Incidental Mutation 'R0798:Cmas'
ID |
76485 |
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 |
038978-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R0798 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142702468-142721440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142710382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
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: V167A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032419 Gene: ENSMUSG00000030282 AA Change: V167A
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
|
Meta Mutation Damage Score |
0.4937 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (30/30) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
4930579C12Rik |
T |
A |
9: 89,034,880 (GRCm39) |
|
noncoding transcript |
Het |
Baz2a |
T |
A |
10: 127,962,192 (GRCm39) |
|
probably benign |
Het |
Bcar3 |
T |
C |
3: 122,318,948 (GRCm39) |
V695A |
probably benign |
Het |
C130074G19Rik |
G |
A |
1: 184,614,873 (GRCm39) |
|
probably benign |
Het |
Crppa |
G |
A |
12: 36,571,998 (GRCm39) |
R302H |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,343 (GRCm39) |
E234G |
probably damaging |
Het |
Gopc |
C |
T |
10: 52,234,907 (GRCm39) |
G79S |
probably damaging |
Het |
Herc2 |
T |
A |
7: 55,785,431 (GRCm39) |
|
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kcnq5 |
A |
G |
1: 22,031,399 (GRCm39) |
|
probably null |
Het |
Lpp |
G |
T |
16: 24,790,622 (GRCm39) |
G29* |
probably null |
Het |
Ly6g6e |
T |
C |
17: 35,297,017 (GRCm39) |
F86S |
probably benign |
Het |
Myo5c |
T |
C |
9: 75,165,266 (GRCm39) |
F358S |
probably damaging |
Het |
Nlgn1 |
A |
G |
3: 25,488,410 (GRCm39) |
Y613H |
probably benign |
Het |
Or4k38 |
T |
C |
2: 111,165,689 (GRCm39) |
I245V |
probably benign |
Het |
Or7e178 |
A |
T |
9: 20,225,495 (GRCm39) |
Y232* |
probably null |
Het |
Plekhn1 |
T |
A |
4: 156,312,720 (GRCm39) |
D46V |
probably damaging |
Het |
Ptp4a1 |
A |
T |
1: 30,984,005 (GRCm39) |
|
probably benign |
Het |
Rab23 |
A |
T |
1: 33,773,908 (GRCm39) |
I123F |
probably damaging |
Het |
Samd4b |
G |
A |
7: 28,101,048 (GRCm39) |
|
probably benign |
Het |
Shisa4 |
G |
A |
1: 135,300,886 (GRCm39) |
|
probably benign |
Het |
Slc39a11 |
C |
T |
11: 113,414,330 (GRCm39) |
A90T |
probably benign |
Het |
Tas1r2 |
T |
C |
4: 139,397,024 (GRCm39) |
Y788H |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,198,593 (GRCm39) |
F1308L |
probably damaging |
Het |
Tial1 |
C |
T |
7: 128,045,602 (GRCm39) |
M327I |
probably benign |
Het |
Ubr2 |
C |
T |
17: 47,280,102 (GRCm39) |
|
probably benign |
Het |
Utp4 |
T |
C |
8: 107,648,858 (GRCm39) |
S630P |
probably benign |
Het |
Vmn1r212 |
T |
C |
13: 23,067,868 (GRCm39) |
N155S |
probably damaging |
Het |
Zmym6 |
C |
T |
4: 126,997,316 (GRCm39) |
P312S |
probably benign |
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 |
|
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 |
R9648:Cmas
|
UTSW |
6 |
142,716,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCTACCTCACTAGACGCCATTG -3'
(R):5'- GGAATATCCTGTCACTGCCTACTGC -3'
Sequencing Primer
(F):5'- GACGCCATTGTAGAATTCCTG -3'
(R):5'- TACCCCAAGCACTGTCAGT -3'
|
Posted On |
2013-10-16 |