Incidental Mutation 'R3795:Cmas'
ID 272726
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R3795 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 142702468-142721440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142713594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 206 (D206E)
Ref Sequence ENSEMBL: ENSMUSP00000032419 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032419] [ENSMUST00000133248] [ENSMUST00000144920]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032419
AA Change: D206E

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: D206E

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 noncoding transcript
Transcript: ENSMUST00000146643
Predicted Effect probably benign
Transcript: ENSMUST00000204147
Meta Mutation Damage Score 0.0618 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (32/33)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,212 (GRCm39) T10A probably benign Het
Adh1 T A 3: 137,985,526 (GRCm39) L18H possibly damaging Het
Bltp1 A G 3: 37,084,714 (GRCm39) T426A probably benign Het
Capn13 C A 17: 73,644,387 (GRCm39) V381L probably benign Het
Cfap54 T C 10: 92,778,735 (GRCm39) probably benign Het
Cntnap1 A G 11: 101,077,590 (GRCm39) E1084G probably damaging Het
Cpz A G 5: 35,669,093 (GRCm39) V346A probably benign Het
Dhrs3 A G 4: 144,645,962 (GRCm39) D116G probably damaging Het
Efcab3 A G 11: 104,624,501 (GRCm39) E844G possibly damaging Het
Inpp4b T C 8: 82,759,845 (GRCm39) V445A probably damaging Het
Katnip A G 7: 125,419,261 (GRCm39) N476S probably benign Het
Lhx2 T C 2: 38,243,359 (GRCm39) C12R probably damaging Het
Map3k2 T C 18: 32,359,701 (GRCm39) M518T probably benign Het
Mrc1 T A 2: 14,293,793 (GRCm39) probably benign Het
Nlrp4e T A 7: 23,020,228 (GRCm39) D238E probably benign Het
Obscn A G 11: 58,922,667 (GRCm39) Y6543H probably damaging Het
Pigv A G 4: 133,392,502 (GRCm39) S223P possibly damaging Het
Pkdcc A G 17: 83,531,382 (GRCm39) T464A probably damaging Het
Polr2k A G 15: 36,175,193 (GRCm39) I18V probably damaging Het
Psg20 A G 7: 18,418,374 (GRCm39) V131A probably benign Het
Ptpro T C 6: 137,357,307 (GRCm39) F266S probably benign Het
S100a7l2 T C 3: 90,995,730 (GRCm39) I57M possibly damaging Het
Sdk2 G A 11: 113,747,522 (GRCm39) R663* probably null Het
Szt2 G T 4: 118,248,927 (GRCm39) L586I probably damaging Het
Tln2 T C 9: 67,163,197 (GRCm39) I1113V probably damaging Het
Ube2ql1 G T 13: 69,852,231 (GRCm39) A282E possibly damaging Het
Vmn2r50 T A 7: 9,771,851 (GRCm39) M617L probably benign Het
Wdfy3 A G 5: 102,085,466 (GRCm39) V676A probably damaging Het
Wdr47 T C 3: 108,532,053 (GRCm39) probably null Het
Zbp1 T C 2: 173,053,972 (GRCm39) H183R probably benign Het
Zfp352 C T 4: 90,113,386 (GRCm39) H509Y probably damaging Het
Zfp988 G A 4: 147,416,040 (GRCm39) R158Q possibly damaging 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
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
R6774:Cmas UTSW 6 142,710,147 (GRCm39) missense possibly damaging 0.81
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'- CAGATGTCTGCATTCTGAGGG -3'
(R):5'- AGTGTTCCACTGAGCAGAC -3'

Sequencing Primer
(F):5'- CTGCATTCTGAGGGGAGTTTTATTTG -3'
(R):5'- GACTACACAGACAGTTCCTGGG -3'
Posted On 2015-03-25