Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01942:Abcc6'

180896

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 #

IGL01942

Quality Score

Status

Chromosome

Chromosomal Location

45625804-45679915 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45635997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1017 (R1017W)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002850
AA Change: R1017W

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: R1017W

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef26	A	G	3: 62,247,515 (GRCm39)	R200G	probably benign	Het
Arid4b	A	T	13: 14,310,749 (GRCm39)		probably benign	Het
Atp1a2	A	C	1: 172,113,876 (GRCm39)	S369A	probably benign	Het
Bag3	T	A	7: 128,148,024 (GRCm39)	D546E	probably benign	Het
Bcl6b	T	A	11: 70,117,569 (GRCm39)	Y379F	probably damaging	Het
Cbln2	T	C	18: 86,734,450 (GRCm39)	V136A	probably benign	Het
Ccnf	A	T	17: 24,461,294 (GRCm39)	D120E	probably benign	Het
Cd14	T	A	18: 36,858,693 (GRCm39)	H254L	possibly damaging	Het
Chd3	A	G	11: 69,240,931 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,692 (GRCm39)	R150H	probably benign	Het
Dhx35	T	C	2: 158,673,784 (GRCm39)	L405P	probably damaging	Het
Dpf1	G	A	7: 29,015,927 (GRCm39)	C383Y	probably damaging	Het
Dse	T	A	10: 34,031,989 (GRCm39)	Q345L	probably benign	Het
Gnaz	A	G	10: 74,850,706 (GRCm39)	M244V	probably damaging	Het
Gpr65	A	T	12: 98,241,974 (GRCm39)	Y209F	possibly damaging	Het
Inpp5f	T	C	7: 128,269,493 (GRCm39)	I281T	probably damaging	Het
Kntc1	T	C	5: 123,916,330 (GRCm39)	F721S	probably damaging	Het
Mapk8ip2	G	A	15: 89,341,220 (GRCm39)		probably null	Het
Med24	G	A	11: 98,600,508 (GRCm39)	R646W	probably damaging	Het
Nup98	A	T	7: 101,843,918 (GRCm39)	F102Y	probably damaging	Het
Or1n2	A	G	2: 36,797,869 (GRCm39)	M304V	probably benign	Het
Or4c35	G	T	2: 89,808,322 (GRCm39)	V67L	probably benign	Het
Or8g50	A	T	9: 39,648,962 (GRCm39)	M284L	possibly damaging	Het
Pgap3	T	C	11: 98,288,780 (GRCm39)	Y125C	probably damaging	Het
Rasl12	T	C	9: 65,315,644 (GRCm39)	V96A	probably damaging	Het
Rbm20	G	A	19: 53,801,874 (GRCm39)	M127I	probably damaging	Het
Rnf114	T	A	2: 167,354,546 (GRCm39)		probably null	Het
Serpinb1b	C	T	13: 33,269,294 (GRCm39)	T9I	possibly damaging	Het
Setd1b	T	A	5: 123,301,489 (GRCm39)	F16I	possibly damaging	Het
Slc25a28	A	G	19: 43,652,947 (GRCm39)	F238S	probably damaging	Het
Slc2a2	T	C	3: 28,759,952 (GRCm39)	V30A	probably damaging	Het
Slc35f4	T	C	14: 49,762,962 (GRCm39)		probably benign	Het
Socs4	T	A	14: 47,528,107 (GRCm39)	C347*	probably null	Het
Spock1	C	T	13: 57,578,141 (GRCm39)	E367K	probably damaging	Het
Ubap2	C	T	4: 41,251,608 (GRCm39)	R8H	probably benign	Het
Vmn1r44	T	A	6: 89,870,806 (GRCm39)	M41K	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp575	T	C	7: 24,285,240 (GRCm39)	T134A	possibly damaging	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
IGL02251:Abcc6	APN	7	45,626,840 (GRCm39)	missense	probably damaging	1.00
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

2014-05-07