Incidental Mutation 'R6824:Cmas'
ID 534050
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 044936-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R6824 (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 142716962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 285 (T285A)
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: T285A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: T285A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 A G 6: 39,552,058 (GRCm39) D275G probably benign Het
Cdh4 G A 2: 179,439,351 (GRCm39) R166H probably damaging Het
Chl1 A G 6: 103,691,510 (GRCm39) K1051E probably damaging Het
Chn2 A T 6: 54,249,938 (GRCm39) M16L probably benign Het
Cnga4 A T 7: 105,056,036 (GRCm39) M213L probably benign Het
Ctif C T 18: 75,654,782 (GRCm39) R248Q probably damaging Het
Cyth3 T C 5: 143,672,265 (GRCm39) I60T probably damaging Het
Dach1 A G 14: 98,256,328 (GRCm39) I310T possibly damaging Het
Defb6 T C 8: 19,278,099 (GRCm39) I57T probably benign Het
Dnajc27 T C 12: 4,156,897 (GRCm39) V262A possibly damaging Het
Emsy G A 7: 98,242,614 (GRCm39) T1175M probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat4 T A 3: 39,011,674 (GRCm39) V2258E probably benign Het
Gm136 G A 4: 34,746,591 (GRCm39) T140I probably benign Het
Gps1 T C 11: 120,678,254 (GRCm39) F265S probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Hnrnpul2 T C 19: 8,804,081 (GRCm39) V560A possibly damaging Het
Kmt2b A G 7: 30,285,701 (GRCm39) probably benign Het
Krt8 T C 15: 101,906,875 (GRCm39) N317S possibly damaging Het
Lad1 A G 1: 135,755,479 (GRCm39) T252A probably benign Het
Maml2 G A 9: 13,608,513 (GRCm39) S743N possibly damaging Het
Mrpl9 C A 3: 94,350,677 (GRCm39) P7H possibly damaging Het
Myb T A 10: 21,021,019 (GRCm39) H470L probably benign Het
Nicol1 T C 5: 34,141,069 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,042,542 (GRCm39) I56T probably benign Het
Nrdc A G 4: 108,900,622 (GRCm39) Y338C probably damaging Het
Or13n4 A G 7: 106,423,664 (GRCm39) V23A probably benign Het
Pcdhb20 T A 18: 37,638,752 (GRCm39) M426K probably benign Het
Pde6d T C 1: 86,473,485 (GRCm39) T104A possibly damaging Het
Ptprz1 A T 6: 23,002,130 (GRCm39) T1407S probably benign Het
Recql5 C T 11: 115,814,038 (GRCm39) R369Q possibly damaging Het
Rnf180 T A 13: 105,318,023 (GRCm39) D463V probably damaging Het
Sart3 C T 5: 113,882,600 (GRCm39) probably null Het
Sdk2 T C 11: 113,758,760 (GRCm39) D488G probably benign Het
Slc9a9 C T 9: 95,109,251 (GRCm39) P538S probably damaging Het
Snap29 A G 16: 17,240,370 (GRCm39) K159E probably benign Het
Spaca1 A G 4: 34,049,869 (GRCm39) V43A probably benign Het
Stk10 T C 11: 32,537,363 (GRCm39) S191P probably damaging Het
Tbc1d1 A G 5: 64,414,245 (GRCm39) H73R probably benign Het
Tcerg1l A G 7: 137,995,844 (GRCm39) probably null Het
Tmem67 T C 4: 12,051,449 (GRCm39) Y793C probably damaging Het
Ttll12 A T 15: 83,475,578 (GRCm39) probably null Het
Vmn2r61 G T 7: 41,949,403 (GRCm39) V608L probably benign Het
Xpo4 A T 14: 57,850,860 (GRCm39) I348N probably damaging Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M 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
R6774:Cmas UTSW 6 142,710,147 (GRCm39) missense possibly damaging 0.81
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'- AGTGTCTGAGTGGTCCACAG -3'
(R):5'- ATCTCTTAAGTGCTGGAGTGC -3'

Sequencing Primer
(F):5'- CTCAGAGCAGTGTCTGAGTGAC -3'
(R):5'- GAGTGCTCCCTGAATCAGAATCTTG -3'
Posted On 2018-09-12