Incidental Mutation 'R6430:Cmas'
ID 518478
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 044568-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R6430 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142702468-142721440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142713650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 225 (M225K)
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: M225K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: M225K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,722 (GRCm39) probably benign Het
Ank1 T A 8: 23,622,125 (GRCm39) L1513Q probably damaging Het
Ap2a1 C A 7: 44,553,253 (GRCm39) V676L probably benign Het
Arid2 T C 15: 96,261,575 (GRCm39) V477A probably benign Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
B3gnt7 T C 1: 86,233,839 (GRCm39) F362L possibly damaging Het
Cd207 C T 6: 83,652,869 (GRCm39) R87H probably benign Het
Cdyl A G 13: 36,055,589 (GRCm39) K503R possibly damaging Het
Cep350 A G 1: 155,770,419 (GRCm39) S1824P probably damaging Het
Dhx29 T C 13: 113,081,153 (GRCm39) S396P possibly damaging Het
Epg5 T C 18: 78,019,100 (GRCm39) S958P probably damaging Het
Espnl T C 1: 91,249,970 (GRCm39) L39P possibly damaging Het
Fcsk A G 8: 111,610,748 (GRCm39) V915A probably benign Het
Flacc1 T A 1: 58,717,448 (GRCm39) K154N probably damaging Het
Gatb A G 3: 85,544,345 (GRCm39) N438D probably benign Het
Hspg2 T C 4: 137,266,707 (GRCm39) C1932R probably damaging Het
Jmjd1c C T 10: 67,059,939 (GRCm39) T662I possibly damaging Het
Kcng4 A G 8: 120,359,789 (GRCm39) S196P probably damaging Het
Kcnh7 T G 2: 62,680,876 (GRCm39) H237P probably benign Het
Klhl38 T C 15: 58,185,707 (GRCm39) T341A probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Man2c1 T C 9: 57,038,517 (GRCm39) V59A possibly damaging Het
Nr2c1 A T 10: 94,031,203 (GRCm39) H588L possibly damaging Het
Or14a259 A T 7: 86,013,181 (GRCm39) Y121* probably null Het
Or2j3 T C 17: 38,616,249 (GRCm39) I34M probably benign Het
Osbpl6 A G 2: 76,409,620 (GRCm39) E494G probably damaging Het
Per1 T C 11: 68,995,122 (GRCm39) L638S probably damaging Het
Plekhn1 T C 4: 156,306,261 (GRCm39) E603G probably benign Het
Prss12 A T 3: 123,273,243 (GRCm39) S280C probably damaging Het
Pudp A G 18: 50,701,307 (GRCm39) I142T probably benign Het
Rabl6 A T 2: 25,474,849 (GRCm39) N620K probably damaging Het
Rttn T A 18: 89,039,809 (GRCm39) C837S probably null Het
Slc16a7 A G 10: 125,066,887 (GRCm39) S251P probably damaging Het
Slc7a10 A G 7: 34,897,083 (GRCm39) I195V probably benign Het
Slc9a4 A T 1: 40,640,014 (GRCm39) R269* probably null Het
Slco6c1 T A 1: 97,003,699 (GRCm39) Q466L probably benign Het
Smc6 A G 12: 11,359,235 (GRCm39) N953S probably benign Het
Tex15 T C 8: 34,061,329 (GRCm39) V527A probably benign Het
Tln2 T C 9: 67,179,947 (GRCm39) Y808C probably damaging Het
Tmem145 T C 7: 25,008,463 (GRCm39) L289P possibly damaging Het
Trim3 A G 7: 105,267,212 (GRCm39) V389A probably benign Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Vps11 C A 9: 44,272,847 (GRCm39) A28S probably benign Het
Zbtb41 T A 1: 139,374,945 (GRCm39) S802T probably benign Het
Zmynd10 A T 9: 107,425,911 (GRCm39) K82* probably null 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
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'- CAGATGTCTGCATTCTGAGGGG -3'
(R):5'- GTGTTCCACTGAGCAGACTACAC -3'

Sequencing Primer
(F):5'- CTGCATTCTGAGGGGAGTTTTATTTG -3'
(R):5'- GACTACACAGACAGTTCCTGGG -3'
Posted On 2018-05-24