Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01731:Abcc6'

105487

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Synonyms

Mrp6, DCC, Dyscalc1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

IGL01731

Quality Score

Status

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46002610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 611 (P611L)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002850
AA Change: P611L

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: P611L

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

noncoding transcript
Transcript: ENSMUST00000211780

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430093F15Rik	T	A	19: 10,785,347		probably benign	Het
Abca13	T	C	11: 9,249,749		probably benign	Het
Acsl6	A	G	11: 54,350,559	E547G	probably benign	Het
Aldh1b1	T	C	4: 45,803,472	F337L	possibly damaging	Het
Alg1	C	T	16: 5,244,519	R422C	probably benign	Het
Ankrd23	A	G	1: 36,534,066	L75S	probably damaging	Het
Arid5b	T	C	10: 68,097,609	H578R	probably damaging	Het
Atp10a	G	T	7: 58,797,562	W684L	probably benign	Het
Bzw2	T	C	12: 36,107,648		probably null	Het
C2cd2	A	T	16: 97,870,172	I509K	probably damaging	Het
Card11	T	C	5: 140,882,302	T864A	possibly damaging	Het
Ces1f	A	G	8: 93,267,320	S278P	possibly damaging	Het
Chd8	T	C	14: 52,212,654	I208V	probably benign	Het
Cstf2t	T	C	19: 31,084,338	S425P	probably benign	Het
Cxcl1	A	G	5: 90,891,577	T60A	probably benign	Het
Diaph1	G	T	18: 37,853,709		probably benign	Het
Exoc3l	T	G	8: 105,292,955	K394T	probably benign	Het
Fabp4	T	C	3: 10,205,233		probably benign	Het
Fam234b	T	A	6: 135,211,905	F169L	possibly damaging	Het
Hectd1	C	A	12: 51,802,810	D204Y	possibly damaging	Het
Hephl1	A	T	9: 15,069,770	Y789N	probably damaging	Het
Igfbp6	C	A	15: 102,144,817	N90K	probably benign	Het
Khdrbs1	A	T	4: 129,725,669	D226E	probably benign	Het
Lipo4	T	A	19: 33,512,613	Q163L	probably damaging	Het
Med13l	T	C	5: 118,742,407	I1188T	probably benign	Het
Mki67	T	C	7: 135,696,549	E2252G	probably benign	Het
Nepn	G	T	10: 52,400,564	R132L	probably benign	Het
Nlrp9b	T	A	7: 20,023,417	L193*	probably null	Het
Ntn1	A	G	11: 68,385,418	S235P	probably damaging	Het
Nup210l	G	T	3: 90,154,566	R684L	probably damaging	Het
Obp2b	A	G	2: 25,739,281	S154G	possibly damaging	Het
Olfr1129	A	G	2: 87,575,938	T285A	probably benign	Het
Olfr1308	A	G	2: 111,960,635	V146A	probably benign	Het
Olfr491	A	T	7: 108,317,475	I194F	probably benign	Het
Olfr623	T	A	7: 103,660,846	T135S	probably benign	Het
Polr3b	A	T	10: 84,631,840	R95*	probably null	Het
Prelid2	C	T	18: 41,937,649	V40M	probably benign	Het
Ptprb	T	G	10: 116,372,876	L2205R	probably damaging	Het
R3hcc1l	T	C	19: 42,562,801	V79A	probably benign	Het
Rnf219	T	C	14: 104,479,302	D545G	probably damaging	Het
Stam2	A	G	2: 52,708,150	I259T	probably damaging	Het
Tdpoz4	A	T	3: 93,796,882	N162I	possibly damaging	Het
Tuba3a	A	G	6: 125,282,758	V75A	possibly damaging	Het
Vmn2r73	A	T	7: 85,857,549	*852K	probably null	Het
Wdr78	T	C	4: 103,062,435	I139V	probably benign	Het
Zfp7	C	T	15: 76,888,305	Q69*	probably null	Het
Zfp865	G	T	7: 5,029,876	A287S	probably benign	Het
Zmpste24	T	A	4: 121,097,884	Q39L	probably benign	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	46002672	splice site	probably benign
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
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

Posted On

2014-01-21