Incidental Mutation 'IGL03060:Nt5c3b'
ID |
409394 |
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 # |
IGL03060
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100313147-100332634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100327045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 84
(Y84N)
|
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: Y84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090360 Gene: ENSMUSG00000017176 AA Change: Y84N
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
289 |
6.2e-126 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092689
AA Change: Y41N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090361 Gene: ENSMUSG00000017176 AA Change: Y41N
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
1 |
246 |
1.2e-123 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107397
AA Change: Y76N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103020 Gene: ENSMUSG00000017176 AA Change: Y76N
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
36 |
281 |
1.9e-123 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107398
AA Change: Y84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103021 Gene: ENSMUSG00000017176 AA Change: Y84N
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107399
AA Change: Y84N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103022 Gene: ENSMUSG00000017176 AA Change: Y84N
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: ENSMUST00000155025
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
G |
A |
19: 56,902,682 (GRCm39) |
Q720* |
probably null |
Het |
Amph |
A |
G |
13: 19,278,984 (GRCm39) |
E153G |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,985,842 (GRCm39) |
|
probably benign |
Het |
Atosa |
A |
G |
9: 74,917,450 (GRCm39) |
D683G |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,461,907 (GRCm39) |
|
probably benign |
Het |
Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
Dhrs2 |
C |
A |
14: 55,474,775 (GRCm39) |
Q137K |
probably benign |
Het |
Fam124a |
A |
G |
14: 62,843,353 (GRCm39) |
Y287C |
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gm9637 |
G |
A |
14: 19,402,173 (GRCm38) |
|
noncoding transcript |
Het |
Helz2 |
A |
G |
2: 180,871,015 (GRCm39) |
|
probably null |
Het |
Iars1 |
G |
A |
13: 49,843,923 (GRCm39) |
|
probably null |
Het |
Igll1 |
A |
T |
16: 16,680,291 (GRCm39) |
|
probably null |
Het |
Iqch |
A |
G |
9: 63,432,196 (GRCm39) |
Y361H |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,527,765 (GRCm39) |
H105Q |
probably benign |
Het |
Mapk6 |
A |
G |
9: 75,305,084 (GRCm39) |
M111T |
probably damaging |
Het |
Mrtfa |
G |
A |
15: 80,929,523 (GRCm39) |
R27W |
probably damaging |
Het |
Mt1 |
T |
A |
8: 94,906,522 (GRCm39) |
|
probably benign |
Het |
Myh7b |
A |
T |
2: 155,474,671 (GRCm39) |
D1768V |
probably damaging |
Het |
Myo6 |
A |
T |
9: 80,168,159 (GRCm39) |
Q441L |
probably benign |
Het |
Ntmt2 |
T |
C |
1: 163,544,692 (GRCm39) |
D97G |
probably damaging |
Het |
Or1e29 |
A |
G |
11: 73,667,289 (GRCm39) |
F288S |
probably damaging |
Het |
Paxx |
A |
G |
2: 25,350,196 (GRCm39) |
L137P |
probably damaging |
Het |
Ptprz1 |
T |
C |
6: 22,972,834 (GRCm39) |
V248A |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,002,149 (GRCm39) |
C1868S |
probably damaging |
Het |
Sec23a |
A |
T |
12: 59,032,891 (GRCm39) |
C403S |
probably benign |
Het |
Skint4 |
G |
A |
4: 111,975,432 (GRCm39) |
V131I |
probably benign |
Het |
Sugp2 |
T |
C |
8: 70,695,837 (GRCm39) |
V270A |
possibly damaging |
Het |
Tmed9 |
A |
G |
13: 55,743,321 (GRCm39) |
D151G |
possibly damaging |
Het |
Tubgcp4 |
A |
G |
2: 121,007,071 (GRCm39) |
|
probably benign |
Het |
Uaca |
A |
G |
9: 60,777,148 (GRCm39) |
R512G |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,676,169 (GRCm39) |
Y1999C |
possibly damaging |
Het |
Vwf |
T |
A |
6: 125,640,523 (GRCm39) |
C2320S |
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 |
|
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 |
2016-08-02 |