Mutagenetix > Incidental Mutation

Incidental Mutation 'R7693:Abcc8'

593495

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

045708-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.500) question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45753952-45829441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45827968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 63 (S63I)

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033123] [ENSMUST00000210511]

AlphaFold

B2RUS7

Predicted Effect

probably damaging
Transcript: ENSMUST00000033123
AA Change: S63I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: S63I

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 damaging
Transcript: ENSMUST00000210511
AA Change: S63I

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	G	1: 165,398,340 (GRCm39)	E1479G	probably benign	Het
Alpl	C	T	4: 137,471,120 (GRCm39)	G339R	probably damaging	Het
Anapc1	A	G	2: 128,483,457 (GRCm39)	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,223,338 (GRCm39)	H525N	probably benign	Het
Arhgap33	A	T	7: 30,225,537 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,763,222 (GRCm39)	E826G	probably benign	Het
Art2a	A	T	7: 101,204,056 (GRCm39)	*161R	probably null	Het
Azi2	A	T	9: 117,876,661 (GRCm39)	N59I	probably damaging	Het
Cdhr5	T	C	7: 140,851,691 (GRCm39)	T538A	probably benign	Het
Cilk1	A	G	9: 78,065,008 (GRCm39)	D306G	probably benign	Het
Csnk2b	C	A	17: 35,336,972 (GRCm39)	G123C	probably null	Het
Dnaaf10	T	C	11: 17,162,064 (GRCm39)	V34A	probably benign	Het
Dnaja2	G	T	8: 86,266,939 (GRCm39)	P306Q	probably damaging	Het
Dusp19	A	G	2: 80,447,905 (GRCm39)	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,101,443 (GRCm39)	G139S	probably benign	Het
Fer1l4	A	G	2: 155,862,351 (GRCm39)	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 30,770,598 (GRCm39)	R66S	probably benign	Het
Gjd2	T	C	2: 113,842,309 (GRCm39)	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,691,239 (GRCm39)	I252T	probably benign	Het
Gnl1	T	C	17: 36,299,112 (GRCm39)	C517R	probably damaging	Het
Grin1	T	A	2: 25,208,679 (GRCm39)	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,209,642 (GRCm39)	M244T	probably damaging	Het
Iqca1l	T	C	5: 24,751,626 (GRCm39)	I541V	probably benign	Het
Kcnma1	T	A	14: 23,417,680 (GRCm39)	I850F	probably damaging	Het
Kif13a	G	T	13: 46,904,089 (GRCm39)	T1748N	probably benign	Het
Lama1	C	T	17: 68,124,026 (GRCm39)	A2817V		Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Neb	C	T	2: 52,189,581 (GRCm39)	A770T	probably damaging	Het
Noc2l	T	A	4: 156,324,764 (GRCm39)	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,695,733 (GRCm39)	D205G	probably benign	Het
Or5m5	A	T	2: 85,814,979 (GRCm39)	Y265F	probably damaging	Het
Or7a37	A	T	10: 78,806,137 (GRCm39)	Y218F	probably damaging	Het
Parp9	A	G	16: 35,777,282 (GRCm39)	S409G	possibly damaging	Het
Pcnx2	G	A	8: 126,613,864 (GRCm39)	T529I	probably benign	Het
Popdc3	A	G	10: 45,191,227 (GRCm39)	S113G	probably benign	Het
Rbm8a	T	C	3: 96,537,624 (GRCm39)	I25T	probably damaging	Het
Rfc4	A	G	16: 22,946,163 (GRCm39)	W40R	probably damaging	Het
Rp1	T	C	1: 4,417,626 (GRCm39)	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,197,218 (GRCm39)	A846V	possibly damaging	Het
Spx	A	G	6: 142,360,516 (GRCm39)	D56G	probably damaging	Het
Tanc2	T	A	11: 105,814,293 (GRCm39)	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,001,843 (GRCm39)	I559V		Het
Tnfaip3	A	G	10: 18,880,528 (GRCm39)	V513A	probably benign	Het
Ucp3	T	C	7: 100,131,799 (GRCm39)	F217L	probably benign	Het
Zc3h11a	A	T	1: 133,573,475 (GRCm39)	M55K	probably damaging	Het
Zfp316	G	A	5: 143,249,167 (GRCm39)	T156I	unknown	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
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'- GTTTACAGAAGGCCGATGAGC -3'
(R):5'- TGCCCATATGTCTAGCAGAAAC -3'

Sequencing Primer
(F):5'- CCGATGAGCAGGCACAG -3'
(R):5'- TCACACAAGAGGTCAGTGTG -3'

Posted On

2019-11-12