Incidental Mutation 'R6430:Cmas'
ID |
518478 |
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 |
044568-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R6430 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142702468-142721440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 142713650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 225
(M225K)
|
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: M225K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032419 Gene: ENSMUSG00000030282 AA Change: M225K
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (47/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
Espnl |
T |
C |
1: 91,249,970 (GRCm39) |
L39P |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
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 |
|
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'- CAGATGTCTGCATTCTGAGGGG -3'
(R):5'- GTGTTCCACTGAGCAGACTACAC -3'
Sequencing Primer
(F):5'- CTGCATTCTGAGGGGAGTTTTATTTG -3'
(R):5'- GACTACACAGACAGTTCCTGGG -3'
|
Posted On |
2018-05-24 |