Incidental Mutation 'IGL03331:Nt5c3b'
| ID |
416864 |
| 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: 0.114)
|
| Stock # |
IGL03331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100313147-100332634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100327041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 85
(Y85C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092688]
[ENSMUST00000092689]
[ENSMUST00000107397]
[ENSMUST00000107398]
[ENSMUST00000107399]
|
| AlphaFold |
Q3UFY7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092688
AA Change: Y85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090360
Gene: ENSMUSG00000017176
AA Change: Y85C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
44 |
289 |
6.2e-126 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092689
AA Change: Y42C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090361
Gene: ENSMUSG00000017176
AA Change: Y42C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
1 |
246 |
1.2e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107397
AA Change: Y77C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103020
Gene: ENSMUSG00000017176
AA Change: Y77C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
36 |
281 |
1.9e-123 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107398
AA Change: Y85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176
AA Change: Y85C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107399
AA Change: Y85C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176
AA Change: Y85C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135557
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154692
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
| C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
| Chst15 |
A |
G |
7: 131,864,442 (GRCm39) |
L387P |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
| Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
| Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
| Gna14 |
G |
A |
19: 16,586,832 (GRCm39) |
V336M |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
| Lman1 |
T |
C |
18: 66,126,275 (GRCm39) |
T284A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
| Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,969,504 (GRCm39) |
|
probably benign |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
C |
12: 103,657,150 (GRCm39) |
I307M |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,887,349 (GRCm39) |
Q59K |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
Het |
|
| Other mutations in Nt5c3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Nt5c3b
|
APN |
11 |
100,323,735 (GRCm39) |
splice site |
probably benign |
|
|
IGL03060:Nt5c3b
|
APN |
11 |
100,327,045 (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 |
2016-08-02 |
Incidental Mutation