Incidental Mutation 'R5866:Abcb8'
ID 454166
Institutional Source Beutler Lab
Gene Symbol Abcb8
Ensembl Gene ENSMUSG00000028973
Gene Name ATP-binding cassette, sub-family B member 8
Synonyms 4833412N02Rik
MMRRC Submission 044075-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R5866 (G1)
Quality Score 196
Status Validated
Chromosome 5
Chromosomal Location 24598661-24615052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24607101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 328 (A328V)
Ref Sequence ENSEMBL: ENSMUSP00000110729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073076] [ENSMUST00000115077] [ENSMUST00000138168]
AlphaFold Q9CXJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000073076
AA Change: A328V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: A328V

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 3.6e-48 PFAM
AAA 481 668 8.58e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115074
SMART Domains Protein: ENSMUSP00000110726
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 2.7e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115077
AA Change: A328V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: A328V

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Pfam:ABC_membrane 130 407 1.1e-56 PFAM
AAA 481 668 8.58e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136459
Predicted Effect probably benign
Transcript: ENSMUST00000138168
SMART Domains Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198166
Predicted Effect probably benign
Transcript: ENSMUST00000151535
SMART Domains Protein: ENSMUSP00000114767
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
Pfam:Zeta_toxin 6 68 7.5e-9 PFAM
Pfam:ABC_tran 8 124 1e-18 PFAM
Meta Mutation Damage Score 0.8072 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.7%
Validation Efficiency 91% (51/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Inducible cardiac specific deletion results in mild cardiomyopathy, mitochondrial defects and elevated heart mitochondrial iron levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,096,814 (GRCm39) probably benign Het
A530084C06Rik G A 13: 31,743,178 (GRCm39) A25V unknown Het
A730018C14Rik T C 12: 112,381,472 (GRCm39) noncoding transcript Het
Aasdh G T 5: 77,024,058 (GRCm39) A198E probably damaging Het
Ace3 C A 11: 105,888,330 (GRCm39) H347N probably damaging Het
Amy1 A T 3: 113,355,569 (GRCm39) M302K possibly damaging Het
Apol11b C T 15: 77,524,747 (GRCm39) V13M probably null Het
Arfgef2 T A 2: 166,678,177 (GRCm39) V131E possibly damaging Het
Arnt T A 3: 95,398,037 (GRCm39) probably benign Het
Atl1 T C 12: 69,972,785 (GRCm39) V35A probably damaging Het
BC061237 A T 14: 44,738,730 (GRCm39) D43V possibly damaging Het
Cracd A G 5: 77,005,384 (GRCm39) T582A unknown Het
Cyp4f17 T C 17: 32,725,887 (GRCm39) S7P probably benign Het
Ddx60 A G 8: 62,393,774 (GRCm39) Y70C probably damaging Het
Defb34 T C 8: 19,176,468 (GRCm39) L53P probably damaging Het
Dennd5a T C 7: 109,518,567 (GRCm39) T525A probably benign Het
Ephb3 T C 16: 21,030,129 (GRCm39) probably benign Het
Fam83d T A 2: 158,621,750 (GRCm39) probably null Het
Gramd2b A G 18: 56,607,108 (GRCm39) D74G possibly damaging Het
Hax1 A G 3: 89,903,035 (GRCm39) probably benign Het
Kcnh8 T C 17: 53,263,804 (GRCm39) I767T probably benign Het
Ldah G A 12: 8,270,614 (GRCm39) V5I possibly damaging Het
Nbeal2 A G 9: 110,460,560 (GRCm39) V1758A probably damaging Het
Nos1 A G 5: 118,033,967 (GRCm39) D363G probably damaging Het
Or14j6 C T 17: 38,214,700 (GRCm39) R88* probably null Het
Pdlim7 T A 13: 55,646,501 (GRCm39) D445V probably damaging Het
Phip T A 9: 82,772,203 (GRCm39) M1115L probably benign Het
Pigb C T 9: 72,936,966 (GRCm39) A215T probably damaging Het
Pkd1 A T 17: 24,799,935 (GRCm39) S2952C probably damaging Het
Plxnb2 T C 15: 89,051,775 (GRCm39) D148G probably damaging Het
Ppp1r36 T C 12: 76,473,579 (GRCm39) F70S possibly damaging Het
Rad52 G A 6: 119,889,907 (GRCm39) probably benign Het
Rasa2 T A 9: 96,427,823 (GRCm39) T681S probably benign Het
Rel A T 11: 23,692,724 (GRCm39) Y436* probably null Het
Sec16a G A 2: 26,309,650 (GRCm39) P2119S probably benign Het
Sema6d C A 2: 124,506,262 (GRCm39) T733K probably benign Het
Sf3b3 C T 8: 111,541,266 (GRCm39) A950T probably benign Het
Slc24a5 T A 2: 124,927,591 (GRCm39) F297I probably damaging Het
Spp2 A T 1: 88,340,025 (GRCm39) D122V possibly damaging Het
Stap1 A G 5: 86,225,906 (GRCm39) K60R probably benign Het
Stat1 A G 1: 52,178,423 (GRCm39) K286E probably damaging Het
Stn1 T C 19: 47,505,568 (GRCm39) T129A probably benign Het
Tagap C T 17: 8,152,285 (GRCm39) T490I probably damaging Het
Tbc1d2 T C 4: 46,637,715 (GRCm39) E177G possibly damaging Het
Tln2 A T 9: 67,174,150 (GRCm39) L841Q probably damaging Het
Tmem59 T A 4: 107,047,754 (GRCm39) M71K probably damaging Het
Ugt2a3 G A 5: 87,484,406 (GRCm39) T206I probably damaging Het
Utp20 G A 10: 88,608,421 (GRCm39) H1539Y possibly damaging Het
Vps13a T C 19: 16,657,387 (GRCm39) N1794S probably benign Het
Vsig10 A T 5: 117,490,814 (GRCm39) probably null Het
Zfp97 T A 17: 17,365,087 (GRCm39) F195L possibly damaging Het
Other mutations in Abcb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02349:Abcb8 APN 5 24,611,462 (GRCm39) missense probably benign
IGL02819:Abcb8 APN 5 24,611,422 (GRCm39) missense probably benign
Thumbs UTSW 5 24,607,101 (GRCm39) missense probably damaging 0.99
R0320:Abcb8 UTSW 5 24,605,788 (GRCm39) missense probably damaging 1.00
R0458:Abcb8 UTSW 5 24,611,231 (GRCm39) missense probably benign 0.02
R0927:Abcb8 UTSW 5 24,607,317 (GRCm39) missense probably damaging 1.00
R1120:Abcb8 UTSW 5 24,613,818 (GRCm39) critical splice donor site probably null
R1553:Abcb8 UTSW 5 24,613,748 (GRCm39) missense probably damaging 1.00
R3738:Abcb8 UTSW 5 24,605,619 (GRCm39) missense probably benign 0.00
R3739:Abcb8 UTSW 5 24,605,619 (GRCm39) missense probably benign 0.00
R4035:Abcb8 UTSW 5 24,605,619 (GRCm39) missense probably benign 0.00
R4303:Abcb8 UTSW 5 24,606,055 (GRCm39) missense probably damaging 1.00
R4930:Abcb8 UTSW 5 24,605,779 (GRCm39) missense possibly damaging 0.89
R5369:Abcb8 UTSW 5 24,605,137 (GRCm39) missense possibly damaging 0.75
R5370:Abcb8 UTSW 5 24,605,137 (GRCm39) missense possibly damaging 0.75
R5485:Abcb8 UTSW 5 24,605,159 (GRCm39) missense probably benign 0.01
R5505:Abcb8 UTSW 5 24,606,036 (GRCm39) missense probably damaging 1.00
R5627:Abcb8 UTSW 5 24,605,137 (GRCm39) missense possibly damaging 0.75
R5633:Abcb8 UTSW 5 24,608,107 (GRCm39) missense probably damaging 1.00
R5693:Abcb8 UTSW 5 24,605,137 (GRCm39) missense possibly damaging 0.75
R5761:Abcb8 UTSW 5 24,610,879 (GRCm39) intron probably benign
R5995:Abcb8 UTSW 5 24,605,137 (GRCm39) missense possibly damaging 0.75
R5996:Abcb8 UTSW 5 24,605,137 (GRCm39) missense possibly damaging 0.75
R6621:Abcb8 UTSW 5 24,599,508 (GRCm39) missense probably benign
R7407:Abcb8 UTSW 5 24,605,674 (GRCm39) missense probably benign 0.00
R8026:Abcb8 UTSW 5 24,611,723 (GRCm39) missense probably damaging 1.00
R8220:Abcb8 UTSW 5 24,611,783 (GRCm39) missense possibly damaging 0.70
R9162:Abcb8 UTSW 5 24,611,732 (GRCm39) missense probably damaging 0.98
R9196:Abcb8 UTSW 5 24,605,644 (GRCm39) missense probably benign 0.00
R9372:Abcb8 UTSW 5 24,605,114 (GRCm39) missense probably benign
R9452:Abcb8 UTSW 5 24,612,382 (GRCm39) missense probably null 1.00
X0026:Abcb8 UTSW 5 24,606,044 (GRCm39) missense possibly damaging 0.95
Z1176:Abcb8 UTSW 5 24,605,993 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTGGGATTCTTGACTTGTCTC -3'
(R):5'- TCACAGTTGAAAGCGATGTTGG -3'

Sequencing Primer
(F):5'- GGATTCTTGACTTGTCTCCCTTGG -3'
(R):5'- ATGTTGGAGAGCCCTTGGAAC -3'
Posted On 2017-02-10