Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02251:Abcc6'

286401

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C member 6

Synonyms

DCC, Mrp6, Dyscalc1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

IGL02251

Quality Score

Status

Chromosome

Chromosomal Location

45625804-45679915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45626840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1406 (C1406R)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002850]

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: C1406R

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

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: C1406R

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
transmembrane domain	81	100	N/A	INTRINSIC
transmembrane domain	110	129	N/A	INTRINSIC
transmembrane domain	142	161	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC
Pfam:ABC_membrane	309	580	3.5e-29	PFAM
AAA	653	828	1.19e-9	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:ABC_membrane	942	1211	2.5e-32	PFAM
AAA	1286	1473	1.71e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210962

Predicted Effect

unknown
Transcript: ENSMUST00000211220
AA Change: C107R

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The 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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,038,678 (GRCm39)		probably null	Het
Antxr2	A	C	5: 98,125,454 (GRCm39)		probably null	Het
Arhgef11	C	T	3: 87,590,854 (GRCm39)	R32C	probably damaging	Het
Armc6	A	T	8: 70,677,870 (GRCm39)	L153*	probably null	Het
Btnl2	G	T	17: 34,582,213 (GRCm39)	G260*	probably null	Het
Ccnf	A	G	17: 24,445,513 (GRCm39)	S551P	probably benign	Het
Cdh19	A	G	1: 110,882,382 (GRCm39)	S37P	probably benign	Het
Cntnap3	T	A	13: 64,909,850 (GRCm39)	T752S	probably damaging	Het
Crispld1	A	G	1: 17,799,064 (GRCm39)	M62V	probably benign	Het
Ddr1	G	A	17: 35,994,372 (GRCm39)	A801V	probably damaging	Het
Dner	G	T	1: 84,361,747 (GRCm39)	Q621K	probably damaging	Het
Dph6	A	G	2: 114,366,004 (GRCm39)		probably null	Het
Dpp3	T	G	19: 4,968,343 (GRCm39)	H243P	probably benign	Het
Eif3j2	T	A	18: 43,610,431 (GRCm39)	K127N	probably damaging	Het
Esrp1	G	A	4: 11,361,202 (GRCm39)	R315C	probably damaging	Het
Gm973	A	C	1: 59,621,582 (GRCm39)	H574P	probably benign	Het
Gprasp1	G	A	X: 134,701,288 (GRCm39)	V494I	probably benign	Het
Hbb-bh1	T	A	7: 103,492,017 (GRCm39)	K66*	probably null	Het
Hoxb9	T	A	11: 96,165,651 (GRCm39)	M240K	probably damaging	Het
Irf2	T	C	8: 47,260,788 (GRCm39)		probably null	Het
Lgi4	A	G	7: 30,766,688 (GRCm39)		probably null	Het
Mylk3	C	T	8: 86,081,805 (GRCm39)	V328M	probably benign	Het
Nf2	T	C	11: 4,798,873 (GRCm39)	E38G	probably null	Het
Or4k40	A	C	2: 111,250,657 (GRCm39)	L213R	probably damaging	Het
Or51l14	A	T	7: 103,100,978 (GRCm39)	K145*	probably null	Het
Pdpk1	A	G	17: 24,298,612 (GRCm39)	F346L	probably damaging	Het
Prex1	T	C	2: 166,419,806 (GRCm39)	Y1120C	probably damaging	Het
Rab3gap1	A	G	1: 127,865,237 (GRCm39)	T742A	probably benign	Het
Scai	A	T	2: 38,989,429 (GRCm39)	D401E	probably benign	Het
Scd1	T	C	19: 44,386,533 (GRCm39)	H298R	probably damaging	Het
Shld2	T	C	14: 33,990,235 (GRCm39)	R224G	probably benign	Het
Slc45a1	A	G	4: 150,723,176 (GRCm39)		probably benign	Het
Smim10l1	G	T	6: 133,082,471 (GRCm39)	R6L	probably damaging	Het
Spag5	T	G	11: 78,210,860 (GRCm39)	F921C	probably damaging	Het
Sun1	T	C	5: 139,227,186 (GRCm39)	S667P	probably damaging	Het
Tas2r124	A	G	6: 132,732,524 (GRCm39)	I278V	probably benign	Het
Thbs1	G	A	2: 117,943,999 (GRCm39)	D206N	probably benign	Het
Trim37	T	A	11: 87,058,256 (GRCm39)		probably benign	Het
Vcp	T	C	4: 42,988,728 (GRCm39)	T249A	possibly damaging	Het
Vmn2r103	A	G	17: 20,014,231 (GRCm39)	N341S	possibly damaging	Het
Zmat3	A	G	3: 32,399,732 (GRCm39)		probably benign	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	45,652,096 (GRCm39)	splice site	probably benign
IGL01731:Abcc6	APN	7	45,652,034 (GRCm39)	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45,646,238 (GRCm39)	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45,639,705 (GRCm39)	splice site	probably benign
IGL01895:Abcc6	APN	7	45,678,482 (GRCm39)	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45,635,997 (GRCm39)	missense	possibly damaging	0.89
IGL02277:Abcc6	APN	7	45,650,485 (GRCm39)	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	45,654,686 (GRCm39)	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	45,665,856 (GRCm39)	missense	probably benign
IGL03092:Abcc6	APN	7	45,635,894 (GRCm39)	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45,631,661 (GRCm39)	unclassified	probably benign
R0057:Abcc6	UTSW	7	45,669,567 (GRCm39)	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	45,664,929 (GRCm39)	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	45,663,531 (GRCm39)	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45,634,677 (GRCm39)	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	45,665,928 (GRCm39)	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	45,654,668 (GRCm39)	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45,641,781 (GRCm39)	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	45,663,593 (GRCm39)	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	45,669,558 (GRCm39)	splice site	probably null
R1909:Abcc6	UTSW	7	45,669,558 (GRCm39)	splice site	probably null
R2138:Abcc6	UTSW	7	45,630,475 (GRCm39)	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45,648,165 (GRCm39)	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	45,664,999 (GRCm39)	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45,644,713 (GRCm39)	missense	probably benign
R4013:Abcc6	UTSW	7	45,668,104 (GRCm39)	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45,635,987 (GRCm39)	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45,648,256 (GRCm39)	splice site	probably benign
R4385:Abcc6	UTSW	7	45,644,752 (GRCm39)	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	45,652,031 (GRCm39)	missense	probably benign
R4479:Abcc6	UTSW	7	45,654,663 (GRCm39)	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	45,654,663 (GRCm39)	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45,646,115 (GRCm39)	missense	probably benign
R4791:Abcc6	UTSW	7	45,631,584 (GRCm39)	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45,630,414 (GRCm39)	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45,639,111 (GRCm39)	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45,644,649 (GRCm39)	missense	probably benign
R4941:Abcc6	UTSW	7	45,661,947 (GRCm39)	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	45,669,578 (GRCm39)	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45,639,070 (GRCm39)	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45,630,483 (GRCm39)	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45,641,735 (GRCm39)	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45,631,607 (GRCm39)	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45,638,960 (GRCm39)	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	45,678,468 (GRCm39)	missense	probably benign
R6228:Abcc6	UTSW	7	45,679,680 (GRCm39)	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45,626,803 (GRCm39)	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45,630,481 (GRCm39)	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	45,654,946 (GRCm39)	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	45,668,114 (GRCm39)	missense	probably benign
R7553:Abcc6	UTSW	7	45,648,545 (GRCm39)	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45,644,661 (GRCm39)	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45,626,816 (GRCm39)	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	45,655,030 (GRCm39)	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45,626,277 (GRCm39)	nonsense	probably null
R7896:Abcc6	UTSW	7	45,626,803 (GRCm39)	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45,646,089 (GRCm39)	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45,629,449 (GRCm39)	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45,634,569 (GRCm39)	missense	probably benign
R8784:Abcc6	UTSW	7	45,652,025 (GRCm39)	missense	probably benign
R8802:Abcc6	UTSW	7	45,658,283 (GRCm39)	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45,648,431 (GRCm39)	missense	possibly damaging	0.67
R9006:Abcc6	UTSW	7	45,665,820 (GRCm39)	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45,629,184 (GRCm39)	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	45,665,892 (GRCm39)	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45,629,197 (GRCm39)	missense	probably damaging	1.00
R9535:Abcc6	UTSW	7	45,626,687 (GRCm39)	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45,639,765 (GRCm39)	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45,629,359 (GRCm39)	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	45,669,660 (GRCm39)	nonsense	probably null
X0065:Abcc6	UTSW	7	45,669,621 (GRCm39)	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45,641,730 (GRCm39)	critical splice donor site	probably null
Z1176:Abcc6	UTSW	7	45,629,158 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16