Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Abcc6'

654298

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

067825-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45980025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1293 (V1293M)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: V1293M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: V1293M

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: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,613,456	V1090A	probably benign	Het
2410089E03Rik	A	G	15: 8,201,151	I971V	probably benign	Het
Agt	A	G	8: 124,563,798	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,713,099	N457K	probably benign	Het
Bcl3	G	T	7: 19,820,157	H95Q	probably benign	Het
C1d	T	A	11: 17,263,662	N64K	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd300c2	C	T	11: 115,000,640	S136N	probably benign	Het
Cdh8	A	G	8: 99,031,040	V642A	possibly damaging	Het
Cep290	A	T	10: 100,495,844	I180F	possibly damaging	Het
Copz2	A	G	11: 96,854,061	E86G	probably damaging	Het
Csf3r	A	T	4: 126,029,919	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,838,940	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,375,667	Q580R	probably damaging	Het
Dnaic2	A	T	11: 114,754,449	K570M	unknown	Het
Dock8	A	G	19: 25,155,917	K1143E	probably benign	Het
Dxo	T	C	17: 34,839,123	S394P	probably benign	Het
Etl4	A	G	2: 20,806,166	D1388G	probably benign	Het
F13a1	C	A	13: 37,025,718	R91L	probably damaging	Het
Fam35a	A	C	14: 34,267,985	N321K	probably benign	Het
Fam50b	C	T	13: 34,746,873	R111*	probably null	Het
Fat2	T	G	11: 55,311,709	N180H	probably damaging	Het
Fitm2	A	T	2: 163,469,848	H148Q	probably benign	Het
Fjx1	A	T	2: 102,450,811	S260T	possibly damaging	Het
Fos	T	C	12: 85,475,692	L165P	probably damaging	Het
Gm39115	C	A	7: 142,135,973	C21F	unknown	Het
Gucy1a1	C	T	3: 82,097,693	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,329,109	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,928,744	K9N	probably damaging	Het
Ireb2	T	C	9: 54,903,981	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,519,348	V2580I	probably damaging	Het
Kcnu1	G	A	8: 25,892,064	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Klra8	A	G	6: 130,128,093	V23A	probably damaging	Het
Lig4	A	G	8: 9,973,777	M1T	probably null	Het
Lpin3	C	T	2: 160,895,353	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,375,855	K1100*	probably null	Het
Obscn	G	A	11: 59,038,874	H5172Y	probably damaging	Het
Olfr1181	A	G	2: 88,423,401	I208T	probably benign	Het
Olfr1348	T	A	7: 6,501,735	T170S	probably damaging	Het
Olfr290	C	T	7: 84,916,579	H267Y	probably benign	Het
Olfr512	T	A	7: 108,714,211	M286K	possibly damaging	Het
Olfr892-ps1	A	T	9: 38,190,202	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173	L298P	probably damaging	Het
Otub1	A	G	19: 7,199,995	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,686,642	S156P	probably benign	Het
Pde3b	A	G	7: 114,526,894	M788V	probably damaging	Het
Pias4	A	G	10: 81,157,010		probably null	Het
Polg	A	G	7: 79,464,995	C73R	probably benign	Het
Ptbp2	T	C	3: 119,747,818	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,493,629	F175I	probably damaging	Het
Rfx1	A	G	8: 84,079,886	T108A	probably benign	Het
Ribc2	A	G	15: 85,135,260	D81G	probably benign	Het
Rnf213	T	G	11: 119,449,323	M3460R		Het
Rsf1	T	A	7: 97,616,896	S86T		Het
Rxfp2	C	A	5: 150,049,603	T181N	possibly damaging	Het
Samm50	G	A	15: 84,210,501	E365K	possibly damaging	Het
Slc22a18	T	C	7: 143,497,386	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,133,441	C97S	probably benign	Het
Smchd1	T	A	17: 71,407,249	H873L	probably benign	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Sphkap	T	A	1: 83,278,232	I599F	probably benign	Het
Stox1	A	G	10: 62,665,764	V339A	probably damaging	Het
Tlx1	A	G	19: 45,153,597	E220G	probably damaging	Het
Tmem71	C	A	15: 66,541,572		probably null	Het
Tmprss3	T	C	17: 31,195,002	D56G	possibly damaging	Het
Trabd	A	G	15: 89,085,904	R368G	probably benign	Het
Trf	A	G	9: 103,217,476	I461T	probably damaging	Het
Trpm3	A	G	19: 22,698,862	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,295,383	V667I	possibly damaging	Het
Ttc30a1	T	C	2: 75,981,175	D188G	probably benign	Het
Vps13b	T	A	15: 35,455,100	N718K	probably benign	Het
Zdbf2	T	C	1: 63,306,007	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,576,892	D235G	probably benign	Het
Zfp407	T	C	18: 84,209,862	E1874G	probably damaging	Het
Zfp503	T	C	14: 21,986,209	K213R	probably benign	Het
Zkscan2	A	G	7: 123,485,428	V491A	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
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
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
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'- GGGCATACCATAGCTCCCTC -3'
(R):5'- CATGCTCAGTGGAGGGTGAG -3'

Sequencing Primer
(F):5'- CCCCCATCTCTCTCCAGGG -3'
(R):5'- ATGGAGGCACTTTCTCACCTGAAG -3'

Posted On

2020-10-20