Mutagenetix > Incidental Mutation

Incidental Mutation 'R1993:Abcc8'

223900

Institutional Source

Beutler Lab

Gene Symbol

Abcc8

Ensembl Gene

ENSMUSG00000040136

Gene Name

ATP-binding cassette, sub-family C member 8

Synonyms

SUR1, Sur, D930031B21Rik

MMRRC Submission

040004-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

R1993 (G1)

Quality Score

194

Status

Not validated

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 45766847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033123]

AlphaFold

B2RUS7

Predicted Effect

probably null
Transcript: ENSMUST00000033123

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136

Domain	Start	End	E-Value	Type
transmembrane domain	30	52	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
transmembrane domain	105	124	N/A	INTRINSIC
transmembrane domain	131	148	N/A	INTRINSIC
transmembrane domain	168	190	N/A	INTRINSIC
Pfam:ABC_membrane	299	590	1.3e-39	PFAM
AAA	705	920	4.46e-14	SMART
low complexity region	972	994	N/A	INTRINSIC
Pfam:ABC_membrane	1019	1301	1.3e-49	PFAM
AAA	1377	1570	4.33e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210637

Predicted Effect

probably null
Transcript: ENSMUST00000210655

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a transient neonatal hypoglycemia and a late-developing glucose intolerance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	G	5: 8,871,322 (GRCm39)	I292S	possibly damaging	Het
Abcc4	T	C	14: 118,763,694 (GRCm39)	N1047S	probably benign	Het
Akap9	T	A	5: 4,088,520 (GRCm39)		probably null	Het
Alox5	T	A	6: 116,392,424 (GRCm39)	I366F	probably damaging	Het
Amn	A	G	12: 111,242,526 (GRCm39)	N447S	probably damaging	Het
Ankrd22	A	T	19: 34,143,174 (GRCm39)	M1K	probably null	Het
Asic1	G	T	15: 99,569,765 (GRCm39)	G29C	probably damaging	Het
Atxn7l1	A	G	12: 33,395,976 (GRCm39)	N235S	probably benign	Het
AY358078	T	A	14: 52,063,519 (GRCm39)	D388E	probably damaging	Het
Bod1l	A	G	5: 41,974,679 (GRCm39)	S2212P	probably damaging	Het
Cacna1e	T	A	1: 154,353,563 (GRCm39)	Q423L	probably damaging	Het
Calu	T	C	6: 29,366,974 (GRCm39)	I62T	possibly damaging	Het
Cars2	A	G	8: 11,564,515 (GRCm39)	V75A	probably benign	Het
Catsperb	T	A	12: 101,569,026 (GRCm39)	N899K	possibly damaging	Het
Ccdc50	T	A	16: 27,228,089 (GRCm39)	C86*	probably null	Het
Cdh5	G	T	8: 104,864,447 (GRCm39)	L469F	probably damaging	Het
Clrn3	A	T	7: 135,115,848 (GRCm39)	D167E	probably benign	Het
Csmd1	A	T	8: 16,396,698 (GRCm39)	C411S	probably damaging	Het
Dchs1	A	T	7: 105,411,755 (GRCm39)	S1454T	probably benign	Het
Ddx20	G	A	3: 105,586,660 (GRCm39)	Q562*	probably null	Het
Dgkg	T	G	16: 22,419,344 (GRCm39)	Y52S	probably damaging	Het
Dhx58	T	C	11: 100,594,316 (GRCm39)		probably null	Het
Dpp6	A	T	5: 27,604,004 (GRCm39)	I145L	probably benign	Het
Efna2	A	T	10: 80,022,711 (GRCm39)	Y85F	possibly damaging	Het
Eif3a	C	T	19: 60,769,954 (GRCm39)	V127I	probably benign	Het
Exph5	A	T	9: 53,284,935 (GRCm39)	H672L	possibly damaging	Het
Fam131b	T	C	6: 42,297,818 (GRCm39)	T112A	possibly damaging	Het
Fcgr1	A	T	3: 96,193,184 (GRCm39)	V271E	probably damaging	Het
Fgfr4	A	G	13: 55,313,715 (GRCm39)	D508G	probably damaging	Het
Fndc3b	A	G	3: 27,473,549 (GRCm39)	M1172T	probably benign	Het
Fryl	G	T	5: 73,265,836 (GRCm39)	T495K	probably damaging	Het
Garin5b	A	T	7: 4,761,017 (GRCm39)	V565E	probably damaging	Het
Gm5134	A	T	10: 75,802,227 (GRCm39)	I93F	probably damaging	Het
Gpbar1	G	A	1: 74,318,603 (GRCm39)	G282D	possibly damaging	Het
Gria2	G	A	3: 80,709,664 (GRCm39)	L10F	probably benign	Het
Grm7	T	C	6: 111,184,769 (GRCm39)	Y367H	probably benign	Het
H1f9	T	A	11: 94,858,858 (GRCm39)	V51E	probably damaging	Het
Hivep1	G	A	13: 42,310,969 (GRCm39)	A1070T	probably benign	Het
Il33	A	G	19: 29,934,304 (GRCm39)	D155G	possibly damaging	Het
Kdm6b	T	C	11: 69,297,129 (GRCm39)	S408G	probably null	Het
Kntc1	A	G	5: 123,948,874 (GRCm39)		probably null	Het
Kntc1	G	A	5: 123,897,162 (GRCm39)		probably null	Het
Ltbp2	T	G	12: 84,855,220 (GRCm39)		probably null	Het
Mapk8ip3	G	T	17: 25,133,562 (GRCm39)	L83I	probably damaging	Het
Meltf	C	A	16: 31,711,440 (GRCm39)	Y554*	probably null	Het
Mov10	A	C	3: 104,706,735 (GRCm39)	F725C	probably damaging	Het
Ms4a6d	A	C	19: 11,567,523 (GRCm39)	L18R	probably damaging	Het
Naip2	T	C	13: 100,298,515 (GRCm39)	N507S	probably benign	Het
Nodal	A	G	10: 61,254,113 (GRCm39)	Q12R	probably benign	Het
Npy6r	T	C	18: 44,409,575 (GRCm39)	L332P	probably damaging	Het
Nrxn3	A	G	12: 89,227,181 (GRCm39)	K272R	possibly damaging	Het
Obox2	G	T	7: 15,131,174 (GRCm39)	K93N	probably benign	Het
Or10j27	C	T	1: 172,958,418 (GRCm39)	R122H	possibly damaging	Het
Or51a6	G	T	7: 102,603,953 (GRCm39)	P285Q	probably damaging	Het
Or5b112	A	G	19: 13,319,178 (GRCm39)	T19A	possibly damaging	Het
Or5w13	C	T	2: 87,523,777 (GRCm39)	V150M	probably benign	Het
Pcdh12	T	A	18: 38,415,196 (GRCm39)	D643V	possibly damaging	Het
Pcsk2	A	G	2: 143,529,539 (GRCm39)	D112G	probably benign	Het
Pms1	A	G	1: 53,234,174 (GRCm39)	S781P	probably benign	Het
Prtg	A	G	9: 72,752,178 (GRCm39)	D188G	probably benign	Het
Psg21	A	T	7: 18,388,695 (GRCm39)	N132K	probably benign	Het
Psip1	A	G	4: 83,400,769 (GRCm39)	V25A	probably damaging	Het
Psmd13	T	A	7: 140,478,107 (GRCm39)	I319N	probably damaging	Het
Ptges2	A	G	2: 32,290,104 (GRCm39)	T173A	probably benign	Het
Ptprm	G	A	17: 67,054,155 (GRCm39)	R975W	probably damaging	Het
Rdh1	A	G	10: 127,601,214 (GRCm39)	D254G	probably benign	Het
Rnf138	T	G	18: 21,157,540 (GRCm39)	N212K	probably damaging	Het
Serpine2	A	G	1: 79,799,159 (GRCm39)	S32P	probably damaging	Het
Serpini1	G	T	3: 75,521,971 (GRCm39)	W154L	probably damaging	Het
Sf3a1	C	A	11: 4,129,177 (GRCm39)	Q713K	possibly damaging	Het
Sgo2b	A	T	8: 64,379,867 (GRCm39)	H988Q	probably benign	Het
Sin3a	T	C	9: 57,008,483 (GRCm39)	F468L	probably damaging	Het
Slamf6	A	T	1: 171,761,776 (GRCm39)	I66F	possibly damaging	Het
Slc22a28	A	T	19: 8,094,488 (GRCm39)	C178S	possibly damaging	Het
Slc35a1	A	C	4: 34,675,181 (GRCm39)	V119G	probably damaging	Het
Slc39a12	A	T	2: 14,439,030 (GRCm39)	H428L	probably damaging	Het
Speer2	A	G	16: 69,654,965 (GRCm39)	S167P	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Spsb2	T	C	6: 124,786,329 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,593,168 (GRCm39)	Y341*	probably null	Het
Sv2b	G	A	7: 74,856,089 (GRCm39)	A67V	probably benign	Het
Svep1	A	G	4: 58,064,170 (GRCm39)		probably null	Het
Syt15	A	T	14: 33,944,969 (GRCm39)	Q172L	probably benign	Het
T	G	A	17: 8,660,634 (GRCm39)	S415N	probably benign	Het
Tep1	A	G	14: 51,061,641 (GRCm39)	F2625S	possibly damaging	Het
Tex14	T	C	11: 87,427,581 (GRCm39)	V11A	possibly damaging	Het
Tiam2	A	T	17: 3,465,401 (GRCm39)	R377*	probably null	Het
Tirap	A	G	9: 35,102,312 (GRCm39)		probably null	Het
Tm4sf20	T	C	1: 82,737,938 (GRCm39)	T118A	probably benign	Het
Trank1	A	T	9: 111,207,900 (GRCm39)	Q1715L	probably benign	Het
Trpm2	C	T	10: 77,783,823 (GRCm39)	V217M	probably damaging	Het
Ubap1l	G	A	9: 65,279,078 (GRCm39)	E126K	possibly damaging	Het
Urgcp	G	T	11: 5,666,526 (GRCm39)	P604Q	probably damaging	Het
Vmn1r63	A	G	7: 5,806,254 (GRCm39)	V126A	probably benign	Het
Vmn2r90	T	C	17: 17,933,525 (GRCm39)	C362R	probably damaging	Het
Vmn2r96	A	G	17: 18,804,138 (GRCm39)	I271V	probably damaging	Het
Vps13a	A	T	19: 16,699,822 (GRCm39)	I740K	probably benign	Het
Vps13c	A	G	9: 67,883,138 (GRCm39)	T3562A	probably damaging	Het
Wdr91	T	A	6: 34,869,297 (GRCm39)	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,342,938 (GRCm39)	T315S	possibly damaging	Het
Zfp616	A	G	11: 73,975,795 (GRCm39)	H688R	probably benign	Het
Zfp763	A	T	17: 33,237,413 (GRCm39)	H577Q	probably damaging	Het
Zfp808	G	A	13: 62,320,721 (GRCm39)	S650N	probably benign	Het
Zfp977	A	T	7: 42,229,409 (GRCm39)	M372K	probably benign	Het

Other mutations in Abcc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Abcc8	APN	7	45,754,088 (GRCm39)	missense	probably benign
IGL01457:Abcc8	APN	7	45,784,917 (GRCm39)	missense	possibly damaging	0.51
IGL01645:Abcc8	APN	7	45,764,477 (GRCm39)	missense	possibly damaging	0.93
IGL01683:Abcc8	APN	7	45,801,091 (GRCm39)	missense	possibly damaging	0.78
IGL01826:Abcc8	APN	7	45,774,273 (GRCm39)	missense	probably benign	0.01
IGL01912:Abcc8	APN	7	45,769,934 (GRCm39)	missense	probably damaging	1.00
IGL02218:Abcc8	APN	7	45,769,860 (GRCm39)	missense	probably benign	0.00
IGL02326:Abcc8	APN	7	45,772,281 (GRCm39)	critical splice donor site	probably null
IGL02403:Abcc8	APN	7	45,755,227 (GRCm39)	splice site	probably null
IGL02411:Abcc8	APN	7	45,756,431 (GRCm39)	missense	probably damaging	1.00
IGL02653:Abcc8	APN	7	45,765,191 (GRCm39)	splice site	probably benign
IGL02706:Abcc8	APN	7	45,816,345 (GRCm39)	missense	probably benign	0.08
R0295:Abcc8	UTSW	7	45,767,478 (GRCm39)	missense	probably benign
R0381:Abcc8	UTSW	7	45,757,858 (GRCm39)	missense	possibly damaging	0.46
R0391:Abcc8	UTSW	7	45,771,597 (GRCm39)	missense	probably damaging	0.98
R0408:Abcc8	UTSW	7	45,756,457 (GRCm39)	missense	probably damaging	0.99
R0496:Abcc8	UTSW	7	45,758,244 (GRCm39)	missense	probably damaging	1.00
R1126:Abcc8	UTSW	7	45,759,062 (GRCm39)	missense	probably damaging	0.99
R1323:Abcc8	UTSW	7	45,766,786 (GRCm39)	missense	probably benign	0.07
R1323:Abcc8	UTSW	7	45,766,786 (GRCm39)	missense	probably benign	0.07
R1352:Abcc8	UTSW	7	45,784,892 (GRCm39)	splice site	probably benign
R1368:Abcc8	UTSW	7	45,772,284 (GRCm39)	missense	probably damaging	1.00
R1437:Abcc8	UTSW	7	45,829,237 (GRCm39)	missense	probably damaging	1.00
R1463:Abcc8	UTSW	7	45,803,936 (GRCm39)	missense	probably benign	0.12
R1689:Abcc8	UTSW	7	45,769,827 (GRCm39)	missense	probably benign	0.16
R1717:Abcc8	UTSW	7	45,765,239 (GRCm39)	missense	possibly damaging	0.91
R1804:Abcc8	UTSW	7	45,769,903 (GRCm39)	missense	probably benign	0.02
R1848:Abcc8	UTSW	7	45,816,326 (GRCm39)	missense	probably benign
R1870:Abcc8	UTSW	7	45,773,339 (GRCm39)	missense	probably benign	0.05
R1938:Abcc8	UTSW	7	45,824,795 (GRCm39)	missense	possibly damaging	0.49
R1994:Abcc8	UTSW	7	45,806,543 (GRCm39)	missense	probably benign	0.02
R2511:Abcc8	UTSW	7	45,800,204 (GRCm39)	missense	probably damaging	1.00
R3840:Abcc8	UTSW	7	45,757,524 (GRCm39)	missense	possibly damaging	0.67
R3879:Abcc8	UTSW	7	45,754,051 (GRCm39)	missense	possibly damaging	0.90
R4444:Abcc8	UTSW	7	45,785,618 (GRCm39)	missense	probably benign	0.09
R4463:Abcc8	UTSW	7	45,756,005 (GRCm39)	splice site	probably null
R4761:Abcc8	UTSW	7	45,762,499 (GRCm39)	missense	probably damaging	1.00
R4816:Abcc8	UTSW	7	45,754,131 (GRCm39)	missense	probably benign	0.01
R4841:Abcc8	UTSW	7	45,800,252 (GRCm39)	missense	probably damaging	1.00
R4842:Abcc8	UTSW	7	45,800,252 (GRCm39)	missense	probably damaging	1.00
R4870:Abcc8	UTSW	7	45,756,683 (GRCm39)	nonsense	probably null
R4969:Abcc8	UTSW	7	45,754,943 (GRCm39)	missense	probably benign	0.02
R4975:Abcc8	UTSW	7	45,800,291 (GRCm39)	missense	probably damaging	0.98
R5258:Abcc8	UTSW	7	45,806,572 (GRCm39)	missense	probably benign	0.17
R5258:Abcc8	UTSW	7	45,757,811 (GRCm39)	missense	probably benign
R5502:Abcc8	UTSW	7	45,758,262 (GRCm39)	missense	probably benign	0.00
R5518:Abcc8	UTSW	7	45,769,873 (GRCm39)	missense	probably benign
R5660:Abcc8	UTSW	7	45,757,828 (GRCm39)	missense	probably benign	0.15
R5902:Abcc8	UTSW	7	45,764,463 (GRCm39)	missense	probably benign
R5907:Abcc8	UTSW	7	45,773,330 (GRCm39)	missense	probably benign	0.01
R6023:Abcc8	UTSW	7	45,757,843 (GRCm39)	missense	possibly damaging	0.62
R6026:Abcc8	UTSW	7	45,816,424 (GRCm39)	missense	probably benign
R6078:Abcc8	UTSW	7	45,755,268 (GRCm39)	missense	probably benign	0.01
R6079:Abcc8	UTSW	7	45,755,268 (GRCm39)	missense	probably benign	0.01
R6103:Abcc8	UTSW	7	45,768,445 (GRCm39)	missense	possibly damaging	0.50
R6221:Abcc8	UTSW	7	45,824,874 (GRCm39)	missense	probably benign	0.01
R6511:Abcc8	UTSW	7	45,800,285 (GRCm39)	missense	possibly damaging	0.82
R7046:Abcc8	UTSW	7	45,772,364 (GRCm39)	missense	probably damaging	1.00
R7230:Abcc8	UTSW	7	45,766,812 (GRCm39)	missense	probably benign
R7287:Abcc8	UTSW	7	45,762,534 (GRCm39)	missense	probably damaging	1.00
R7292:Abcc8	UTSW	7	45,784,950 (GRCm39)	missense	probably benign
R7299:Abcc8	UTSW	7	45,754,922 (GRCm39)	missense	possibly damaging	0.62
R7411:Abcc8	UTSW	7	45,815,341 (GRCm39)	critical splice donor site	probably null
R7693:Abcc8	UTSW	7	45,827,968 (GRCm39)	missense	probably damaging	0.99
R7704:Abcc8	UTSW	7	45,756,068 (GRCm39)	missense	probably damaging	0.98
R7911:Abcc8	UTSW	7	45,803,860 (GRCm39)	missense	probably damaging	1.00
R7947:Abcc8	UTSW	7	45,754,886 (GRCm39)	critical splice donor site	probably null
R8089:Abcc8	UTSW	7	45,757,780 (GRCm39)	missense	probably benign	0.00
R8120:Abcc8	UTSW	7	45,786,108 (GRCm39)	missense	probably benign	0.01
R8394:Abcc8	UTSW	7	45,803,977 (GRCm39)	missense	probably benign	0.03
R8731:Abcc8	UTSW	7	45,803,986 (GRCm39)	missense	probably damaging	0.98
R8848:Abcc8	UTSW	7	45,766,769 (GRCm39)	missense	possibly damaging	0.69
R8938:Abcc8	UTSW	7	45,816,418 (GRCm39)	missense
R9246:Abcc8	UTSW	7	45,774,289 (GRCm39)	missense	probably benign	0.00
R9293:Abcc8	UTSW	7	45,756,092 (GRCm39)	missense	probably benign	0.00
R9476:Abcc8	UTSW	7	45,819,270 (GRCm39)	missense	possibly damaging	0.92
R9516:Abcc8	UTSW	7	45,787,429 (GRCm39)	missense	probably benign	0.30
R9541:Abcc8	UTSW	7	45,801,079 (GRCm39)	missense	probably benign	0.04
R9701:Abcc8	UTSW	7	45,786,054 (GRCm39)	missense	probably benign
R9802:Abcc8	UTSW	7	45,786,054 (GRCm39)	missense	probably benign
U15987:Abcc8	UTSW	7	45,755,268 (GRCm39)	missense	probably benign	0.01
Z1088:Abcc8	UTSW	7	45,787,489 (GRCm39)	missense	probably benign
Z1176:Abcc8	UTSW	7	45,756,389 (GRCm39)	missense	possibly damaging	0.76
Z1177:Abcc8	UTSW	7	45,803,933 (GRCm39)	missense	probably benign	0.00
Z1177:Abcc8	UTSW	7	45,772,309 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCACCAAGACCATGTGCTTG -3'
(R):5'- AGATGGCCTTCTGCTGGATG -3'

Sequencing Primer
(F):5'- CACCAAGACCATGTGCTTGAGTAG -3'
(R):5'- CGGTCACATTGTGTCCTCAAGAAG -3'

Posted On

2014-08-25