Incidental Mutation 'R7776:Cmas'
ID 598887
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 045832-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R7776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 142702468-142721440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142710283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 134 (V134A)
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 damaging
Transcript: ENSMUST00000032419
AA Change: V134A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: V134A

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 silent
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 silent
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,832,214 (GRCm39) probably null Het
Abca3 T A 17: 24,605,250 (GRCm39) V716D possibly damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Alkbh1 A G 12: 87,478,215 (GRCm39) V232A probably damaging Het
Arhgef10l T A 4: 140,302,642 (GRCm39) I271F probably damaging Het
Aspm T A 1: 139,407,584 (GRCm39) M2157K possibly damaging Het
Capn13 G A 17: 73,629,049 (GRCm39) S586L probably benign Het
Cd3g A T 9: 44,885,459 (GRCm39) probably null Het
Cfap54 A T 10: 92,704,603 (GRCm39) Y2826N unknown Het
Cnp A G 11: 100,469,814 (GRCm39) H250R probably damaging Het
Dact1 G A 12: 71,364,688 (GRCm39) A453T probably benign Het
Dcaf6 T A 1: 165,179,623 (GRCm39) R506* probably null Het
Dph1 A G 11: 75,081,272 (GRCm39) V5A probably benign Het
Entpd3 A G 9: 120,387,568 (GRCm39) Y255C probably damaging Het
Etl4 A T 2: 20,811,957 (GRCm39) T1715S probably damaging Het
Exd2 T A 12: 80,539,334 (GRCm39) H466Q probably damaging Het
Fbln2 A G 6: 91,246,181 (GRCm39) N1056S probably damaging Het
Fcrl5 A T 3: 87,351,502 (GRCm39) Q250L possibly damaging Het
Fignl2 A G 15: 100,951,301 (GRCm39) V327A unknown Het
Gm10226 T A 17: 21,910,866 (GRCm39) C34S possibly damaging Het
H2bc6 A T 13: 23,769,938 (GRCm39) M1K probably null Het
Kdm6b A G 11: 69,296,960 (GRCm39) S436P possibly damaging Het
Lmnb2 G T 10: 80,753,991 (GRCm39) A21E possibly damaging Het
Mcf2l A T 8: 12,930,127 (GRCm39) E49V probably benign Het
Muc2 A G 7: 141,290,942 (GRCm39) E76G Het
Naa60 T C 16: 3,718,573 (GRCm39) I135T probably benign Het
Neb T C 2: 52,097,713 (GRCm39) Y4924C possibly damaging Het
Nlrp10 T A 7: 108,524,656 (GRCm39) I275F probably damaging Het
Nr3c2 T C 8: 77,636,174 (GRCm39) V425A possibly damaging Het
Nucb2 T A 7: 116,128,248 (GRCm39) D286E probably damaging Het
Nynrin G A 14: 56,103,420 (GRCm39) G755S probably damaging Het
Or5d41 T C 2: 88,054,429 (GRCm39) T316A probably damaging Het
Padi2 T A 4: 140,651,656 (GRCm39) D135E probably benign Het
Pcdha6 T A 18: 37,103,034 (GRCm39) S742R probably benign Het
Pcdhgb5 T A 18: 37,866,007 (GRCm39) S601T probably damaging Het
Pira13 T C 7: 3,826,246 (GRCm39) N249S unknown Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Prr15l T C 11: 96,825,390 (GRCm39) W7R possibly damaging Het
Ptpn23 G A 9: 110,215,368 (GRCm39) H1431Y possibly damaging Het
Rnf20 C T 4: 49,644,592 (GRCm39) Q286* probably null Het
Rptor T C 11: 119,783,453 (GRCm39) I1149T probably benign Het
Sfrp2 A G 3: 83,674,086 (GRCm39) I80V probably benign Het
Slc38a2 T C 15: 96,588,033 (GRCm39) D497G probably benign Het
Slc43a1 T A 2: 84,671,197 (GRCm39) M44K probably damaging Het
Stil T A 4: 114,890,035 (GRCm39) V841E possibly damaging Het
Stip1 T A 19: 6,999,141 (GRCm39) H479L probably benign Het
Supt6 A G 11: 78,100,355 (GRCm39) Y1486H probably damaging Het
Taf6 T C 5: 138,180,282 (GRCm39) D324G probably damaging Het
Tgif1 T A 17: 71,158,452 (GRCm39) probably benign Het
Tmprss11f T C 5: 86,681,605 (GRCm39) E216G probably benign Het
Tmprss7 C A 16: 45,488,014 (GRCm39) A472S probably benign Het
Trpm1 T A 7: 63,897,939 (GRCm39) F1191I probably benign Het
Tspan12 T A 6: 21,836,442 (GRCm39) N40I probably damaging Het
Ttll3 AAGTA AAGTACAGTA 6: 113,376,120 (GRCm39) probably null Het
Unc13c A T 9: 73,602,232 (GRCm39) I1338N probably damaging Het
Vegfc T A 8: 54,530,835 (GRCm39) S8T unknown Het
Vmn1r59 T A 7: 5,457,634 (GRCm39) Q42L probably damaging Het
Vmn2r-ps117 A T 17: 19,043,934 (GRCm39) I337F probably damaging Het
Xylb G A 9: 119,209,766 (GRCm39) probably null Het
Zfp551 T A 7: 12,152,569 (GRCm39) I55F probably damaging Het
Zfp972 T C 2: 177,563,532 (GRCm39) N27S 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
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
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'- AGCTCTACCTCACTAGACGC -3'
(R):5'- CACTGTCAGTGTTCCCTAGC -3'

Sequencing Primer
(F):5'- GACGCCATTGTAGAATTCCTG -3'
(R):5'- AGCTTGGCTTTTAGTACAATGAG -3'
Posted On 2019-11-26