Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Abcc8'

575079

Institutional Source

Beutler Lab

Gene Symbol

Abcc8

Ensembl Gene

ENSMUSG00000040136

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Synonyms

D930031B21Rik, SUR1, Sur

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.529) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46104523-46180033 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 46165917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

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

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936		probably null	Het
Abcc12	C	A	8: 86,560,850	R122L	possibly damaging	Het
Adam28	C	T	14: 68,626,947	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195		probably null	Het
Gm11639	T	G	11: 104,999,723	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gm5861	T	A	5: 11,183,149		probably null	Het
Gm9513	T	C	9: 36,475,684	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985	F91L		Het
Ints1	C	T	5: 139,764,260	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063	M1K	probably null	Het
Jrk	C	T	15: 74,707,199	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855		probably null	Het
Nphp4	T	A	4: 152,554,717	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192		probably null	Het
Rhbdl2	G	A	4: 123,829,642	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Sema3a	T	G	5: 13,516,263	Y171*	probably null	Het
Set	A	G	2: 30,066,885	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		probably benign	Het
Slc6a20b	A	G	9: 123,604,948	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131	M1078R		Het
Wdr63	A	G	3: 146,097,145	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444		probably null	Het

Other mutations in Abcc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Abcc8	APN	7	46104664	missense	probably benign
IGL01457:Abcc8	APN	7	46135493	missense	possibly damaging	0.51
IGL01645:Abcc8	APN	7	46115053	missense	possibly damaging	0.93
IGL01683:Abcc8	APN	7	46151667	missense	possibly damaging	0.78
IGL01826:Abcc8	APN	7	46124849	missense	probably benign	0.01
IGL01912:Abcc8	APN	7	46120510	missense	probably damaging	1.00
IGL02218:Abcc8	APN	7	46120436	missense	probably benign	0.00
IGL02326:Abcc8	APN	7	46122857	critical splice donor site	probably null
IGL02403:Abcc8	APN	7	46105803	splice site	probably null
IGL02411:Abcc8	APN	7	46107007	missense	probably damaging	1.00
IGL02653:Abcc8	APN	7	46115767	splice site	probably benign
IGL02706:Abcc8	APN	7	46166921	missense	probably benign	0.08
R0295:Abcc8	UTSW	7	46118054	missense	probably benign
R0381:Abcc8	UTSW	7	46108434	missense	possibly damaging	0.46
R0391:Abcc8	UTSW	7	46122173	missense	probably damaging	0.98
R0408:Abcc8	UTSW	7	46107033	missense	probably damaging	0.99
R0496:Abcc8	UTSW	7	46108820	missense	probably damaging	1.00
R1126:Abcc8	UTSW	7	46109638	missense	probably damaging	0.99
R1323:Abcc8	UTSW	7	46117362	missense	probably benign	0.07
R1323:Abcc8	UTSW	7	46117362	missense	probably benign	0.07
R1352:Abcc8	UTSW	7	46135468	splice site	probably benign
R1368:Abcc8	UTSW	7	46122860	missense	probably damaging	1.00
R1437:Abcc8	UTSW	7	46179813	missense	probably damaging	1.00
R1463:Abcc8	UTSW	7	46154512	missense	probably benign	0.12
R1689:Abcc8	UTSW	7	46120403	missense	probably benign	0.16
R1717:Abcc8	UTSW	7	46115815	missense	possibly damaging	0.91
R1804:Abcc8	UTSW	7	46120479	missense	probably benign	0.02
R1848:Abcc8	UTSW	7	46166902	missense	probably benign
R1870:Abcc8	UTSW	7	46123915	missense	probably benign	0.05
R1938:Abcc8	UTSW	7	46175371	missense	possibly damaging	0.49
R1993:Abcc8	UTSW	7	46117423	splice site	probably null
R1994:Abcc8	UTSW	7	46157119	missense	probably benign	0.02
R2511:Abcc8	UTSW	7	46150780	missense	probably damaging	1.00
R3840:Abcc8	UTSW	7	46108100	missense	possibly damaging	0.67
R3879:Abcc8	UTSW	7	46104627	missense	possibly damaging	0.90
R4444:Abcc8	UTSW	7	46136194	missense	probably benign	0.09
R4463:Abcc8	UTSW	7	46106581	splice site	probably null
R4761:Abcc8	UTSW	7	46113075	missense	probably damaging	1.00
R4816:Abcc8	UTSW	7	46104707	missense	probably benign	0.01
R4841:Abcc8	UTSW	7	46150828	missense	probably damaging	1.00
R4842:Abcc8	UTSW	7	46150828	missense	probably damaging	1.00
R4870:Abcc8	UTSW	7	46107259	nonsense	probably null
R4969:Abcc8	UTSW	7	46105519	missense	probably benign	0.02
R4975:Abcc8	UTSW	7	46150867	missense	probably damaging	0.98
R5258:Abcc8	UTSW	7	46108387	missense	probably benign
R5258:Abcc8	UTSW	7	46157148	missense	probably benign	0.17
R5502:Abcc8	UTSW	7	46108838	missense	probably benign	0.00
R5518:Abcc8	UTSW	7	46120449	missense	probably benign
R5660:Abcc8	UTSW	7	46108404	missense	probably benign	0.15
R5902:Abcc8	UTSW	7	46115039	missense	probably benign
R5907:Abcc8	UTSW	7	46123906	missense	probably benign	0.01
R6023:Abcc8	UTSW	7	46108419	missense	possibly damaging	0.62
R6026:Abcc8	UTSW	7	46167000	missense	probably benign
R6078:Abcc8	UTSW	7	46105844	missense	probably benign	0.01
R6079:Abcc8	UTSW	7	46105844	missense	probably benign	0.01
R6103:Abcc8	UTSW	7	46119021	missense	possibly damaging	0.50
R6221:Abcc8	UTSW	7	46175450	missense	probably benign	0.01
R6511:Abcc8	UTSW	7	46150861	missense	possibly damaging	0.82
R7046:Abcc8	UTSW	7	46122940	missense	probably damaging	1.00
R7230:Abcc8	UTSW	7	46117388	missense	probably benign
R7287:Abcc8	UTSW	7	46113110	missense	probably damaging	1.00
R7292:Abcc8	UTSW	7	46135526	missense	probably benign
R7299:Abcc8	UTSW	7	46105498	missense	possibly damaging	0.62
R7693:Abcc8	UTSW	7	46178544	missense	probably damaging	0.99
R7704:Abcc8	UTSW	7	46106644	missense	probably damaging	0.98
R7911:Abcc8	UTSW	7	46154436	missense	probably damaging	1.00
R7947:Abcc8	UTSW	7	46105462	critical splice donor site	probably null
R8089:Abcc8	UTSW	7	46108356	missense	probably benign	0.00
R8120:Abcc8	UTSW	7	46136684	missense	probably benign	0.01
R8394:Abcc8	UTSW	7	46154553	missense	probably benign	0.03
R8731:Abcc8	UTSW	7	46154562	missense	probably damaging	0.98
R8848:Abcc8	UTSW	7	46117345	missense	possibly damaging	0.69
R8938:Abcc8	UTSW	7	46166994	missense
R9246:Abcc8	UTSW	7	46124865	missense	probably benign	0.00
R9293:Abcc8	UTSW	7	46106668	missense	probably benign	0.00
R9476:Abcc8	UTSW	7	46169846	missense	possibly damaging	0.92
R9516:Abcc8	UTSW	7	46138005	missense	probably benign	0.30
R9541:Abcc8	UTSW	7	46151655	missense	probably benign	0.04
R9701:Abcc8	UTSW	7	46136630	missense	probably benign
R9802:Abcc8	UTSW	7	46136630	missense	probably benign
U15987:Abcc8	UTSW	7	46105844	missense	probably benign	0.01
Z1088:Abcc8	UTSW	7	46138065	missense	probably benign
Z1176:Abcc8	UTSW	7	46106965	missense	possibly damaging	0.76
Z1177:Abcc8	UTSW	7	46122885	missense	probably benign	0.00
Z1177:Abcc8	UTSW	7	46154509	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGCACCAAGAATCTCTCG -3'
(R):5'- TCTTGGCAGCGGAAAGACAC -3'

Sequencing Primer
(F):5'- ACCAAGAATCTCTCGGGGGC -3'
(R):5'- GACACGCAGAGCCAGCAG -3'

Posted On

2019-10-07