Incidental Mutation 'IGL01523:Gcnt2'
ID 89473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt2
Ensembl Gene ENSMUSG00000021360
Gene Name glucosaminyl (N-acetyl) transferase 2 (I blood group)
Synonyms 5330430K10Rik, IGnTB, IGnT, IGnTA, IGnTC
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL01523
Quality Score
Status
Chromosome 13
Chromosomal Location 41013417-41114368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41041339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 166 (Q166L)
Ref Sequence ENSEMBL: ENSMUSP00000070942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069958] [ENSMUST00000110191]
AlphaFold P97402
Predicted Effect probably benign
Transcript: ENSMUST00000069958
AA Change: Q166L

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000070942
Gene: ENSMUSG00000021360
AA Change: Q166L

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:Branch 95 357 8.4e-60 PFAM
low complexity region 377 386 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110191
SMART Domains Protein: ENSMUSP00000105820
Gene: ENSMUSG00000021360

DomainStartEndE-ValueType
transmembrane domain 7 24 N/A INTRINSIC
Pfam:Branch 95 357 5.2e-61 PFAM
low complexity region 377 386 N/A INTRINSIC
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 the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show hypoactivity, a reduced B cell number, epidermoid cyst formation in male abdominal skin, and impaired renal function with increased blood urea nitrogen and creatinine levels and vacuolization of renal tubular epithelial cells in aging mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,867,320 (GRCm39) E246G probably damaging Het
B3galt5 T A 16: 96,117,091 (GRCm39) D241E probably damaging Het
Camta1 A G 4: 151,229,507 (GRCm39) F442L possibly damaging Het
Cntnap5b A T 1: 100,359,504 (GRCm39) E709V probably benign Het
Ctnnal1 T C 4: 56,835,243 (GRCm39) I345V probably damaging Het
Evpl T C 11: 116,124,270 (GRCm39) N183S probably damaging Het
Fam90a1b T C X: 93,400,365 (GRCm39) D155G probably benign Het
Fsip2 G A 2: 82,807,863 (GRCm39) S1394N probably benign Het
Gpatch1 T C 7: 35,007,763 (GRCm39) D99G probably null Het
Grin2b A T 6: 136,021,263 (GRCm39) W13R probably null Het
Hbb-bh1 C T 7: 103,491,024 (GRCm39) V127M probably benign Het
Hc C T 2: 34,929,250 (GRCm39) M282I probably benign Het
Hirip3 A G 7: 126,461,876 (GRCm39) E57G probably damaging Het
Inpp5j C T 11: 3,445,932 (GRCm39) probably null Het
Krt84 A T 15: 101,437,179 (GRCm39) V328E probably damaging Het
Lrriq1 C A 10: 103,053,977 (GRCm39) E247* probably null Het
Mmrn2 T A 14: 34,125,174 (GRCm39) F918L probably damaging Het
Myh13 A G 11: 67,238,769 (GRCm39) E704G possibly damaging Het
Myo16 T A 8: 10,420,908 (GRCm39) N249K probably damaging Het
Nobox C A 6: 43,281,057 (GRCm39) K472N probably damaging Het
Or1j1 T A 2: 36,702,415 (GRCm39) T230S probably benign Het
Orc4 A T 2: 48,807,236 (GRCm39) S232T probably benign Het
Pign A T 1: 105,580,903 (GRCm39) Y159N probably damaging Het
Rere T A 4: 150,700,012 (GRCm39) V1032E possibly damaging Het
Ror2 T C 13: 53,272,999 (GRCm39) Q210R probably benign Het
Sh3tc2 G A 18: 62,123,954 (GRCm39) R905Q probably benign Het
Ttn A G 2: 76,785,327 (GRCm39) S683P possibly damaging Het
Other mutations in Gcnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01693:Gcnt2 APN 13 41,041,549 (GRCm39) missense probably benign
IGL02506:Gcnt2 APN 13 41,040,856 (GRCm39) missense probably benign 0.02
IGL03184:Gcnt2 APN 13 41,041,660 (GRCm39) missense probably benign 0.01
BB001:Gcnt2 UTSW 13 41,072,040 (GRCm39) nonsense probably null
BB011:Gcnt2 UTSW 13 41,072,040 (GRCm39) nonsense probably null
PIT4472001:Gcnt2 UTSW 13 41,071,413 (GRCm39) missense probably benign 0.39
R0358:Gcnt2 UTSW 13 41,014,329 (GRCm39) missense probably damaging 0.99
R0734:Gcnt2 UTSW 13 41,013,997 (GRCm39) missense probably benign 0.00
R1863:Gcnt2 UTSW 13 41,014,577 (GRCm39) missense possibly damaging 0.95
R3103:Gcnt2 UTSW 13 41,072,082 (GRCm39) missense probably benign 0.00
R3156:Gcnt2 UTSW 13 41,014,654 (GRCm39) missense probably benign 0.36
R3893:Gcnt2 UTSW 13 41,013,922 (GRCm39) missense probably benign 0.14
R4134:Gcnt2 UTSW 13 41,041,283 (GRCm39) missense probably damaging 1.00
R4135:Gcnt2 UTSW 13 41,041,283 (GRCm39) missense probably damaging 1.00
R4279:Gcnt2 UTSW 13 41,041,666 (GRCm39) missense probably benign 0.17
R4422:Gcnt2 UTSW 13 41,014,001 (GRCm39) nonsense probably null
R4599:Gcnt2 UTSW 13 41,040,966 (GRCm39) missense probably benign
R4618:Gcnt2 UTSW 13 41,111,670 (GRCm39) nonsense probably null
R4908:Gcnt2 UTSW 13 41,014,210 (GRCm39) missense probably damaging 1.00
R5123:Gcnt2 UTSW 13 41,071,831 (GRCm39) missense probably damaging 0.99
R5291:Gcnt2 UTSW 13 41,072,268 (GRCm39) missense probably damaging 1.00
R5437:Gcnt2 UTSW 13 41,014,652 (GRCm39) missense probably damaging 1.00
R5463:Gcnt2 UTSW 13 41,071,650 (GRCm39) missense possibly damaging 0.80
R5471:Gcnt2 UTSW 13 41,014,195 (GRCm39) missense probably damaging 1.00
R5472:Gcnt2 UTSW 13 41,107,055 (GRCm39) missense probably benign 0.30
R5493:Gcnt2 UTSW 13 41,107,076 (GRCm39) missense possibly damaging 0.70
R5586:Gcnt2 UTSW 13 41,014,429 (GRCm39) missense probably damaging 1.00
R5695:Gcnt2 UTSW 13 41,071,675 (GRCm39) missense probably benign 0.03
R6244:Gcnt2 UTSW 13 41,014,717 (GRCm39) missense probably damaging 1.00
R6293:Gcnt2 UTSW 13 41,072,173 (GRCm39) missense probably damaging 1.00
R7036:Gcnt2 UTSW 13 41,041,032 (GRCm39) frame shift probably null
R7077:Gcnt2 UTSW 13 41,013,896 (GRCm39) missense probably benign
R7432:Gcnt2 UTSW 13 41,040,688 (GRCm39) intron probably benign
R7474:Gcnt2 UTSW 13 41,111,733 (GRCm39) missense probably damaging 1.00
R7508:Gcnt2 UTSW 13 41,041,157 (GRCm39) missense probably benign 0.02
R7599:Gcnt2 UTSW 13 41,014,343 (GRCm39) nonsense probably null
R7678:Gcnt2 UTSW 13 41,107,195 (GRCm39) missense probably benign 0.01
R7806:Gcnt2 UTSW 13 41,071,717 (GRCm39) missense probably damaging 1.00
R7808:Gcnt2 UTSW 13 41,014,338 (GRCm39) missense possibly damaging 0.81
R7909:Gcnt2 UTSW 13 41,013,926 (GRCm39) missense probably benign 0.00
R7924:Gcnt2 UTSW 13 41,072,040 (GRCm39) nonsense probably null
R8110:Gcnt2 UTSW 13 41,071,198 (GRCm39) start gained probably benign
R8287:Gcnt2 UTSW 13 41,014,108 (GRCm39) missense probably damaging 1.00
R8782:Gcnt2 UTSW 13 41,072,229 (GRCm39) missense probably damaging 0.98
R8956:Gcnt2 UTSW 13 41,041,204 (GRCm39) missense probably benign 0.30
R9225:Gcnt2 UTSW 13 41,014,336 (GRCm39) missense probably damaging 1.00
R9357:Gcnt2 UTSW 13 41,041,732 (GRCm39) missense possibly damaging 0.92
Z1088:Gcnt2 UTSW 13 41,072,115 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03