Incidental Mutation 'IGL02825:Abo'
ID 361155
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abo
Ensembl Gene ENSMUSG00000015787
Gene Name ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Synonyms cis-AB transferase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02825
Quality Score
Status
Chromosome 2
Chromosomal Location 26732508-26754973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26733710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 163 (V163A)
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: V163A

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099964
Gene: ENSMUSG00000015787
AA Change: V163A

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 332 2.7e-155 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114045
AA Change: V165A

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109679
Gene: ENSMUSG00000015787
AA Change: V165A

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 334 1.7e-154 PFAM
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Stom C A 2: 35,211,644 (GRCm39) V126F probably damaging Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R 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
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
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
Posted On 2015-12-18