Incidental Mutation 'R8325:Cmas'
ID 644051
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 067857-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R8325 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142702468-142721440 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 142717065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000032419
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282

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: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (51/51)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr T C 15: 89,453,954 (GRCm39) V97A probably benign Het
Agrn C T 4: 156,258,119 (GRCm39) G1081D probably benign Het
Ang2 A G 14: 51,432,960 (GRCm39) S141P probably damaging Het
Ap3b2 T C 7: 81,134,237 (GRCm39) probably null Het
Apba2 A T 7: 64,345,730 (GRCm39) T307S probably benign Het
Cadm2 T A 16: 66,612,338 (GRCm39) N84Y possibly damaging Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Ccdc62 T C 5: 124,092,448 (GRCm39) C478R probably benign Het
Cep290 A C 10: 100,353,670 (GRCm39) H801P probably benign Het
Chfr T A 5: 110,310,629 (GRCm39) Y555* probably null Het
Cmtm7 T C 9: 114,592,415 (GRCm39) I61V probably benign Het
Cyb5d2 A G 11: 72,669,651 (GRCm39) S236P possibly damaging Het
Dcp1b C T 6: 119,192,397 (GRCm39) Q438* probably null Het
Dgcr8 T C 16: 18,076,149 (GRCm39) Q678R probably damaging Het
Emc1 T A 4: 139,092,521 (GRCm39) M487K possibly damaging Het
Gm7361 T C 5: 26,467,154 (GRCm39) S258P probably damaging Het
Hbs1l A G 10: 21,183,548 (GRCm39) I96M probably benign Het
Ifi27l2a G A 12: 103,409,144 (GRCm39) A49V unknown Het
Igkv10-96 T C 6: 68,609,088 (GRCm39) Y69C possibly damaging Het
Igsf10 A T 3: 59,225,954 (GRCm39) V2573D probably damaging Het
Kcng3 T C 17: 83,939,007 (GRCm39) N14S possibly damaging Het
Kif20a A G 18: 34,759,975 (GRCm39) T94A possibly damaging Het
Lcp2 T A 11: 34,032,394 (GRCm39) V324E probably benign Het
Lmod3 T C 6: 97,224,379 (GRCm39) K481E probably benign Het
Met A G 6: 17,571,671 (GRCm39) E1330G probably damaging Het
Mroh1 GCCCAGGCCCC GCC 15: 76,316,415 (GRCm39) probably null Het
Mss51 T C 14: 20,534,771 (GRCm39) D333G possibly damaging Het
Nav3 A G 10: 109,541,464 (GRCm39) V1933A probably benign Het
Nbas A G 12: 13,338,796 (GRCm39) Y212C probably damaging Het
Nkapd1 T C 9: 50,521,608 (GRCm39) I104M probably benign Het
Npsr1 C T 9: 24,198,118 (GRCm39) probably benign Het
Nt5e A G 9: 88,245,615 (GRCm39) E295G probably benign Het
Or6b1 T C 6: 42,815,124 (GRCm39) F103S probably damaging Het
Or9m1b A T 2: 87,836,537 (GRCm39) L186Q probably damaging Het
Papss1 A G 3: 131,288,372 (GRCm39) T136A probably benign Het
Pcdha1 A T 18: 37,063,867 (GRCm39) D177V possibly damaging Het
Pcolce2 A T 9: 95,574,973 (GRCm39) S308C probably damaging Het
Pdhx G T 2: 102,872,597 (GRCm39) P162T probably benign Het
Plin3 C T 17: 56,593,268 (GRCm39) R98Q probably benign Het
Prr36 T C 8: 4,262,982 (GRCm39) T895A probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rnf213 A G 11: 119,321,271 (GRCm39) N1243S Het
Serpinb1b A T 13: 33,277,584 (GRCm39) K272N probably benign Het
Sez6l A T 5: 112,575,982 (GRCm39) probably null Het
Syne1 A T 10: 5,096,257 (GRCm39) M739K probably benign Het
Tbc1d9 G A 8: 83,966,667 (GRCm39) probably null Het
Trp53inp1 A G 4: 11,164,561 (GRCm39) D35G probably damaging Het
Trpc7 A G 13: 56,952,524 (GRCm39) V549A probably damaging Het
Usp18 T C 6: 121,230,769 (GRCm39) L66S probably damaging Het
Vmn1r238 C T 18: 3,122,529 (GRCm39) S295N probably benign Het
Vmn2r29 T C 7: 7,244,941 (GRCm39) D311G probably damaging Het
Vmn2r91 C A 17: 18,356,625 (GRCm39) A764D probably damaging Het
Wdfy4 T A 14: 32,689,444 (GRCm39) I3031F Het
Wdr7 A G 18: 63,911,535 (GRCm39) 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
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
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'- TGCTCACAGTTCTGTCTCGG -3'
(R):5'- AGTTGCCAACGCTAGTTAAGG -3'

Sequencing Primer
(F):5'- ACAGTTCTGTCTCGGTTTCTTTTAG -3'
(R):5'- CCTTGTTTAAGGTCCTATGGAAAAGG -3'
Posted On 2020-09-02