Incidental Mutation 'R0414:Abo'
ID 40147
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 038616-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0414 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26732508-26754973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26733428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 259 (Y259C)
Ref Sequence ENSEMBL: ENSMUSP00000109679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102900] [ENSMUST00000114045]
AlphaFold P38649
Predicted Effect probably damaging
Transcript: ENSMUST00000102900
AA Change: Y257C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099964
Gene: ENSMUSG00000015787
AA Change: Y257C

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 332 2.7e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114045
AA Change: Y259C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109679
Gene: ENSMUSG00000015787
AA Change: Y259C

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 334 1.7e-154 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 96% (64/67)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik A T 5: 103,797,356 (GRCm39) V51E probably benign Het
Adamts5 A G 16: 85,674,794 (GRCm39) S457P probably damaging Het
Alk G T 17: 72,206,281 (GRCm39) probably benign Het
Alpk2 A G 18: 65,439,230 (GRCm39) I1188T probably benign Het
Ambra1 T C 2: 91,706,084 (GRCm39) S730P possibly damaging Het
Arhgef2 T C 3: 88,539,575 (GRCm39) probably benign Het
Atpsckmt T A 15: 31,617,148 (GRCm39) Y126* probably null Het
B3gnt7 T C 1: 86,233,351 (GRCm39) I82T probably damaging Het
B4galnt3 T C 6: 120,193,526 (GRCm39) D400G probably benign Het
Bag4 A G 8: 26,258,025 (GRCm39) V434A possibly damaging Het
Cfap251 A G 5: 123,425,476 (GRCm39) probably null Het
Cfc1 A G 1: 34,576,409 (GRCm39) D130G probably damaging Het
Chd4 T C 6: 125,084,443 (GRCm39) Y692H probably damaging Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Clec2m T C 6: 129,303,813 (GRCm39) probably benign Het
Crybg2 GAGAAGAAG GAGAAG 4: 133,799,947 (GRCm39) probably benign Het
Dnah2 T C 11: 69,390,064 (GRCm39) D727G probably benign Het
Dock10 C A 1: 80,513,650 (GRCm39) V1129F possibly damaging Het
Dsc1 A T 18: 20,221,411 (GRCm39) I688N possibly damaging Het
Dyrk1a C G 16: 94,464,701 (GRCm39) T103R probably damaging Het
Ebf1 C T 11: 44,815,297 (GRCm39) R304* probably null Het
Eif2s2 A G 2: 154,726,381 (GRCm39) probably benign Het
Endov T G 11: 119,390,397 (GRCm39) Y8* probably null Het
Eps15 T A 4: 109,223,677 (GRCm39) D485E probably damaging Het
Fam118a C A 15: 84,929,890 (GRCm39) S39R probably damaging Het
Fbxo22 T A 9: 55,130,910 (GRCm39) M393K possibly damaging Het
Firrm T C 1: 163,795,890 (GRCm39) I434V probably benign Het
Gab1 A G 8: 81,526,918 (GRCm39) I60T probably damaging Het
Gapvd1 A G 2: 34,583,439 (GRCm39) L1059P probably benign Het
Gbp5 A G 3: 142,213,674 (GRCm39) probably null Het
Glb1l2 T A 9: 26,676,400 (GRCm39) K487* probably null Het
H1f1 A G 13: 23,948,141 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,591,573 (GRCm39) I1875M possibly damaging Het
Jkamp T C 12: 72,140,919 (GRCm39) probably null Het
Kprp C T 3: 92,733,020 (GRCm39) C10Y probably damaging Het
Lrig2 A G 3: 104,401,372 (GRCm39) probably null Het
Lrrn3 T A 12: 41,503,939 (GRCm39) N126I probably damaging Het
Mug1 T C 6: 121,833,513 (GRCm39) F325L probably benign Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Nagk C T 6: 83,774,249 (GRCm39) R87* probably null Het
Nipal4 T A 11: 46,052,735 (GRCm39) I77F probably damaging Het
Or4c112 A G 2: 88,853,490 (GRCm39) Y286H probably damaging Het
Osbp2 T C 11: 3,769,932 (GRCm39) H250R probably damaging Het
Pcx T C 19: 4,657,670 (GRCm39) V378A possibly damaging Het
Pfkp T A 13: 6,643,246 (GRCm39) H524L probably benign Het
Picalm A T 7: 89,838,406 (GRCm39) N370I possibly damaging Het
Plcl2 A C 17: 50,914,983 (GRCm39) D664A possibly damaging Het
Ptpn5 G A 7: 46,732,884 (GRCm39) P320S probably benign Het
Scn3a T A 2: 65,356,326 (GRCm39) probably benign Het
Sfswap A G 5: 129,581,115 (GRCm39) D96G possibly damaging Het
Slfn1 A G 11: 83,012,096 (GRCm39) I71V probably benign Het
Spata1 A G 3: 146,181,943 (GRCm39) probably null Het
Stx18 T C 5: 38,262,349 (GRCm39) probably benign Het
Suox T A 10: 128,507,326 (GRCm39) H234L probably benign Het
Tbc1d17 T C 7: 44,495,483 (GRCm39) S114G probably benign Het
Tfeb T A 17: 48,099,224 (GRCm39) probably null Het
Tnks A C 8: 35,320,463 (GRCm39) V736G probably damaging Het
Wdhd1 T C 14: 47,514,045 (GRCm39) T4A probably benign 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
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
R6059:Abo UTSW 2 26,733,365 (GRCm39) missense possibly damaging 0.95
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'- GGCACAGCCACATATCTCAGCTTC -3'
(R):5'- CACTTCTCAGAGCGACGCTTTCTAC -3'

Sequencing Primer
(F):5'- CTTCATGATGGAGGGCCAG -3'
(R):5'- AGCGACGCTTTCTACGTGAG -3'
Posted On 2013-05-23