Mutagenetix > Incidental Mutation

Incidental Mutation 'R8089:Abcc8'

629842

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

067522-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.552) question?

Stock #

R8089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45757780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1323 (T1323I)

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

Gene Model

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

AlphaFold

B2RUS7

Predicted Effect

probably benign
Transcript: ENSMUST00000033123
AA Change: T1323I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: T1323I

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: ENSMUST00000209432

Predicted Effect

probably benign
Transcript: ENSMUST00000210770

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.7%

Validation Efficiency

93% (54/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,383 (GRCm39)	V768I	probably benign	Het
Adamtsl2	A	G	2: 26,994,809 (GRCm39)	M828V	probably benign	Het
Agmo	A	G	12: 37,397,306 (GRCm39)	D153G	probably benign	Het
Akap13	T	A	7: 75,260,340 (GRCm39)	V185D	possibly damaging	Het
Asic1	A	G	15: 99,595,968 (GRCm39)	N414D	probably damaging	Het
Bin1	T	A	18: 32,562,236 (GRCm39)		probably null	Het
Ccar1	C	A	10: 62,626,770 (GRCm39)	M1I	probably null	Het
Cdh26	T	A	2: 178,099,370 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,532,603 (GRCm39)	D1620N		Het
Dennd4a	A	T	9: 64,756,457 (GRCm39)	N204I	probably damaging	Het
Dgkb	G	A	12: 38,234,949 (GRCm39)	S438N	probably damaging	Het
Dmxl1	T	C	18: 50,021,897 (GRCm39)	M1604T	probably damaging	Het
Fhad1	T	A	4: 141,684,971 (GRCm39)	D456V	probably damaging	Het
Gcfc2	C	T	6: 81,902,771 (GRCm39)	T86M	probably damaging	Het
Idua	T	A	5: 108,829,646 (GRCm39)	M503K	probably damaging	Het
Ift70b	T	C	2: 75,767,647 (GRCm39)	T369A	possibly damaging	Het
Ighm	T	C	12: 113,384,854 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,740,750 (GRCm39)	S4676T	unknown	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Map3k13	T	C	16: 21,722,567 (GRCm39)	V243A	possibly damaging	Het
Moxd1	A	G	10: 24,157,417 (GRCm39)	T350A	probably benign	Het
Nalcn	A	T	14: 123,537,372 (GRCm39)	W1175R	probably damaging	Het
Or10u4	A	T	10: 129,802,566 (GRCm39)	M1K	probably null	Het
Or5h27	T	G	16: 59,006,073 (GRCm39)	I258L	unknown	Het
Or8g26	T	A	9: 39,095,927 (GRCm39)	V148E	probably damaging	Het
Pacsin2	A	G	15: 83,263,897 (GRCm39)	I380T	probably benign	Het
Plcd1	A	C	9: 118,905,060 (GRCm39)	C214G	possibly damaging	Het
Poglut3	C	T	9: 53,307,262 (GRCm39)	A402V	probably benign	Het
Ptprm	C	A	17: 66,990,483 (GRCm39)	W1385L	possibly damaging	Het
Rab22a	C	T	2: 173,530,013 (GRCm39)	Q64*	probably null	Het
Rasa2	G	T	9: 96,435,177 (GRCm39)	H604Q	probably benign	Het
Rasal1	G	A	5: 120,809,643 (GRCm39)	G516D	probably damaging	Het
Rasgrp3	A	T	17: 75,804,056 (GRCm39)	I120L	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rgs12	T	C	5: 35,177,692 (GRCm39)	I742T	probably damaging	Het
Scyl3	A	G	1: 163,763,996 (GRCm39)	T121A	possibly damaging	Het
Six5	T	G	7: 18,828,797 (GRCm39)	F79C	probably damaging	Het
Tbx3	G	A	5: 119,818,634 (GRCm39)	R423H	probably damaging	Het
Terf2ip	C	T	8: 112,738,424 (GRCm39)	T104M	probably benign	Het
Tmem135	A	G	7: 88,805,703 (GRCm39)	C234R	probably damaging	Het
Tnxb	C	G	17: 34,891,763 (GRCm39)	A702G	unknown	Het
Tspan1	T	C	4: 116,021,532 (GRCm39)	K83R	probably null	Het
Ttn	C	T	2: 76,728,406 (GRCm39)		probably null	Het
Usp5	A	T	6: 124,797,373 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,194 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r110	G	A	17: 20,803,807 (GRCm39)	T256I	probably benign	Het
Zfp831	T	A	2: 174,486,717 (GRCm39)	L464Q	possibly damaging	Het
Zscan4-ps3	C	A	7: 11,346,659 (GRCm39)	H232N	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
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
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'- GCTTCAGGGAGCTGTCATAG -3'
(R):5'- TAATCCACCCCAGAGCTAGGAG -3'

Sequencing Primer
(F):5'- ATAGCGCACACTCAGGTTTTG -3'
(R):5'- CCAGAGCTAGGAGAGTCATCCTG -3'

Posted On

2020-06-30