Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02403:Abcc8'

291983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc8

Ensembl Gene

ENSMUSG00000040136

Gene Name

ATP-binding cassette, sub-family C member 8

Synonyms

SUR1, Sur, D930031B21Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

IGL02403

Quality Score

Status

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 45755227 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

probably null
Transcript: ENSMUST00000209432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210637

Predicted Effect

probably null
Transcript: ENSMUST00000210655

Predicted Effect

probably null
Transcript: ENSMUST00000210770

Coding Region Coverage

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	C	A	17: 72,208,388 (GRCm39)	G944V	probably damaging	Het
Alox15	T	C	11: 70,236,727 (GRCm39)	D446G	probably damaging	Het
Apof	A	G	10: 128,105,353 (GRCm39)		probably null	Het
Arhgap28	T	G	17: 68,180,154 (GRCm39)	D81A	possibly damaging	Het
Bltp1	T	C	3: 37,084,813 (GRCm39)	S3922P	probably benign	Het
Bms1	T	C	6: 118,382,185 (GRCm39)	E451G	possibly damaging	Het
C9orf72	A	G	4: 35,205,887 (GRCm39)		probably benign	Het
Capn13	T	A	17: 73,658,421 (GRCm39)	T216S	possibly damaging	Het
Ccdc28a	A	T	10: 18,089,931 (GRCm39)		probably benign	Het
Cdip1	T	C	16: 4,586,676 (GRCm39)	T150A	probably damaging	Het
Chrnb3	T	A	8: 27,883,836 (GRCm39)	L191Q	probably damaging	Het
Chst2	G	A	9: 95,287,285 (GRCm39)	Q354*	probably null	Het
Cldn11	T	C	3: 31,204,345 (GRCm39)	V16A	probably benign	Het
Cyp4f18	A	G	8: 72,752,072 (GRCm39)	M198T	probably damaging	Het
Dhx30	A	G	9: 109,920,587 (GRCm39)	L280P	probably damaging	Het
Disc1	A	G	8: 125,862,258 (GRCm39)		probably benign	Het
Dnm1l	T	C	16: 16,154,840 (GRCm39)	I172V	possibly damaging	Het
Edem2	T	C	2: 155,550,983 (GRCm39)	D328G	possibly damaging	Het
Fbxo10	G	A	4: 45,062,517 (GRCm39)	T3M	probably benign	Het
Fdxacb1	T	A	9: 50,682,863 (GRCm39)	S275R	possibly damaging	Het
Gm7275	C	A	16: 47,893,991 (GRCm39)		noncoding transcript	Het
Helz2	A	T	2: 180,872,815 (GRCm39)	I2468N	probably damaging	Het
Ift46	C	A	9: 44,698,176 (GRCm39)	P213Q	probably damaging	Het
Ift56	A	G	6: 38,386,373 (GRCm39)	M365V	possibly damaging	Het
Irf2	G	T	8: 47,299,207 (GRCm39)	V334F	probably damaging	Het
Lrp4	T	A	2: 91,338,927 (GRCm39)	V1786E	probably benign	Het
Mfsd5	A	G	15: 102,188,973 (GRCm39)	Y115C	probably benign	Het
Muc5ac	A	G	7: 141,357,187 (GRCm39)	R1154G	possibly damaging	Het
Nek4	G	T	14: 30,686,008 (GRCm39)	E314*	probably null	Het
Oas2	C	T	5: 120,886,815 (GRCm39)	G117D	possibly damaging	Het
Or8j3b	A	T	2: 86,204,867 (GRCm39)	D296E	probably benign	Het
Pikfyve	C	T	1: 65,283,663 (GRCm39)	H767Y	probably damaging	Het
Pkhd1	T	C	1: 20,632,642 (GRCm39)	H591R	probably benign	Het
Pygl	T	A	12: 70,241,032 (GRCm39)	I672F	probably benign	Het
Rft1	G	T	14: 30,382,278 (GRCm39)		probably benign	Het
Ripor3	A	C	2: 167,831,250 (GRCm39)	L517R	probably damaging	Het
Serpina3b	A	G	12: 104,096,721 (GRCm39)	M1V	probably null	Het
Sgce	C	T	6: 4,694,059 (GRCm39)	R263Q	probably damaging	Het
Stard6	A	T	18: 70,629,183 (GRCm39)		probably null	Het
Them4	T	C	3: 94,230,978 (GRCm39)	F117L	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Vmn2r116	G	T	17: 23,606,338 (GRCm39)	D417Y	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
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
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

Posted On

2015-04-16