Mutagenetix > Incidental Mutation

Incidental Mutation 'R6228:Abcc6'

504472

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

044357-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R6228 (G1)

Quality Score

101.008

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46030256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 9 (T9K)

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: T9K

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: T9K

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: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	T	C	14: 31,707,220	H925R	probably damaging	Het
Antxrl	A	T	14: 34,056,599	T128S	probably damaging	Het
Atp8b5	T	C	4: 43,304,674	Y62H	probably damaging	Het
AU019823	A	G	9: 50,607,671	S214P	possibly damaging	Het
Bmpr2	G	T	1: 59,867,436	V563L	probably benign	Het
Btn1a1	A	T	13: 23,464,351	L104Q	probably damaging	Het
Caskin1	C	G	17: 24,507,180	D1420E	probably damaging	Het
Cdc14a	A	T	3: 116,351,213	I150N	probably damaging	Het
Cdc26	C	T	4: 62,402,794	R4Q	probably damaging	Het
Cfap46	T	C	7: 139,656,580	D160G	probably damaging	Het
Cxcr4	A	C	1: 128,592,183		probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dgat1	T	C	15: 76,503,293	N317S	possibly damaging	Het
Disp1	G	A	1: 183,099,025	T228M	possibly damaging	Het
Dixdc1	A	C	9: 50,703,356		probably null	Het
Dnase1l2	C	A	17: 24,442,518		probably benign	Het
Dsg2	T	C	18: 20,594,293		probably null	Het
Duox2	A	T	2: 122,287,193	F887I	probably benign	Het
Efcab6	T	C	15: 83,967,624	D351G	possibly damaging	Het
Ep400	A	G	5: 110,670,942	V2621A	probably damaging	Het
Epg5	G	T	18: 77,948,462	V125F	possibly damaging	Het
Ephb1	T	C	9: 101,923,584	R953G	probably damaging	Het
Etfdh	G	T	3: 79,612,029	Y272*	probably null	Het
Fam117b	A	G	1: 59,969,048	E347G	probably damaging	Het
Fam214a	A	G	9: 75,006,363	M100V	possibly damaging	Het
Gfra3	A	T	18: 34,695,793	C183S	probably damaging	Het
Gm4981	A	G	10: 58,235,522	M290T	probably benign	Het
Gmip	A	G	8: 69,816,123	D466G	probably damaging	Het
Golga5	G	A	12: 102,484,481	M464I	probably benign	Het
Gpd1	A	T	15: 99,723,265	Q320L	possibly damaging	Het
H2-Oa	G	T	17: 34,093,877	D43Y	probably damaging	Het
Hecw1	T	A	13: 14,346,038	I205F	probably damaging	Het
Ighv8-13	A	G	12: 115,765,353	Y95H	probably damaging	Het
Igkv6-20	T	C	6: 70,336,097	M31V	possibly damaging	Het
Itih1	T	C	14: 30,931,260	D737G	probably benign	Het
Kcnc4	G	C	3: 107,448,377	H252D	probably damaging	Het
Kcnj14	T	A	7: 45,819,497	T195S	probably damaging	Het
Limch1	A	T	5: 67,016,502	D642V	probably damaging	Het
Lrp2	T	G	2: 69,482,366	D2526A	possibly damaging	Het
Lrrc8a	A	G	2: 30,256,553	T460A	possibly damaging	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Lypd8	A	T	11: 58,386,803	Q137L	possibly damaging	Het
Mapkapk3	A	G	9: 107,260,063	Y206H	probably damaging	Het
Mrc1	G	A	2: 14,271,304	G483D	probably benign	Het
Mrpl35	C	A	6: 71,823,677		probably benign	Het
Mycbp2	T	A	14: 103,260,229	H936L	probably benign	Het
Myh3	A	T	11: 67,087,486	Y433F	probably benign	Het
Napb	C	T	2: 148,698,178		probably null	Het
Nbeal1	C	A	1: 60,295,924	Q2288K	probably benign	Het
Ndst3	G	A	3: 123,671,652	Q224*	probably null	Het
Nkd2	A	G	13: 73,821,460	S284P	probably benign	Het
Olfr1100	T	C	2: 86,978,691	Y35C	probably damaging	Het
Olfr1448	A	T	19: 12,919,937	V124E	probably damaging	Het
Olfr420	G	A	1: 174,152,146	S210N	probably benign	Het
Olfr714	T	C	7: 107,074,136	Y103H	probably damaging	Het
Pcdhb8	A	G	18: 37,356,984	T572A	probably benign	Het
Pcdhb9	A	G	18: 37,402,062	I370V	probably benign	Het
Pcsk5	T	G	19: 17,581,267	E592A	possibly damaging	Het
Pigc	T	C	1: 161,970,467	V6A	probably benign	Het
Pla2g6	T	G	15: 79,305,724	I389L	probably benign	Het
Pnliprp2	T	C	19: 58,763,442		probably null	Het
Psmb11	T	C	14: 54,626,189	V288A	probably benign	Het
Rapgef5	A	G	12: 117,721,663		probably null	Het
Rcn3	T	C	7: 45,083,296	N316S	probably damaging	Het
Rgs6	A	G	12: 83,065,964	K183E	probably damaging	Het
Rhoc	A	G	3: 104,792,981		probably null	Het
Serinc5	T	C	13: 92,708,108	C453R	probably damaging	Het
Slc14a1	A	C	18: 78,116,399	M93R	probably damaging	Het
Slc25a3	A	T	10: 91,122,228	D83E	probably damaging	Het
Slc36a3	T	C	11: 55,124,951	Y459C	probably benign	Het
Slc44a5	A	T	3: 154,239,163	Y139F	probably benign	Het
Spag17	A	T	3: 100,022,602	Q539L	probably benign	Het
Stap2	C	T	17: 55,999,976	V234M	probably damaging	Het
Stard9	A	G	2: 120,713,750	Y4450C	probably damaging	Het
Taf6l	C	T	19: 8,778,666	R206Q	probably benign	Het
Tbc1d23	C	T	16: 57,182,903	V501I	probably damaging	Het
Thap2	T	C	10: 115,372,846	H123R	probably damaging	Het
Tlx3	C	A	11: 33,202,432	W221L	probably benign	Het
Tmem262	T	A	19: 6,080,537		probably null	Het
Tpmt	C	A	13: 47,027,259	R201S	probably benign	Het
Trpm6	T	C	19: 18,854,291	S1507P	probably damaging	Het
Ttc9c	T	C	19: 8,818,483	E64G	possibly damaging	Het
Ttn	A	T	2: 76,810,446	S13653T	probably damaging	Het
Ugt3a1	G	T	15: 9,310,640	W336L	possibly damaging	Het
Vmn1r215	C	A	13: 23,076,463	N224K	probably benign	Het
Vmn2r59	C	T	7: 42,042,411		probably null	Het
Wdfy3	A	G	5: 101,898,429	S1853P	possibly damaging	Het
Wdr36	A	T	18: 32,842,006	Y137F	possibly damaging	Het
Zdhhc17	T	C	10: 110,956,355	D324G	probably benign	Het
Zfp217	T	C	2: 170,119,577	T277A	probably benign	Het
Zfp451	A	G	1: 33,803,138		probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp871	T	C	17: 32,775,884	S106G	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
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'- TAACAAAGTCCCCAGTGGCTG -3'
(R):5'- AGGGGTTCCAGAATCACCTC -3'

Sequencing Primer
(F):5'- CTCTACAAGAGCAGGGATTTGGTG -3'
(R):5'- GTTCCAGAATCACCTCCCCGG -3'

Posted On

2018-02-28