Mutagenetix > Incidental Mutation

Incidental Mutation 'R7256:Cmas'

564266

Institutional Source

Beutler Lab

Gene Symbol

Cmas

Ensembl Gene

ENSMUSG00000030282

Gene Name

cytidine monophospho-N-acetylneuraminic acid synthetase

Synonyms

CMP-Neu5Ac synthase, CMP-sialic acid synthetase, D6Bwg0250e

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R7256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142756686-142775714 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142770586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 251 (D251N)

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: D251N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: D251N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	11	25	N/A	INTRINSIC
Pfam:CTP_transf_3	44	85	2.8e-13	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000204147

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,863,035	Y790H	probably damaging	Het
Bend3	A	C	10: 43,493,671	S7R	probably benign	Het
Ccdc106	A	G	7: 5,060,326	T277A	probably damaging	Het
Ccdc162	G	A	10: 41,556,001	A1832V	probably damaging	Het
Ccser1	A	G	6: 61,311,867	E338G	probably benign	Het
Cd86	CA	CAA	16: 36,606,555		probably null	Het
Cecr2	T	C	6: 120,762,529	S1406P	probably benign	Het
Cep290	A	G	10: 100,546,498	T208A	probably damaging	Het
Cep85l	A	C	10: 53,296,255	C569W	probably damaging	Het
Ces5a	G	A	8: 93,499,526	T527I	probably benign	Het
Clca2	T	A	3: 145,090,847	I200F	probably damaging	Het
Ctcfl	G	T	2: 173,118,475	A105E	probably benign	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dctn6	A	T	8: 34,090,808	I170N	probably damaging	Het
Dnah2	T	C	11: 69,431,094	Y3800C	probably damaging	Het
Dsg2	G	A	18: 20,591,931	V465I	possibly damaging	Het
Dzip1	T	C	14: 118,885,646	T646A	probably benign	Het
Etv4	T	A	11: 101,784,325		probably null	Het
Exoc3l2	T	C	7: 19,484,703	V549A	unknown	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
Fry	T	G	5: 150,466,786	I179S		Het
Galntl5	A	G	5: 25,195,300	H109R	probably benign	Het
Garem1	C	A	18: 21,148,754	G182W	probably damaging	Het
Gm10696	T	C	3: 94,176,360	E48G	probably benign	Het
Gm13078	T	A	4: 143,726,279	D93E	probably benign	Het
Gm5916	A	T	9: 36,120,989	Y50N	possibly damaging	Het
Gtf2h2	A	T	13: 100,479,201	F271I	probably benign	Het
Hivep2	G	T	10: 14,129,101	S481I	probably benign	Het
Homez	T	A	14: 54,857,420	Q277L	probably damaging	Het
Hoxb4	C	A	11: 96,319,896		probably null	Het
Igll1	A	G	16: 16,861,093	S118P	probably damaging	Het
Ikzf2	A	C	1: 69,578,053		probably null	Het
Kif5b	A	G	18: 6,225,340	V230A	probably damaging	Het
Ldlr	T	A	9: 21,745,744	V719E	probably benign	Het
Lsm7	G	A	10: 80,853,731	R66W	possibly damaging	Het
Map3k13	T	A	16: 21,892,238	D90E	probably benign	Het
Mmrn1	A	G	6: 60,976,114	K460E	probably damaging	Het
Myh10	A	C	11: 68,790,689	N1061H	probably damaging	Het
Nepn	A	G	10: 52,400,993	Q275R	probably benign	Het
Noc3l	A	T	19: 38,812,356	D227E	probably benign	Het
Nploc4	G	T	11: 120,428,550	S61R	probably benign	Het
Nr4a2	T	C	2: 57,112,369	Y24C	probably damaging	Het
Nup160	T	A	2: 90,723,355	I1143N	probably damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr1234	A	T	2: 89,362,494	Y312N	probably benign	Het
Olfr294	G	T	7: 86,615,665	H327N	probably benign	Het
Olfr895	T	A	9: 38,268,708	M57K	probably damaging	Het
Papola	T	A	12: 105,809,345	C204S	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pgap1	A	T	1: 54,493,207		probably null	Het
Pitrm1	A	G	13: 6,556,597	H229R	probably damaging	Het
Plcl1	A	G	1: 55,698,218	Q906R	probably benign	Het
Ppfia3	T	C	7: 45,341,743	N1018S	probably benign	Het
Prkd1	A	G	12: 50,388,342	V534A	possibly damaging	Het
Pygm	A	T	19: 6,385,896	I126F	probably benign	Het
Rag1	T	C	2: 101,642,070	Y909C	probably damaging	Het
Rasgrf2	G	A	13: 91,884,518	Q560*	probably null	Het
Rbp3	A	T	14: 33,962,583	I1190F	possibly damaging	Het
Reln	T	C	5: 21,978,923	K1693E	probably benign	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Rsph3a	A	G	17: 7,946,170	T121A	probably benign	Het
Rufy3	A	G	5: 88,614,947	N112S	possibly damaging	Het
Ryr3	G	A	2: 112,672,246	Q3548*	probably null	Het
Sardh	A	T	2: 27,218,812	V637D	probably benign	Het
Spata16	T	C	3: 26,667,867	V179A	probably benign	Het
Tbc1d30	G	A	10: 121,288,965	T319I	probably damaging	Het
Tlr2	T	A	3: 83,837,606	Q390L	possibly damaging	Het
Tmem53	C	T	4: 117,252,040		probably null	Het
Vmn1r113	T	A	7: 20,787,445	I54N	probably damaging	Het
Vmn1r223	A	C	13: 23,249,866	Y210S	probably damaging	Het
Zbbx	A	T	3: 75,039,898	H670Q	probably benign	Het

Other mutations in Cmas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0558:Cmas	UTSW	6	142775244	nonsense	probably null
R0798:Cmas	UTSW	6	142764656	missense	probably damaging	1.00
R1172:Cmas	UTSW	6	142756878	missense	probably benign	0.01
R1453:Cmas	UTSW	6	142772127	missense	probably damaging	1.00
R1983:Cmas	UTSW	6	142770586	missense	probably damaging	0.98
R2147:Cmas	UTSW	6	142771289	missense	probably benign	0.18
R3795:Cmas	UTSW	6	142767868	missense	probably benign	0.03
R4378:Cmas	UTSW	6	142772285	unclassified	probably benign
R4768:Cmas	UTSW	6	142764431	critical splice donor site	probably null
R6430:Cmas	UTSW	6	142767924	missense	probably benign
R6774:Cmas	UTSW	6	142764421	missense	possibly damaging	0.81
R6824:Cmas	UTSW	6	142771236	missense	possibly damaging	0.90
R6980:Cmas	UTSW	6	142756800	missense	probably damaging	0.97
R7776:Cmas	UTSW	6	142764557	missense	probably damaging	0.99
R7969:Cmas	UTSW	6	142775166	missense	probably damaging	1.00
R8325:Cmas	UTSW	6	142771339	critical splice donor site	probably null
R8363:Cmas	UTSW	6	142756828	missense	probably benign	0.08
R8489:Cmas	UTSW	6	142756870	missense	probably benign	0.00
R8720:Cmas	UTSW	6	142771203	missense	probably damaging	1.00
R8747:Cmas	UTSW	6	142771201	missense	possibly damaging	0.92
R9056:Cmas	UTSW	6	142764379	missense	probably damaging	1.00
R9648:Cmas	UTSW	6	142771209	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CTGCGCGGTAGACAGAATTC -3'
(R):5'- AGTGTTCTATATGCACACCTCC -3'

Sequencing Primer
(F):5'- GGTAGACAGAATTCAGAACTCACTTG -3'
(R):5'- TCCCCCATTCAAGGAAACTGAG -3'

Posted On

2019-06-26