Incidental Mutation 'R3906:Abcb7'
ID 309211
Institutional Source Beutler Lab
Gene Symbol Abcb7
Ensembl Gene ENSMUSG00000031333
Gene Name ATP-binding cassette, sub-family B member 7
Synonyms Abc7
MMRRC Submission 040813-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R3906 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 103324263-103457462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103327765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 715 (Q715K)
Ref Sequence ENSEMBL: ENSMUSP00000033695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033695]
AlphaFold Q61102
Predicted Effect probably benign
Transcript: ENSMUST00000033695
AA Change: Q715K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033695
Gene: ENSMUSG00000031333
AA Change: Q715K

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (36/37)
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
Abca1 A G 4: 53,067,151 (GRCm39) V1352A possibly damaging Het
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ank2 A G 3: 126,810,547 (GRCm39) L513P probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Cd1d1 A G 3: 86,906,063 (GRCm39) W71R probably damaging Het
Cdhr3 A G 12: 33,103,427 (GRCm39) F397L probably damaging Het
Ces2a A G 8: 105,465,940 (GRCm39) I325V probably benign Het
Ctsq C T 13: 61,186,585 (GRCm39) V140M probably damaging Het
Cyp4f18 A G 8: 72,754,926 (GRCm39) probably benign Het
Ddi2 T C 4: 141,411,592 (GRCm39) D440G probably benign Het
Dsg3 G A 18: 20,671,556 (GRCm39) G754R probably damaging Het
Endod1 T A 9: 14,292,151 (GRCm39) Y39F probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Fpr2 A G 17: 18,113,811 (GRCm39) K269R probably benign Het
Frk T G 10: 34,460,052 (GRCm39) L216V probably benign Het
Gan G A 8: 117,920,873 (GRCm39) V370M probably damaging Het
Grik1 A G 16: 87,803,337 (GRCm39) I285T probably benign Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Kbtbd8 T A 6: 95,103,565 (GRCm39) Y405N probably damaging Het
Kcnj4 G T 15: 79,369,946 (GRCm39) H11Q probably benign Het
Kif26a T A 12: 112,143,324 (GRCm39) S1193T probably benign Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Lrrk1 G T 7: 65,944,651 (GRCm39) T653K possibly damaging Het
Meiob A G 17: 25,046,922 (GRCm39) Y182C probably benign Het
Myh6 T C 14: 55,194,412 (GRCm39) D739G probably benign Het
Ninl T C 2: 150,822,039 (GRCm39) D21G probably damaging Het
Or11g27 C T 14: 50,771,211 (GRCm39) T114I probably benign Het
Or9i16 C T 19: 13,865,070 (GRCm39) C168Y probably damaging Het
Pacsin2 A C 15: 83,263,256 (GRCm39) V125G probably damaging Het
Pfas G A 11: 68,879,112 (GRCm39) probably benign Het
Pla2g4f C T 2: 120,130,980 (GRCm39) R825Q probably benign Het
Prkd1 A T 12: 50,435,209 (GRCm39) V506E possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Ryr2 T A 13: 11,753,095 (GRCm39) D1742V possibly damaging Het
Szt2 G A 4: 118,235,466 (GRCm39) probably benign Het
Ugt8a T C 3: 125,708,631 (GRCm39) T160A possibly damaging Het
Xrcc6 A G 15: 81,913,772 (GRCm39) T378A probably benign Het
Other mutations in Abcb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Abcb7 APN X 103,339,584 (GRCm39) missense possibly damaging 0.54
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
R3908:Abcb7 UTSW X 103,327,765 (GRCm39) missense probably benign
R4598:Abcb7 UTSW X 103,366,988 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGGTTCTACTTCAGTGCAAATGC -3'
(R):5'- ACAGGTCCTCCAAATAGTTCCTC -3'

Sequencing Primer
(F):5'- CTTCAGTGCAAATGCTAATGCC -3'
(R):5'- AGGTAGCTGAACGTGGTA -3'
Posted On 2015-04-17