Incidental Mutation 'R1251:Abcb10'
ID 151764
Institutional Source Beutler Lab
Gene Symbol Abcb10
Ensembl Gene ENSMUSG00000031974
Gene Name ATP-binding cassette, sub-family B member 10
Synonyms ABC-me
MMRRC Submission 039318-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1251 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 124679198-124709861 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124688791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 495 (G495D)
Ref Sequence ENSEMBL: ENSMUSP00000075011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075578] [ENSMUST00000127664]
AlphaFold Q9JI39
Predicted Effect probably damaging
Transcript: ENSMUST00000075578
AA Change: G495D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: G495D

DomainStartEndE-ValueType
Pfam:ABC_membrane 136 407 1.7e-60 PFAM
AAA 484 675 1.68e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212356
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ATP-binding cassette superfamily of transporters. ATP-binding cassette proteins transport various molecules across extra- and intra-cellular membranes. The encoded protein is localized to the mitochondrial inner membrane where it interacts with and stabilizes mitoferrin-1, and is important for heme biosynthesis. Additional evidence suggests the encoded protein is involved in oxidative stress protection and erythropoisesis. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased response to ischemia and reperfusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,926,989 (GRCm39) Y509N probably damaging Het
Adcy9 T A 16: 4,129,395 (GRCm39) E497V probably damaging Het
Bcat2 T G 7: 45,225,410 (GRCm39) L56R probably damaging Het
Ccdc146 T C 5: 21,498,370 (GRCm39) M952V probably benign Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cfap46 C T 7: 139,181,181 (GRCm39) V2607I probably benign Het
Clec18a T C 8: 111,808,270 (GRCm39) I54V possibly damaging Het
Coil A G 11: 88,873,125 (GRCm39) E455G possibly damaging Het
Copg1 A T 6: 87,866,989 (GRCm39) K75* probably null Het
Cyp2j12 G A 4: 96,003,903 (GRCm39) Q238* probably null Het
Eif3i T C 4: 129,487,178 (GRCm39) E229G probably damaging Het
Exoc2 T A 13: 31,070,259 (GRCm39) N411Y probably benign Het
Eya2 T A 2: 165,596,404 (GRCm39) M305K probably damaging Het
Faim C T 9: 98,874,687 (GRCm39) T78M probably damaging Het
Fgg T A 3: 82,920,287 (GRCm39) D355E probably benign Het
Foxn1 A G 11: 78,249,611 (GRCm39) L638P probably damaging Het
Grid2ip A T 5: 143,371,770 (GRCm39) E664D possibly damaging Het
Il1rn A G 2: 24,235,582 (GRCm39) R21G probably damaging Het
Ilrun C T 17: 28,005,044 (GRCm39) probably null Het
Inpp4b G A 8: 82,617,382 (GRCm39) G220R probably benign Het
Irx6 A G 8: 93,404,881 (GRCm39) S250G possibly damaging Het
Lyst T C 13: 13,809,068 (GRCm39) I246T probably benign Het
Mcm3 G A 1: 20,882,896 (GRCm39) Q353* probably null Het
Mfhas1 A G 8: 36,058,207 (GRCm39) Y894C probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Necab1 A G 4: 15,111,192 (GRCm39) probably null Het
Nectin3 A T 16: 46,284,205 (GRCm39) S160T possibly damaging Het
Npc2 A G 12: 84,807,658 (GRCm39) S67P probably damaging Het
Or5e1 T G 7: 108,354,114 (GRCm39) F17C probably damaging Het
Or5m9b G A 2: 85,905,164 (GRCm39) V27M probably benign Het
Pcnx3 A G 19: 5,727,210 (GRCm39) F1108L probably benign Het
Phf21a G A 2: 92,189,544 (GRCm39) S601N probably benign Het
Pold1 C T 7: 44,184,475 (GRCm39) V842I probably benign Het
Rabgap1 A G 2: 37,433,246 (GRCm39) probably null Het
Setd1a T A 7: 127,396,596 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,121 (GRCm39) probably null Het
Sult2a8 T A 7: 14,159,350 (GRCm39) K90* probably null Het
Tlr2 T C 3: 83,745,576 (GRCm39) D169G possibly damaging Het
Tmem95 A G 11: 69,767,655 (GRCm39) F153S probably benign Het
Tube1 G T 10: 39,010,204 (GRCm39) G10* probably null Het
Vmn2r10 T C 5: 109,143,890 (GRCm39) M687V probably benign Het
Zc3h8 G A 2: 128,777,289 (GRCm39) P117S probably benign Het
Zeb1 T A 18: 5,705,089 (GRCm39) D18E probably damaging Het
Other mutations in Abcb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02219:Abcb10 APN 8 124,681,166 (GRCm39) missense probably benign 0.00
IGL02279:Abcb10 APN 8 124,681,100 (GRCm39) missense probably benign 0.17
IGL02302:Abcb10 APN 8 124,685,411 (GRCm39) missense possibly damaging 0.89
IGL02342:Abcb10 APN 8 124,688,773 (GRCm39) missense probably damaging 1.00
IGL03062:Abcb10 APN 8 124,681,054 (GRCm39) missense possibly damaging 0.49
IGL03409:Abcb10 APN 8 124,691,762 (GRCm39) missense possibly damaging 0.63
R0320:Abcb10 UTSW 8 124,689,746 (GRCm39) missense probably benign 0.00
R0436:Abcb10 UTSW 8 124,697,740 (GRCm39) missense probably benign 0.01
R1074:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1224:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1225:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1226:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1252:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1254:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1255:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1256:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1355:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1370:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1424:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1499:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R1769:Abcb10 UTSW 8 124,688,791 (GRCm39) missense probably damaging 1.00
R2096:Abcb10 UTSW 8 124,709,195 (GRCm39) missense probably benign 0.01
R2125:Abcb10 UTSW 8 124,691,831 (GRCm39) missense probably benign 0.29
R2274:Abcb10 UTSW 8 124,709,491 (GRCm39) missense probably benign 0.23
R4801:Abcb10 UTSW 8 124,693,266 (GRCm39) missense probably benign 0.12
R4802:Abcb10 UTSW 8 124,693,266 (GRCm39) missense probably benign 0.12
R4850:Abcb10 UTSW 8 124,709,429 (GRCm39) missense probably benign 0.01
R5320:Abcb10 UTSW 8 124,697,763 (GRCm39) missense probably benign 0.11
R5947:Abcb10 UTSW 8 124,694,737 (GRCm39) splice site probably null
R6006:Abcb10 UTSW 8 124,694,804 (GRCm39) missense probably benign 0.00
R6328:Abcb10 UTSW 8 124,688,756 (GRCm39) missense probably damaging 1.00
R7168:Abcb10 UTSW 8 124,693,350 (GRCm39) missense
R8130:Abcb10 UTSW 8 124,691,757 (GRCm39) missense
R8131:Abcb10 UTSW 8 124,691,757 (GRCm39) missense
R8132:Abcb10 UTSW 8 124,691,757 (GRCm39) missense
R8431:Abcb10 UTSW 8 124,694,873 (GRCm39) missense
R9111:Abcb10 UTSW 8 124,696,646 (GRCm39) missense
R9258:Abcb10 UTSW 8 124,709,347 (GRCm39) missense probably benign
R9423:Abcb10 UTSW 8 124,688,819 (GRCm39) missense
V7581:Abcb10 UTSW 8 124,696,500 (GRCm39) intron probably benign
Z1176:Abcb10 UTSW 8 124,709,402 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGCACATGTCAGCAGAGTTCCAG -3'
(R):5'- ACTTCAGTCAGGCAAGGGAGACAC -3'

Sequencing Primer
(F):5'- CTGACCCATTTCCAAGGGTAG -3'
(R):5'- GGCATTCTGCCCTGAGC -3'
Posted On 2014-01-29