Incidental Mutation 'R4354:Neu4'
| ID |
327441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Neu4
|
| Ensembl Gene |
ENSMUSG00000034000 |
| Gene Name |
sialidase 4 |
| Synonyms |
|
| MMRRC Submission |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93948215-93956056 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93952279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 216
(T216I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050890]
[ENSMUST00000190212]
|
| AlphaFold |
Q8BZL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050890
AA Change: T193I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051151
Gene: ENSMUSG00000034000
AA Change: T193I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_3
|
24 |
256 |
5.8e-10 |
PFAM |
|
Pfam:BNR_2
|
34 |
270 |
2e-29 |
PFAM |
|
SCOP:d3sil__
|
371 |
448 |
4e-12 |
SMART |
|
PDB:2F13|A
|
371 |
455 |
8e-12 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190212
AA Change: T216I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140127
Gene: ENSMUSG00000034000
AA Change: T216I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BNR_3
|
47 |
279 |
1.6e-6 |
PFAM |
|
Pfam:BNR_2
|
58 |
304 |
4.6e-25 |
PFAM |
|
SCOP:d3sil__
|
394 |
471 |
4e-12 |
SMART |
|
PDB:2F29|B
|
394 |
478 |
1e-11 |
PDB |
|
| Meta Mutation Damage Score |
0.1607 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosaccharides, and gangliosides. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,143,710 (GRCm39) |
C83Y |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,991,404 (GRCm39) |
T212A |
possibly damaging |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,529,855 (GRCm39) |
L14Q |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,797,257 (GRCm39) |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 99,749,824 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
probably benign |
Het |
|
| Other mutations in Neu4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02367:Neu4
|
APN |
1 |
93,952,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03348:Neu4
|
APN |
1 |
93,952,696 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0018:Neu4
|
UTSW |
1 |
93,953,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0018:Neu4
|
UTSW |
1 |
93,953,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0645:Neu4
|
UTSW |
1 |
93,950,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0813:Neu4
|
UTSW |
1 |
93,950,598 (GRCm39) |
frame shift |
probably null |
|
|
R0814:Neu4
|
UTSW |
1 |
93,950,598 (GRCm39) |
frame shift |
probably null |
|
|
R2056:Neu4
|
UTSW |
1 |
93,950,172 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4922:Neu4
|
UTSW |
1 |
93,950,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5156:Neu4
|
UTSW |
1 |
93,952,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Neu4
|
UTSW |
1 |
93,952,669 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5447:Neu4
|
UTSW |
1 |
93,950,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Neu4
|
UTSW |
1 |
93,950,652 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6280:Neu4
|
UTSW |
1 |
93,952,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6697:Neu4
|
UTSW |
1 |
93,952,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7192:Neu4
|
UTSW |
1 |
93,952,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7533:Neu4
|
UTSW |
1 |
93,950,122 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9395:Neu4
|
UTSW |
1 |
93,950,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Neu4
|
UTSW |
1 |
93,952,972 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGATAGGCTCCTCCAGTCTGAG -3'
(R):5'- ACGTGCCTTCATCAGCACTC -3'
Sequencing Primer
(F):5'- GTCCGATATATGGAGGCAGTC -3'
(R):5'- AGAGGGCTTCGAGCATTA -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation