Incidental Mutation 'R1226:Abcb10'
ID 152235
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 039295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1226 (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: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 G T 15: 91,075,246 (GRCm39) A189E probably benign Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q probably benign 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
R1251: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