Incidental Mutation 'IGL00674:Nt5c3b'
| ID |
12792 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nt5c3b
|
| Ensembl Gene |
ENSMUSG00000017176 |
| Gene Name |
5'-nucleotidase, cytosolic IIIB |
| Synonyms |
2610037D24Rik, C330027I04Rik, Nt5c3l |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL00674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100313147-100332634 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 100323735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092688]
[ENSMUST00000092689]
[ENSMUST00000107397]
[ENSMUST00000107398]
[ENSMUST00000107399]
|
| AlphaFold |
Q3UFY7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092688
|
| SMART Domains |
Protein: ENSMUSP00000090360
Gene: ENSMUSG00000017176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
44 |
289 |
6.2e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092689
|
| SMART Domains |
Protein: ENSMUSP00000090361
Gene: ENSMUSG00000017176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
1 |
246 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107397
|
| SMART Domains |
Protein: ENSMUSP00000103020
Gene: ENSMUSG00000017176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
36 |
281 |
1.9e-123 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107398
|
| SMART Domains |
Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107399
|
| SMART Domains |
Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140381
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atad2 |
T |
A |
15: 57,971,782 (GRCm39) |
Q365L |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,119,676 (GRCm39) |
N492K |
probably benign |
Het |
| Fam114a1 |
T |
A |
5: 65,137,347 (GRCm39) |
S97T |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,233,658 (GRCm39) |
M324I |
possibly damaging |
Het |
| Gpx6 |
A |
G |
13: 21,497,978 (GRCm39) |
|
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,329,949 (GRCm39) |
T108A |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,899,773 (GRCm39) |
I26T |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,303 (GRCm39) |
G454S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,893,041 (GRCm39) |
F91L |
probably benign |
Het |
| Osbpl2 |
T |
C |
2: 179,792,051 (GRCm39) |
Y252H |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,115,159 (GRCm39) |
N626D |
probably damaging |
Het |
| Pbrm1 |
C |
T |
14: 30,840,733 (GRCm39) |
P1612S |
probably damaging |
Het |
| Prl3d3 |
T |
C |
13: 27,343,114 (GRCm39) |
|
probably null |
Het |
| Sall4 |
T |
C |
2: 168,597,700 (GRCm39) |
D380G |
probably damaging |
Het |
| Sema3b |
A |
C |
9: 107,481,240 (GRCm39) |
|
probably null |
Het |
| Spred1 |
C |
T |
2: 117,008,339 (GRCm39) |
P415L |
probably damaging |
Het |
| Tnc |
T |
A |
4: 63,883,844 (GRCm39) |
D1958V |
probably damaging |
Het |
| Tnfsf15 |
A |
G |
4: 63,652,483 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,229,876 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nt5c3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03060:Nt5c3b
|
APN |
11 |
100,327,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Nt5c3b
|
APN |
11 |
100,327,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Nt5c3b
|
UTSW |
11 |
100,327,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1678:Nt5c3b
|
UTSW |
11 |
100,327,036 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1686:Nt5c3b
|
UTSW |
11 |
100,330,920 (GRCm39) |
splice site |
probably benign |
|
|
R2042:Nt5c3b
|
UTSW |
11 |
100,327,020 (GRCm39) |
missense |
probably benign |
|
|
R4580:Nt5c3b
|
UTSW |
11 |
100,323,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Nt5c3b
|
UTSW |
11 |
100,323,744 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4735:Nt5c3b
|
UTSW |
11 |
100,331,732 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5328:Nt5c3b
|
UTSW |
11 |
100,331,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Nt5c3b
|
UTSW |
11 |
100,323,883 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6176:Nt5c3b
|
UTSW |
11 |
100,330,974 (GRCm39) |
intron |
probably benign |
|
|
R6966:Nt5c3b
|
UTSW |
11 |
100,320,750 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7969:Nt5c3b
|
UTSW |
11 |
100,325,567 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9696:Nt5c3b
|
UTSW |
11 |
100,323,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Nt5c3b
|
UTSW |
11 |
100,327,012 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Nt5c3b
|
UTSW |
11 |
100,326,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation