Incidental Mutation 'R2989:C1galt1'
ID 257860
Institutional Source Beutler Lab
Gene Symbol C1galt1
Ensembl Gene ENSMUSG00000042460
Gene Name core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Synonyms 2210410E06Rik, T-synthase, core 1 beta3-Gal-T
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2989 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 7845224-7872042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7866622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 156 (D156G)
Ref Sequence ENSEMBL: ENSMUSP00000047931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040159]
AlphaFold Q9JJ06
Predicted Effect possibly damaging
Transcript: ENSMUST00000040159
AA Change: D156G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047931
Gene: ENSMUSG00000042460
AA Change: D156G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Fringe 83 283 3e-18 PFAM
Pfam:Galactosyl_T 108 258 6.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203898
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
PHENOTYPE: Embryos homozygous for a null allele show impaired angiogenesis, chaotic microvascular networks in brain, and fatal hemorrhage by E14. Eggs homozygous for another null allele show a slightly thinner zona pellucida. Mice homozygous for an ENU-induced allele develop thrombocytopenia and renal disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,729,866 (GRCm39) T205I probably damaging Het
Arhgap32 T A 9: 32,150,694 (GRCm39) N31K possibly damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Coil C A 11: 88,878,805 (GRCm39) A520D probably damaging Het
Cpe G T 8: 65,050,549 (GRCm39) N386K probably benign Het
Fat4 T C 3: 39,061,302 (GRCm39) I4295T probably benign Het
Foxn1 C G 11: 78,249,603 (GRCm39) G641R possibly damaging Het
G530012D18Rik GAGAGAGACAGAGAGACAGAGA GAGAGAGACAGAGA 1: 85,504,937 (GRCm39) probably null Het
Intu A G 3: 40,647,140 (GRCm39) K671R probably benign Het
Jup T C 11: 100,267,667 (GRCm39) D552G possibly damaging Het
Kcnk9 T C 15: 72,384,207 (GRCm39) T324A unknown Het
Mettl5 G T 2: 69,711,659 (GRCm39) A69E probably damaging Het
Or8b3b A T 9: 38,583,831 (GRCm39) M303K probably benign Het
Rpf2 A G 10: 40,115,749 (GRCm39) S77P probably benign Het
Sgo1 A G 17: 53,994,162 (GRCm39) Y97H probably benign Het
Srsf12 T C 4: 33,223,599 (GRCm39) Y33H probably damaging Het
Tcerg1 T A 18: 42,652,540 (GRCm39) M56K unknown Het
Trafd1 T C 5: 121,517,529 (GRCm39) T63A probably damaging Het
Ttc28 G A 5: 111,371,881 (GRCm39) V777I probably benign Het
Ubr4 A G 4: 139,190,869 (GRCm39) E937G possibly damaging Het
Zfp677 T C 17: 21,617,114 (GRCm39) I57T probably benign Het
Zfp981 T A 4: 146,622,347 (GRCm39) I424N probably benign Het
Other mutations in C1galt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00696:C1galt1 APN 6 7,866,475 (GRCm39) missense probably damaging 0.98
PIT4378001:C1galt1 UTSW 6 7,863,944 (GRCm39) missense probably benign 0.01
R0086:C1galt1 UTSW 6 7,867,051 (GRCm39) splice site probably benign
R0540:C1galt1 UTSW 6 7,871,193 (GRCm39) missense probably benign 0.00
R0567:C1galt1 UTSW 6 7,866,874 (GRCm39) missense probably damaging 1.00
R0607:C1galt1 UTSW 6 7,871,193 (GRCm39) missense probably benign 0.00
R1519:C1galt1 UTSW 6 7,866,402 (GRCm39) missense probably damaging 0.99
R1712:C1galt1 UTSW 6 7,871,217 (GRCm39) missense probably benign
R3035:C1galt1 UTSW 6 7,866,762 (GRCm39) missense probably benign 0.06
R4271:C1galt1 UTSW 6 7,866,607 (GRCm39) missense probably damaging 1.00
R4749:C1galt1 UTSW 6 7,866,379 (GRCm39) missense probably benign 0.42
R5029:C1galt1 UTSW 6 7,863,931 (GRCm39) missense possibly damaging 0.95
R5393:C1galt1 UTSW 6 7,864,143 (GRCm39) critical splice donor site probably null
R5448:C1galt1 UTSW 6 7,866,658 (GRCm39) missense possibly damaging 0.95
R7055:C1galt1 UTSW 6 7,866,585 (GRCm39) missense probably damaging 1.00
R7319:C1galt1 UTSW 6 7,871,150 (GRCm39) missense probably damaging 1.00
R8887:C1galt1 UTSW 6 7,866,379 (GRCm39) missense probably benign 0.42
R9355:C1galt1 UTSW 6 7,866,474 (GRCm39) missense probably damaging 1.00
R9755:C1galt1 UTSW 6 7,867,019 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGCTGAGAACCTCTATCAGAAAG -3'
(R):5'- CTTGCTTAGGACATAGCCCG -3'

Sequencing Primer
(F):5'- GGGTTATGACAAGTCCTCAAAATC -3'
(R):5'- TAGGACATAGCCCGCTCCTC -3'
Posted On 2015-01-11