Mutagenetix > Incidental Mutation

Incidental Mutation 'R1352:Abcc8'

156702

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

039417-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R1352 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 45784892 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

B2RUS7

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000210110

Predicted Effect

probably benign
Transcript: ENSMUST00000210655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211767

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.5%

Validation Efficiency

95% (42/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	A	1: 180,566,095 (GRCm39)	Y263N	probably damaging	Het
Aldh4a1	T	C	4: 139,362,830 (GRCm39)	V142A	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,258,415 (GRCm39)	S138P	probably damaging	Het
Cbln4	T	C	2: 171,879,376 (GRCm39)	K171E	possibly damaging	Het
Cd226	A	G	18: 89,265,298 (GRCm39)	Y79C	probably damaging	Het
Dclre1a	T	C	19: 56,533,595 (GRCm39)	D333G	probably damaging	Het
Dst	T	A	1: 34,268,329 (GRCm39)		probably null	Het
Eml5	A	G	12: 98,797,262 (GRCm39)		probably benign	Het
Evx1	T	C	6: 52,293,995 (GRCm39)	S388P	probably damaging	Het
Gins1	T	A	2: 150,772,768 (GRCm39)	L177*	probably null	Het
Gm5422	A	C	10: 31,126,731 (GRCm39)		noncoding transcript	Het
Gmppa	T	A	1: 75,417,178 (GRCm39)	D204E	probably benign	Het
Ifna7	A	C	4: 88,734,897 (GRCm39)	T145P	possibly damaging	Het
Inhbb	T	C	1: 119,348,425 (GRCm39)	D131G	probably benign	Het
Itpr2	T	C	6: 146,013,240 (GRCm39)	K2679E	probably damaging	Het
Kif20b	C	A	19: 34,902,035 (GRCm39)	H4N	probably benign	Het
Kng1	G	T	16: 22,886,444 (GRCm39)		probably null	Het
Lrrfip1	C	T	1: 91,043,089 (GRCm39)	A498V	probably benign	Het
Myo3a	T	A	2: 22,328,486 (GRCm39)		probably null	Het
Nkapl	T	C	13: 21,652,230 (GRCm39)	R128G	unknown	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5bw2	A	T	7: 6,573,782 (GRCm39)	Y264F	probably benign	Het
Prlr	T	C	15: 10,328,872 (GRCm39)	V449A	probably benign	Het
Rbm44	C	A	1: 91,080,764 (GRCm39)	D317E	probably damaging	Het
Sirt5	T	C	13: 43,548,283 (GRCm39)	S310P	probably damaging	Het
Spice1	T	C	16: 44,207,185 (GRCm39)	S856P	probably damaging	Het
Sptan1	T	A	2: 29,911,199 (GRCm39)		probably benign	Het
St6gal1	A	G	16: 23,140,401 (GRCm39)	K191E	probably damaging	Het
Stat6	A	T	10: 127,486,680 (GRCm39)	Q152L	probably benign	Het
Stk3	T	C	15: 35,008,371 (GRCm39)	D253G	probably damaging	Het
Tas2r139	C	T	6: 42,117,874 (GRCm39)	A2V	probably benign	Het
Tfpi2	A	G	6: 3,968,281 (GRCm39)	L15P	probably damaging	Het
Topbp1	T	A	9: 103,224,207 (GRCm39)	C1445S	probably benign	Het
Trappc11	A	T	8: 47,978,081 (GRCm39)	H195Q	possibly damaging	Het
Ttc21a	A	T	9: 119,783,718 (GRCm39)	E600V	possibly damaging	Het
Ttn	T	C	2: 76,677,041 (GRCm39)		probably benign	Het
Vmn2r88	T	C	14: 51,656,007 (GRCm39)	S740P	probably damaging	Het
Wrn	A	C	8: 33,784,944 (GRCm39)	V476G	probably benign	Het
Zdbf2	C	A	1: 63,342,212 (GRCm39)	A197E	probably damaging	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
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
R1993:Abcc8	UTSW	7	45,766,847 (GRCm39)	splice site	probably null
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'- CTCTTTGGAAAGCAGTGTTTGCCTG -3'
(R):5'- GAGTTGTTCAGACTCCATCCAGCTTC -3'

Sequencing Primer
(F):5'- agtaggagtgggtggtagg -3'
(R):5'- AGACTCCATCCAGCTTCCATTC -3'

Posted On

2014-02-11