Incidental Mutation 'R3965:C1galt1c1'
ID 312331
Institutional Source Beutler Lab
Gene Symbol C1galt1c1
Ensembl Gene ENSMUSG00000048970
Gene Name C1GALT1-specific chaperone 1
Synonyms 1500002I11Rik, C81205, Cosmc
MMRRC Submission 040934-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.284) question?
Stock # R3965 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 37719662-37723964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37720453 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 181 (V181E)
Ref Sequence ENSEMBL: ENSMUSP00000059224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058265]
AlphaFold Q9JMG2
Predicted Effect probably benign
Transcript: ENSMUST00000058265
AA Change: V181E

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000059224
Gene: ENSMUSG00000048970
AA Change: V181E

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (49/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit embryonic lethality with hemorrhaging. Female mice heterozygous for a knock-out allele exhibit some embryonic lethality with hemorrhage and disorganized vascular system and surviving mice dieing postnatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc121 T A 5: 31,645,335 (GRCm39) C363S probably benign Het
Cep70 T A 9: 99,180,587 (GRCm39) F581I probably damaging Het
Cfap74 T A 4: 155,531,174 (GRCm39) M809K probably damaging Het
Clic6 T C 16: 92,295,732 (GRCm39) S131P probably benign Het
Ctc1 T A 11: 68,921,954 (GRCm39) V800D probably damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dlec1 A G 9: 118,957,649 (GRCm39) I878V probably benign Het
Elapor1 T C 3: 108,365,765 (GRCm39) D998G probably damaging Het
Esyt3 T A 9: 99,202,375 (GRCm39) D512V probably damaging Het
Ewsr1 T C 11: 5,033,476 (GRCm39) Y232C unknown Het
Exoc2 G A 13: 31,061,565 (GRCm39) S492L probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Grin2c G A 11: 115,151,820 (GRCm39) R47W probably damaging Het
Igfn1 T C 1: 135,895,557 (GRCm39) T1670A probably benign Het
Med31 C T 11: 72,102,755 (GRCm39) A118T probably benign Het
Mia2 T A 12: 59,223,158 (GRCm39) S489T probably damaging Het
Mov10l1 A G 15: 88,896,366 (GRCm39) I737V probably benign Het
Muc2 G A 7: 141,286,233 (GRCm39) R120H probably benign Het
Nckap1l T A 15: 103,373,016 (GRCm39) C276* probably null Het
Nrap T C 19: 56,330,576 (GRCm39) S1126G probably damaging Het
Oas1c A G 5: 120,946,783 (GRCm39) F16L probably damaging Het
Or10g9 A T 9: 39,911,767 (GRCm39) V252E possibly damaging Het
Or1ab2 G A 8: 72,864,108 (GRCm39) G233R probably damaging Het
Or5b123 T C 19: 13,596,565 (GRCm39) L13P probably damaging Het
Or8b51 G A 9: 38,569,023 (GRCm39) L222F probably benign Het
Pik3c2g A G 6: 139,801,018 (GRCm39) M388V possibly damaging Het
Pls1 T C 9: 95,667,665 (GRCm39) Q81R probably benign Het
Pole A G 5: 110,460,648 (GRCm39) K1143E probably damaging Het
Ppp6r2 A G 15: 89,143,317 (GRCm39) K155E probably benign Het
Rxra T A 2: 27,642,318 (GRCm39) probably benign Het
Susd5 A G 9: 113,925,260 (GRCm39) E381G possibly damaging Het
Svs5 T C 2: 164,079,662 (GRCm39) T82A possibly damaging Het
Syt14 A T 1: 192,584,175 (GRCm39) H413Q probably benign Het
Tg T A 15: 66,556,039 (GRCm39) D910E probably benign Het
Timd5 T A 11: 46,426,340 (GRCm39) V149D possibly damaging Het
Tpcn1 G T 5: 120,694,640 (GRCm39) T143K probably damaging Het
Trbv5 G T 6: 41,039,342 (GRCm39) probably benign Het
Trhr T A 15: 44,061,095 (GRCm39) I205N possibly damaging Het
Trp73 A G 4: 154,146,493 (GRCm39) V422A probably benign Het
Trpc6 G A 9: 8,626,622 (GRCm39) C324Y probably damaging Het
Upf1 C T 8: 70,791,110 (GRCm39) R544H probably damaging Het
Zfhx4 G T 3: 5,468,907 (GRCm39) V3022F probably damaging Het
Zswim8 G A 14: 20,763,141 (GRCm39) V347I probably benign Het
Other mutations in C1galt1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2105:C1galt1c1 UTSW X 37,720,145 (GRCm39) missense possibly damaging 0.94
R3964:C1galt1c1 UTSW X 37,720,453 (GRCm39) missense probably benign 0.05
R3966:C1galt1c1 UTSW X 37,720,453 (GRCm39) missense probably benign 0.05
R4646:C1galt1c1 UTSW X 37,720,349 (GRCm39) missense probably benign 0.06
R4647:C1galt1c1 UTSW X 37,720,349 (GRCm39) missense probably benign 0.06
R4648:C1galt1c1 UTSW X 37,720,349 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGAAAAGGCCAACGGATTTG -3'
(R):5'- GTGGTTGATGATGAGGAAAGCTTAC -3'

Sequencing Primer
(F):5'- GTATTAAACACATCTTTTCCATCGGC -3'
(R):5'- TGATGAGGAAAGCTTACAAATATGC -3'
Posted On 2015-04-29