Incidental Mutation 'R7969:Nt5c3b'
ID |
650516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c3b
|
Ensembl Gene |
ENSMUSG00000017176 |
Gene Name |
5'-nucleotidase, cytosolic IIIB |
Synonyms |
2610037D24Rik, C330027I04Rik, Nt5c3l |
MMRRC Submission |
046012-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R7969 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100313147-100332634 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100325567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 120
(K120E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092688]
[ENSMUST00000092689]
[ENSMUST00000107397]
[ENSMUST00000107398]
[ENSMUST00000107399]
|
AlphaFold |
Q3UFY7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092688
AA Change: K120E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000090360 Gene: ENSMUSG00000017176 AA Change: K120E
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
289 |
6.2e-126 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092689
AA Change: K77E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000090361 Gene: ENSMUSG00000017176 AA Change: K77E
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
1 |
246 |
1.2e-123 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107397
AA Change: K112E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103020 Gene: ENSMUSG00000017176 AA Change: K112E
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
36 |
281 |
1.9e-123 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107398
AA Change: K120E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103021 Gene: ENSMUSG00000017176 AA Change: K120E
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107399
AA Change: K120E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103022 Gene: ENSMUSG00000017176 AA Change: K120E
Domain | Start | End | E-Value | Type |
Pfam:UMPH-1
|
44 |
261 |
3.5e-108 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahcyl2 |
T |
A |
6: 29,870,663 (GRCm39) |
I193N |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
Cacna1s |
T |
G |
1: 136,004,470 (GRCm39) |
F337C |
probably damaging |
Het |
Cep85l |
T |
C |
10: 53,174,280 (GRCm39) |
I488V |
probably damaging |
Het |
Cmas |
T |
A |
6: 142,720,892 (GRCm39) |
D375E |
probably damaging |
Het |
Cnga4 |
T |
C |
7: 105,055,253 (GRCm39) |
F279S |
probably damaging |
Het |
Cyp4f37 |
T |
C |
17: 32,844,181 (GRCm39) |
V95A |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,066,466 (GRCm39) |
F235S |
probably benign |
Het |
Dmxl2 |
T |
C |
9: 54,354,165 (GRCm39) |
D427G |
possibly damaging |
Het |
Efl1 |
T |
C |
7: 82,342,178 (GRCm39) |
Y529H |
probably benign |
Het |
Epx |
C |
T |
11: 87,763,547 (GRCm39) |
M224I |
probably benign |
Het |
Fetub |
A |
G |
16: 22,748,449 (GRCm39) |
R101G |
possibly damaging |
Het |
Fubp1 |
T |
A |
3: 151,927,883 (GRCm39) |
|
probably null |
Het |
Impdh2 |
C |
T |
9: 108,439,505 (GRCm39) |
R153* |
probably null |
Het |
Kcnj12 |
C |
T |
11: 60,960,430 (GRCm39) |
Q243* |
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,544,811 (GRCm39) |
V203E |
probably damaging |
Het |
Meikin |
T |
C |
11: 54,300,536 (GRCm39) |
S338P |
possibly damaging |
Het |
Myl10 |
A |
T |
5: 136,729,707 (GRCm39) |
|
probably null |
Het |
Or10al2 |
T |
A |
17: 37,983,547 (GRCm39) |
L211H |
probably damaging |
Het |
Or2h1b |
T |
A |
17: 37,462,077 (GRCm39) |
N262I |
possibly damaging |
Het |
Or6c1 |
G |
A |
10: 129,517,699 (GRCm39) |
T303I |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,716 (GRCm39) |
L313S |
probably benign |
Het |
Pdzd7 |
A |
G |
19: 45,024,664 (GRCm39) |
S452P |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,179,034 (GRCm39) |
I2982V |
probably damaging |
Het |
Ptpdc1 |
G |
A |
13: 48,740,577 (GRCm39) |
R285C |
probably damaging |
Het |
Raf1 |
T |
C |
6: 115,597,249 (GRCm39) |
D486G |
probably damaging |
Het |
Rbm27 |
A |
T |
18: 42,408,545 (GRCm39) |
|
probably benign |
Het |
Slit2 |
A |
G |
5: 48,461,378 (GRCm39) |
Y1475C |
possibly damaging |
Het |
Snx14 |
G |
A |
9: 88,295,613 (GRCm39) |
T184M |
probably damaging |
Het |
Tgm5 |
G |
T |
2: 120,905,650 (GRCm39) |
N168K |
probably damaging |
Het |
Ugt2b38 |
A |
G |
5: 87,571,891 (GRCm39) |
V47A |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,558,568 (GRCm39) |
H3599R |
probably benign |
Het |
Veph1 |
T |
C |
3: 66,122,896 (GRCm39) |
E211G |
possibly damaging |
Het |
Wapl |
T |
A |
14: 34,452,604 (GRCm39) |
H832Q |
probably damaging |
Het |
Zfp281 |
T |
A |
1: 136,553,772 (GRCm39) |
V250D |
probably benign |
Het |
Zfp36l2 |
A |
G |
17: 84,493,252 (GRCm39) |
S462P |
unknown |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCCTGGGTCAAACAGTTTTAG -3'
(R):5'- TCACCTCTTCTAAGGATGGCTC -3'
Sequencing Primer
(F):5'- TTGTATTTCAATGCCAAGGACGG -3'
(R):5'- CTCTAAGTTTTTCAGGAGATGGCTC -3'
|
Posted On |
2020-09-15 |