Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Abcc6'

210051

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

039927-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.672) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 46020134 bp (GRCm38)

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: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011H14Rik	G	T	14: 49,226,575	D292E	probably damaging	Het
4931406P16Rik	T	A	7: 34,258,036	I59L	probably benign	Het
Abca8b	C	A	11: 109,957,098	L852F	possibly damaging	Het
Alg11	T	G	8: 22,065,568	C240G	probably damaging	Het
Aox1	A	G	1: 58,102,624	I1190V	probably damaging	Het
Apc2	T	G	10: 80,314,844	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,652,763	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,724,259	S865R	probably benign	Het
Ass1	T	A	2: 31,493,148	Y190*	probably null	Het
B4galnt3	A	T	6: 120,210,090		probably null	Het
Btnl10	C	A	11: 58,920,541	P230Q	possibly damaging	Het
C3	A	G	17: 57,209,489	Y1348H	probably damaging	Het
Cebpz	A	T	17: 78,934,907	Y439*	probably null	Het
Cic	C	A	7: 25,286,840	T1229K	probably damaging	Het
Clip4	T	C	17: 71,837,749	S524P	probably damaging	Het
Col6a3	A	C	1: 90,811,699	I269R	probably damaging	Het
Dbh	C	T	2: 27,181,494	T533I	possibly damaging	Het
Dcaf17	A	T	2: 71,060,369	R83*	probably null	Het
Dnah1	A	G	14: 31,262,558	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,631,562	D510E	probably benign	Het
Dock6	A	G	9: 21,841,629	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,227,455	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,510,817	G461V	possibly damaging	Het
Epg5	T	A	18: 77,959,032	D555E	probably benign	Het
Fes	T	C	7: 80,386,861	R113G	probably damaging	Het
Gm10684	A	G	9: 45,110,213		probably benign	Het
Gm12185	T	C	11: 48,915,404	E320G	probably benign	Het
Gm14412	G	T	2: 177,315,476	H209N	probably damaging	Het
Gm14412	A	C	2: 177,315,837	S88R	probably benign	Het
Grhl1	T	A	12: 24,608,556	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,773,684	Y216*	probably null	Het
Hephl1	A	C	9: 15,074,124	Y745*	probably null	Het
Hmcn2	T	G	2: 31,411,910		probably null	Het
Hs3st6	A	G	17: 24,758,136	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,529,511	V9I	probably benign	Het
Jakmip2	T	C	18: 43,567,144	T450A	probably benign	Het
Lrp4	T	A	2: 91,498,408	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,457,841	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,083,834	I58F	probably benign	Het
Mga	T	A	2: 119,926,594	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,222	V1499E	probably damaging	Het
Myom2	G	T	8: 15,081,023	D320Y	probably damaging	Het
Olfr1220	G	A	2: 89,097,544	P128S	probably damaging	Het
Olfr1395	A	C	11: 49,148,274	N6H	possibly damaging	Het
Olfr458	C	T	6: 42,460,426	V198M	probably benign	Het
Olfr60	T	C	7: 140,345,465	I175V	probably benign	Het
Olfr74	A	T	2: 87,974,059	V202D	possibly damaging	Het
Olfr740	T	A	14: 50,453,838	M262K	probably damaging	Het
Pabpc4	G	T	4: 123,289,068	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,355,962	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,982,191	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,469,567	A239P	probably damaging	Het
Prdm15	G	T	16: 97,837,685	D58E	probably benign	Het
Rgl2	A	G	17: 33,932,148	T117A	probably benign	Het
Rp1	A	G	1: 4,348,720	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,241,277	E233G	probably damaging	Het
Skint6	T	A	4: 112,891,990	S798C	probably benign	Het
Slc35f1	T	C	10: 53,021,904	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,656,308	N246S	probably damaging	Het
Slc7a2	T	C	8: 40,916,497	L663S	probably benign	Het
Slco1a4	A	G	6: 141,815,447		probably null	Het
Slit2	A	G	5: 48,281,988	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863	I227T	probably damaging	Het
Smg1	A	G	7: 118,154,199		probably benign	Het
Ssu2	A	T	6: 112,384,427	L23M	probably benign	Het
St5	G	A	7: 109,525,326	Q686*	probably null	Het
Syne2	A	G	12: 76,094,279		probably null	Het
Tekt1	T	C	11: 72,351,935	T249A	probably benign	Het
Tfr2	T	C	5: 137,571,692	V120A	probably benign	Het
Thsd7b	C	T	1: 129,678,109	P529L	probably damaging	Het
Tll1	C	T	8: 64,025,107	D871N	probably damaging	Het
Tlr11	A	C	14: 50,361,207	I217L	probably benign	Het
Tmem87b	T	A	2: 128,831,559	V241D	probably damaging	Het
Tshz2	T	A	2: 169,885,545	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,041	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 85,234,052	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,952,442	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,797,570	T724A	probably benign	Het
Wdr11	T	C	7: 129,605,230	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,216,220	D379E	probably damaging	Het
Zfp78	C	T	7: 6,378,898	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,171,548	M1R	probably null	Het
Zkscan8	G	A	13: 21,525,155	P191L	probably 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
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
R7798:Abcc6	UTSW	7	45976853	nonsense	probably null
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'- TGCACATCCGCATATGCAC -3'
(R):5'- AGCCTGGCTTGCTCCAATAG -3'

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

Posted On

2014-06-30