Mutagenetix > Incidental Mutations

Incidental Mutation 'R7292:Abcc8'

566489

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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.596) question?

Stock #

R7292 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46104523-46180033 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46135526 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 726 (T726I)

Ref Sequence

ENSEMBL: ENSMUSP00000033123 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000033123
AA Change: T726I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136
AA Change: T726I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
1700010I14Rik	T	A	17: 8,997,029	C322*	probably null	Het
1700019N19Rik	A	T	19: 58,789,107	Y90*	probably null	Het
2310035C23Rik	G	T	1: 105,721,416		probably null	Het
4930553M12Rik	G	A	4: 88,868,331	R17C	unknown	Het
Adamts18	T	C	8: 113,709,645	T981A	probably benign	Het
Adgrb3	A	G	1: 25,531,876	C507R	probably damaging	Het
Bloc1s6	T	A	2: 122,742,695	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,191,173	R135W	probably damaging	Het
Cdca2	G	T	14: 67,677,877	Y644*	probably null	Het
Ceacam10	G	T	7: 24,778,350	G97C	probably damaging	Het
Cenpf	G	A	1: 189,650,694	L2668F	probably damaging	Het
Cog4	A	G	8: 110,881,828	D774G	probably damaging	Het
Col11a2	G	A	17: 34,051,508	G511E	unknown	Het
Col19a1	T	A	1: 24,530,008	I220F	unknown	Het
Cubn	G	T	2: 13,424,739	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,150,317	L24P	unknown	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,258,655	E256*	probably null	Het
Gm4869	A	G	5: 140,471,670	D398G	probably benign	Het
Gm5580	G	A	6: 116,551,477	R105Q	probably damaging	Het
Gm5930	A	G	14: 44,336,557	S108P	probably damaging	Het
Gnl3	A	G	14: 31,013,232	S468P	probably benign	Het
Gzmb	A	T	14: 56,262,119	S11T	probably benign	Het
Hmcn1	T	C	1: 150,733,129		probably null	Het
Ifi206	A	G	1: 173,473,862	L750P	unknown	Het
Ifi213	T	A	1: 173,595,125	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,059,768	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,491,757		probably null	Het
Itpr2	G	T	6: 146,158,949	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 122,880,791	F862S	probably damaging	Het
Meis1	A	G	11: 19,011,351	I174T	probably damaging	Het
Micu3	A	G	8: 40,382,125	Q507R	probably benign	Het
Mpp4	C	T	1: 59,143,810	E313K	possibly damaging	Het
Nfatc4	G	A	14: 55,825,055	E7K	probably damaging	Het
Olfr466	T	A	13: 65,152,842	V206D	possibly damaging	Het
Olfr828	A	T	9: 18,816,190	Y35N	probably damaging	Het
Osbpl5	G	A	7: 143,701,278	P470S	probably damaging	Het
Pak6	A	G	2: 118,693,591	D409G	possibly damaging	Het
Pkhd1l1	T	A	15: 44,498,590	M553K	probably benign	Het
Ppp2r3a	T	C	9: 101,212,672	N151D	probably damaging	Het
Prdm12	T	C	2: 31,643,850	W160R	probably damaging	Het
Prdm2	G	A	4: 143,132,901	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,807,370		probably null	Het
Prob1	G	A	18: 35,654,550	P217L	possibly damaging	Het
Ramp1	A	C	1: 91,196,777	H20P	probably benign	Het
Rbm47	T	A	5: 66,026,750	E170V	possibly damaging	Het
Rpn1	C	T	6: 88,090,084	P142L	probably damaging	Het
Rsu1	C	T	2: 13,170,016	R238H	probably damaging	Het
Sh3rf3	C	T	10: 59,071,973	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,814,604	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,572,485	S245R	probably damaging	Het
Spcs3	T	C	8: 54,526,519	N76D	probably benign	Het
Svep1	T	C	4: 58,111,395	T1075A	possibly damaging	Het
Sympk	A	T	7: 19,036,030	I211F	probably benign	Het
Tk1	C	T	11: 117,825,777	M1I	probably null	Het
Tln2	A	G	9: 67,346,461	V776A	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,680,800	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630	S508C	probably benign	Het
Trank1	A	C	9: 111,377,870	R1690S	probably benign	Het
Trio	T	A	15: 27,828,351	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,605,498	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,541,438	D552E	probably benign	Het
Zw10	T	C	9: 49,061,191	V186A	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
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
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
U15987:Abcc8	UTSW	7	46105844	missense	probably benign	0.01
Z1088:Abcc8	UTSW	7	46138065	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACACAGCAAGGGTTAAATGG -3'
(R):5'- ATGGAGCTTCCCAGGGTTTC -3'

Sequencing Primer
(F):5'- GTTAAATGGACACGGATGATGATAC -3'
(R):5'- CTTCCCAGGGTTTCCAGGTG -3'

Posted On

2019-06-26