Incidental Mutation 'IGL00788:Pcyt1b'
ID 12946
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcyt1b
Ensembl Gene ENSMUSG00000035246
Gene Name phosphate cytidylyltransferase 1, choline, beta isoform
Synonyms CTTbeta
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.475) question?
Stock # IGL00788
Quality Score
Status
Chromosome X
Chromosomal Location 92698469-92793557 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92778515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 255 (F255L)
Ref Sequence ENSEMBL: ENSMUSP00000109566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045898] [ENSMUST00000113933]
AlphaFold Q811Q9
Predicted Effect probably benign
Transcript: ENSMUST00000045898
AA Change: F285L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044280
Gene: ENSMUSG00000035246
AA Change: F285L

DomainStartEndE-ValueType
Pfam:CTP_transf_like 80 208 2e-33 PFAM
low complexity region 319 339 N/A INTRINSIC
low complexity region 346 362 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113933
AA Change: F255L

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109566
Gene: ENSMUSG00000035246
AA Change: F255L

DomainStartEndE-ValueType
Pfam:CTP_transf_2 50 178 1.1e-24 PFAM
low complexity region 289 309 N/A INTRINSIC
low complexity region 316 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146263
Coding Region Coverage
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 belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice reduced fertility, abnormal ovaries with absent corpora lutea and follicles, benign ovarian tumors, seminiferous tubule degeneration, and reduced spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,110,480 (GRCm39) E3061G probably damaging Het
Armh3 C T 19: 45,920,789 (GRCm39) probably null Het
Casd1 A G 6: 4,624,400 (GRCm39) T398A probably benign Het
Ceacam2 C T 7: 25,237,998 (GRCm39) probably null Het
Chst9 A G 18: 15,586,087 (GRCm39) Y159H probably benign Het
Cip2a T A 16: 48,829,432 (GRCm39) probably benign Het
Cops4 A G 5: 100,681,421 (GRCm39) E152G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Dpy19l1 A G 9: 24,373,864 (GRCm39) probably benign Het
Gbp8 T A 5: 105,198,863 (GRCm39) E17D probably benign Het
Grik5 G A 7: 24,764,818 (GRCm39) H108Y probably damaging Het
Gsap G A 5: 21,426,303 (GRCm39) probably benign Het
Gsap G A 5: 21,459,022 (GRCm39) V496M probably damaging Het
Hectd1 C T 12: 51,795,571 (GRCm39) S2286N probably damaging Het
Hgf A T 5: 16,803,228 (GRCm39) Q380L probably damaging Het
Hsd11b1 C T 1: 192,923,766 (GRCm39) M1I probably null Het
Kank2 A G 9: 21,691,775 (GRCm39) probably benign Het
Klhl6 G A 16: 19,775,812 (GRCm39) L249F probably benign Het
Lrba A T 3: 86,234,992 (GRCm39) M846L probably damaging Het
Macrod2 T A 2: 142,052,069 (GRCm39) probably benign Het
Mroh9 A T 1: 162,852,227 (GRCm39) S821T probably benign Het
Myo5a A G 9: 75,076,241 (GRCm39) T819A probably benign Het
Neb A T 2: 52,095,744 (GRCm39) probably benign Het
Rttn T A 18: 88,990,633 (GRCm39) S57T probably benign Het
Senp2 A G 16: 21,837,114 (GRCm39) D121G probably damaging Het
Slc25a21 A T 12: 56,760,597 (GRCm39) probably benign Het
Sorbs1 A G 19: 40,325,487 (GRCm39) probably benign Het
Spats2l T A 1: 57,924,864 (GRCm39) N87K probably damaging Het
Sulf1 A G 1: 12,918,673 (GRCm39) D99G probably damaging Het
Sytl2 T A 7: 90,031,906 (GRCm39) probably benign Het
Trim13 T C 14: 61,843,119 (GRCm39) F379L probably benign Het
Other mutations in Pcyt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02043:Pcyt1b APN X 92,745,722 (GRCm39) missense possibly damaging 0.73
R4682:Pcyt1b UTSW X 92,789,970 (GRCm39) missense probably damaging 1.00
R4683:Pcyt1b UTSW X 92,789,970 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06