Mutagenetix > Incidental Mutations

Incidental Mutation 'R6178:Abcc6'

487873

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

044320-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.850) question?

Stock #

R6178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46029044 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 61 (I61V)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002850] [ENSMUST00000033121]

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: I61V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: I61V

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: ENSMUST00000033121

SMART Domains

Protein: ENSMUSP00000033121
Gene: ENSMUSG00000030835

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
internal_repeat_1	22	215	2.35e-7	PROSPERO
Pfam:CarboxypepD_reg	322	395	3.5e-12	PFAM
Pfam:DUF2012	331	401	5.7e-10	PFAM
low complexity region	709	732	N/A	INTRINSIC
low complexity region	881	893	N/A	INTRINSIC
Blast:FN3	913	1017	6e-22	BLAST
low complexity region	1156	1164	N/A	INTRINSIC
low complexity region	1203	1214	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (54/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	G	A	18: 67,409,528	T616I	possibly damaging	Het
Aktip	T	C	8: 91,126,043	N195S	probably damaging	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Atg7	T	A	6: 114,724,895	I621N	probably damaging	Het
Becn1	T	A	11: 101,291,510	I283F	probably damaging	Het
C4b	T	C	17: 34,733,406	T1220A	probably benign	Het
Celsr1	C	A	15: 85,901,021	R3004M	probably benign	Het
Clspn	A	T	4: 126,577,736		probably null	Het
Csmd3	T	C	15: 48,673,458	Y116C	probably damaging	Het
Dcp1a	T	G	14: 30,523,304	*603G	probably null	Het
Dmrtc1b	C	T	X: 102,713,563	P205S	possibly damaging	Het
Fev	G	T	1: 74,884,539		probably benign	Het
Fry	T	A	5: 150,454,522	V393E	probably damaging	Het
Gm30646	A	G	7: 30,432,656		probably null	Het
Gm36028	T	C	16: 37,856,060	Y115C	probably damaging	Het
Gm3676	C	T	14: 41,641,495	E175K	probably benign	Het
Gm4847	T	C	1: 166,642,336	Y56C	probably damaging	Het
Gm5422	T	C	10: 31,249,692		noncoding transcript	Het
Gstm6	A	G	3: 107,941,081	V174A	probably benign	Het
Isoc1	G	T	18: 58,671,592	V191F	possibly damaging	Het
Kalrn	T	A	16: 34,053,639	D132V	possibly damaging	Het
Kcp	T	C	6: 29,482,888	D1394G	possibly damaging	Het
March10	T	G	11: 105,389,614	D615A	probably damaging	Het
Mau2	A	G	8: 70,042,537	I50T	probably damaging	Het
Mgp	A	G	6: 136,872,724	C79R	probably damaging	Het
Mpdz	T	A	4: 81,308,365	K1344N	probably damaging	Het
Mrgpre	T	A	7: 143,780,971	Y265F	possibly damaging	Het
Mro	G	A	18: 73,873,224	V80M	possibly damaging	Het
Mrpl44	G	T	1: 79,778,178	C167F	possibly damaging	Het
Muc5b	A	G	7: 141,856,342	M1218V	probably null	Het
Naa16	T	C	14: 79,383,340	I100V	possibly damaging	Het
Nup205	A	T	6: 35,243,843	Y1860F	possibly damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1195	T	C	2: 88,683,633	Y33C	probably damaging	Het
Olfr293	A	G	7: 86,664,611	I316M	probably benign	Het
Olfr432	A	T	1: 174,050,967	Y198F	probably benign	Het
Plcb3	A	G	19: 6,954,703		probably null	Het
Pnpla3	G	A	15: 84,180,931	A309T	probably benign	Het
Ranbp10	A	G	8: 105,771,664	S624P	possibly damaging	Het
Ripor2	T	C	13: 24,710,130	S714P	possibly damaging	Het
Robo4	C	T	9: 37,405,630	Q414*	probably null	Het
Shc2	A	G	10: 79,630,120	I161T	probably damaging	Het
Slc35b2	C	T	17: 45,566,376	T143I	probably benign	Het
Slc39a13	T	C	2: 91,068,535	D77G	probably damaging	Het
Snx6	A	C	12: 54,760,464	D243E	probably damaging	Het
Taar8b	A	G	10: 24,091,813	V161A	probably benign	Het
Tbr1	T	A	2: 61,804,815	D36E	possibly damaging	Het
Tdpoz2	T	C	3: 93,652,311	N118S	probably benign	Het
Tgfb1i1	T	C	7: 128,253,345	F478L	probably damaging	Het
Tmprss11f	T	C	5: 86,556,978	D27G	probably benign	Het
Trim30d	T	G	7: 104,487,995	M1L	probably damaging	Het
Trpm7	A	G	2: 126,837,381	V420A	probably damaging	Het
Ubap2	G	T	4: 41,206,981	P199H	probably benign	Het
Ubash3b	T	C	9: 41,014,916	T512A	probably damaging	Het
Zfp65	G	A	13: 67,710,318	P76S	probably benign	Het
Zic5	A	T	14: 122,459,336	H622Q	unknown	Het
Zpld1	A	T	16: 55,233,630	N266K	probably damaging	Het
Zswim1	A	G	2: 164,826,052		probably null	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
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
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'- GGGGTTATCTCAGTCCCCTC -3'
(R):5'- GGACTCGGGTGGCTAACATC -3'

Sequencing Primer
(F):5'- CACTATTGATCTGGCTGGTTAAC -3'
(R):5'- GTGGCTAACATCCTAATGGTGTCC -3'

Posted On

2017-10-10