Mutagenetix > Incidental Mutation

Incidental Mutation 'R4941:Abcc6'

383089

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

042539-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R4941 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46012523 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 435 (I435F)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: I435F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: I435F

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

Meta Mutation Damage Score

0.3587

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.0%

Validation Efficiency

97% (112/116)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	C	3: 36,917,702	H528P	probably damaging	Het
4932438A13Rik	G	A	3: 36,919,901	S600N	probably benign	Het
A4galt	T	A	15: 83,228,328	I85F	probably damaging	Het
Adam3	T	C	8: 24,677,316		probably benign	Het
Adrb3	T	C	8: 27,227,422	Y333C	probably damaging	Het
Ago4	A	T	4: 126,526,054	D43E	probably benign	Het
Agt	T	A	8: 124,556,988	Q464L	probably benign	Het
Amdhd1	A	T	10: 93,531,601	D230E	probably damaging	Het
Aplf	A	G	6: 87,668,423	I33T	probably damaging	Het
Aplf	A	T	6: 87,646,349	N249K	probably benign	Het
Arap2	A	G	5: 62,749,478	M66T	probably benign	Het
Atf4	T	C	15: 80,256,233		probably benign	Het
AU019823	G	T	9: 50,607,509	Q268K	probably benign	Het
Bahcc1	A	C	11: 120,286,665	H2068P	probably benign	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Catsper1	C	A	19: 5,341,438	A616D	possibly damaging	Het
Ccdc94	A	G	17: 55,964,149	D97G	possibly damaging	Het
Cdkn3	A	G	14: 46,769,863	D159G	possibly damaging	Het
Cep162	T	C	9: 87,225,969		probably benign	Het
Clca1	T	A	3: 145,015,653	I386L	probably damaging	Het
Cldn10	G	A	14: 118,788,313	G53S	possibly damaging	Het
Cmtm3	T	C	8: 104,343,828	L73P	probably damaging	Het
Cnksr3	A	C	10: 7,152,925	L149R	probably benign	Het
Cope	T	C	8: 70,302,934		probably null	Het
Cpa6	T	A	1: 10,409,337	M224L	probably benign	Het
Cyp2d41-ps	T	C	15: 82,781,953		noncoding transcript	Het
Ddx55	T	A	5: 124,568,716	L592*	probably null	Het
Deup1	T	C	9: 15,588,027	M333V	probably benign	Het
Eif4a1	T	C	11: 69,667,814		probably benign	Het
Eif4g3	A	C	4: 138,170,565	D1026A	probably damaging	Het
Eif5b	T	C	1: 38,051,199	V1153A	probably damaging	Het
Ercc8	G	T	13: 108,160,767		probably benign	Het
Fam227a	C	A	15: 79,640,003		probably null	Het
Fat1	A	G	8: 45,036,275	I3505V	probably benign	Het
Fat3	T	G	9: 16,375,152	E1025A	probably damaging	Het
Fat4	C	T	3: 38,957,452	R2234W	probably damaging	Het
Fer1l4	G	T	2: 156,045,089	F634L	probably damaging	Het
Fetub	G	A	16: 22,937,874	V162I	probably benign	Het
Fgd4	T	C	16: 16,484,538	Q51R	probably benign	Het
Fgfr2	T	C	7: 130,198,445	H140R	probably benign	Het
Flt3	T	A	5: 147,356,375		probably null	Het
Gabrb1	A	G	5: 72,136,778	N465S	probably damaging	Het
Gapdhs	T	C	7: 30,733,266	I206V	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Glp2r	T	C	11: 67,746,703		probably null	Het
Gm4956	T	A	1: 21,298,082		noncoding transcript	Het
Gtf2a1l	A	T	17: 88,714,922	D447V	probably damaging	Het
Hsd3b5	A	G	3: 98,619,063	W356R	probably damaging	Het
Idh2	A	T	7: 80,096,099	V335D	probably damaging	Het
Isyna1	T	C	8: 70,595,496	I184T	probably damaging	Het
Kcnh2	A	G	5: 24,331,087	S320P	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kpna6	A	G	4: 129,648,032	F524S	probably damaging	Het
Lap3	A	T	5: 45,506,197	M338L	probably benign	Het
Lins1	T	C	7: 66,709,450		probably benign	Het
Llgl1	C	T	11: 60,709,568	P581L	probably benign	Het
Lrrc43	A	G	5: 123,501,063	D385G	probably benign	Het
Maf	T	C	8: 115,706,793	D24G	unknown	Het
Nell1	T	C	7: 50,062,638	S69P	probably benign	Het
Olfr1342	C	T	4: 118,689,892	V187I	possibly damaging	Het
Olfr1436	A	G	19: 12,298,896	S79P	possibly damaging	Het
Olfr531	T	A	7: 140,400,879	M56L	probably benign	Het
Olfr609	T	C	7: 103,492,251	D209G	probably damaging	Het
Olfr91	C	T	17: 37,093,592	G94E	probably damaging	Het
Olfr969	T	C	9: 39,795,864	M163T	possibly damaging	Het
Oxld1	T	C	11: 120,457,036	T112A	probably benign	Het
Parp14	T	C	16: 35,846,033	N1210S	probably benign	Het
Pcdhb10	C	A	18: 37,412,834	T321K	probably benign	Het
Pcdhb8	C	T	18: 37,356,006	L246F	probably benign	Het
Pcdhga1	T	A	18: 37,662,606	I221K	probably benign	Het
Pcdhga9	T	A	18: 37,738,132	V338E	probably damaging	Het
Pdcd11	T	C	19: 47,119,886	S1231P	probably damaging	Het
Pde6c	A	T	19: 38,151,565	L325F	probably damaging	Het
Pnpla7	T	A	2: 24,997,264		probably null	Het
Pparg	T	A	6: 115,490,110	V478E	probably damaging	Het
Ppib	T	C	9: 66,060,390	V42A	probably benign	Het
Ppox	T	C	1: 171,277,593	M341V	probably damaging	Het
Proc	T	C	18: 32,125,113	K260E	possibly damaging	Het
Ptpro	C	T	6: 137,392,765	P525L	probably damaging	Het
Rnf14	C	A	18: 38,308,382	A275E	probably damaging	Het
Scnn1b	C	T	7: 121,912,008	P306L	probably damaging	Het
Sec14l5	A	G	16: 5,176,500	E386G	probably damaging	Het
Sftpa1	T	A	14: 41,132,552	I32N	probably damaging	Het
Slc26a5	A	G	5: 21,820,386	I408T	probably damaging	Het
Slc7a13	A	G	4: 19,841,467	Y438C	probably damaging	Het
Spire1	T	C	18: 67,519,314	E231G	possibly damaging	Het
Stab1	T	A	14: 31,151,571	I1014F	probably benign	Het
Steap2	T	C	5: 5,677,651	Y228C	probably damaging	Het
Tmem131l	T	C	3: 83,899,239	T1487A	probably benign	Het
Tmem171	A	G	13: 98,692,295	F116L	possibly damaging	Het
Tmem215	T	C	4: 40,474,520	V199A	probably damaging	Het
Tmem45a	T	C	16: 56,822,289	N173S	possibly damaging	Het
Uqcrc2	C	T	7: 120,643,078	R148C	probably benign	Het
Vmn2r116	A	G	17: 23,401,142	K617E	probably damaging	Het
Xrcc6	T	C	15: 82,039,812	L229P	probably damaging	Het
Zfp184	A	G	13: 21,949,721	D46G	probably damaging	Het
Zfp790	T	A	7: 29,829,491	C534S	possibly damaging	Het
Zfp990	A	T	4: 145,536,837	N135I	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
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'- TGAACCTGAGCAGAGGTCAC -3'
(R):5'- CAGGTTCACTGCATAGGTGG -3'

Sequencing Primer
(F):5'- GAGGTCACTCTAAGACTCTTCAC -3'
(R):5'- TCACTGCATAGGTGGTAAACTG -3'

Posted On

2016-04-27