Mutagenetix > Incidental Mutations

Incidental Mutation 'R4870:Abcc8'

376503

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

042480-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.330) question?

Stock #

R4870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46104523-46180033 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 46107259 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 721 (R721*)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000033123
AA Change: R1400*

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: R1400*

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: ENSMUST00000209432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210637

Predicted Effect

probably null
Transcript: ENSMUST00000210655
AA Change: R721*

Predicted Effect

probably benign
Transcript: ENSMUST00000210770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211039

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	C	A	7: 34,284,887	V104L	possibly damaging	Het
Abcb11	A	T	2: 69,239,196	I1285N	probably damaging	Het
Alox8	T	C	11: 69,186,568	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,251,478		probably null	Het
Cdc14a	A	G	3: 116,423,460	I9T	probably benign	Het
Ceacam18	T	C	7: 43,641,904	C257R	probably damaging	Het
Cilp	T	C	9: 65,279,698	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,153,565		probably benign	Het
Csnk1d	A	T	11: 120,983,188		probably benign	Het
Cyp11b2	A	G	15: 74,853,146	S285P	probably benign	Het
Dip2b	T	A	15: 100,195,784		probably null	Het
Dmrt1	T	A	19: 25,505,855	M1K	probably null	Het
Dnajc14	T	C	10: 128,817,350	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,670,364	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,495,192	C772S	unknown	Het
F2rl1	A	T	13: 95,513,984	F130Y	probably damaging	Het
Galk2	C	G	2: 125,929,637	S194*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbp1l1	A	G	4: 116,573,517	T62A	probably benign	Het
H2-Q10	A	T	17: 35,470,460	D53V	probably damaging	Het
H2-T22	T	C	17: 36,039,032	K356R	probably benign	Het
Insrr	G	A	3: 87,811,604	V956M	probably damaging	Het
Ints7	A	G	1: 191,596,331	T239A	probably damaging	Het
Isl1	A	G	13: 116,308,270		probably benign	Het
Kcng2	A	G	18: 80,322,868	C90R	probably benign	Het
Kif3c	C	T	12: 3,401,735	P171S	probably damaging	Het
Knl1	A	G	2: 119,081,513	T1704A	probably benign	Het
Lats1	A	G	10: 7,705,785	Y778C	probably damaging	Het
Limd2	T	C	11: 106,159,389	M1V	probably null	Het
Mcm10	A	T	2: 5,004,159	I333N	probably damaging	Het
Mipep	T	A	14: 60,802,880	L283*	probably null	Het
Mixl1	A	G	1: 180,694,672	S215P	probably benign	Het
Mmp21	A	G	7: 133,678,677	L188P	probably damaging	Het
Mob1a	T	C	6: 83,340,239	S213P	probably benign	Het
Ndufaf6	T	C	4: 11,060,917	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Obscn	A	T	11: 59,136,206	L57Q	probably damaging	Het
Olfr1161	T	C	2: 88,025,460	L246P	probably damaging	Het
Olfr603	T	A	7: 103,383,633	D123V	probably damaging	Het
Pirb	T	A	7: 3,712,662	M839L	probably benign	Het
Plcl2	A	G	17: 50,607,226	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,949,033	N99S	probably benign	Het
Ptpro	A	G	6: 137,377,132	K169E	probably damaging	Het
Rita1	T	A	5: 120,611,383	K88N	probably damaging	Het
Rptn	A	T	3: 93,396,469	K370*	probably null	Het
Simc1	A	G	13: 54,539,763	D115G	probably null	Het
Stab1	T	A	14: 31,142,043	N136I	probably benign	Het
Syt4	T	A	18: 31,447,356		probably benign	Het
Sytl2	A	T	7: 90,388,898	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,729,493		probably benign	Het
Tenm2	A	T	11: 36,078,569	D847E	probably damaging	Het
Th	G	T	7: 142,894,097	D321E	probably benign	Het
Tmem44	A	T	16: 30,540,773	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,256,641	L178P	probably damaging	Het
Trp63	A	G	16: 25,866,218	*285W	probably null	Het
Tsen34	T	C	7: 3,694,381		probably benign	Het
Tssk4	C	T	14: 55,651,815	T256I	probably benign	Het
Ttc17	A	T	2: 94,366,609	N464K	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Ubn1	A	G	16: 5,077,313	E741G	probably damaging	Het
Urad	T	A	5: 147,315,454	I63F	probably damaging	Het
Vcan	T	C	13: 89,704,739	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,837,215	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,411,585	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,241,725	R478*	probably null	Het
Znfx1	A	C	2: 167,055,269	F578L	probably benign	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
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
R7411:Abcc8	UTSW	7	46165917	critical splice donor site	probably null
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
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'- TCAATGATGATGCGCCCTG -3'
(R):5'- AAGCTCAAACCCGTGTCCAG -3'

Sequencing Primer
(F):5'- TCAATGATGATGCGCCCTGTAGAG -3'
(R):5'- GTGTCCAGCCAGGCTAAAG -3'

Posted On

2016-03-17