Mutagenetix > Incidental Mutations

Incidental Mutation 'R0391:Abcc8'

31690

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

038597-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46104523-46180033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 46122173 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 838 (G838A)

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000033123
AA Change: G838A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: G838A

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: ENSMUST00000210110

Predicted Effect

unknown
Transcript: ENSMUST00000210655
AA Change: G159A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211767

Meta Mutation Damage Score

0.8831

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570		probably benign	Het
Mpp4	A	T	1: 59,143,829		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Sympk	T	A	7: 19,046,849	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly damaging	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
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
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'- TGGGAATCCCAGAGTGGGTTATCAG -3'
(R):5'- TCCTTCATCCAGGAGAGAACAGTTCAG -3'

Sequencing Primer
(F):5'- tgatgatggtggtgatgatgg -3'
(R):5'- CAGTTTGGAGGAGCATTTACAC -3'

Posted On

2013-04-24