Incidental Mutation 'R8363:Cmas'
ID 646053
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 067654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R8363 (G1)
Quality Score 185.009
Status Not validated
Chromosome 6
Chromosomal Location 142702468-142721440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 142702554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 19 (P19L)
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: P19L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: P19L

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 possibly damaging
Transcript: ENSMUST00000133248
AA Change: P19L

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144875
Gene: ENSMUSG00000030282
AA Change: P19L

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:CTP_transf_3 44 85 2.8e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144920
AA Change: P19L

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145392
Gene: ENSMUSG00000030282
AA Change: P19L

DomainStartEndE-ValueType
low complexity region 11 25 N/A INTRINSIC
Pfam:CTP_transf_3 44 85 2.8e-13 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,055,800 (GRCm39) I375L Het
Adamts18 C T 8: 114,493,795 (GRCm39) G448D probably damaging Het
Bzw2 A G 12: 36,180,122 (GRCm39) V35A probably benign Het
C2cd4d C T 3: 94,271,157 (GRCm39) T141M probably benign Het
Chchd4 T A 6: 91,444,737 (GRCm39) K17* probably null Het
Colec10 A G 15: 54,274,238 (GRCm39) H22R probably benign Het
D630045J12Rik T C 6: 38,125,376 (GRCm39) D1546G probably damaging Het
Dgki A T 6: 36,993,613 (GRCm39) C583S probably damaging Het
Dhrs13 G T 11: 77,925,343 (GRCm39) V205L probably damaging Het
Eif4a3l1 T G 6: 136,306,453 (GRCm39) S305A probably benign Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Erc1 T C 6: 119,730,260 (GRCm39) D612G probably benign Het
Fam163b G A 2: 27,002,650 (GRCm39) R116C probably benign Het
Gm5160 T C 18: 14,557,929 (GRCm39) V2A possibly damaging Het
Gm8247 A T 14: 44,823,919 (GRCm39) I202F Het
Gnpat T C 8: 125,590,038 (GRCm39) V21A probably benign Het
Igfn1 A T 1: 135,891,625 (GRCm39) S2297T probably benign Het
Igkv13-85 A G 6: 68,907,269 (GRCm39) Y111H probably damaging Het
Il17rd A G 14: 26,813,906 (GRCm39) N206D probably damaging Het
Il1r2 G A 1: 40,160,095 (GRCm39) V272M probably damaging Het
Ivl T A 3: 92,479,525 (GRCm39) H180L possibly damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kirrel2 A G 7: 30,152,968 (GRCm39) V350A probably damaging Het
Mcpt4 A G 14: 56,299,692 (GRCm39) S14P probably damaging Het
Mdm2 A G 10: 117,526,239 (GRCm39) V449A probably damaging Het
Mga T C 2: 119,794,407 (GRCm39) V2697A probably benign Het
Mlxipl T C 5: 135,135,930 (GRCm39) F52L probably benign Het
Mtarc2 A G 1: 184,566,055 (GRCm39) probably null Het
Ndst3 T C 3: 123,350,517 (GRCm39) S623G possibly damaging Het
Oas1a C T 5: 121,043,902 (GRCm39) A77T probably damaging Het
Or4d1 A T 11: 87,805,069 (GRCm39) I221N probably damaging Het
Or9a2 T C 6: 41,748,684 (GRCm39) Q183R probably benign Het
P3h2 A G 16: 25,811,468 (GRCm39) F252L probably damaging Het
Psme4 A G 11: 30,762,139 (GRCm39) D493G probably damaging Het
Rab3ip A C 10: 116,754,869 (GRCm39) I229S probably damaging Het
Ralgapb T C 2: 158,268,119 (GRCm39) L74P probably damaging Het
Scn1a G T 2: 66,152,601 (GRCm39) N804K probably damaging Het
Slc22a6 A T 19: 8,596,386 (GRCm39) H124L probably benign Het
Slc6a6 A G 6: 91,727,277 (GRCm39) I492V probably benign Het
Snx2 G T 18: 53,330,936 (GRCm39) E134* probably null Het
Stt3b A G 9: 115,083,988 (GRCm39) I396T probably damaging Het
Tcp11 A G 17: 28,288,221 (GRCm39) S415P possibly damaging Het
Vmn2r67 A T 7: 84,804,969 (GRCm39) S48T probably benign Het
Vps16 T A 2: 130,284,161 (GRCm39) F665L probably benign Het
Wdhd1 A T 14: 47,513,989 (GRCm39) D22E probably damaging Het
Zng1 A T 19: 24,920,091 (GRCm39) H175Q 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
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
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'- GAACTACAACTCCCAGCGTG -3'
(R):5'- ACTCGACTCCATTCATGCAC -3'

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