Incidental Mutation 'IGL01149:Neu3'
| ID |
51671 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99460646-99477579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99463087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 212
(H212R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036331]
|
| AlphaFold |
Q9JMH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036331
AA Change: H212R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000045222
Gene: ENSMUSG00000035239
AA Change: H212R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_2
|
36 |
382 |
6.2e-40 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,400,349 (GRCm39) |
D143G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,308 (GRCm39) |
F386S |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,446 (GRCm39) |
S224P |
probably damaging |
Het |
| Or4q3 |
G |
T |
14: 50,583,071 (GRCm39) |
A276E |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slc7a6 |
T |
C |
8: 106,906,232 (GRCm39) |
S155P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,264 (GRCm39) |
D324G |
probably null |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
probably damaging |
Het |
|
| Other mutations in Neu3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2472:Neu3
|
UTSW |
7 |
99,462,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation