Incidental Mutation 'R1896:Abo'
ID 211955
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 039916-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1896 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26732508-26754973 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 26733609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 199 (D199Y)
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: D197Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099964
Gene: ENSMUSG00000015787
AA Change: D197Y

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 332 2.7e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114045
AA Change: D199Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109679
Gene: ENSMUSG00000015787
AA Change: D199Y

DomainStartEndE-ValueType
Pfam:Glyco_transf_6 34 334 1.7e-154 PFAM
Meta Mutation Damage Score 0.2284 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 94.9%
  • 20x: 91.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A C 2: 58,170,306 (GRCm39) V277G probably damaging Het
Adam23 G A 1: 63,584,731 (GRCm39) A380T probably benign Het
Art2b A G 7: 101,229,236 (GRCm39) V221A probably benign Het
Bcam A G 7: 19,500,640 (GRCm39) S153P probably damaging Het
Bltp1 C T 3: 36,962,380 (GRCm39) Q494* probably null Het
C1qtnf1 G T 11: 118,334,583 (GRCm39) G21V probably damaging Het
Car13 T C 3: 14,710,235 (GRCm39) I59T probably benign Het
Cep97 T C 16: 55,748,107 (GRCm39) N108D probably damaging Het
Cog3 T A 14: 75,979,784 (GRCm39) E182D probably benign Het
Efcab3 A G 11: 104,611,514 (GRCm39) K452R probably benign Het
Endou A G 15: 97,610,873 (GRCm39) Y404H probably damaging Het
F12 T C 13: 55,568,540 (GRCm39) Y373C probably damaging Het
Fam221b T C 4: 43,660,375 (GRCm39) T405A probably damaging Het
Fetub A G 16: 22,751,045 (GRCm39) R131G probably damaging Het
Foxp2 A T 6: 15,379,767 (GRCm39) probably benign Het
Ggt5 T C 10: 75,440,560 (GRCm39) V227A probably damaging Het
Gipr A G 7: 18,897,996 (GRCm39) S79P probably benign Het
Gphn A G 12: 78,459,128 (GRCm39) D72G possibly damaging Het
Gzmk A G 13: 113,309,427 (GRCm39) S208P probably damaging Het
Itpkc T C 7: 26,907,805 (GRCm39) D633G probably damaging Het
Jarid2 T C 13: 45,038,358 (GRCm39) probably null Het
Kif21b C A 1: 136,075,583 (GRCm39) R237S possibly damaging Het
Lama1 G A 17: 68,098,218 (GRCm39) R1805H probably benign Het
Lpin3 C T 2: 160,747,218 (GRCm39) P815S probably damaging Het
Lrp1 T A 10: 127,395,867 (GRCm39) I2468F possibly damaging Het
Nav1 T C 1: 135,388,475 (GRCm39) N1118S probably benign Het
Ncoa3 T A 2: 165,890,384 (GRCm39) I90N probably benign Het
Notch3 T C 17: 32,362,402 (GRCm39) T1408A probably benign Het
Nwd2 A G 5: 63,962,753 (GRCm39) D779G probably benign Het
Obox6 A T 7: 15,568,770 (GRCm39) H35Q possibly damaging Het
Pkd1l3 C A 8: 110,350,831 (GRCm39) P559T possibly damaging Het
Pou2af2 A G 9: 51,203,098 (GRCm39) S19P probably damaging Het
Pramel23 C G 4: 143,424,714 (GRCm39) G243A probably benign Het
Prex1 T A 2: 166,428,574 (GRCm39) I716F probably benign Het
Psap C T 10: 60,130,826 (GRCm39) Q219* probably null Het
Rab5if C T 2: 156,707,252 (GRCm39) P64S probably damaging Het
Shisa5 T A 9: 108,885,108 (GRCm39) I126N probably damaging Het
Slc11a1 T C 1: 74,414,931 (GRCm39) L21P probably benign Het
Slc4a4 A G 5: 89,194,167 (GRCm39) T172A probably damaging Het
Sned1 C T 1: 93,192,769 (GRCm39) P352L probably benign Het
Sox4 T C 13: 29,136,127 (GRCm39) Y293C probably damaging Het
Srgap3 T A 6: 112,715,958 (GRCm39) H654L probably benign Het
Stra6 A T 9: 58,059,166 (GRCm39) M510L probably benign Het
Syna C A 5: 134,588,006 (GRCm39) M314I probably benign Het
Taf5l A G 8: 124,730,152 (GRCm39) L144P probably damaging Het
Tll2 A G 19: 41,101,498 (GRCm39) F379L probably benign Het
Traf3ip3 A G 1: 192,858,042 (GRCm39) V492A probably benign Het
Uba2 A G 7: 33,850,455 (GRCm39) F364S probably damaging Het
Unc50 T A 1: 37,476,323 (GRCm39) L161Q probably damaging Het
Ush2a T C 1: 188,282,206 (GRCm39) V1907A probably benign Het
Uso1 A T 5: 92,348,992 (GRCm39) probably null Het
Utf1 C A 7: 139,524,213 (GRCm39) L143I probably damaging Het
Vmn1r158 C T 7: 22,490,143 (GRCm39) C22Y probably damaging Het
Vmn1r36 T A 6: 66,693,756 (GRCm39) M40L probably benign Het
Vmn2r43 A G 7: 8,258,055 (GRCm39) V386A possibly damaging Het
Vps9d1 C A 8: 123,973,778 (GRCm39) R335L probably damaging Het
Zbtb26 A G 2: 37,326,347 (GRCm39) S230P possibly damaging Het
Zfp74 A T 7: 29,634,569 (GRCm39) C380S probably damaging Het
Zfyve1 A C 12: 83,602,388 (GRCm39) V469G 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
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'- TCCATCATAGCTTCATGGCAGG -3'
(R):5'- CTGATGTGCCACAGGTGATC -3'

Sequencing Primer
(F):5'- CATAGCTTCATGGCAGGCCTTG -3'
(R):5'- AGGTGATCCTGGGTGCAG -3'
Posted On 2014-06-30