Incidental Mutation 'IGL02819:Abcb8'
ID 360903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcb8
Ensembl Gene ENSMUSG00000028973
Gene Name ATP-binding cassette, sub-family B member 8
Synonyms 4833412N02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # IGL02819
Quality Score
Status
Chromosome 5
Chromosomal Location 24598661-24615052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24611422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 470 (N470K)
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: N470K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: N470K

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: N470K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: N470K

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 unknown
Transcript: ENSMUST00000151535
AA Change: N5K
SMART Domains Protein: ENSMUSP00000114767
Gene: ENSMUSG00000028973
AA Change: N5K

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
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
Atp5f1b T C 10: 127,919,821 (GRCm39) I63T probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in Abcb8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02349:Abcb8 APN 5 24,611,462 (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
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
Posted On 2015-12-18