Incidental Mutation 'R1254:Abcb10'
ID 151388
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 039321-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1254 (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: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Coro2b A G 9: 62,336,247 (GRCm39) L280P probably damaging Het
D430041D05Rik T G 2: 104,031,648 (GRCm39) K1649N probably damaging Het
Duox2 T A 2: 122,113,959 (GRCm39) H1191L probably damaging Het
Etl4 A G 2: 20,812,734 (GRCm39) T1430A probably damaging Het
Hivep3 A G 4: 119,956,490 (GRCm39) Y1602C probably damaging Het
Ints6 A G 14: 62,953,823 (GRCm39) S180P probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Klhdc3 C T 17: 46,988,993 (GRCm39) V66I probably benign Het
Or5p56 T A 7: 107,589,647 (GRCm39) V25D probably benign Het
Pank1 T C 19: 34,818,260 (GRCm39) H93R probably benign Het
Pcdhb16 T G 18: 37,612,348 (GRCm39) V436G possibly damaging Het
Plekha6 G A 1: 133,200,327 (GRCm39) R302H probably benign Het
Ptk2 C T 15: 73,101,819 (GRCm39) R797Q probably benign Het
Rnase10 A T 14: 51,247,083 (GRCm39) M117L probably damaging Het
Rnf151 A T 17: 24,936,526 (GRCm39) C20* probably null Het
Robo4 T C 9: 37,322,136 (GRCm39) probably null Het
Rps6ka5 G T 12: 100,585,788 (GRCm39) H168Q probably damaging Het
Sstr1 G A 12: 58,260,108 (GRCm39) V244M possibly damaging Het
Tmem147 A T 7: 30,428,795 (GRCm39) Y17* probably null Het
Vmn1r7 A G 6: 57,001,772 (GRCm39) C163R 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
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
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