Incidental Mutation 'R2472:Neu3'
| ID |
253169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neu3
|
| Ensembl Gene |
ENSMUSG00000035239 |
| Gene Name |
neuraminidase 3 |
| Synonyms |
ganglioside sialidase, membrane sialidase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R2472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99460646-99477579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99462614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 370
(S370A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036331]
|
| AlphaFold |
Q9JMH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036331
AA Change: S370A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045222
Gene: ENSMUSG00000035239
AA Change: S370A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
36 |
382 |
6.2e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased colon carcinogenesis induced by azoxymethane and dextran sodium sulfate. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
| Cbln3 |
T |
C |
14: 56,121,538 (GRCm39) |
E36G |
possibly damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,014,172 (GRCm39) |
F201L |
probably benign |
Het |
| Crispld1 |
A |
T |
1: 17,816,052 (GRCm39) |
R142S |
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,526 (GRCm39) |
M293L |
probably benign |
Het |
| Dzip3 |
A |
T |
16: 48,774,150 (GRCm39) |
S362T |
possibly damaging |
Het |
| Grm4 |
C |
T |
17: 27,653,649 (GRCm39) |
C512Y |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,621,396 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,058,632 (GRCm39) |
T252A |
probably benign |
Het |
| Nfasc |
T |
A |
1: 132,515,959 (GRCm39) |
|
probably benign |
Het |
| Or2o1 |
T |
C |
11: 49,051,198 (GRCm39) |
V119A |
possibly damaging |
Het |
| Ptk7 |
T |
C |
17: 46,887,774 (GRCm39) |
T553A |
probably benign |
Het |
| Rap2a |
T |
C |
14: 120,716,245 (GRCm39) |
I36T |
possibly damaging |
Het |
| Rinl |
A |
C |
7: 28,489,803 (GRCm39) |
D7A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,329,948 (GRCm39) |
E689G |
probably damaging |
Het |
| Sec31a |
T |
C |
5: 100,533,064 (GRCm39) |
I560M |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Setdb2 |
G |
A |
14: 59,656,903 (GRCm39) |
T138I |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,246,300 (GRCm39) |
P4Q |
possibly damaging |
Het |
| Slco4a1 |
G |
T |
2: 180,108,880 (GRCm39) |
W308L |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,611,863 (GRCm39) |
R17346S |
possibly damaging |
Het |
| Ubxn4 |
A |
G |
1: 128,200,606 (GRCm39) |
R366G |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,948,408 (GRCm39) |
N551K |
probably damaging |
Het |
|
| Other mutations in Neu3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Neu3
|
APN |
7 |
99,463,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01338:Neu3
|
APN |
7 |
99,462,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01530:Neu3
|
APN |
7 |
99,462,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:Neu3
|
UTSW |
7 |
99,462,985 (GRCm39) |
missense |
probably benign |
|
|
R0519:Neu3
|
UTSW |
7 |
99,472,524 (GRCm39) |
splice site |
probably benign |
|
|
R0555:Neu3
|
UTSW |
7 |
99,463,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1659:Neu3
|
UTSW |
7 |
99,462,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1706:Neu3
|
UTSW |
7 |
99,472,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1893:Neu3
|
UTSW |
7 |
99,472,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2271:Neu3
|
UTSW |
7 |
99,462,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Neu3
|
UTSW |
7 |
99,472,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Neu3
|
UTSW |
7 |
99,472,636 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5932:Neu3
|
UTSW |
7 |
99,462,525 (GRCm39) |
nonsense |
probably null |
|
|
R6307:Neu3
|
UTSW |
7 |
99,462,929 (GRCm39) |
missense |
probably benign |
|
|
R7072:Neu3
|
UTSW |
7 |
99,463,404 (GRCm39) |
nonsense |
probably null |
|
|
R7099:Neu3
|
UTSW |
7 |
99,463,027 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7582:Neu3
|
UTSW |
7 |
99,463,174 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8057:Neu3
|
UTSW |
7 |
99,463,435 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8497:Neu3
|
UTSW |
7 |
99,472,342 (GRCm39) |
splice site |
probably null |
|
|
X0023:Neu3
|
UTSW |
7 |
99,462,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTCCTTTCTGTGGGAAGC -3'
(R):5'- CTACTCAGAAGTGCCCTCTG -3'
Sequencing Primer
(F):5'- AAGCTGGGCCTCACTCATC -3'
(R):5'- TGCTGGACAGTCCTCTGGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation