Incidental Mutation 'IGL00801:Abcb7'
ID 8535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcb7
Ensembl Gene ENSMUSG00000031333
Gene Name ATP-binding cassette, sub-family B member 7
Synonyms Abc7
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # IGL00801
Quality Score
Status
Chromosome X
Chromosomal Location 103324263-103457462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103339584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 562 (I562V)
Ref Sequence ENSEMBL: ENSMUSP00000033695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033695]
AlphaFold Q61102
Predicted Effect possibly damaging
Transcript: ENSMUST00000033695
AA Change: I562V

PolyPhen 2 Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033695
Gene: ENSMUSG00000031333
AA Change: I562V

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,928,160 (GRCm39) T524A possibly damaging Het
Anapc4 T A 5: 53,014,553 (GRCm39) V472D probably damaging Het
Arhgef37 A G 18: 61,632,905 (GRCm39) Y511H probably damaging Het
Atxn3 A G 12: 101,892,767 (GRCm39) S316P possibly damaging Het
B3galt1 A T 2: 67,948,320 (GRCm39) T12S possibly damaging Het
Ccn1 T A 3: 145,354,365 (GRCm39) D182V probably damaging Het
Cdc14a G T 3: 116,088,493 (GRCm39) S394* probably null Het
Celsr3 T C 9: 108,719,775 (GRCm39) V2458A probably benign Het
Dapk1 C T 13: 60,909,062 (GRCm39) T1225I probably benign Het
Fyb1 A G 15: 6,674,305 (GRCm39) K647R possibly damaging Het
Gabra5 C A 7: 57,138,736 (GRCm39) W104L probably damaging Het
Gjb6 A T 14: 57,361,498 (GRCm39) N254K possibly damaging Het
Golga4 T A 9: 118,367,994 (GRCm39) L371Q probably damaging Het
Gucy2g C T 19: 55,221,535 (GRCm39) R322Q probably benign Het
Hnf1b C T 11: 83,746,750 (GRCm39) A122V probably damaging Het
Insrr C T 3: 87,721,115 (GRCm39) L1089F probably damaging Het
Knop1 A G 7: 118,451,867 (GRCm39) V284A probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Map1b C T 13: 99,566,605 (GRCm39) E2039K unknown Het
Myof A G 19: 37,974,521 (GRCm39) I206T probably damaging Het
Nf1 A T 11: 79,319,526 (GRCm39) probably benign Het
Nol8 A G 13: 49,815,704 (GRCm39) D586G probably benign Het
Nudt5 T C 2: 5,871,168 (GRCm39) F166S probably damaging Het
Ociad1 T A 5: 73,461,909 (GRCm39) Y87N probably damaging Het
Qtrt2 T C 16: 43,701,552 (GRCm39) K3E probably damaging Het
Rictor G A 15: 6,824,015 (GRCm39) V1627I probably damaging Het
Skint2 A T 4: 112,483,188 (GRCm39) M198L possibly damaging Het
Slitrk5 A G 14: 111,918,097 (GRCm39) M574V probably benign Het
Thbs1 A G 2: 117,953,454 (GRCm39) D957G probably damaging Het
Tmem198b A C 10: 128,639,014 (GRCm39) L43R probably damaging Het
Trpa1 A G 1: 14,961,557 (GRCm39) M627T probably damaging Het
Zdbf2 T C 1: 63,342,197 (GRCm39) F192S possibly damaging Het
Zfp961 T G 8: 72,719,732 (GRCm39) M54R probably damaging Het
Other mutations in Abcb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03197:Abcb7 APN X 103,327,797 (GRCm39) missense possibly damaging 0.74
R1851:Abcb7 UTSW X 103,349,005 (GRCm39) missense probably benign 0.00
R1852:Abcb7 UTSW X 103,349,005 (GRCm39) missense probably benign 0.00
R1892:Abcb7 UTSW X 103,386,142 (GRCm39) missense probably damaging 1.00
R1893:Abcb7 UTSW X 103,386,142 (GRCm39) missense probably damaging 1.00
R3906:Abcb7 UTSW X 103,327,765 (GRCm39) missense probably benign
R3908:Abcb7 UTSW X 103,327,765 (GRCm39) missense probably benign
R4598:Abcb7 UTSW X 103,366,988 (GRCm39) missense probably benign 0.05
Posted On 2012-12-06