Incidental Mutation 'R1691:Nt5c1b'
ID |
191814 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
MMRRC Submission |
039724-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1691 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 10425537 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 360
(T360I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218327]
[ENSMUST00000218417]
[ENSMUST00000219292]
[ENSMUST00000218551]
[ENSMUST00000219826]
[ENSMUST00000218287]
[ENSMUST00000220257]
[ENSMUST00000218339]
[ENSMUST00000219049]
[ENSMUST00000220611]
[ENSMUST00000223534]
|
AlphaFold |
Q91YE9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002456
AA Change: T302I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: T302I
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 benign
Transcript: ENSMUST00000118657
AA Change: T284I
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: T284I
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 |
possibly damaging
Transcript: ENSMUST00000147323
AA Change: T302I
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622 AA Change: T302I
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 benign
Transcript: ENSMUST00000217944
AA Change: T344I
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218327
AA Change: T284I
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218417
AA Change: T344I
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219292
AA Change: T302I
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218551
AA Change: T286I
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219826
AA Change: T360I
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218287
AA Change: T360I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220257
AA Change: T360I
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: T300I
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: T191I
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: T223I
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220611
AA Change: T286I
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: T286I
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
C |
7: 82,148,814 (GRCm39) |
S283P |
probably damaging |
Het |
Adck2 |
T |
A |
6: 39,551,902 (GRCm39) |
L223* |
probably null |
Het |
Ank |
T |
C |
15: 27,591,030 (GRCm39) |
W390R |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,240,327 (GRCm39) |
Y752H |
probably damaging |
Het |
Apcs |
T |
A |
1: 172,722,160 (GRCm39) |
D62V |
probably damaging |
Het |
Atad5 |
A |
G |
11: 79,986,358 (GRCm39) |
T482A |
probably benign |
Het |
Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
Ccdc13 |
A |
T |
9: 121,654,134 (GRCm39) |
|
probably null |
Het |
Ccdc157 |
G |
A |
11: 4,099,030 (GRCm39) |
P159S |
probably benign |
Het |
Cdhr3 |
C |
T |
12: 33,132,246 (GRCm39) |
V126M |
probably damaging |
Het |
Cdr1 |
T |
C |
X: 60,227,780 (GRCm39) |
D462G |
possibly damaging |
Het |
Cisd1 |
A |
G |
10: 71,180,559 (GRCm39) |
V9A |
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,576,022 (GRCm39) |
R107G |
unknown |
Het |
Col1a2 |
C |
A |
6: 4,536,038 (GRCm39) |
H972Q |
unknown |
Het |
Col3a1 |
T |
A |
1: 45,387,776 (GRCm39) |
|
probably benign |
Het |
Dbnl |
A |
G |
11: 5,747,174 (GRCm39) |
S235G |
probably null |
Het |
Dock4 |
T |
A |
12: 40,775,754 (GRCm39) |
S566T |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,817,407 (GRCm39) |
D722G |
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,361,403 (GRCm39) |
Q97R |
probably benign |
Het |
Fat2 |
G |
A |
11: 55,202,678 (GRCm39) |
T132I |
probably damaging |
Het |
Fgd2 |
C |
T |
17: 29,597,918 (GRCm39) |
Q618* |
probably null |
Het |
Flnc |
T |
A |
6: 29,441,213 (GRCm39) |
V389E |
probably benign |
Het |
Garnl3 |
A |
T |
2: 32,887,675 (GRCm39) |
Y778* |
probably null |
Het |
Gpaa1 |
A |
T |
15: 76,216,416 (GRCm39) |
Y45F |
probably damaging |
Het |
Grid1 |
A |
T |
14: 35,174,286 (GRCm39) |
I643F |
probably damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,705,314 (GRCm39) |
D133G |
probably damaging |
Het |
Hp |
T |
C |
8: 110,302,204 (GRCm39) |
D248G |
probably benign |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ifna13 |
T |
C |
4: 88,562,291 (GRCm39) |
D111G |
probably benign |
Het |
Il9r |
T |
A |
11: 32,141,829 (GRCm39) |
Q309L |
possibly damaging |
Het |
Insyn2a |
C |
T |
7: 134,520,015 (GRCm39) |
A172T |
probably damaging |
Het |
Ints1 |
A |
T |
5: 139,754,687 (GRCm39) |
D617E |
probably damaging |
Het |
Kcnj12 |
A |
T |
11: 60,961,103 (GRCm39) |
N467I |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,669,847 (GRCm39) |
D111E |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,956,559 (GRCm39) |
K1161E |
probably benign |
Het |
Lamc1 |
C |
T |
1: 153,122,995 (GRCm39) |
D732N |
probably benign |
Het |
Larp1 |
A |
G |
11: 57,938,874 (GRCm39) |
T517A |
probably benign |
Het |
Lrp12 |
A |
G |
15: 39,735,661 (GRCm39) |
I757T |
probably damaging |
Het |
Max |
T |
C |
12: 77,000,046 (GRCm39) |
D23G |
possibly damaging |
Het |
Nars1 |
A |
T |
18: 64,649,485 (GRCm39) |
|
probably null |
Het |
Nipsnap3a |
G |
A |
4: 52,994,185 (GRCm39) |
D91N |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,880,010 (GRCm39) |
T11A |
probably benign |
Het |
Nr2c2 |
C |
A |
6: 92,133,673 (GRCm39) |
T226K |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 90,469,717 (GRCm39) |
I1288T |
probably damaging |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or10a3b |
A |
G |
7: 108,444,348 (GRCm39) |
Y290H |
possibly damaging |
Het |
Or13a21 |
A |
T |
7: 139,998,855 (GRCm39) |
L277Q |
probably damaging |
Het |
Or4e1 |
A |
T |
14: 52,701,288 (GRCm39) |
H59Q |
possibly damaging |
Het |
Or4k37 |
G |
A |
2: 111,159,198 (GRCm39) |
V145I |
probably benign |
Het |
Or6d14 |
A |
G |
6: 116,533,538 (GRCm39) |
T51A |
probably benign |
Het |
Or9i1b |
C |
T |
19: 13,896,783 (GRCm39) |
T133I |
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,280,344 (GRCm39) |
D723G |
possibly damaging |
Het |
Phrf1 |
C |
A |
7: 140,841,787 (GRCm39) |
Y715* |
probably null |
Het |
Pigm |
T |
C |
1: 172,204,354 (GRCm39) |
V30A |
probably benign |
Het |
Pkd1l2 |
A |
T |
8: 117,783,158 (GRCm39) |
F721I |
possibly damaging |
Het |
Pla2g15 |
A |
G |
8: 106,881,581 (GRCm39) |
D70G |
possibly damaging |
Het |
Prl7d1 |
A |
T |
13: 27,893,365 (GRCm39) |
I182N |
probably damaging |
Het |
Prss23 |
T |
C |
7: 89,159,922 (GRCm39) |
K49R |
probably benign |
Het |
Rps6 |
A |
T |
4: 86,775,046 (GRCm39) |
D19E |
probably benign |
Het |
Slco6d1 |
A |
T |
1: 98,435,292 (GRCm39) |
H669L |
probably benign |
Het |
Svil |
G |
T |
18: 5,056,336 (GRCm39) |
C490F |
probably benign |
Het |
Tom1 |
T |
C |
8: 75,778,227 (GRCm39) |
I103T |
probably damaging |
Het |
Trim10 |
T |
A |
17: 37,187,791 (GRCm39) |
Y336N |
probably damaging |
Het |
Trim43c |
G |
T |
9: 88,722,752 (GRCm39) |
V133F |
probably damaging |
Het |
Tvp23a |
A |
G |
16: 10,246,551 (GRCm39) |
L78P |
possibly damaging |
Het |
Ugt2b38 |
T |
A |
5: 87,571,991 (GRCm39) |
I14L |
probably benign |
Het |
Unc5a |
A |
C |
13: 55,150,737 (GRCm39) |
M520L |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,337 (GRCm39) |
M1K |
probably null |
Het |
Vmn2r58 |
C |
T |
7: 41,486,913 (GRCm39) |
G661R |
possibly damaging |
Het |
Vps41 |
A |
C |
13: 19,025,413 (GRCm39) |
D471A |
probably damaging |
Het |
Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,013,489 (GRCm39) |
F1818L |
possibly damaging |
Het |
Zp3 |
G |
A |
5: 136,009,135 (GRCm39) |
E50K |
possibly damaging |
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 |
IGL02114:Nt5c1b
|
APN |
12 |
10,425,444 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGTCCTTCTCAGCCTTACCACC -3'
(R):5'- GCTCCATTGAAGAAAGCCACGATTC -3'
Sequencing Primer
(F):5'- CAGCCTTACCACCTTAGTCC -3'
(R):5'- GCCACGATTCATAATGGCAGATTC -3'
|
Posted On |
2014-05-14 |