Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Abcc6'

600358

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R7798 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 45976853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1494 (E1494*)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably null
Transcript: ENSMUST00000002850
AA Change: E1494*

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: E1494*

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

probably benign
Transcript: ENSMUST00000211220

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,135,732	N128I	probably damaging	Het
5830473C10Rik	T	C	5: 90,597,511	S608P	possibly damaging	Het
Abca13	A	G	11: 9,291,664	T1176A	probably benign	Het
Abca9	A	G	11: 110,138,179	V851A	probably benign	Het
Adamts14	A	T	10: 61,271,173	V56E	probably damaging	Het
Adamts15	G	A	9: 30,904,643	T639M	probably damaging	Het
Arhgap11a	A	C	2: 113,843,335	V70G	probably damaging	Het
BC051665	A	T	13: 60,784,435	D113E	probably benign	Het
Best1	T	C	19: 9,991,671	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,978,399	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,477,348	Q1018K	probably benign	Het
Cfap74	T	A	4: 155,422,622	V180D		Het
Clca3a1	T	A	3: 144,757,962	T185S	probably damaging	Het
Clca3b	T	C	3: 144,828,130	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,753,948	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 34,804,321	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,312,416	E321G	probably benign	Het
Des	T	C	1: 75,362,359	I228T	probably damaging	Het
Dis3l	G	T	9: 64,341,017	P39T	probably benign	Het
Disp2	A	C	2: 118,791,879	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Etl4	G	A	2: 20,781,946		probably null	Het
Fgf23	A	T	6: 127,073,214	D62V	probably damaging	Het
Galnt15	C	T	14: 32,029,905	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,435,541		probably benign	Het
Gm28710	T	C	5: 16,856,658	F801L	possibly damaging	Het
Gm9573	C	G	17: 35,621,254	G680A	unknown	Het
Gpr180	T	A	14: 118,153,686	V209D	probably damaging	Het
Gzma	A	T	13: 113,096,324	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,117,371	C19S	probably benign	Het
Il1r1	G	A	1: 40,310,366	V361I	probably benign	Het
Intu	T	C	3: 40,691,929	V598A	probably damaging	Het
Itpr2	A	G	6: 146,386,015	F471L	probably benign	Het
Kntc1	T	A	5: 123,786,294	V1081E	probably benign	Het
Kntc1	T	A	5: 123,819,117	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,378,100	K6552E	probably damaging	Het
Marf1	T	C	16: 14,138,451	H842R	probably benign	Het
Mgat4b	A	G	11: 50,225,670	T10A	possibly damaging	Het
Muc5ac	T	C	7: 141,794,041		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 138,982,677		probably benign	Het
Nsun4	T	G	4: 116,051,174	S730R	possibly damaging	Het
Olfr1112	A	T	2: 87,192,292	I202L	probably benign	Het
Olfr1310	A	G	2: 112,008,272	F305L	probably benign	Het
Olfr351	T	C	2: 36,860,336	E4G	probably benign	Het
Olfr360	A	T	2: 37,069,174	S290C	probably damaging	Het
Olfr727	A	T	14: 50,127,438	Y287F	probably damaging	Het
Padi3	C	T	4: 140,786,439	E653K	probably benign	Het
Pde4a	A	G	9: 21,198,663	E280G	possibly damaging	Het
Phactr3	G	A	2: 178,283,910	R326H	probably benign	Het
Prob1	G	A	18: 35,653,344	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,295,375	R368W	probably damaging	Het
Rgs6	A	G	12: 83,069,519	T240A	probably benign	Het
Rpa1	A	T	11: 75,312,809	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,033,605	D165E	probably damaging	Het
Sco1	A	G	11: 67,053,802	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,647,189	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,816,802	W793R	probably damaging	Het
Slco3a1	A	G	7: 74,318,596	S459P	probably benign	Het
Smg1	A	T	7: 118,171,939	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,650,642	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,996,056	S613F	probably damaging	Het
Stab2	A	T	10: 86,957,912	Y440N	probably damaging	Het
Syn3	A	G	10: 86,080,253	Y290H	probably damaging	Het
Tex15	C	T	8: 33,581,847	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,987,332	F182S	probably benign	Het
Tmcc1	A	T	6: 116,043,578	S304R		Het
Tmem130	T	G	5: 144,743,770	K275Q	probably damaging	Het
Tmem9	C	A	1: 136,034,189	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,634,783	R233Q	probably damaging	Het
Twnk	T	C	19: 45,007,668	M180T	probably benign	Het
Ube4a	A	G	9: 44,933,331	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,327,723	N350S	probably damaging	Het
Vegfa	C	T	17: 46,031,835	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,134,097	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,946,322	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,946,984	F164S	probably damaging	Het
Zcchc6	A	T	13: 59,815,575	M323K	possibly damaging	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	46002672	splice site	probably benign
IGL01731:Abcc6	APN	7	46002610	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45996814	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45990281	splice site	probably benign
IGL01895:Abcc6	APN	7	46029058	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45986573	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45977416	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	46001061	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	46005262	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	46016432	missense	probably benign
IGL03092:Abcc6	APN	7	45986470	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45982237	unclassified	probably benign
R0057:Abcc6	UTSW	7	46020143	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	46015505	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	46014107	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45985253	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	46016504	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	46005244	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45992357	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	46014169	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	46020134	splice site	probably null
R1909:Abcc6	UTSW	7	46020134	splice site	probably null
R2138:Abcc6	UTSW	7	45981051	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45998741	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	46015575	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45995289	missense	probably benign
R4013:Abcc6	UTSW	7	46018680	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45998832	splice site	probably benign
R4385:Abcc6	UTSW	7	45995328	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	46002607	missense	probably benign
R4479:Abcc6	UTSW	7	46005239	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	46005239	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45996691	missense	probably benign
R4791:Abcc6	UTSW	7	45982160	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45980990	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45989687	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45995225	missense	probably benign
R4941:Abcc6	UTSW	7	46012523	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	46020154	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45989646	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45981059	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45992311	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45982183	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45989536	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	46029044	missense	probably benign
R6228:Abcc6	UTSW	7	46030256	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45977379	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45981057	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	46005522	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	46018690	missense	probably benign
R7553:Abcc6	UTSW	7	45999121	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45995237	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45977392	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	46005606	missense	probably damaging	1.00
R7896:Abcc6	UTSW	7	45977379	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45996665	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45980025	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45985145	missense	probably benign
R8784:Abcc6	UTSW	7	46002601	missense	probably benign
R8802:Abcc6	UTSW	7	46008859	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45999007	missense	possibly damaging	0.67
R9006:Abcc6	UTSW	7	46016396	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45979760	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	46016468	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45979773	missense	probably damaging	1.00
R9535:Abcc6	UTSW	7	45977263	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45990341	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45979935	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	46020236	nonsense	probably null
X0065:Abcc6	UTSW	7	46020197	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45979734	missense	probably damaging	1.00
Z1176:Abcc6	UTSW	7	45992306	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCATTCTCTTTGGCCTGGG -3'
(R):5'- TGGGAAGTCAGACATCTGGG -3'

Sequencing Primer
(F):5'- GGCATGGCCTTGCTCAG -3'
(R):5'- TCAGACATCTGGGGGAGTG -3'

Posted On

2019-11-26