Incidental Mutation 'R6774:Cmas'
ID 532282
Institutional Source Beutler Lab
Gene Symbol Cmas
Ensembl Gene ENSMUSG00000030282
Gene Name cytidine monophospho-N-acetylneuraminic acid synthetase
Synonyms D6Bwg0250e, CMP-Neu5Ac synthase, CMP-sialic acid synthetase
MMRRC Submission 044890-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R6774 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142702468-142721440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142710147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 130 (Y130C)
Ref Sequence ENSEMBL: ENSMUSP00000032419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032419] [ENSMUST00000133248] [ENSMUST00000144920]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032419
AA Change: Y130C

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: Y130C

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:CTP_transf_3 44 301 3.8e-69 PFAM
Pfam:NTP_transf_3 45 228 1.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133248
SMART Domains Protein: ENSMUSP00000144875
Gene: ENSMUSG00000030282

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:CTP_transf_3 44 85 2.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144920
SMART Domains Protein: ENSMUSP00000145392
Gene: ENSMUSG00000030282

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:CTP_transf_3 44 85 2.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204147
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,163,908 (GRCm39) I822N probably damaging Het
9930111J21Rik1 A G 11: 48,838,143 (GRCm39) S815P possibly damaging Het
A430033K04Rik A G 5: 138,644,712 (GRCm39) Y199C probably benign Het
Adam34l T A 8: 44,078,220 (GRCm39) H668L probably benign Het
Afap1l1 A T 18: 61,888,732 (GRCm39) V113E probably benign Het
Ahnak2 C T 12: 112,740,172 (GRCm39) C494Y possibly damaging Het
Atr A T 9: 95,809,266 (GRCm39) E1981D probably benign Het
Bmp7 A G 2: 172,714,751 (GRCm39) Y353H probably damaging Het
Capn11 C T 17: 45,968,256 (GRCm39) probably benign Het
Ccdc103 T C 11: 102,773,519 (GRCm39) F47S probably damaging Het
Cntn5 T C 9: 10,144,222 (GRCm39) Y149C probably damaging Het
Col12a1 A C 9: 79,613,619 (GRCm39) S75R possibly damaging Het
Crat G A 2: 30,303,195 (GRCm39) H31Y probably damaging Het
Dnah7a A G 1: 53,737,810 (GRCm39) V41A probably benign Het
F5 C T 1: 164,014,447 (GRCm39) R573C probably damaging Het
Gcc2 A G 10: 58,117,261 (GRCm39) N1170S possibly damaging Het
Gm29666 A T 15: 84,798,260 (GRCm39) C100* probably null Het
Gm3573 A T 14: 42,009,472 (GRCm39) Y158N possibly damaging Het
Gtf3c1 G T 7: 125,240,793 (GRCm39) A1968E possibly damaging Het
Heg1 C A 16: 33,558,638 (GRCm39) T815K probably damaging Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Kif17 A G 4: 138,002,306 (GRCm39) Y170C probably damaging Het
Kti12 G A 4: 108,705,652 (GRCm39) G189R probably benign Het
Lrp4 G A 2: 91,341,849 (GRCm39) A1821T probably benign Het
Mamdc4 T C 2: 25,456,948 (GRCm39) I610V probably benign Het
Mmp1b T C 9: 7,387,914 (GRCm39) K27E probably benign Het
Mob4 A G 1: 55,187,588 (GRCm39) probably null Het
Myc G A 15: 61,860,128 (GRCm39) probably null Het
Myo5c A T 9: 75,196,468 (GRCm39) I1305F probably benign Het
Nprl3 A G 11: 32,187,381 (GRCm39) V292A probably damaging Het
Ntng2 T C 2: 29,087,102 (GRCm39) T373A probably damaging Het
Or1f19 T A 16: 3,410,380 (GRCm39) V40D probably damaging Het
Or4a67 C T 2: 88,598,228 (GRCm39) V144I probably benign Het
Or5p50 T A 7: 107,422,395 (GRCm39) T94S probably benign Het
Or7e171-ps1 A T 9: 19,853,070 (GRCm39) L222H unknown Het
Pard3 T C 8: 128,137,228 (GRCm39) L859P probably damaging Het
Ppcs T C 4: 119,276,285 (GRCm39) D100G probably damaging Het
Prkdc G T 16: 15,543,325 (GRCm39) probably null Het
Pwwp2b T C 7: 138,835,903 (GRCm39) V448A probably benign Het
Rapgef4 A G 2: 72,056,119 (GRCm39) K624R probably benign Het
Spata31e5 A T 1: 28,815,974 (GRCm39) I686N probably benign Het
Synj2 C T 17: 6,088,290 (GRCm39) S1447L possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tnxb C A 17: 34,928,606 (GRCm39) Y2673* probably null Het
Trim27 T A 13: 21,376,624 (GRCm39) H457Q probably damaging Het
Trim72 T G 7: 127,609,558 (GRCm39) F453L probably damaging Het
Ubr5 A T 15: 38,015,379 (GRCm39) M877K probably damaging Het
Usp10 T C 8: 120,678,711 (GRCm39) L564P probably benign Het
Usp54 A G 14: 20,627,296 (GRCm39) V454A probably damaging Het
Uspl1 T A 5: 149,150,904 (GRCm39) D701E probably benign Het
Vmn2r103 A G 17: 19,993,773 (GRCm39) H50R probably benign Het
Zfp35 G A 18: 24,136,015 (GRCm39) V120I possibly damaging Het
Zfp712 T C 13: 67,189,568 (GRCm39) T320A probably benign Het
Other mutations in Cmas
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0558:Cmas UTSW 6 142,720,970 (GRCm39) nonsense probably null
R0798:Cmas UTSW 6 142,710,382 (GRCm39) missense probably damaging 1.00
R1172:Cmas UTSW 6 142,702,604 (GRCm39) missense probably benign 0.01
R1453:Cmas UTSW 6 142,717,853 (GRCm39) missense probably damaging 1.00
R1983:Cmas UTSW 6 142,716,312 (GRCm39) missense probably damaging 0.98
R2147:Cmas UTSW 6 142,717,015 (GRCm39) missense probably benign 0.18
R3795:Cmas UTSW 6 142,713,594 (GRCm39) missense probably benign 0.03
R4378:Cmas UTSW 6 142,718,011 (GRCm39) unclassified probably benign
R4768:Cmas UTSW 6 142,710,157 (GRCm39) critical splice donor site probably null
R6430:Cmas UTSW 6 142,713,650 (GRCm39) missense probably benign
R6824:Cmas UTSW 6 142,716,962 (GRCm39) missense possibly damaging 0.90
R6980:Cmas UTSW 6 142,702,526 (GRCm39) missense probably damaging 0.97
R7256:Cmas UTSW 6 142,716,312 (GRCm39) missense probably damaging 1.00
R7776:Cmas UTSW 6 142,710,283 (GRCm39) missense probably damaging 0.99
R7969:Cmas UTSW 6 142,720,892 (GRCm39) missense probably damaging 1.00
R8325:Cmas UTSW 6 142,717,065 (GRCm39) critical splice donor site probably null
R8363:Cmas UTSW 6 142,702,554 (GRCm39) missense probably benign 0.08
R8489:Cmas UTSW 6 142,702,596 (GRCm39) missense probably benign 0.00
R8720:Cmas UTSW 6 142,716,929 (GRCm39) missense probably damaging 1.00
R8747:Cmas UTSW 6 142,716,927 (GRCm39) missense possibly damaging 0.92
R9056:Cmas UTSW 6 142,710,105 (GRCm39) missense probably damaging 1.00
R9648:Cmas UTSW 6 142,716,935 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TACGTTGGCAGTCCCTTCTG -3'
(R):5'- TCTGCAACTTTCTGGAGGTC -3'

Sequencing Primer
(F):5'- TGGCAGTCCCTTCTGGTGAC -3'
(R):5'- CAACTTTCTGGAGGTCAGTGG -3'
Posted On 2018-08-29