Incidental Mutation 'R1355:Abcb10'
ID 156284
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 039420-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1355 (G1)
Quality Score 225
Status 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: 98.1%
  • 10x: 95.8%
  • 20x: 91.4%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd52 A G 10: 128,224,565 (GRCm39) D781G possibly damaging Het
Arhgef5 T A 6: 43,260,846 (GRCm39) F1424I probably damaging Het
Atp10b G A 11: 43,042,482 (GRCm39) W14* probably null Het
B4galnt4 T C 7: 140,645,308 (GRCm39) V259A probably damaging Het
Ccdc141 A T 2: 76,860,945 (GRCm39) I944N probably damaging Het
Ccdc146 A T 5: 21,526,240 (GRCm39) D224E probably damaging Het
Ccne1 A G 7: 37,805,747 (GRCm39) I43T possibly damaging Het
Cd226 T A 18: 89,265,147 (GRCm39) S29T probably benign Het
Cebpz G T 17: 79,242,753 (GRCm39) D300E probably benign Het
Cryzl1 A G 16: 91,489,546 (GRCm39) V266A possibly damaging Het
Cyp2c68 A G 19: 39,729,400 (GRCm39) L29P probably damaging Het
Dennd3 A C 15: 73,412,703 (GRCm39) probably benign Het
Dpy19l4 C T 4: 11,303,371 (GRCm39) W183* probably null Het
Eml6 T G 11: 29,783,085 (GRCm39) S599R probably benign Het
Erc1 A T 6: 119,720,381 (GRCm39) L440* probably null Het
Frem3 A G 8: 81,417,331 (GRCm39) Y2012C probably damaging Het
Garin5a A G 7: 44,146,115 (GRCm39) K2E possibly damaging Het
Gm10288 A T 3: 146,544,748 (GRCm39) noncoding transcript Het
Gm1110 T A 9: 26,795,057 (GRCm39) K476N probably benign Het
Gm11937 A T 11: 99,500,733 (GRCm39) S95T possibly damaging Het
H2bc13 T A 13: 21,900,027 (GRCm39) Q96L probably damaging Het
Hs6st1 T A 1: 36,142,657 (GRCm39) H197Q probably damaging Het
Ism1 A T 2: 139,573,994 (GRCm39) I115F possibly damaging Het
Itgb8 C T 12: 119,134,738 (GRCm39) G443E probably benign Het
Kalrn T A 16: 33,795,954 (GRCm39) I1274F possibly damaging Het
Lrrcc1 G T 3: 14,613,174 (GRCm39) V299L probably benign Het
Mettl5 A T 2: 69,711,764 (GRCm39) probably null Het
Mtcl3 A T 10: 29,023,318 (GRCm39) T222S probably benign Het
Nlrp2 G T 7: 5,330,490 (GRCm39) N635K possibly damaging Het
Or4c3d G A 2: 89,881,957 (GRCm39) T237I probably benign Het
Or5ac16 A G 16: 59,022,043 (GRCm39) S249P probably damaging Het
Or5b112 T A 19: 13,319,882 (GRCm39) Y253* probably null Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Plxna1 A G 6: 89,297,748 (GRCm39) probably benign Het
Ppp4r1 A T 17: 66,147,982 (GRCm39) E924D probably benign Het
Prdm2 C T 4: 142,858,533 (GRCm39) V1586I probably benign Het
Pros1 A G 16: 62,739,921 (GRCm39) K457E probably benign Het
Rer1 T A 4: 155,160,081 (GRCm39) M156L probably benign Het
Rgs16 A T 1: 153,619,414 (GRCm39) K140M probably damaging Het
Rgsl1 A G 1: 153,683,507 (GRCm39) M1T probably null Het
Setdb2 T A 14: 59,654,890 (GRCm39) K333N probably damaging Het
Sgo2a A G 1: 58,057,124 (GRCm39) T1103A possibly damaging Het
Sik3 C T 9: 46,107,170 (GRCm39) probably benign Het
Slc44a3 C A 3: 121,325,320 (GRCm39) G47V probably damaging Het
Snrpd1 G A 18: 10,627,818 (GRCm39) G103D probably benign Het
Sspo T A 6: 48,425,560 (GRCm39) S60R probably benign Het
Susd1 C T 4: 59,424,114 (GRCm39) C37Y possibly damaging Het
Tiam1 A T 16: 89,695,109 (GRCm39) I116N probably benign Het
Ttc3 A G 16: 94,219,496 (GRCm39) S492G possibly damaging Het
Uckl1 G T 2: 181,215,169 (GRCm39) T213K probably damaging Het
Usp38 T C 8: 81,711,662 (GRCm39) E791G possibly damaging Het
Vps13b C T 15: 35,422,600 (GRCm39) R187C probably damaging Het
Vwa3a A G 7: 120,383,334 (GRCm39) Y645C probably damaging Het
Wasf3 T C 5: 146,407,018 (GRCm39) 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
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
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
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'- TGCTGACCCATTTCCAAGGGTAGG -3'
(R):5'- ACTTCAGTCAGGCAAGGGAGACAC -3'

Sequencing Primer
(F):5'- CCCATTTCCAAGGGTAGGAATATG -3'
(R):5'- GGCATTCTGCCCTGAGC -3'
Posted On 2014-02-11