Mutagenetix > Incidental Mutation

Incidental Mutation 'R5459:Abcc6'

432927

Institutional Source

Beutler Lab

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Synonyms

Mrp6, DCC, Dyscalc1

MMRRC Submission

043022-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R5459 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45982183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1223 (N1223S)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: N1223S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: N1223S

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

probably benign
Transcript: ENSMUST00000211220

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	C	T	17: 23,711,843 (GRCm38)		probably benign	Het
2300002M23Rik	A	G	17: 35,568,182 (GRCm38)	E139G	possibly damaging	Het
4931408C20Rik	A	C	1: 26,685,191 (GRCm38)	S303A	probably damaging	Het
Adamts3	A	T	5: 89,691,473 (GRCm38)		probably null	Het
Aloxe3	T	A	11: 69,132,828 (GRCm38)	F259Y	possibly damaging	Het
Armc9	G	A	1: 86,207,972 (GRCm38)	R550Q	probably damaging	Het
Ctnnd2	A	G	15: 30,887,188 (GRCm38)	D787G	probably damaging	Het
Dnah7b	A	G	1: 46,109,312 (GRCm38)	I283V	probably null	Het
Ebf2	A	G	14: 67,235,201 (GRCm38)	M23V	probably benign	Het
Fbxw11	T	C	11: 32,739,191 (GRCm38)	V438A	possibly damaging	Het
Fcrla	G	A	1: 170,918,169 (GRCm38)	T348M	possibly damaging	Het
Gpr179	A	T	11: 97,336,657 (GRCm38)	H1557Q	probably benign	Het
Gpr87	A	G	3: 59,179,727 (GRCm38)	V119A	possibly damaging	Het
Hfm1	A	G	5: 106,904,763 (GRCm38)	S285P	probably damaging	Het
Hs3st5	T	C	10: 36,828,746 (GRCm38)	V15A	possibly damaging	Het
Hyal5	C	T	6: 24,891,251 (GRCm38)	H355Y	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Map4k3	T	A	17: 80,609,787 (GRCm38)	N587Y	probably damaging	Het
Mcm3ap	T	A	10: 76,496,482 (GRCm38)	L1211*	probably null	Het
Mcmdc2	A	G	1: 9,937,084 (GRCm38)	I620V	probably benign	Het
Micalcl	C	T	7: 112,382,237 (GRCm38)	H539Y	probably benign	Het
Myo9a	T	C	9: 59,884,520 (GRCm38)	L1802P	probably damaging	Het
Neto2	T	A	8: 85,670,483 (GRCm38)	I47F	probably benign	Het
Olfr1443	A	G	19: 12,680,435 (GRCm38)	E109G	probably damaging	Het
Oog3	G	A	4: 144,159,245 (GRCm38)	T261I	probably benign	Het
Pdilt	A	G	7: 119,486,935 (GRCm38)	L519P	probably benign	Het
Pnpla6	A	T	8: 3,535,829 (GRCm38)	M844L	probably benign	Het
Polk	C	T	13: 96,495,476 (GRCm38)	G250R	probably damaging	Het
Rasal2	A	G	1: 157,157,661 (GRCm38)	S839P	probably damaging	Het
Siae	T	C	9: 37,616,823 (GRCm38)	Y31H	probably damaging	Het
Slc27a2	T	C	2: 126,580,992 (GRCm38)	V379A	probably damaging	Het
Snx9	C	T	17: 5,920,638 (GRCm38)	T418M	probably damaging	Het
Srp72	A	G	5: 76,984,338 (GRCm38)	T258A	probably benign	Het
Tango6	T	A	8: 106,850,289 (GRCm38)	D1058E	probably damaging	Het
Tecpr1	T	A	5: 144,207,416 (GRCm38)	Y656F	probably damaging	Het
Tnik	T	A	3: 28,661,741 (GRCm38)	I1168K	probably damaging	Het
Togaram1	A	G	12: 64,967,736 (GRCm38)	E587G	probably damaging	Het
Tyw1	A	C	5: 130,274,706 (GRCm38)	D305A	probably damaging	Het
Vmn1r19	T	A	6: 57,404,490 (GRCm38)	Y9*	probably null	Het
Zkscan3	A	T	13: 21,394,812 (GRCm38)	V142E	probably damaging	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	46,002,672 (GRCm38)	splice site	probably benign
IGL01731:Abcc6	APN	7	46,002,610 (GRCm38)	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45,996,814 (GRCm38)	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45,990,281 (GRCm38)	splice site	probably benign
IGL01895:Abcc6	APN	7	46,029,058 (GRCm38)	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45,986,573 (GRCm38)	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45,977,416 (GRCm38)	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	46,001,061 (GRCm38)	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	46,005,262 (GRCm38)	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	46,016,432 (GRCm38)	missense	probably benign
IGL03092:Abcc6	APN	7	45,986,470 (GRCm38)	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45,982,237 (GRCm38)	unclassified	probably benign
R0057:Abcc6	UTSW	7	46,020,143 (GRCm38)	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	46,015,505 (GRCm38)	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	46,014,107 (GRCm38)	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45,985,253 (GRCm38)	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	46,016,504 (GRCm38)	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	46,005,244 (GRCm38)	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45,992,357 (GRCm38)	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	46,014,169 (GRCm38)	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	46,020,134 (GRCm38)	splice site	probably null
R1909:Abcc6	UTSW	7	46,020,134 (GRCm38)	splice site	probably null
R2138:Abcc6	UTSW	7	45,981,051 (GRCm38)	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45,998,741 (GRCm38)	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	46,015,575 (GRCm38)	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45,995,289 (GRCm38)	missense	probably benign
R4013:Abcc6	UTSW	7	46,018,680 (GRCm38)	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45,986,563 (GRCm38)	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45,986,563 (GRCm38)	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45,986,563 (GRCm38)	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45,998,832 (GRCm38)	splice site	probably benign
R4385:Abcc6	UTSW	7	45,995,328 (GRCm38)	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	46,002,607 (GRCm38)	missense	probably benign
R4479:Abcc6	UTSW	7	46,005,239 (GRCm38)	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	46,005,239 (GRCm38)	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45,996,691 (GRCm38)	missense	probably benign
R4791:Abcc6	UTSW	7	45,982,160 (GRCm38)	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45,980,990 (GRCm38)	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45,989,687 (GRCm38)	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45,995,225 (GRCm38)	missense	probably benign
R4941:Abcc6	UTSW	7	46,012,523 (GRCm38)	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	46,020,154 (GRCm38)	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45,989,646 (GRCm38)	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45,981,059 (GRCm38)	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45,992,311 (GRCm38)	missense	probably benign	0.01
R5543:Abcc6	UTSW	7	45,989,536 (GRCm38)	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	46,029,044 (GRCm38)	missense	probably benign
R6228:Abcc6	UTSW	7	46,030,256 (GRCm38)	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45,977,379 (GRCm38)	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45,981,057 (GRCm38)	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	46,005,522 (GRCm38)	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	46,018,690 (GRCm38)	missense	probably benign
R7553:Abcc6	UTSW	7	45,999,121 (GRCm38)	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45,995,237 (GRCm38)	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45,977,392 (GRCm38)	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	46,005,606 (GRCm38)	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45,976,853 (GRCm38)	nonsense	probably null
R7896:Abcc6	UTSW	7	45,977,379 (GRCm38)	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45,996,665 (GRCm38)	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45,980,025 (GRCm38)	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45,985,145 (GRCm38)	missense	probably benign
R8784:Abcc6	UTSW	7	46,002,601 (GRCm38)	missense	probably benign
R8802:Abcc6	UTSW	7	46,008,859 (GRCm38)	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45,999,007 (GRCm38)	missense	possibly damaging	0.67
R9006:Abcc6	UTSW	7	46,016,396 (GRCm38)	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45,979,760 (GRCm38)	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	46,016,468 (GRCm38)	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45,979,773 (GRCm38)	missense	probably damaging	1.00
R9535:Abcc6	UTSW	7	45,977,263 (GRCm38)	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45,990,341 (GRCm38)	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45,979,935 (GRCm38)	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	46,020,236 (GRCm38)	nonsense	probably null
X0065:Abcc6	UTSW	7	46,020,197 (GRCm38)	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45,992,306 (GRCm38)	critical splice donor site	probably null
Z1176:Abcc6	UTSW	7	45,979,734 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACTATTGCTGCCACAATGG -3'
(R):5'- TGAGAGAGTCACCTGCTTGCTC -3'

Sequencing Primer
(F):5'- ACAATGGCTGTGACTCCAG -3'
(R):5'- ATGCACTGTCTTATTAGCCAAGC -3'

Posted On

2016-10-06