Incidental Mutation 'R6059:Abo'
ID 483105
Institutional Source Beutler Lab
Gene Symbol Abo
Ensembl Gene ENSMUSG00000015787
Gene Name ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Synonyms cis-AB transferase
MMRRC Submission 044225-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6059 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26732508-26754973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26733365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 278 (V278A)
Ref Sequence ENSEMBL: ENSMUSP00000099964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102900] [ENSMUST00000114045]
AlphaFold P38649
Predicted Effect possibly damaging
Transcript: ENSMUST00000102900
AA Change: V278A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099964
Gene: ENSMUSG00000015787
AA Change: V278A

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 332 2.7e-155 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114045
AA Change: V280A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109679
Gene: ENSMUSG00000015787
AA Change: V280A

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 334 1.7e-154 PFAM
Meta Mutation Damage Score 0.0761 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 95% (54/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik C A 17: 48,400,847 (GRCm39) T44K probably benign Het
Ablim2 A G 5: 36,014,508 (GRCm39) D189G probably benign Het
Anxa1 A G 19: 20,355,064 (GRCm39) F237L possibly damaging Het
Atp11b A G 3: 35,868,326 (GRCm39) Y466C possibly damaging Het
Cfh T A 1: 140,046,428 (GRCm39) K531N possibly damaging Het
Cgref1 G T 5: 31,102,728 (GRCm39) P31Q probably damaging Het
Clca3a2 G A 3: 144,516,531 (GRCm39) A355V probably damaging Het
Cntnap5c T A 17: 58,620,707 (GRCm39) C929S probably damaging Het
Col6a6 A T 9: 105,661,116 (GRCm39) V331D probably damaging Het
Cyp4a12b T A 4: 115,295,301 (GRCm39) V469E possibly damaging Het
Dchs2 A G 3: 83,263,043 (GRCm39) S3104G probably benign Het
Ddx24 G T 12: 103,374,559 (GRCm39) A875E probably damaging Het
Dsc1 A T 18: 20,243,299 (GRCm39) N51K probably damaging Het
Efcab3 T C 11: 104,927,595 (GRCm39) I4788T probably benign Het
Epb41l3 C T 17: 69,593,793 (GRCm39) T537I probably damaging Het
Epb41l3 A G 17: 69,591,637 (GRCm39) E708G probably damaging Het
Fam162b A T 10: 51,466,403 (GRCm39) C39S probably benign Het
Garre1 G A 7: 33,944,888 (GRCm39) A452V possibly damaging Het
Gbf1 T C 19: 46,253,687 (GRCm39) I531T probably damaging Het
Glipr1l2 T C 10: 111,919,423 (GRCm39) V48A probably benign Het
Gorasp1 A G 9: 119,759,072 (GRCm39) V177A probably damaging Het
Gys1 A G 7: 45,104,712 (GRCm39) probably null Het
Hif1a T A 12: 73,988,574 (GRCm39) V523E probably damaging Het
Hnrnph3 A T 10: 62,854,641 (GRCm39) probably benign Het
Lcn9 C A 2: 25,714,737 (GRCm39) L159I possibly damaging Het
Luzp1 C T 4: 136,268,791 (GRCm39) A338V probably benign Het
Map3k10 A T 7: 27,356,247 (GRCm39) S891T probably damaging Het
Mmrn2 C T 14: 34,119,548 (GRCm39) Q97* probably null Het
Mov10 G A 3: 104,725,266 (GRCm39) probably benign Het
Ncam1 A C 9: 49,455,966 (GRCm39) Y551D probably damaging Het
Ncf1 A T 5: 134,252,341 (GRCm39) Y237N probably damaging Het
Nipbl A T 15: 8,325,052 (GRCm39) I2537N probably damaging Het
Nlrp1b A T 11: 71,107,836 (GRCm39) V555E possibly damaging Het
Nod2 T C 8: 89,391,042 (GRCm39) Y428H probably damaging Het
Nup133 C A 8: 124,641,335 (GRCm39) A862S probably damaging Het
Pcdhgb2 T A 18: 37,823,078 (GRCm39) L23* probably null Het
Pclo A G 5: 14,861,714 (GRCm39) E4889G unknown Het
Plcd3 T A 11: 102,971,227 (GRCm39) I110F possibly damaging Het
Plxna2 C A 1: 194,493,279 (GRCm39) N1851K possibly damaging Het
Ppp2r5c C A 12: 110,541,222 (GRCm39) A457E probably benign Het
Ppp5c C T 7: 16,761,832 (GRCm39) probably benign Het
Pramel25 T G 4: 143,520,550 (GRCm39) S101A possibly damaging Het
Prg4 T A 1: 150,325,748 (GRCm39) Y1009F possibly damaging Het
Rcor3 A T 1: 191,804,240 (GRCm39) M303K probably benign Het
Rrn3 G A 16: 13,624,468 (GRCm39) M433I probably benign Het
Serpinb9e G A 13: 33,441,757 (GRCm39) V230M probably benign Het
Shisa6 T A 11: 66,115,800 (GRCm39) H279L probably damaging Het
Slc38a11 A T 2: 65,165,089 (GRCm39) I234N probably damaging Het
Socs1 G C 16: 10,602,394 (GRCm39) F114L probably damaging Het
Ssc5d C T 7: 4,945,743 (GRCm39) T925M possibly damaging Het
Stc1 T C 14: 69,269,887 (GRCm39) S156P probably damaging Het
Ttc5 C G 14: 51,015,303 (GRCm39) V103L probably damaging Het
Vmn1r73 A G 7: 11,490,538 (GRCm39) T119A probably benign Het
Vmn2r99 G A 17: 19,599,242 (GRCm39) D309N probably benign Het
Vps53 T C 11: 75,957,693 (GRCm39) H353R possibly damaging Het
Ythdf3 T A 3: 16,257,356 (GRCm39) Y47* probably null Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Other mutations in Abo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02165:Abo APN 2 26,733,441 (GRCm39) missense probably damaging 1.00
IGL02171:Abo APN 2 26,738,969 (GRCm39) missense probably benign 0.06
IGL02825:Abo APN 2 26,733,710 (GRCm39) missense possibly damaging 0.88
R0035:Abo UTSW 2 26,733,385 (GRCm39) missense possibly damaging 0.90
R0414:Abo UTSW 2 26,733,428 (GRCm39) missense probably damaging 1.00
R1813:Abo UTSW 2 26,733,609 (GRCm39) missense probably damaging 1.00
R1896:Abo UTSW 2 26,733,609 (GRCm39) missense probably damaging 1.00
R2129:Abo UTSW 2 26,736,586 (GRCm39) missense probably benign 0.00
R4022:Abo UTSW 2 26,733,812 (GRCm39) missense probably damaging 1.00
R7638:Abo UTSW 2 26,733,855 (GRCm39) missense probably damaging 1.00
R9061:Abo UTSW 2 26,733,395 (GRCm39) missense probably benign 0.06
R9408:Abo UTSW 2 26,738,287 (GRCm39) missense probably benign 0.09
R9445:Abo UTSW 2 26,733,720 (GRCm39) missense probably damaging 0.96
Z1176:Abo UTSW 2 26,738,270 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCAGCCTGTCCTCTCCAATAG -3'
(R):5'- TGCACCCTGGCTTCTACAGTAG -3'

Sequencing Primer
(F):5'- GCCTGTCCTCTCCAATAGGAATTTAG -3'
(R):5'- CTTCTACAGTAGCAGCCGAGAG -3'
Posted On 2017-07-14