Incidental Mutation 'IGL02403:Abcc8'
ID291983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc8
Ensembl Gene ENSMUSG00000040136
Gene NameATP-binding cassette, sub-family C (CFTR/MRP), member 8
SynonymsD930031B21Rik, SUR1, Sur
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.541) question?
Stock #IGL02403
Quality Score
Status
Chromosome7
Chromosomal Location46104523-46180033 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to G at 46105803 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033123]
Predicted Effect probably null
Transcript: ENSMUST00000033123
SMART Domains Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000209432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210637
Predicted Effect probably null
Transcript: ENSMUST00000210655
Predicted Effect probably null
Transcript: ENSMUST00000210770
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A G 4: 35,205,887 probably benign Het
4932438A13Rik T C 3: 37,030,664 S3922P probably benign Het
Alk C A 17: 71,901,393 G944V probably damaging Het
Alox15 T C 11: 70,345,901 D446G probably damaging Het
Apof A G 10: 128,269,484 probably null Het
Arhgap28 T G 17: 67,873,159 D81A possibly damaging Het
Bms1 T C 6: 118,405,224 E451G possibly damaging Het
Capn13 T A 17: 73,351,426 T216S possibly damaging Het
Ccdc28a A T 10: 18,214,183 probably benign Het
Cdip1 T C 16: 4,768,812 T150A probably damaging Het
Chrnb3 T A 8: 27,393,808 L191Q probably damaging Het
Chst2 G A 9: 95,405,232 Q354* probably null Het
Cldn11 T C 3: 31,150,196 V16A probably benign Het
Cyp4f18 A G 8: 71,998,228 M198T probably damaging Het
Dhx30 A G 9: 110,091,519 L280P probably damaging Het
Disc1 A G 8: 125,135,519 probably benign Het
Dnm1l T C 16: 16,336,976 I172V possibly damaging Het
Edem2 T C 2: 155,709,063 D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 T3M probably benign Het
Fdxacb1 T A 9: 50,771,563 S275R possibly damaging Het
Gm7275 C A 16: 48,073,628 noncoding transcript Het
Helz2 A T 2: 181,231,022 I2468N probably damaging Het
Ift46 C A 9: 44,786,879 P213Q probably damaging Het
Irf2 G T 8: 46,846,172 V334F probably damaging Het
Lrp4 T A 2: 91,508,582 V1786E probably benign Het
Mfsd5 A G 15: 102,280,538 Y115C probably benign Het
Muc5ac A G 7: 141,803,450 R1154G possibly damaging Het
Nek4 G T 14: 30,964,051 E314* probably null Het
Oas2 C T 5: 120,748,750 G117D possibly damaging Het
Olfr1057 A T 2: 86,374,523 D296E probably benign Het
Pikfyve C T 1: 65,244,504 H767Y probably damaging Het
Pkhd1 T C 1: 20,562,418 H591R probably benign Het
Pygl T A 12: 70,194,258 I672F probably benign Het
Rft1 G T 14: 30,660,321 Het
Ripor3 A C 2: 167,989,330 L517R probably damaging Het
Serpina3b A G 12: 104,130,462 M1V probably null Het
Sgce C T 6: 4,694,059 R263Q probably damaging Het
Stard6 A T 18: 70,496,112 probably null Het
Them4 T C 3: 94,323,671 F117L probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttc26 A G 6: 38,409,438 M365V possibly damaging Het
Vmn2r116 G T 17: 23,387,364 D417Y probably damaging Het
Other mutations in Abcc8
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02411:Abcc8 APN 7 46107007 missense probably damaging 1.00
IGL02653:Abcc8 APN 7 46115767
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
U15987:Abcc8 UTSW 7 46105844 missense probably benign 0.01
Z1088:Abcc8 UTSW 7 46138065 missense probably benign
Posted On2015-04-16