Incidental Mutation 'R3795:Cmas'
ID |
272726 |
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 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R3795 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142702468-142721440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142713594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 206
(D206E)
|
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: D206E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000032419 Gene: ENSMUSG00000030282 AA Change: D206E
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 |
probably benign
Transcript: ENSMUST00000204147
|
Meta Mutation Damage Score |
0.0618 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (32/33) |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Adh1 |
T |
A |
3: 137,985,526 (GRCm39) |
L18H |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,084,714 (GRCm39) |
T426A |
probably benign |
Het |
Capn13 |
C |
A |
17: 73,644,387 (GRCm39) |
V381L |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,778,735 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,077,590 (GRCm39) |
E1084G |
probably damaging |
Het |
Cpz |
A |
G |
5: 35,669,093 (GRCm39) |
V346A |
probably benign |
Het |
Dhrs3 |
A |
G |
4: 144,645,962 (GRCm39) |
D116G |
probably damaging |
Het |
Efcab3 |
A |
G |
11: 104,624,501 (GRCm39) |
E844G |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,759,845 (GRCm39) |
V445A |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,419,261 (GRCm39) |
N476S |
probably benign |
Het |
Lhx2 |
T |
C |
2: 38,243,359 (GRCm39) |
C12R |
probably damaging |
Het |
Map3k2 |
T |
C |
18: 32,359,701 (GRCm39) |
M518T |
probably benign |
Het |
Mrc1 |
T |
A |
2: 14,293,793 (GRCm39) |
|
probably benign |
Het |
Nlrp4e |
T |
A |
7: 23,020,228 (GRCm39) |
D238E |
probably benign |
Het |
Obscn |
A |
G |
11: 58,922,667 (GRCm39) |
Y6543H |
probably damaging |
Het |
Pigv |
A |
G |
4: 133,392,502 (GRCm39) |
S223P |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,531,382 (GRCm39) |
T464A |
probably damaging |
Het |
Polr2k |
A |
G |
15: 36,175,193 (GRCm39) |
I18V |
probably damaging |
Het |
Psg20 |
A |
G |
7: 18,418,374 (GRCm39) |
V131A |
probably benign |
Het |
Ptpro |
T |
C |
6: 137,357,307 (GRCm39) |
F266S |
probably benign |
Het |
S100a7l2 |
T |
C |
3: 90,995,730 (GRCm39) |
I57M |
possibly damaging |
Het |
Sdk2 |
G |
A |
11: 113,747,522 (GRCm39) |
R663* |
probably null |
Het |
Szt2 |
G |
T |
4: 118,248,927 (GRCm39) |
L586I |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,163,197 (GRCm39) |
I1113V |
probably damaging |
Het |
Ube2ql1 |
G |
T |
13: 69,852,231 (GRCm39) |
A282E |
possibly damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,851 (GRCm39) |
M617L |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,466 (GRCm39) |
V676A |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,532,053 (GRCm39) |
|
probably null |
Het |
Zbp1 |
T |
C |
2: 173,053,972 (GRCm39) |
H183R |
probably benign |
Het |
Zfp352 |
C |
T |
4: 90,113,386 (GRCm39) |
H509Y |
probably damaging |
Het |
Zfp988 |
G |
A |
4: 147,416,040 (GRCm39) |
R158Q |
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 |
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 |
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'- CAGATGTCTGCATTCTGAGGG -3'
(R):5'- AGTGTTCCACTGAGCAGAC -3'
Sequencing Primer
(F):5'- CTGCATTCTGAGGGGAGTTTTATTTG -3'
(R):5'- GACTACACAGACAGTTCCTGGG -3'
|
Posted On |
2015-03-25 |