	A	G	4: 49,447,702 (GRCm39)	V275A	probably benign	Het
Adamts15	G	A	9: 30,815,781 (GRCm39)	P692S	probably damaging	Het
Aqp7	A	T	4: 41,045,270 (GRCm39)		probably benign	Het
Arhgap26	A	T	18: 39,362,970 (GRCm39)	I413F	probably damaging	Het
Cdc25a	T	C	9: 109,713,267 (GRCm39)		probably null	Het
Cdh18	C	T	15: 23,227,019 (GRCm39)	T160I	probably benign	Het
Cfap206	T	C	4: 34,711,553 (GRCm39)	Y448C	probably damaging	Het
Clec4a4	T	C	6: 122,967,332 (GRCm39)	S3P	probably damaging	Het
Dhx38	A	T	8: 110,289,288 (GRCm39)	H37Q	possibly damaging	Het
F7	A	T	8: 13,078,779 (GRCm39)	E70V	probably damaging	Het
Nbeal1	A	T	1: 60,274,027 (GRCm39)	Q418H	possibly damaging	Het
Nbeal1	G	A	1: 60,274,028 (GRCm39)	E419K	probably benign	Het
Nebl	A	G	2: 17,397,975 (GRCm39)		probably null	Het
Or4k15b	T	A	14: 50,272,525 (GRCm39)	M112L	possibly damaging	Het
Pfkm	T	C	15: 98,021,061 (GRCm39)	V293A	probably benign	Het
Slc36a3	A	G	11: 55,015,934 (GRCm39)	S407P	possibly damaging	Het
Slc5a1	T	C	5: 33,290,749 (GRCm39)	V111A	probably benign	Het
St6galnac5	G	T	3: 152,552,223 (GRCm39)	Q115K	probably benign	Het
Tex56	G	T	13: 35,128,313 (GRCm39)	A177S	probably damaging	Het
Timmdc1	G	A	16: 38,331,071 (GRCm39)		probably benign	Het
Trim34b	T	C	7: 103,983,820 (GRCm39)		probably benign	Het
Trim75	A	T	8: 65,435,358 (GRCm39)	I364N	probably damaging	Het
Vmn1r27	T	A	6: 58,192,126 (GRCm39)	N293Y	probably benign	Het
Vmn2r88	A	G	14: 51,655,830 (GRCm39)	T689A	probably benign	Het
Vmn2r97	T	C	17: 19,148,438 (GRCm39)	V111A	probably benign	Het
Zfp114	C	T	7: 23,880,437 (GRCm39)	T261I	probably benign	Het
Zfp516	A	G	18: 83,005,645 (GRCm39)	T850A	probably benign	Het

Other mutations in Abcc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Abcc12	APN	8	87,261,322 (GRCm39)	missense	probably benign	0.45
IGL01504:Abcc12	APN	8	87,284,231 (GRCm39)	missense	probably damaging	1.00
IGL01593:Abcc12	APN	8	87,284,279 (GRCm39)	missense	probably damaging	1.00
IGL02164:Abcc12	APN	8	87,254,033 (GRCm39)	missense	probably damaging	1.00
IGL02173:Abcc12	APN	8	87,293,071 (GRCm39)	missense	probably damaging	1.00
IGL02175:Abcc12	APN	8	87,261,642 (GRCm39)	splice site	probably null
IGL02405:Abcc12	APN	8	87,284,782 (GRCm39)	missense	probably damaging	0.98
IGL02620:Abcc12	APN	8	87,231,943 (GRCm39)	splice site	probably null
IGL02635:Abcc12	APN	8	87,236,311 (GRCm39)	splice site	probably benign
PIT4544001:Abcc12	UTSW	8	87,231,875 (GRCm39)	missense	possibly damaging	0.58
R0023:Abcc12	UTSW	8	87,264,962 (GRCm39)	missense	probably damaging	1.00
R0023:Abcc12	UTSW	8	87,264,962 (GRCm39)	missense	probably damaging	1.00
R0116:Abcc12	UTSW	8	87,261,627 (GRCm39)	missense	probably benign	0.00
R0131:Abcc12	UTSW	8	87,258,197 (GRCm39)	missense	probably benign
R0131:Abcc12	UTSW	8	87,258,197 (GRCm39)	missense	probably benign
R0132:Abcc12	UTSW	8	87,258,197 (GRCm39)	missense	probably benign
R0308:Abcc12	UTSW	8	87,284,381 (GRCm39)	splice site	probably benign
R0589:Abcc12	UTSW	8	87,287,101 (GRCm39)	missense	possibly damaging	0.86
R1451:Abcc12	UTSW	8	87,284,322 (GRCm39)	missense	probably damaging	1.00
R1564:Abcc12	UTSW	8	87,244,115 (GRCm39)	missense	probably benign	0.10
R1740:Abcc12	UTSW	8	87,236,400 (GRCm39)	missense	possibly damaging	0.78
R1740:Abcc12	UTSW	8	87,232,126 (GRCm39)	nonsense	probably null
R1970:Abcc12	UTSW	8	87,253,910 (GRCm39)	missense	probably benign	0.27
R2017:Abcc12	UTSW	8	87,290,617 (GRCm39)	missense	probably damaging	1.00
R2026:Abcc12	UTSW	8	87,284,862 (GRCm39)	missense	probably benign	0.30
R2402:Abcc12	UTSW	8	87,235,770 (GRCm39)	missense	probably damaging	1.00
R3085:Abcc12	UTSW	8	87,270,536 (GRCm39)	splice site	probably benign
R3115:Abcc12	UTSW	8	87,266,653 (GRCm39)	critical splice donor site	probably null
R3176:Abcc12	UTSW	8	87,233,495 (GRCm39)	missense	probably damaging	1.00
R3276:Abcc12	UTSW	8	87,233,495 (GRCm39)	missense	probably damaging	1.00
R3847:Abcc12	UTSW	8	87,280,020 (GRCm39)	missense	probably benign	0.05
R3911:Abcc12	UTSW	8	87,255,048 (GRCm39)	splice site	probably benign
R4031:Abcc12	UTSW	8	87,244,077 (GRCm39)	missense	probably damaging	1.00
R4297:Abcc12	UTSW	8	87,258,154 (GRCm39)	splice site	probably null
R4298:Abcc12	UTSW	8	87,258,154 (GRCm39)	splice site	probably null
R4299:Abcc12	UTSW	8	87,258,154 (GRCm39)	splice site	probably null
R4688:Abcc12	UTSW	8	87,275,323 (GRCm39)	missense	possibly damaging	0.46
R4810:Abcc12	UTSW	8	87,287,471 (GRCm39)	missense	probably damaging	1.00
R4863:Abcc12	UTSW	8	87,265,005 (GRCm39)	missense	probably damaging	1.00
R4892:Abcc12	UTSW	8	87,236,431 (GRCm39)	missense	probably benign	0.28
R5288:Abcc12	UTSW	8	87,293,168 (GRCm39)	missense	probably damaging	1.00
R5303:Abcc12	UTSW	8	87,236,415 (GRCm39)	missense	probably benign	0.15
R5332:Abcc12	UTSW	8	87,251,459 (GRCm39)	splice site	probably null
R5386:Abcc12	UTSW	8	87,244,118 (GRCm39)	missense	possibly damaging	0.82
R5457:Abcc12	UTSW	8	87,236,473 (GRCm39)	missense	probably benign	0.03
R5900:Abcc12	UTSW	8	87,293,149 (GRCm39)	missense	possibly damaging	0.90
R6035:Abcc12	UTSW	8	87,244,033 (GRCm39)	missense	probably damaging	0.98
R6035:Abcc12	UTSW	8	87,244,033 (GRCm39)	missense	probably damaging	0.98
R6291:Abcc12	UTSW	8	87,293,173 (GRCm39)	missense	possibly damaging	0.72
R6518:Abcc12	UTSW	8	87,235,718 (GRCm39)
R6677:Abcc12	UTSW	8	87,261,381 (GRCm39)	missense	possibly damaging	0.58
R7258:Abcc12	UTSW	8	87,287,486 (GRCm39)	missense	possibly damaging	0.94
R7411:Abcc12	UTSW	8	87,287,479 (GRCm39)	missense	possibly damaging	0.95
R7619:Abcc12	UTSW	8	87,293,182 (GRCm39)	missense	probably damaging	1.00
R7808:Abcc12	UTSW	8	87,234,568 (GRCm39)	missense	probably benign	0.03
R7828:Abcc12	UTSW	8	87,254,904 (GRCm39)	missense	probably benign	0.08
R7834:Abcc12	UTSW	8	87,284,859 (GRCm39)	missense	probably damaging	1.00
R7834:Abcc12	UTSW	8	87,258,179 (GRCm39)	missense	possibly damaging	0.81
R7939:Abcc12	UTSW	8	87,275,433 (GRCm39)	missense	probably damaging	1.00
R7989:Abcc12	UTSW	8	87,232,108 (GRCm39)	missense	probably benign	0.02
R8290:Abcc12	UTSW	8	87,238,911 (GRCm39)	missense	probably damaging	0.99
R8681:Abcc12	UTSW	8	87,231,908 (GRCm39)	missense	possibly damaging	0.74
R8795:Abcc12	UTSW	8	87,258,213 (GRCm39)	missense	possibly damaging	0.87
R8811:Abcc12	UTSW	8	87,280,023 (GRCm39)	missense	probably damaging	1.00
R8939:Abcc12	UTSW	8	87,243,947 (GRCm39)	missense	probably damaging	1.00
R8940:Abcc12	UTSW	8	87,287,440 (GRCm39)	missense	probably benign	0.45
R9711:Abcc12	UTSW	8	87,275,388 (GRCm39)	missense	probably damaging	1.00
X0027:Abcc12	UTSW	8	87,279,920 (GRCm39)	missense	probably damaging	0.99
Z1088:Abcc12	UTSW	8	87,286,908 (GRCm39)	splice site	probably null
Z1176:Abcc12	UTSW	8	87,277,230 (GRCm39)	missense	probably damaging	1.00
Z1177:Abcc12	UTSW	8	87,254,013 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02