Incidental Mutation 'R0927:Abcb8'
ID 80495
Institutional Source Beutler Lab
Gene Symbol Abcb8
Ensembl Gene ENSMUSG00000028973
Gene Name ATP-binding cassette, sub-family B member 8
Synonyms 4833412N02Rik
MMRRC Submission 039074-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R0927 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 24598661-24615052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24607317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 363 (L363P)
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: L363P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973
AA Change: L363P

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: L363P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973
AA Change: L363P

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: 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: ENSMUST00000138168
SMART Domains Protein: ENSMUSP00000119791
Gene: ENSMUSG00000028973

DomainStartEndE-ValueType
low complexity region 29 44 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198166
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,599,959 (GRCm39) H85L probably damaging Het
Adam34 A T 8: 44,104,621 (GRCm39) H341Q probably damaging Het
Adam34l A T 8: 44,078,160 (GRCm39) M688K probably benign Het
Adam7 A G 14: 68,754,133 (GRCm39) L322P probably damaging Het
Adcy5 T A 16: 34,976,613 (GRCm39) S49T probably benign Het
Arfgap2 T C 2: 91,104,150 (GRCm39) S374P probably benign Het
Arpp19 G A 9: 74,944,967 (GRCm39) probably benign Het
Baz1a T C 12: 54,941,773 (GRCm39) K1478E probably damaging Het
Cdc27 G T 11: 104,396,467 (GRCm39) A812E possibly damaging Het
Chtf8 G A 8: 107,612,150 (GRCm39) T263I probably damaging Het
Clcn6 T C 4: 148,113,849 (GRCm39) N70D probably benign Het
Cntnap5c A T 17: 58,349,553 (GRCm39) T289S possibly damaging Het
Dzip3 T C 16: 48,795,840 (GRCm39) N177S probably damaging Het
Edar G T 10: 58,465,313 (GRCm39) probably null Het
Enam T A 5: 88,641,919 (GRCm39) N244K possibly damaging Het
Fbxw10 A G 11: 62,767,770 (GRCm39) K874E probably damaging Het
Glra3 A G 8: 56,578,239 (GRCm39) E432G possibly damaging Het
Grin3b G A 10: 79,807,062 (GRCm39) R110Q probably benign Het
Herc3 T A 6: 58,845,748 (GRCm39) V423D possibly damaging Het
Ifit2 A T 19: 34,550,984 (GRCm39) T175S probably benign Het
Kcnj8 T G 6: 142,511,627 (GRCm39) I327L possibly damaging Het
Kcns2 A T 15: 34,839,242 (GRCm39) I202F probably benign Het
Kif12 T C 4: 63,087,010 (GRCm39) R305G possibly damaging Het
Limch1 A G 5: 67,154,576 (GRCm39) D362G probably damaging Het
Lrba T C 3: 86,687,540 (GRCm39) I2815T probably damaging Het
Lrrtm1 G T 6: 77,221,843 (GRCm39) M433I probably damaging Het
Myh7b A G 2: 155,462,040 (GRCm39) D312G probably damaging Het
Nrxn1 A T 17: 90,344,758 (GRCm39) I382N probably damaging Het
Nudt6 C T 3: 37,459,502 (GRCm39) R161H probably benign Het
Or10w1 T A 19: 13,631,816 (GRCm39) W8R probably damaging Het
Or11g2 A C 14: 50,856,044 (GRCm39) M122L possibly damaging Het
Or4m1 A T 14: 50,558,186 (GRCm39) Y35* probably null Het
Or7e166 C T 9: 19,624,945 (GRCm39) A274V probably benign Het
Pmf1 A T 3: 88,303,369 (GRCm39) V64D probably damaging Het
Pomgnt1 T A 4: 116,009,048 (GRCm39) V29D probably damaging Het
Pramel22 T A 4: 143,380,790 (GRCm39) H411L possibly damaging Het
Pramel26 A T 4: 143,539,378 (GRCm39) D38E probably benign Het
Prex1 C T 2: 166,428,457 (GRCm39) A925T probably benign Het
Pus3 A G 9: 35,476,327 (GRCm39) Y72C probably damaging Het
Rnf20 T C 4: 49,642,176 (GRCm39) S247P probably damaging Het
Rnf213 T A 11: 119,305,396 (GRCm39) D542E probably benign Het
Sidt1 T C 16: 44,063,895 (GRCm39) D786G probably benign Het
Sirt6 A T 10: 81,458,475 (GRCm39) D219E probably damaging Het
Slc36a2 A T 11: 55,072,411 (GRCm39) I67N probably damaging Het
Slc47a1 A G 11: 61,264,248 (GRCm39) F57S probably damaging Het
Spg11 T A 2: 121,924,968 (GRCm39) T756S probably damaging Het
Sptbn1 C A 11: 30,071,591 (GRCm39) R1447L probably damaging Het
Tcf7l2 A G 19: 55,907,387 (GRCm39) M340V probably damaging Het
Thap1 T C 8: 26,652,733 (GRCm39) V157A probably benign Het
Ubash3b G A 9: 40,934,853 (GRCm39) Q354* probably null Het
Ubtd1 G A 19: 42,020,460 (GRCm39) W68* probably null Het
Wdr64 G T 1: 175,620,647 (GRCm39) R793L probably damaging Het
Zbtb24 C T 10: 41,327,432 (GRCm39) T106I probably benign Het
Zbtb26 T C 2: 37,326,337 (GRCm39) N233S possibly damaging Het
Zcchc24 A T 14: 25,757,585 (GRCm39) N99K 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
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'- ATGCAGATTGCCAGGGCAACAG -3'
(R):5'- CCACGAGCTAAGGGATGACATCAC -3'

Sequencing Primer
(F):5'- AGGCCCTTGGCAATGTTC -3'
(R):5'- CTTAATATCCCACAGGAGTCAGAAG -3'
Posted On 2013-11-07