Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01114:Abcc8'

51580

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: 0.552) question?

Stock #

IGL01114

Quality Score

Status

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45754088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1576 (K1576R)

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033123] [ENSMUST00000180081] [ENSMUST00000209291] [ENSMUST00000209881] [ENSMUST00000211674]

AlphaFold

B2RUS7

Predicted Effect

probably benign
Transcript: ENSMUST00000033123
AA Change: K1576R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: K1576R

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: ENSMUST00000180081

SMART Domains

Protein: ENSMUSP00000136002
Gene: ENSMUSG00000096146

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Pfam:IRK	36	360	4.9e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209291

Predicted Effect

probably benign
Transcript: ENSMUST00000209432

Predicted Effect

probably benign
Transcript: ENSMUST00000209881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210637

Predicted Effect

unknown
Transcript: ENSMUST00000210655
AA Change: K897R

Predicted Effect

unknown
Transcript: ENSMUST00000210770
AA Change: K110R

Predicted Effect

probably benign
Transcript: ENSMUST00000211674

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700101I19Rik	T	C	1: 34,618,370 (GRCm39)		probably benign	Het
Abca15	T	G	7: 119,960,643 (GRCm39)	Y702D	probably damaging	Het
Acot12	T	A	13: 91,905,711 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,895,202 (GRCm39)	I1098V	probably benign	Het
Adcy6	C	T	15: 98,496,857 (GRCm39)	V471M	probably damaging	Het
Ccdc170	C	A	10: 4,508,550 (GRCm39)	D591E	probably benign	Het
Corin	A	C	5: 72,462,354 (GRCm39)	D826E	probably damaging	Het
Cpsf2	T	G	12: 101,956,098 (GRCm39)	N300K	possibly damaging	Het
Csmd2	C	T	4: 128,262,923 (GRCm39)	T703I	probably benign	Het
D130043K22Rik	T	A	13: 25,041,139 (GRCm39)	L187Q	probably damaging	Het
D430041D05Rik	G	T	2: 104,088,511 (GRCm39)	S155*	probably null	Het
Dmrtc2	C	T	7: 24,572,001 (GRCm39)	P32L	probably damaging	Het
Dsel	G	A	1: 111,787,791 (GRCm39)	R915*	probably null	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fam171b	G	A	2: 83,707,072 (GRCm39)	W314*	probably null	Het
Gpn1	G	T	5: 31,655,745 (GRCm39)	D103Y	probably damaging	Het
Gpr89	A	T	3: 96,800,865 (GRCm39)	F88I	probably damaging	Het
Ifi27l2a	T	C	12: 103,403,792 (GRCm39)		probably benign	Het
Kdm4d	A	G	9: 14,375,493 (GRCm39)	Y122H	probably damaging	Het
Oas1d	G	A	5: 121,054,907 (GRCm39)	V160I	probably benign	Het
Or5b108	A	G	19: 13,168,598 (GRCm39)	D189G	possibly damaging	Het
Or7e170	A	T	9: 19,794,844 (GRCm39)	Y252*	probably null	Het
Poglut3	T	C	9: 53,299,879 (GRCm39)		probably null	Het
Rrp1b	C	T	17: 32,271,793 (GRCm39)	P288S	probably benign	Het
Sin3b	A	G	8: 73,471,133 (GRCm39)	K360R	probably benign	Het
Sympk	A	G	7: 18,781,498 (GRCm39)	D818G	probably benign	Het
Tecpr2	A	G	12: 110,934,213 (GRCm39)	D1291G	possibly damaging	Het
Tep1	C	T	14: 51,088,096 (GRCm39)	V814M	probably damaging	Het
Tpsg1	T	C	17: 25,592,196 (GRCm39)	V17A	probably benign	Het

Other mutations in Abcc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21