Incidental Mutation 'R6824:Cmas'
ID |
534050 |
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 |
044936-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.904)
|
Stock # |
R6824 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142702468-142721440 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 142716962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 285
(T285A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032419]
[ENSMUST00000133248]
[ENSMUST00000144920]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032419
AA Change: T285A
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032419 Gene: ENSMUSG00000030282 AA Change: T285A
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck2 |
A |
G |
6: 39,552,058 (GRCm39) |
D275G |
probably benign |
Het |
Cdh4 |
G |
A |
2: 179,439,351 (GRCm39) |
R166H |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,691,510 (GRCm39) |
K1051E |
probably damaging |
Het |
Chn2 |
A |
T |
6: 54,249,938 (GRCm39) |
M16L |
probably benign |
Het |
Cnga4 |
A |
T |
7: 105,056,036 (GRCm39) |
M213L |
probably benign |
Het |
Ctif |
C |
T |
18: 75,654,782 (GRCm39) |
R248Q |
probably damaging |
Het |
Cyth3 |
T |
C |
5: 143,672,265 (GRCm39) |
I60T |
probably damaging |
Het |
Dach1 |
A |
G |
14: 98,256,328 (GRCm39) |
I310T |
possibly damaging |
Het |
Defb6 |
T |
C |
8: 19,278,099 (GRCm39) |
I57T |
probably benign |
Het |
Dnajc27 |
T |
C |
12: 4,156,897 (GRCm39) |
V262A |
possibly damaging |
Het |
Emsy |
G |
A |
7: 98,242,614 (GRCm39) |
T1175M |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,011,674 (GRCm39) |
V2258E |
probably benign |
Het |
Gm136 |
G |
A |
4: 34,746,591 (GRCm39) |
T140I |
probably benign |
Het |
Gps1 |
T |
C |
11: 120,678,254 (GRCm39) |
F265S |
probably damaging |
Het |
Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
Hnrnpul2 |
T |
C |
19: 8,804,081 (GRCm39) |
V560A |
possibly damaging |
Het |
Kmt2b |
A |
G |
7: 30,285,701 (GRCm39) |
|
probably benign |
Het |
Krt8 |
T |
C |
15: 101,906,875 (GRCm39) |
N317S |
possibly damaging |
Het |
Lad1 |
A |
G |
1: 135,755,479 (GRCm39) |
T252A |
probably benign |
Het |
Maml2 |
G |
A |
9: 13,608,513 (GRCm39) |
S743N |
possibly damaging |
Het |
Mrpl9 |
C |
A |
3: 94,350,677 (GRCm39) |
P7H |
possibly damaging |
Het |
Myb |
T |
A |
10: 21,021,019 (GRCm39) |
H470L |
probably benign |
Het |
Nicol1 |
T |
C |
5: 34,141,069 (GRCm39) |
|
probably benign |
Het |
Nr1i3 |
T |
C |
1: 171,042,542 (GRCm39) |
I56T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,900,622 (GRCm39) |
Y338C |
probably damaging |
Het |
Or13n4 |
A |
G |
7: 106,423,664 (GRCm39) |
V23A |
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,638,752 (GRCm39) |
M426K |
probably benign |
Het |
Pde6d |
T |
C |
1: 86,473,485 (GRCm39) |
T104A |
possibly damaging |
Het |
Ptprz1 |
A |
T |
6: 23,002,130 (GRCm39) |
T1407S |
probably benign |
Het |
Recql5 |
C |
T |
11: 115,814,038 (GRCm39) |
R369Q |
possibly damaging |
Het |
Rnf180 |
T |
A |
13: 105,318,023 (GRCm39) |
D463V |
probably damaging |
Het |
Sart3 |
C |
T |
5: 113,882,600 (GRCm39) |
|
probably null |
Het |
Sdk2 |
T |
C |
11: 113,758,760 (GRCm39) |
D488G |
probably benign |
Het |
Slc9a9 |
C |
T |
9: 95,109,251 (GRCm39) |
P538S |
probably damaging |
Het |
Snap29 |
A |
G |
16: 17,240,370 (GRCm39) |
K159E |
probably benign |
Het |
Spaca1 |
A |
G |
4: 34,049,869 (GRCm39) |
V43A |
probably benign |
Het |
Stk10 |
T |
C |
11: 32,537,363 (GRCm39) |
S191P |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,414,245 (GRCm39) |
H73R |
probably benign |
Het |
Tcerg1l |
A |
G |
7: 137,995,844 (GRCm39) |
|
probably null |
Het |
Tmem67 |
T |
C |
4: 12,051,449 (GRCm39) |
Y793C |
probably damaging |
Het |
Ttll12 |
A |
T |
15: 83,475,578 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
G |
T |
7: 41,949,403 (GRCm39) |
V608L |
probably benign |
Het |
Xpo4 |
A |
T |
14: 57,850,860 (GRCm39) |
I348N |
probably damaging |
Het |
Zfp941 |
G |
A |
7: 140,392,612 (GRCm39) |
T249M |
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 |
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'- AGTGTCTGAGTGGTCCACAG -3'
(R):5'- ATCTCTTAAGTGCTGGAGTGC -3'
Sequencing Primer
(F):5'- CTCAGAGCAGTGTCTGAGTGAC -3'
(R):5'- GAGTGCTCCCTGAATCAGAATCTTG -3'
|
Posted On |
2018-09-12 |