Incidental Mutation 'R5761:Abcb8'
ID 445287
Institutional Source Beutler Lab
Gene Symbol Abcb8
Ensembl Gene ENSMUSG00000028973
Gene Name ATP-binding cassette, sub-family B member 8
Synonyms 4833412N02Rik
MMRRC Submission 043363-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R5761 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 24598661-24615052 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 24610879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000073076] [ENSMUST00000115077]
AlphaFold Q9CXJ4
Predicted Effect probably benign
Transcript: ENSMUST00000073076
SMART Domains Protein: ENSMUSP00000072826
Gene: ENSMUSG00000028973

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
SMART Domains Protein: ENSMUSP00000110729
Gene: ENSMUSG00000028973

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,100,927 (GRCm39) V953D probably damaging Het
Acad12 A T 5: 121,742,243 (GRCm39) probably benign Het
Adam2 A T 14: 66,283,595 (GRCm39) C436S probably damaging Het
Aebp2 T C 6: 140,569,943 (GRCm39) probably benign Het
Akap8 A T 17: 32,536,159 (GRCm39) C85S possibly damaging Het
Aldh1a3 C A 7: 66,068,927 (GRCm39) R19L probably damaging Het
Baz2a A G 10: 127,955,559 (GRCm39) T848A possibly damaging Het
Bud13 C T 9: 46,199,350 (GRCm39) A237V probably benign Het
Cbarp CGCCTCTGCTGCCTCT CGCCTCT 10: 79,968,067 (GRCm39) probably benign Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccz1 C T 5: 143,929,328 (GRCm39) G367R probably damaging Het
Cep104 T C 4: 154,065,681 (GRCm39) V56A possibly damaging Het
Chd6 C A 2: 160,798,998 (GRCm39) R2362S probably damaging Het
Chd6 C T 2: 160,798,999 (GRCm39) R2362K probably damaging Het
Cmc1 T C 9: 117,944,443 (GRCm39) E25G probably benign Het
Cntnap5b T C 1: 100,374,619 (GRCm39) S1123P probably damaging Het
Col4a3 T A 1: 82,693,778 (GRCm39) L66* probably null Het
Crmp1 A G 5: 37,440,212 (GRCm39) T329A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a16 A G 5: 145,378,843 (GRCm39) S393P possibly damaging Het
Cyp4f18 T A 8: 72,749,975 (GRCm39) I225F probably damaging Het
Ddhd2 A G 8: 26,231,726 (GRCm39) V432A probably benign Het
Ecpas T C 4: 58,853,131 (GRCm39) I401M probably damaging Het
Foxq1 G A 13: 31,743,314 (GRCm39) A139T probably damaging Het
Gm10428 G T 11: 62,644,169 (GRCm39) probably benign Het
Gpr89 A G 3: 96,800,196 (GRCm39) L134P probably damaging Het
Hjv T C 3: 96,435,938 (GRCm39) S399P probably benign Het
Hrc A T 7: 44,986,025 (GRCm39) probably null Het
Igf1r T A 7: 67,857,001 (GRCm39) Y988N probably damaging Het
Igf2r A C 17: 12,917,239 (GRCm39) probably null Het
Itga2b A G 11: 102,357,100 (GRCm39) F260S probably benign Het
Kif2a T A 13: 107,098,672 (GRCm39) N698I probably benign Het
Lap3 A C 5: 45,662,147 (GRCm39) I316L probably benign Het
Map2k6 T G 11: 110,290,197 (GRCm39) probably benign Het
Mtrex T A 13: 113,054,196 (GRCm39) I146F probably damaging Het
Myh1 A G 11: 67,110,078 (GRCm39) E1422G probably damaging Het
Ncoa6 A G 2: 155,250,061 (GRCm39) V1081A probably benign Het
Nom1 A G 5: 29,642,639 (GRCm39) E380G probably damaging Het
Nwd2 A T 5: 63,882,573 (GRCm39) Y75F probably damaging Het
Or3a1b T A 11: 74,012,335 (GRCm39) D73E probably damaging Het
Or51a24 G A 7: 103,733,376 (GRCm39) R304W probably benign Het
Pkd1l1 A G 11: 8,866,301 (GRCm39) V518A probably damaging Het
Ptgs2 A G 1: 149,981,279 (GRCm39) M521V probably benign Het
Qsox1 T A 1: 155,655,274 (GRCm39) M630L probably benign Het
Spty2d1 A G 7: 46,648,032 (GRCm39) L299P probably damaging Het
St6gal1 T G 16: 23,139,805 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,984,283 (GRCm39) Y149C probably damaging Het
Tlr3 G A 8: 45,855,808 (GRCm39) T124M probably benign Het
Tmem171 A G 13: 98,829,019 (GRCm39) Y44H probably damaging Het
Usp35 C T 7: 96,961,558 (GRCm39) V623I probably benign Het
Vangl2 T A 1: 171,833,694 (GRCm39) H463L probably damaging Het
Vmn1r175 A C 7: 23,507,905 (GRCm39) L241V probably benign Het
Vmn1r19 A T 6: 57,382,338 (GRCm39) K297I unknown Het
Vmn2r23 C A 6: 123,689,718 (GRCm39) T198K probably benign Het
Vmn2r-ps69 T A 7: 84,953,223 (GRCm39) noncoding transcript Het
Xirp2 A G 2: 67,341,311 (GRCm39) Y1184C probably benign Het
Ythdc1 A G 5: 86,983,810 (GRCm39) probably benign Het
Zbtb39 C T 10: 127,578,515 (GRCm39) A363V probably damaging Het
Zmiz1 T A 14: 25,651,728 (GRCm39) I527K possibly damaging Het
Zmiz1 C A 14: 25,651,730 (GRCm39) P534T 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
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
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'- ATCTGGTGTCACAGTCCCAG -3'
(R):5'- GCAGAAGGAATCTAGTTTGTGG -3'

Sequencing Primer
(F):5'- TCCCAGGGCCATACATGTGAG -3'
(R):5'- TTGAGATAAAAACCAGGGCTTCC -3'
Posted On 2016-11-21