Incidental Mutation 'IGL02114:Nt5c1b'
ID |
280288 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02114
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10425444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 255
(I255T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151779
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000219826]
[ENSMUST00000218551]
[ENSMUST00000218417]
[ENSMUST00000218339]
[ENSMUST00000223534]
[ENSMUST00000218327]
[ENSMUST00000220257]
[ENSMUST00000219049]
[ENSMUST00000218287]
[ENSMUST00000220611]
[ENSMUST00000219292]
|
AlphaFold |
Q91YE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002456
AA Change: I271T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: I271T
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
105 |
N/A |
INTRINSIC |
low complexity region
|
137 |
145 |
N/A |
INTRINSIC |
low complexity region
|
227 |
233 |
N/A |
INTRINSIC |
Pfam:5-nucleotidase
|
298 |
570 |
1.6e-106 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118657
AA Change: I253T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: I253T
Domain | Start | End | E-Value | Type |
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
low complexity region
|
135 |
143 |
N/A |
INTRINSIC |
low complexity region
|
225 |
231 |
N/A |
INTRINSIC |
Pfam:5-nucleotidase
|
280 |
553 |
7e-112 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143739
|
SMART Domains |
Protein: ENSMUSP00000123105 Gene: ENSMUSG00000020622
Domain | Start | End | E-Value | Type |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
low complexity region
|
195 |
203 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147323
AA Change: I271T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622 AA Change: I271T
Domain | Start | End | E-Value | Type |
low complexity region
|
93 |
105 |
N/A |
INTRINSIC |
low complexity region
|
137 |
145 |
N/A |
INTRINSIC |
low complexity region
|
227 |
233 |
N/A |
INTRINSIC |
Pfam:5-nucleotidase
|
298 |
466 |
4.8e-62 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217944
AA Change: I313T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
silent
Transcript: ENSMUST00000218026
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: I329T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218551
AA Change: I255T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218417
AA Change: I313T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218339
AA Change: I269T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223534
AA Change: I255T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218327
AA Change: I253T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220257
AA Change: I329T
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219630
AA Change: I160T
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
silent
Transcript: ENSMUST00000219049
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218287
AA Change: I329T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218288
AA Change: I192T
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: I255T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219292
AA Change: I271T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
Creb5 |
C |
T |
6: 53,581,443 (GRCm39) |
|
probably benign |
Het |
Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
Gja8 |
T |
C |
3: 96,827,341 (GRCm39) |
K107R |
probably benign |
Het |
Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
Hbp1 |
T |
C |
12: 31,980,674 (GRCm39) |
|
probably benign |
Het |
Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
Larp1 |
T |
C |
11: 57,947,881 (GRCm39) |
Y926H |
probably damaging |
Het |
Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
R3hdm2 |
T |
G |
10: 127,319,978 (GRCm39) |
M481R |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
Zfp607b |
T |
A |
7: 27,403,150 (GRCm39) |
F535L |
probably benign |
Het |
|
Other mutations in Nt5c1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01626:Nt5c1b
|
APN |
12 |
10,424,798 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01737:Nt5c1b
|
APN |
12 |
10,440,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02131:Nt5c1b
|
APN |
12 |
10,425,491 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02135:Nt5c1b
|
APN |
12 |
10,427,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02871:Nt5c1b
|
APN |
12 |
10,431,325 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03003:Nt5c1b
|
APN |
12 |
10,424,910 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL03327:Nt5c1b
|
APN |
12 |
10,424,861 (GRCm39) |
nonsense |
probably null |
|
R0838:Nt5c1b
|
UTSW |
12 |
10,425,071 (GRCm39) |
nonsense |
probably null |
|
R1340:Nt5c1b
|
UTSW |
12 |
10,427,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R1480:Nt5c1b
|
UTSW |
12 |
10,424,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1599:Nt5c1b
|
UTSW |
12 |
10,440,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R1674:Nt5c1b
|
UTSW |
12 |
10,420,055 (GRCm39) |
start gained |
probably benign |
|
R1691:Nt5c1b
|
UTSW |
12 |
10,425,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2237:Nt5c1b
|
UTSW |
12 |
10,425,558 (GRCm39) |
missense |
probably damaging |
0.96 |
R2238:Nt5c1b
|
UTSW |
12 |
10,440,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Nt5c1b
|
UTSW |
12 |
10,425,558 (GRCm39) |
missense |
probably damaging |
0.96 |
R2239:Nt5c1b
|
UTSW |
12 |
10,425,558 (GRCm39) |
missense |
probably damaging |
0.96 |
R2260:Nt5c1b
|
UTSW |
12 |
10,424,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R2424:Nt5c1b
|
UTSW |
12 |
10,420,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R3607:Nt5c1b
|
UTSW |
12 |
10,427,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R4276:Nt5c1b
|
UTSW |
12 |
10,424,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4582:Nt5c1b
|
UTSW |
12 |
10,440,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Nt5c1b
|
UTSW |
12 |
10,420,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Nt5c1b
|
UTSW |
12 |
10,425,449 (GRCm39) |
missense |
probably damaging |
1.00 |
R5840:Nt5c1b
|
UTSW |
12 |
10,427,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R5940:Nt5c1b
|
UTSW |
12 |
10,425,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R6104:Nt5c1b
|
UTSW |
12 |
10,422,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Nt5c1b
|
UTSW |
12 |
10,422,138 (GRCm39) |
nonsense |
probably null |
|
R6626:Nt5c1b
|
UTSW |
12 |
10,424,837 (GRCm39) |
nonsense |
probably null |
|
R6722:Nt5c1b
|
UTSW |
12 |
10,422,874 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7424:Nt5c1b
|
UTSW |
12 |
10,431,391 (GRCm39) |
splice site |
probably null |
|
R7491:Nt5c1b
|
UTSW |
12 |
10,424,903 (GRCm39) |
missense |
probably benign |
0.00 |
R7714:Nt5c1b
|
UTSW |
12 |
10,425,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R8008:Nt5c1b
|
UTSW |
12 |
10,425,000 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8711:Nt5c1b
|
UTSW |
12 |
10,431,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R9302:Nt5c1b
|
UTSW |
12 |
10,430,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R9661:Nt5c1b
|
UTSW |
12 |
10,425,450 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2015-04-16 |