Mutagenetix > Incidental Mutation

Incidental Mutation 'R9648:Cmas'

726868

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R9648 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142702468-142721440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142716935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 276 (L276M)

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: L276M

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: L276M

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

probably benign
Transcript: ENSMUST00000204147

Coding Region Coverage

1x: 100.0%
3x: 99.9%
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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,609,172 (GRCm39)	V798M	probably damaging	Het
Adprhl1	A	G	8: 13,273,245 (GRCm39)	L1171P	probably benign	Het
Atp2b2	C	T	6: 113,780,707 (GRCm39)		probably null	Het
Birc6	A	T	17: 74,938,696 (GRCm39)	N2701Y	probably damaging	Het
Bptf	A	T	11: 106,943,720 (GRCm39)	N2720K	probably damaging	Het
Ccpg1	T	C	9: 72,919,312 (GRCm39)	L309S	probably damaging	Het
Cep295	T	C	9: 15,234,903 (GRCm39)	N2126S	probably benign	Het
Cln5	A	G	14: 103,313,734 (GRCm39)	T329A	probably benign	Het
Cnbd1	A	C	4: 19,098,142 (GRCm39)		probably null	Het
Depdc1b	A	G	13: 108,460,444 (GRCm39)	N18S	probably damaging	Het
Dido1	C	A	2: 180,302,468 (GRCm39)	R1812I	probably damaging	Het
Dnajc2	G	A	5: 21,968,478 (GRCm39)	T403M	probably damaging	Het
Dnm1	T	A	2: 32,230,455 (GRCm39)	I120F	probably damaging	Het
Egfl6	C	T	X: 165,319,235 (GRCm39)	V379I	probably benign	Het
Foxa2	T	A	2: 147,887,799 (GRCm39)	K12M	probably damaging	Het
Fut7	T	A	2: 25,315,336 (GRCm39)	V198E	probably damaging	Het
Gramd1b	A	T	9: 40,244,793 (GRCm39)	V205E	probably damaging	Het
Gtf2i	T	A	5: 134,284,770 (GRCm39)	N510Y	probably damaging	Het
H2-M1	T	C	17: 36,982,248 (GRCm39)	I118V	probably benign	Het
Icam1	T	C	9: 20,937,697 (GRCm39)	F245L	probably damaging	Het
Ifna16	C	T	4: 88,595,060 (GRCm39)	A12T	probably benign	Het
Il12rb2	T	C	6: 67,333,587 (GRCm39)	T231A	probably benign	Het
Klrb1a	T	C	6: 128,586,816 (GRCm39)		probably null	Het
Mc3r	T	C	2: 172,091,639 (GRCm39)	L287P	probably damaging	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Msh3	A	G	13: 92,478,757 (GRCm39)	V404A	probably benign	Het
Myrf	T	A	19: 10,188,010 (GRCm39)	I896F	possibly damaging	Het
Nup205	T	A	6: 35,202,746 (GRCm39)	Y1318N	probably benign	Het
Or2t47	A	T	11: 58,442,313 (GRCm39)	Y251N	probably damaging	Het
Or7g17	T	A	9: 18,768,748 (GRCm39)	S267T	possibly damaging	Het
Osbp	T	A	19: 11,943,590 (GRCm39)	W96R	probably damaging	Het
Pcf11	A	G	7: 92,307,318 (GRCm39)	L950P	probably damaging	Het
Pcnt	T	C	10: 76,190,089 (GRCm39)	T2816A	probably benign	Het
Pde7a	A	G	3: 19,310,966 (GRCm39)	Y87H	probably damaging	Het
Pip4k2c	T	C	10: 127,041,569 (GRCm39)	H163R	probably damaging	Het
Pld1	T	A	3: 28,174,900 (GRCm39)	L846Q	probably damaging	Het
Plppr2	T	A	9: 21,852,379 (GRCm39)	S113T	probably benign	Het
Pms1	A	T	1: 53,314,284 (GRCm39)	L87Q	probably damaging	Het
Rasa1	A	G	13: 85,436,690 (GRCm39)	S113P	possibly damaging	Het
Rexo1	T	A	10: 80,385,540 (GRCm39)	H506L	probably damaging	Het
Rps12	T	C	10: 23,662,777 (GRCm39)	I6V	probably benign	Het
Rsph3a	T	C	17: 8,171,395 (GRCm39)	M170T	probably benign	Het
Rsrc2	A	G	5: 123,877,688 (GRCm39)	S156P	unknown	Het
Rtp3	T	C	9: 110,815,586 (GRCm39)	T260A	probably benign	Het
Sall2	A	G	14: 52,551,224 (GRCm39)	F657S	probably damaging	Het
Serpind1	T	A	16: 17,154,318 (GRCm39)	N48K	probably benign	Het
Slc38a11	T	A	2: 65,188,484 (GRCm39)	D95V	probably benign	Het
Slc5a4a	T	C	10: 76,002,608 (GRCm39)	C255R	probably damaging	Het
Slc6a12	C	A	6: 121,335,661 (GRCm39)	Y330*	probably null	Het
Slco1b2	T	C	6: 141,602,655 (GRCm39)	Y203H	possibly damaging	Het
Spdye4a	C	T	5: 143,210,848 (GRCm39)	R74K	probably benign	Het
Stab2	ACC	AC	10: 86,692,561 (GRCm39)		probably null	Het
Stat1	A	T	1: 52,165,695 (GRCm39)	D97V	probably damaging	Het
Stk11ip	A	G	1: 75,505,585 (GRCm39)	E418G	probably damaging	Het
Tcf20	T	C	15: 82,739,876 (GRCm39)	D525G	probably damaging	Het
Tcstv7b	C	T	13: 120,702,495 (GRCm39)	P97L	possibly damaging	Het
Tlr2	A	T	3: 83,745,840 (GRCm39)	L81Q	probably damaging	Het
Tmt1a3	C	T	15: 100,232,857 (GRCm39)	A16V	probably benign	Het
Trim50	T	A	5: 135,395,475 (GRCm39)	I277N	probably damaging	Het
Ttn	T	A	2: 76,619,806 (GRCm39)	Q15954L	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Wdr43	A	G	17: 71,960,494 (GRCm39)	K592R	probably benign	Het
Xirp2	A	G	2: 67,346,599 (GRCm39)	I2947V	probably benign	Het
Zan	A	C	5: 137,405,992 (GRCm39)	F3746V	unknown	Het
Zfp418	G	A	7: 7,185,171 (GRCm39)	S378N	probably benign	Het
Zfp518b	C	G	5: 38,830,240 (GRCm39)	Q588H	probably damaging	Het
Zfp959	G	A	17: 56,204,212 (GRCm39)	R83K	possibly damaging	Het
Znrf3	G	A	11: 5,231,915 (GRCm39)	R437C	probably damaging	Het

Other mutations in Cmas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGAGCAGTGTCTGAGTG -3'
(R):5'- TCCCTGAATCAGAATCTTGCAG -3'

Sequencing Primer
(F):5'- CAGTGTCTGAGTGGTCCACAG -3'
(R):5'- CCTGAATCAGAATCTTGCAGGTTATG -3'

Posted On

2022-10-06