Mutagenetix > Incidental Mutation

Incidental Mutation 'R1909:Abcc6'

210154

Institutional Source

Beutler Lab

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C member 6

Synonyms

DCC, Mrp6, Dyscalc1

MMRRC Submission

039928-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R1909 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45625804-45679915 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 45669558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably null
Transcript: ENSMUST00000002850

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834

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

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.1%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	A	C	11: 101,301,057 (GRCm39)		probably null	Het
Abcc5	A	G	16: 20,195,259 (GRCm39)		probably null	Het
Adam15	C	A	3: 89,252,637 (GRCm39)	M317I	probably benign	Het
Ago3	T	C	4: 126,240,530 (GRCm39)	T111A	probably damaging	Het
Amz1	G	T	5: 140,738,216 (GRCm39)	S492I	probably benign	Het
Arid1a	T	C	4: 133,421,072 (GRCm39)	N911S	unknown	Het
Ascl2	C	A	7: 142,521,900 (GRCm39)	A115S	probably damaging	Het
Ash1l	T	C	3: 88,891,835 (GRCm39)	V1238A	probably benign	Het
Asxl2	G	T	12: 3,524,577 (GRCm39)	V202F	probably damaging	Het
Atp10a	A	T	7: 58,478,460 (GRCm39)	Q1501L	probably benign	Het
Avpr1a	A	T	10: 122,288,113 (GRCm39)	I374L	probably benign	Het
Bmal2	A	T	6: 146,712,308 (GRCm39)	E111V	probably benign	Het
Bmx	T	C	X: 163,022,411 (GRCm39)	H157R	probably benign	Het
Camk4	T	A	18: 33,291,869 (GRCm39)		probably null	Het
Ccdc103	G	A	11: 102,773,392 (GRCm39)	D5N	probably benign	Het
Ccdc186	A	T	19: 56,781,793 (GRCm39)	N70K	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cfap206	A	C	4: 34,722,714 (GRCm39)	S122R	probably benign	Het
Cnst	T	C	1: 179,450,356 (GRCm39)	S607P	probably damaging	Het
Col8a2	C	A	4: 126,205,926 (GRCm39)	D645E	possibly damaging	Het
Cpsf4l	A	T	11: 113,594,204 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,620,556 (GRCm39)	T332I	probably benign	Het
Csmd1	A	T	8: 15,956,116 (GRCm39)	Y3364N	probably damaging	Het
D5Ertd579e	A	T	5: 36,771,402 (GRCm39)	S998T	probably benign	Het
Dab2ip	C	G	2: 35,608,827 (GRCm39)	A587G	probably damaging	Het
Dach1	C	T	14: 98,138,829 (GRCm39)	G486D	probably damaging	Het
Ddx24	T	C	12: 103,376,241 (GRCm39)	I752V	probably damaging	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dhx33	A	G	11: 70,879,933 (GRCm39)	V359A	probably benign	Het
Dip2c	A	T	13: 9,583,386 (GRCm39)	T123S	probably benign	Het
Dync1h1	G	A	12: 110,629,063 (GRCm39)	E4207K	probably damaging	Het
Eef1b2	G	T	1: 63,216,431 (GRCm39)	D21Y	probably damaging	Het
Eif3b	T	C	5: 140,418,692 (GRCm39)	S462P	probably damaging	Het
Elmod2	G	C	8: 84,042,998 (GRCm39)	R277G	probably benign	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Ercc8	A	T	13: 108,312,100 (GRCm39)	K172*	probably null	Het
Fat3	T	C	9: 15,909,411 (GRCm39)	N2197S	probably benign	Het
Fbf1	A	G	11: 116,036,818 (GRCm39)	V972A	possibly damaging	Het
Fcgbpl1	T	C	7: 27,843,773 (GRCm39)	V887A	possibly damaging	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Fzd1	G	T	5: 4,807,481 (GRCm39)	H34N	probably benign	Het
Galnt17	T	A	5: 131,140,676 (GRCm39)	Y147F	probably benign	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gdf6	T	C	4: 9,859,971 (GRCm39)	L351P	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gm2381	A	T	7: 42,469,352 (GRCm39)	H257Q	probably damaging	Het
Hivep1	A	T	13: 42,309,122 (GRCm39)	K454M	probably benign	Het
Hmmr	T	A	11: 40,598,925 (GRCm39)	E566D	probably damaging	Het
Hydin	T	G	8: 111,314,404 (GRCm39)	V4296G	probably damaging	Het
Il18r1	T	A	1: 40,514,074 (GRCm39)	D93E	probably damaging	Het
Iqgap1	T	C	7: 80,393,576 (GRCm39)	D667G	probably benign	Het
Lama3	T	C	18: 12,714,855 (GRCm39)	I3278T	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Mdn1	CGGAGGAGGAGGAGGAG	CGGAGGAGGAGGAG	4: 32,760,839 (GRCm39)		probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Ncoa7	A	T	10: 30,565,796 (GRCm39)	M666K	probably damaging	Het
Ndnf	T	G	6: 65,680,297 (GRCm39)	V192G	possibly damaging	Het
Nr4a1	T	A	15: 101,172,108 (GRCm39)	I594N	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2ag16	T	C	7: 106,352,202 (GRCm39)	N131S	probably benign	Het
Or4k44	T	A	2: 111,368,359 (GRCm39)	I92F	probably damaging	Het
Or51q1	G	A	7: 103,628,997 (GRCm39)	W199*	probably null	Het
Or52z13	A	G	7: 103,246,550 (GRCm39)	N9S	probably benign	Het
Paxbp1	T	C	16: 90,841,193 (GRCm39)		probably benign	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pcsk5	A	T	19: 17,410,825 (GRCm39)	Y1856N	probably benign	Het
Pde3a	T	C	6: 141,195,965 (GRCm39)	V217A	probably benign	Het
Phf11	A	T	14: 59,496,062 (GRCm39)	S17R	probably benign	Het
Pira13	A	T	7: 3,825,918 (GRCm39)	I317N	probably benign	Het
Pirb	A	T	7: 3,717,587 (GRCm39)	D674E	probably benign	Het
Pnisr	T	A	4: 21,869,517 (GRCm39)	M335K	possibly damaging	Het
Pnpla7	T	A	2: 24,887,300 (GRCm39)	M48K	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkca	A	T	11: 107,830,438 (GRCm39)	D217E	possibly damaging	Het
Rac3	A	C	11: 120,614,163 (GRCm39)	I142L	probably benign	Het
Ralgapb	G	T	2: 158,286,595 (GRCm39)	A347S	probably damaging	Het
Rbm43	G	C	2: 51,815,446 (GRCm39)	S258R	possibly damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Rsph10b	T	C	5: 143,922,309 (GRCm39)	F409L	probably benign	Het
Ryr2	A	T	13: 11,715,235 (GRCm39)	L2778M	probably damaging	Het
Scn1a	T	C	2: 66,161,696 (GRCm39)	N284S	possibly damaging	Het
Scyl2	A	T	10: 89,476,767 (GRCm39)	M786K	probably benign	Het
Sema4g	C	A	19: 44,986,061 (GRCm39)	R301S	probably damaging	Het
Senp6	A	T	9: 80,021,056 (GRCm39)	E245D	possibly damaging	Het
Setx	T	C	2: 29,053,021 (GRCm39)	V2095A	possibly damaging	Het
Slc13a2	A	T	11: 78,290,968 (GRCm39)	M412K	possibly damaging	Het
Slc25a4	T	C	8: 46,662,437 (GRCm39)	N74D	probably damaging	Het
Slc28a1	T	A	7: 80,791,783 (GRCm39)	F316L	probably damaging	Het
Slfn8	G	A	11: 82,894,447 (GRCm39)	Q731*	probably null	Het
Slitrk4	A	G	X: 63,316,229 (GRCm39)	I146T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Smg8	G	T	11: 86,971,439 (GRCm39)	Y777*	probably null	Het
Smyd1	T	A	6: 71,216,563 (GRCm39)	K61N	probably benign	Het
Sod2	T	C	17: 13,234,056 (GRCm39)	*223R	probably null	Het
Sp6	G	T	11: 96,912,334 (GRCm39)	A16S	probably benign	Het
Spata31d1a	A	C	13: 59,850,509 (GRCm39)	Y540D	probably damaging	Het
Spatc1l	A	G	10: 76,399,751 (GRCm39)	D91G	probably damaging	Het
Spg7	A	G	8: 123,807,480 (GRCm39)	T419A	probably benign	Het
St8sia4	A	G	1: 95,555,298 (GRCm39)	I244T	probably damaging	Het
Tbl2	C	T	5: 135,181,845 (GRCm39)	R27W	probably damaging	Het
Tmed4	G	A	11: 6,224,694 (GRCm39)	P47L	probably damaging	Het
Tmsb10b	T	C	7: 24,561,731 (GRCm39)	I10T	possibly damaging	Het
Tmtc1	T	C	6: 148,345,546 (GRCm39)	D51G	possibly damaging	Het
Ttc28	T	C	5: 111,431,920 (GRCm39)		probably null	Het
Unc13d	A	G	11: 115,961,121 (GRCm39)	F412S	probably damaging	Het
Unc45b	A	C	11: 82,816,913 (GRCm39)	K451T	probably damaging	Het
Vmn2r16	A	G	5: 109,511,853 (GRCm39)	M687V	probably benign	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vps51	A	G	19: 6,119,499 (GRCm39)	V625A	probably benign	Het
Wapl	T	A	14: 34,413,869 (GRCm39)	W244R	probably damaging	Het
Wdr75	C	T	1: 45,862,563 (GRCm39)	T794I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCACATCCGCATATGCAC -3'
(R):5'- AGCCTGGCTTGCTCCAATAG -3'

Sequencing Primer
(F):5'- TCCGCATATGCACACAGC -3'
(R):5'- CAATAGCTGCTTTCCTGTAGC -3'

Posted On

2014-06-30