Incidental Mutation 'R0458:Abcb8'
ID 41293
Institutional Source Beutler Lab
Gene Symbol Abcb8
Ensembl Gene ENSMUSG00000028973
Gene Name ATP-binding cassette, sub-family B member 8
Synonyms 4833412N02Rik
MMRRC Submission 038658-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R0458 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24598661-24615052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24611231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 455 (T455I)
Ref Sequence ENSEMBL: ENSMUSP00000110729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073076] [ENSMUST00000115077]
AlphaFold Q9CXJ4
Predicted Effect probably benign
Transcript: ENSMUST00000073076
AA Change: T455I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: T455I

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 benign
Transcript: ENSMUST00000115077
AA Change: T455I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: T455I

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: ENSMUST00000136459
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
Predicted Effect probably benign
Transcript: ENSMUST00000198166
Meta Mutation Damage Score 0.1472 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.9%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (79/79)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik A G 1: 85,856,747 (GRCm39) E8G unknown Het
9130008F23Rik T C 17: 41,191,127 (GRCm39) T101A probably benign Het
Abcb9 C A 5: 124,220,209 (GRCm39) probably null Het
Akp3 T G 1: 87,054,259 (GRCm39) Y265* probably null Het
Atp6v1b1 A T 6: 83,729,390 (GRCm39) D109V probably damaging Het
Aurka C A 2: 172,212,366 (GRCm39) E4* probably null Het
Cacna1g T A 11: 94,300,266 (GRCm39) Q2168L probably damaging Het
Cdc45 T A 16: 18,600,722 (GRCm39) probably benign Het
Cfap61 T C 2: 145,850,837 (GRCm39) V325A probably benign Het
Clasp2 T A 9: 113,735,292 (GRCm39) probably null Het
Crim1 T A 17: 78,620,655 (GRCm39) I365N probably damaging Het
Dcaf8 A G 1: 172,001,610 (GRCm39) N269S probably benign Het
Dnaaf5 T C 5: 139,147,633 (GRCm39) V399A possibly damaging Het
Ear2 A G 14: 44,340,705 (GRCm39) Y121C probably damaging Het
Eef2k T C 7: 120,502,513 (GRCm39) Y692H probably damaging Het
Elavl2 A T 4: 91,197,104 (GRCm39) probably benign Het
Epn2 C A 11: 61,437,281 (GRCm39) R97L possibly damaging Het
Fam243 T C 16: 92,117,995 (GRCm39) I98V probably benign Het
Fzd6 G A 15: 38,894,676 (GRCm39) A281T probably damaging Het
Garem2 T A 5: 30,319,180 (GRCm39) I214N probably damaging Het
Glg1 A G 8: 111,887,238 (GRCm39) probably benign Het
Golm1 T C 13: 59,812,178 (GRCm39) E48G probably damaging Het
Gpaa1 G T 15: 76,216,233 (GRCm39) R12L probably benign Het
Gstm1 T A 3: 107,924,679 (GRCm39) T34S probably benign Het
Gtf3c1 G A 7: 125,243,306 (GRCm39) P1766L possibly damaging Het
Herc1 A T 9: 66,383,663 (GRCm39) Q3709L probably benign Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Icam1 A G 9: 20,939,157 (GRCm39) probably null Het
Itga9 T C 9: 118,510,096 (GRCm39) probably null Het
Kif15 T C 9: 122,838,424 (GRCm39) F1121L probably benign Het
Klhl30 T A 1: 91,288,718 (GRCm39) probably benign Het
Ldlrad1 T C 4: 107,073,387 (GRCm39) C141R probably damaging Het
Lemd2 T C 17: 27,409,627 (GRCm39) D508G probably damaging Het
Lilra5 A C 7: 4,241,218 (GRCm39) T52P probably benign Het
Lrtm2 G A 6: 119,294,229 (GRCm39) P301S probably damaging Het
Mcoln2 A G 3: 145,855,768 (GRCm39) probably benign Het
Mkrn2os A G 6: 115,563,631 (GRCm39) S135P probably damaging Het
Mlxipl T C 5: 135,162,224 (GRCm39) V607A probably benign Het
Mmadhc T C 2: 50,171,173 (GRCm39) Y213C probably benign Het
Mpo C A 11: 87,687,123 (GRCm39) A223E probably benign Het
Mthfd2l C G 5: 91,168,036 (GRCm39) I310M probably damaging Het
Muc5b C A 7: 141,418,709 (GRCm39) A3885D probably benign Het
Mvp A G 7: 126,597,663 (GRCm39) W152R probably damaging Het
Nmur2 A T 11: 55,931,394 (GRCm39) F106I possibly damaging Het
Nr3c2 T A 8: 77,636,167 (GRCm39) F423I probably damaging Het
Or1l8 A G 2: 36,817,349 (GRCm39) V259A probably damaging Het
Or5m5 A G 2: 85,814,600 (GRCm39) S139G probably benign Het
Or8c16 G A 9: 38,130,344 (GRCm39) C75Y probably damaging Het
Or9q1 G T 19: 13,805,593 (GRCm39) H56N probably benign Het
Pappa A G 4: 65,074,119 (GRCm39) I224M probably damaging Het
Prex1 A C 2: 166,427,743 (GRCm39) S800A probably damaging Het
Prkaca T C 8: 84,721,911 (GRCm39) probably benign Het
Ptpru A T 4: 131,526,986 (GRCm39) V662E possibly damaging Het
Rabep1 T A 11: 70,777,824 (GRCm39) probably null Het
Rbms2 C T 10: 127,987,058 (GRCm39) C50Y probably damaging Het
Rd3 C T 1: 191,709,414 (GRCm39) P25S probably damaging Het
Rnf148 T G 6: 23,654,256 (GRCm39) I247L probably benign Het
Sf3b3 A G 8: 111,538,768 (GRCm39) probably benign Het
Slc35c1 A T 2: 92,284,858 (GRCm39) F252Y probably damaging Het
Slc38a11 T C 2: 65,193,813 (GRCm39) probably null Het
Snx6 G T 12: 54,814,921 (GRCm39) Y17* probably null Het
Sox6 C A 7: 115,089,029 (GRCm39) R611L probably damaging Het
Spata13 G A 14: 60,929,492 (GRCm39) R350H probably damaging Het
Sppl2a G T 2: 126,746,879 (GRCm39) A483D probably damaging Het
Stat1 C T 1: 52,188,211 (GRCm39) probably benign Het
Tab2 A T 10: 7,795,319 (GRCm39) Y314N probably damaging Het
Tor1aip1 T C 1: 155,906,153 (GRCm39) N213S probably damaging Het
Trim39 T C 17: 36,572,404 (GRCm39) K300E probably damaging Het
Tubal3 T C 13: 3,983,137 (GRCm39) S306P probably damaging Het
Ufm1 A G 3: 53,768,655 (GRCm39) L33P probably damaging Het
Washc4 G A 10: 83,382,663 (GRCm39) V26I possibly damaging Het
Wfs1 A G 5: 37,126,013 (GRCm39) Y293H probably damaging Het
Zbtb41 T C 1: 139,351,214 (GRCm39) V109A probably damaging Het
Zfp667 T C 7: 6,307,844 (GRCm39) S171P probably benign Het
Zkscan5 T A 5: 145,142,281 (GRCm39) H59Q probably damaging Het
Zswim8 C T 14: 20,768,965 (GRCm39) R1128W probably 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
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
R5866:Abcb8 UTSW 5 24,607,101 (GRCm39) missense probably damaging 0.99
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'- TGACTCCACCCTATGAAGGGTCTG -3'
(R):5'- TGAAGTCCTTGAGCACATTGAAGCC -3'

Sequencing Primer
(F):5'- CCTGCCTGGTAGCAGAAG -3'
(R):5'- AGCACATTGAAGCCAGGTC -3'
Posted On 2013-05-23