Incidental Mutation 'IGL03197:Abcb7'
ID412869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcb7
Ensembl Gene ENSMUSG00000031333
Gene NameATP-binding cassette, sub-family B (MDR/TAP), member 7
SynonymsAbc7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.925) question?
Stock #IGL03197
Quality Score
Status
ChromosomeX
Chromosomal Location104280657-104413856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 104284191 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 704 (M704K)
Ref Sequence ENSEMBL: ENSMUSP00000033695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033695]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033695
AA Change: M704K

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033695
Gene: ENSMUSG00000031333
AA Change: M704K

DomainStartEndE-ValueType
low complexity region 42 55 N/A INTRINSIC
Pfam:ABC_membrane 140 424 5.6e-39 PFAM
AAA 497 683 1e-16 SMART
low complexity region 723 739 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
PHENOTYPE: Hemizygous male and heterozygous female mice carrying a maternally inherited null allele display prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik A G 8: 116,971,802 W189R probably damaging Het
Anp32e A G 3: 95,937,052 D71G probably damaging Het
Asphd1 T C 7: 126,946,126 D353G probably damaging Het
Baz2b T C 2: 59,901,554 K2047E possibly damaging Het
Cyp2c39 G T 19: 39,566,917 V394F probably damaging Het
Ddx43 G A 9: 78,418,120 M482I probably benign Het
Dnah2 A T 11: 69,459,263 V2348E probably damaging Het
Fam135a A G 1: 24,044,182 F304L probably damaging Het
Gabra3 A G X: 72,540,128 I66T possibly damaging Het
Gm5861 T G 5: 11,183,113 N14K probably damaging Het
Gm8857 T A 5: 10,950,534 probably benign Het
Irf4 A T 13: 30,763,520 probably benign Het
Kif11 A G 19: 37,407,027 D578G probably benign Het
Lrig1 A G 6: 94,606,118 S1006P probably benign Het
Mfsd14a A C 3: 116,636,363 S307A probably benign Het
Mill1 A G 7: 18,264,665 T267A probably benign Het
Nfyc C A 4: 120,773,761 D62Y probably damaging Het
Nin T C 12: 70,026,810 T1190A probably benign Het
Nupl2 T C 5: 24,167,465 S84P probably damaging Het
Ociad1 T C 5: 73,294,332 S15P probably benign Het
Olfr1199 A T 2: 88,756,201 I158K probably damaging Het
Olfr822 A T 10: 130,074,679 I90F probably damaging Het
Olfr843 A G 9: 19,248,802 I199T probably benign Het
Pcdhb11 T A 18: 37,422,424 L269* probably null Het
Pigo A C 4: 43,022,103 M352R possibly damaging Het
Plch1 T C 3: 63,753,170 M343V probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prkag1 A G 15: 98,815,177 probably benign Het
Rasa4 A G 5: 136,102,012 K379R probably damaging Het
Rraga G A 4: 86,576,276 A120T probably damaging Het
Serpina3a C T 12: 104,116,241 A91V probably damaging Het
Sik2 T C 9: 50,895,773 E779G probably damaging Het
Slc15a3 T G 19: 10,855,079 probably null Het
Smc1b C T 15: 85,070,863 D1063N possibly damaging Het
Srsf12 G A 4: 33,231,040 G183E probably damaging Het
Taf8 A G 17: 47,498,202 S112P probably benign Het
Trhde A G 10: 114,413,308 L851P probably benign Het
Wapl G T 14: 34,745,631 V1182F possibly damaging Het
Zfp326 A G 5: 105,891,193 I231V probably benign Het
Other mutations in Abcb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Abcb7 APN X 104295978 missense possibly damaging 0.54
R1851:Abcb7 UTSW X 104305399 missense probably benign 0.00
R1852:Abcb7 UTSW X 104305399 missense probably benign 0.00
R1892:Abcb7 UTSW X 104342536 missense probably damaging 1.00
R1893:Abcb7 UTSW X 104342536 missense probably damaging 1.00
R3906:Abcb7 UTSW X 104284159 missense probably benign
R3908:Abcb7 UTSW X 104284159 missense probably benign
R4598:Abcb7 UTSW X 104323382 missense probably benign 0.05
Posted On2016-08-02