Incidental Mutation 'IGL02598:Abcc4'
ID299962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc4
Ensembl Gene ENSMUSG00000032849
Gene NameATP-binding cassette, sub-family C (CFTR/MRP), member 4
SynonymsMRP4, D630049P08Rik, MOAT-B
Accession Numbers

Genbank: NM_001033336.3, NM_001163675.1, NM_001163676.1; Ensembl: ENSMUST00000036554

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02598
Quality Score
Status
Chromosome14
Chromosomal Location118482692-118706219 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 118668369 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 95 (L95*)
Ref Sequence ENSEMBL: ENSMUSP00000129677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]
Predicted Effect probably null
Transcript: ENSMUST00000036554
AA Change: L95*
SMART Domains Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: L95*

DomainStartEndE-ValueType
Pfam:ABC_membrane 92 365 4.5e-37 PFAM
AAA 437 610 5.71e-12 SMART
Pfam:ABC_membrane 714 993 4.2e-47 PFAM
AAA 1067 1251 2.02e-12 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166646
AA Change: L95*
SMART Domains Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: L95*

DomainStartEndE-ValueType
Pfam:ABC_membrane 98 290 4.1e-22 PFAM
AAA 362 535 5.71e-12 SMART
Pfam:ABC_membrane 638 922 4.6e-39 PFAM
AAA 992 1176 2.02e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228848
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 family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]
Allele List at MGI

All alleles(143) : Targeted, knock-out(2) Gene trapped(141)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Eps8l2 T G 7: 141,354,936 probably benign Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Masp1 T A 16: 23,459,631 M523L probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr1176 A T 2: 88,340,251 I229F possibly damaging Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Podxl T C 6: 31,524,420 E400G probably damaging Het
Prss54 C A 8: 95,565,709 V81F probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Vps45 A G 3: 96,031,042 L486P probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly damaging Het
Other mutations in Abcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Abcc4 APN 14 118528997 missense probably benign 0.03
IGL01152:Abcc4 APN 14 118599385 missense probably damaging 1.00
IGL01511:Abcc4 APN 14 118599341 missense probably benign 0.03
IGL01604:Abcc4 APN 14 118527994 missense possibly damaging 0.94
IGL01725:Abcc4 APN 14 118500829 missense probably damaging 1.00
IGL01828:Abcc4 APN 14 118553279 splice site probably benign
IGL02174:Abcc4 APN 14 118500742 missense probably damaging 0.98
IGL02391:Abcc4 APN 14 118553352 missense probably damaging 1.00
IGL02500:Abcc4 APN 14 118618926 missense possibly damaging 0.47
IGL02668:Abcc4 APN 14 118611475 missense probably damaging 1.00
IGL02708:Abcc4 APN 14 118500801 missense probably damaging 1.00
IGL02859:Abcc4 APN 14 118516500 missense probably damaging 1.00
IGL03249:Abcc4 APN 14 118627706 splice site probably benign
IGL03257:Abcc4 APN 14 118615211 missense probably benign 0.01
IGL03298:Abcc4 APN 14 118611468 missense probably damaging 1.00
1mM(1):Abcc4 UTSW 14 118629656 nonsense probably null
R0743:Abcc4 UTSW 14 118553288 missense possibly damaging 0.90
R0884:Abcc4 UTSW 14 118553288 missense possibly damaging 0.90
R1139:Abcc4 UTSW 14 118500840 missense possibly damaging 0.56
R1238:Abcc4 UTSW 14 118597639 splice site probably benign
R1588:Abcc4 UTSW 14 118534072 missense probably benign 0.01
R1678:Abcc4 UTSW 14 118594894 missense probably benign 0.08
R1785:Abcc4 UTSW 14 118553349 missense probably damaging 0.99
R1786:Abcc4 UTSW 14 118553349 missense probably damaging 0.99
R1961:Abcc4 UTSW 14 118611456 missense probably damaging 0.98
R1961:Abcc4 UTSW 14 118611459 missense possibly damaging 0.92
R1993:Abcc4 UTSW 14 118526282 missense probably benign 0.02
R2025:Abcc4 UTSW 14 118553325 missense probably benign 0.13
R3613:Abcc4 UTSW 14 118627451 critical splice donor site probably null
R3864:Abcc4 UTSW 14 118616415 missense probably benign
R4274:Abcc4 UTSW 14 118629622 missense probably damaging 1.00
R4459:Abcc4 UTSW 14 118599393 missense probably benign 0.11
R4601:Abcc4 UTSW 14 118632163 missense probably benign 0.00
R4665:Abcc4 UTSW 14 118529002 missense probably benign
R4678:Abcc4 UTSW 14 118627691 missense probably damaging 0.97
R4771:Abcc4 UTSW 14 118484384 missense probably benign 0.00
R4962:Abcc4 UTSW 14 118668399 missense probably benign 0.33
R4997:Abcc4 UTSW 14 118516503 nonsense probably null
R5273:Abcc4 UTSW 14 118594821 missense possibly damaging 0.76
R5526:Abcc4 UTSW 14 118631037 missense probably benign 0.10
R5652:Abcc4 UTSW 14 118618927 missense probably benign 0.00
R5820:Abcc4 UTSW 14 118604195 missense probably benign 0.14
R5873:Abcc4 UTSW 14 118526290 missense probably benign 0.00
R6008:Abcc4 UTSW 14 118490566 missense possibly damaging 0.63
R6080:Abcc4 UTSW 14 118669050 missense possibly damaging 0.75
R6222:Abcc4 UTSW 14 118529956 missense probably damaging 1.00
R6919:Abcc4 UTSW 14 118594894 missense probably benign 0.08
R6931:Abcc4 UTSW 14 118527988 missense probably damaging 0.99
R7013:Abcc4 UTSW 14 118526343 missense probably benign
R7055:Abcc4 UTSW 14 118594785 nonsense probably null
R7146:Abcc4 UTSW 14 118615181 missense probably damaging 1.00
R7365:Abcc4 UTSW 14 118627654 missense probably damaging 1.00
R7402:Abcc4 UTSW 14 118706075 missense probably damaging 1.00
R7438:Abcc4 UTSW 14 118616446 missense probably benign 0.01
R7528:Abcc4 UTSW 14 118529905 missense probably damaging 0.99
R7674:Abcc4 UTSW 14 118611487 missense probably damaging 1.00
R7769:Abcc4 UTSW 14 118615270 frame shift probably null
R7823:Abcc4 UTSW 14 118534072 missense probably benign 0.01
R7847:Abcc4 UTSW 14 118627480 missense probably damaging 1.00
R7989:Abcc4 UTSW 14 118599360 missense probably benign 0.05
R8044:Abcc4 UTSW 14 118615270 frame shift probably null
R8214:Abcc4 UTSW 14 118500841 missense probably benign 0.35
R8264:Abcc4 UTSW 14 118594842 missense possibly damaging 0.81
R8309:Abcc4 UTSW 14 118616392 missense probably damaging 1.00
R8369:Abcc4 UTSW 14 118627457 missense probably benign 0.02
Posted On2015-04-16