Incidental Mutation 'R8363:Cmas'
ID |
646053 |
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 |
067654-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R8363 (G1)
|
Quality Score |
185.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
142702468-142721440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 142702554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 19
(P19L)
|
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: P19L
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000032419 Gene: ENSMUSG00000030282 AA Change: P19L
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 |
possibly damaging
Transcript: ENSMUST00000133248
AA Change: P19L
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144875 Gene: ENSMUSG00000030282 AA Change: P19L
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 |
possibly damaging
Transcript: ENSMUST00000144920
AA Change: P19L
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000145392 Gene: ENSMUSG00000030282 AA Change: P19L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,055,800 (GRCm39) |
I375L |
|
Het |
Adamts18 |
C |
T |
8: 114,493,795 (GRCm39) |
G448D |
probably damaging |
Het |
Bzw2 |
A |
G |
12: 36,180,122 (GRCm39) |
V35A |
probably benign |
Het |
C2cd4d |
C |
T |
3: 94,271,157 (GRCm39) |
T141M |
probably benign |
Het |
Chchd4 |
T |
A |
6: 91,444,737 (GRCm39) |
K17* |
probably null |
Het |
Colec10 |
A |
G |
15: 54,274,238 (GRCm39) |
H22R |
probably benign |
Het |
D630045J12Rik |
T |
C |
6: 38,125,376 (GRCm39) |
D1546G |
probably damaging |
Het |
Dgki |
A |
T |
6: 36,993,613 (GRCm39) |
C583S |
probably damaging |
Het |
Dhrs13 |
G |
T |
11: 77,925,343 (GRCm39) |
V205L |
probably damaging |
Het |
Eif4a3l1 |
T |
G |
6: 136,306,453 (GRCm39) |
S305A |
probably benign |
Het |
Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
Erc1 |
T |
C |
6: 119,730,260 (GRCm39) |
D612G |
probably benign |
Het |
Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
Gm5160 |
T |
C |
18: 14,557,929 (GRCm39) |
V2A |
possibly damaging |
Het |
Gm8247 |
A |
T |
14: 44,823,919 (GRCm39) |
I202F |
|
Het |
Gnpat |
T |
C |
8: 125,590,038 (GRCm39) |
V21A |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,891,625 (GRCm39) |
S2297T |
probably benign |
Het |
Igkv13-85 |
A |
G |
6: 68,907,269 (GRCm39) |
Y111H |
probably damaging |
Het |
Il17rd |
A |
G |
14: 26,813,906 (GRCm39) |
N206D |
probably damaging |
Het |
Il1r2 |
G |
A |
1: 40,160,095 (GRCm39) |
V272M |
probably damaging |
Het |
Ivl |
T |
A |
3: 92,479,525 (GRCm39) |
H180L |
possibly damaging |
Het |
Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
Kirrel2 |
A |
G |
7: 30,152,968 (GRCm39) |
V350A |
probably damaging |
Het |
Mcpt4 |
A |
G |
14: 56,299,692 (GRCm39) |
S14P |
probably damaging |
Het |
Mdm2 |
A |
G |
10: 117,526,239 (GRCm39) |
V449A |
probably damaging |
Het |
Mga |
T |
C |
2: 119,794,407 (GRCm39) |
V2697A |
probably benign |
Het |
Mlxipl |
T |
C |
5: 135,135,930 (GRCm39) |
F52L |
probably benign |
Het |
Mtarc2 |
A |
G |
1: 184,566,055 (GRCm39) |
|
probably null |
Het |
Ndst3 |
T |
C |
3: 123,350,517 (GRCm39) |
S623G |
possibly damaging |
Het |
Oas1a |
C |
T |
5: 121,043,902 (GRCm39) |
A77T |
probably damaging |
Het |
Or4d1 |
A |
T |
11: 87,805,069 (GRCm39) |
I221N |
probably damaging |
Het |
Or9a2 |
T |
C |
6: 41,748,684 (GRCm39) |
Q183R |
probably benign |
Het |
P3h2 |
A |
G |
16: 25,811,468 (GRCm39) |
F252L |
probably damaging |
Het |
Psme4 |
A |
G |
11: 30,762,139 (GRCm39) |
D493G |
probably damaging |
Het |
Rab3ip |
A |
C |
10: 116,754,869 (GRCm39) |
I229S |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,268,119 (GRCm39) |
L74P |
probably damaging |
Het |
Scn1a |
G |
T |
2: 66,152,601 (GRCm39) |
N804K |
probably damaging |
Het |
Slc22a6 |
A |
T |
19: 8,596,386 (GRCm39) |
H124L |
probably benign |
Het |
Slc6a6 |
A |
G |
6: 91,727,277 (GRCm39) |
I492V |
probably benign |
Het |
Snx2 |
G |
T |
18: 53,330,936 (GRCm39) |
E134* |
probably null |
Het |
Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
Tcp11 |
A |
G |
17: 28,288,221 (GRCm39) |
S415P |
possibly damaging |
Het |
Vmn2r67 |
A |
T |
7: 84,804,969 (GRCm39) |
S48T |
probably benign |
Het |
Vps16 |
T |
A |
2: 130,284,161 (GRCm39) |
F665L |
probably benign |
Het |
Wdhd1 |
A |
T |
14: 47,513,989 (GRCm39) |
D22E |
probably damaging |
Het |
Zng1 |
A |
T |
19: 24,920,091 (GRCm39) |
H175Q |
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 |
|
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 |
|
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'- GAACTACAACTCCCAGCGTG -3'
(R):5'- ACTCGACTCCATTCATGCAC -3'
Sequencing Primer
(F):5'- CTCCCGGATGTGGAGAC -3'
(R):5'- ATGCGCACCTCTGGAAGAC -3'
|
Posted On |
2020-09-02 |