Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Cmas'

220138

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

039995-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.904) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142702468-142721440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142716312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 251 (D251Y)

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: D251Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032419
Gene: ENSMUSG00000030282
AA Change: D251Y

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

noncoding transcript
Transcript: ENSMUST00000146643

Predicted Effect

silent
Transcript: ENSMUST00000204147

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Actn2	C	T	13: 12,293,696 (GRCm39)	R608H	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Btbd3	T	G	2: 138,125,608 (GRCm39)	L264R	probably damaging	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai1	A	G	4: 41,603,232 (GRCm39)	K172E	probably benign	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Kif11	C	T	19: 37,379,224 (GRCm39)	T305I	possibly damaging	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Or8k27	T	A	2: 86,275,420 (GRCm39)	H302L	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Terf2	T	C	8: 107,809,640 (GRCm39)	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	possibly 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
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
R9648:Cmas	UTSW	6	142,716,935 (GRCm39)	missense	probably benign	0.07

Predicted Primers

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

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

Posted On

2014-08-25