Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01645:Abcc8'

102620

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 #

IGL01645

Quality Score

Status

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45764477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1156 (C1156Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

Gene Model

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

AlphaFold

B2RUS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033123
AA Change: C1156Y

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: C1156Y

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

unknown
Transcript: ENSMUST00000210655
AA Change: C477Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211039

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh4	T	C	14: 50,011,011 (GRCm39)	E232G	probably damaging	Het
Atp8b1	G	A	18: 64,679,184 (GRCm39)	H766Y	probably benign	Het
Cacna2d1	C	A	5: 16,217,389 (GRCm39)		probably null	Het
Card11	T	A	5: 140,863,778 (GRCm39)	T987S	probably benign	Het
Dennd2b	T	A	7: 109,126,841 (GRCm39)	K540*	probably null	Het
Dmxl2	A	T	9: 54,286,017 (GRCm39)	Y2723N	possibly damaging	Het
Dnah11	T	A	12: 118,150,733 (GRCm39)	I342F	possibly damaging	Het
Dnajc10	A	G	2: 80,170,871 (GRCm39)	H454R	possibly damaging	Het
Dpy19l3	T	C	7: 35,394,763 (GRCm39)	T592A	probably benign	Het
Eea1	T	A	10: 95,825,451 (GRCm39)	S49T	probably damaging	Het
Esd	T	A	14: 74,987,159 (GRCm39)	N294K	probably benign	Het
Fmo3	A	G	1: 162,791,575 (GRCm39)	V234A	possibly damaging	Het
Folh1	A	G	7: 86,391,435 (GRCm39)	F420L	probably damaging	Het
Gabra1	T	C	11: 42,026,389 (GRCm39)	N301S	probably damaging	Het
Gm5422	A	T	10: 31,126,069 (GRCm39)		noncoding transcript	Het
Gorab	A	T	1: 163,214,000 (GRCm39)	L310Q	possibly damaging	Het
Gsdme	A	G	6: 50,228,316 (GRCm39)	Y51H	probably damaging	Het
Hrob	T	C	11: 102,146,012 (GRCm39)	L96P	probably damaging	Het
Itpr1	T	C	6: 108,450,560 (GRCm39)	I1964T	possibly damaging	Het
Lmbr1	A	G	5: 29,440,053 (GRCm39)	L410P	probably damaging	Het
Lrrc37a	T	C	11: 103,395,090 (GRCm39)	R112G	probably benign	Het
Mrgpra6	T	C	7: 46,835,681 (GRCm39)	T247A	probably benign	Het
Mroh4	A	G	15: 74,483,207 (GRCm39)		probably benign	Het
Mycbpap	T	C	11: 94,394,293 (GRCm39)		probably null	Het
Myoz2	T	A	3: 122,827,881 (GRCm39)	K12N	probably damaging	Het
Odad2	T	C	18: 7,268,491 (GRCm39)	S343G	probably benign	Het
Or1d2	T	C	11: 74,256,359 (GRCm39)	I288T	possibly damaging	Het
P3h1	T	G	4: 119,093,980 (GRCm39)	F212V	probably damaging	Het
Pcnx2	T	C	8: 126,614,656 (GRCm39)	D265G	probably damaging	Het
Pkd1l3	C	T	8: 110,361,934 (GRCm39)	T992I	possibly damaging	Het
Prss58	T	C	6: 40,874,244 (GRCm39)	D144G	probably damaging	Het
Pth2	T	A	7: 44,830,764 (GRCm39)	L29Q	possibly damaging	Het
Rab1b	A	C	19: 5,154,962 (GRCm39)		probably benign	Het
Rasa2	A	T	9: 96,464,834 (GRCm39)	C190*	probably null	Het
Scn9a	T	C	2: 66,317,986 (GRCm39)	K1501E	possibly damaging	Het
Selenoi	A	G	5: 30,462,821 (GRCm39)		probably benign	Het
Slc11a2	T	C	15: 100,286,999 (GRCm39)	N558S	probably benign	Het
Sox10	T	C	15: 79,040,539 (GRCm39)	I173V	probably benign	Het
Sra1	A	C	18: 36,804,526 (GRCm39)	F476C	probably damaging	Het
Tmem119	T	A	5: 113,933,409 (GRCm39)	K131*	probably null	Het
Trim12c	T	A	7: 103,994,261 (GRCm39)	K198*	probably null	Het
Ttn	A	G	2: 76,681,904 (GRCm39)		probably benign	Het
Unc119b	C	T	5: 115,265,371 (GRCm39)	V154I	probably benign	Het
Usp47	T	A	7: 111,654,069 (GRCm39)	S108R	probably damaging	Het
Vmn1r15	T	A	6: 57,235,547 (GRCm39)	C138*	probably null	Het
Vmn1r191	T	C	13: 22,363,614 (GRCm39)	I47V	probably benign	Het
Wnt3	C	T	11: 103,703,204 (GRCm39)	A229V	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
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

2014-01-21