Incidental Mutation 'R1192:Nans'
| ID |
100868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nans
|
| Ensembl Gene |
ENSMUSG00000028334 |
| Gene Name |
N-acetylneuraminic acid synthase (sialic acid synthase) |
| Synonyms |
4632418E04Rik, N-acetylneuraminic acid phosphate synthase, Sas |
| MMRRC Submission |
039264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.849)
|
| Stock # |
R1192 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
46489319-46503439 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 46502430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030018]
[ENSMUST00000046897]
[ENSMUST00000184112]
|
| AlphaFold |
Q99J77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030018
|
| SMART Domains |
Protein: ENSMUSP00000030018
Gene: ENSMUSG00000028334
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NeuB
|
39 |
278 |
4.7e-81 |
PFAM |
|
SAF
|
292 |
351 |
2.38e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046897
|
| SMART Domains |
Protein: ENSMUSP00000038719
Gene: ENSMUSG00000039853
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
PRY
|
264 |
316 |
2.63e-13 |
SMART |
|
SPRY
|
317 |
440 |
2.48e-24 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137874
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150584
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184112
|
| SMART Domains |
Protein: ENSMUSP00000138876
Gene: ENSMUSG00000039853
| Domain | Start | End | E-Value | Type |
|---|
|
BBOX
|
17 |
59 |
1.84e-8 |
SMART |
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
| 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 functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,773,289 (GRCm39) |
I50L |
probably benign |
Het |
| Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
| Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
| Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
| Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
| Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
| Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
| Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
| Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
| Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
| Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
| Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
| Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
| Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
| Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
| Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
| Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
| Other mutations in Nans |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1016:Nans
|
UTSW |
4 |
46,500,716 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1493:Nans
|
UTSW |
4 |
46,500,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Nans
|
UTSW |
4 |
46,500,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Nans
|
UTSW |
4 |
46,492,839 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4980:Nans
|
UTSW |
4 |
46,492,764 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5212:Nans
|
UTSW |
4 |
46,502,547 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5723:Nans
|
UTSW |
4 |
46,499,083 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5854:Nans
|
UTSW |
4 |
46,500,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Nans
|
UTSW |
4 |
46,489,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7474:Nans
|
UTSW |
4 |
46,502,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Nans
|
UTSW |
4 |
46,492,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9784:Nans
|
UTSW |
4 |
46,499,129 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGCACCTTTTAACAGGGAAAC -3'
(R):5'- CGGATTCTTCCATGACCGTGTCATC -3'
Sequencing Primer
(F):5'- CCAATATGCTGGCTTACTGGAAAG -3'
(R):5'- GTCATCTTCTTCGATAGTGACCAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation