Incidental Mutation 'R2260:Nt5c1b'
ID |
243745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
MMRRC Submission |
040260-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2260 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10424965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 170
(R170S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152344
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218417]
[ENSMUST00000218551]
[ENSMUST00000218287]
[ENSMUST00000219049]
[ENSMUST00000220611]
[ENSMUST00000219826]
[ENSMUST00000219292]
[ENSMUST00000218339]
[ENSMUST00000223534]
[ENSMUST00000218327]
[ENSMUST00000220257]
|
AlphaFold |
Q91YE9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002456
AA Change: R170S
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: R170S
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 |
possibly damaging
Transcript: ENSMUST00000118657
AA Change: R168S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: R168S
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 |
unknown
Transcript: ENSMUST00000143739
AA Change: R170S
|
SMART Domains |
Protein: ENSMUSP00000123105 Gene: ENSMUSG00000020622 AA Change: R170S
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: R170S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622 AA Change: R170S
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 |
possibly damaging
Transcript: ENSMUST00000217944
AA Change: R228S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218026
AA Change: R170S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218417
AA Change: R228S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218551
AA Change: R170S
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218287
AA Change: R228S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: R115S
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219049
AA Change: R170S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: R170S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: R228S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: R59S
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219292
AA Change: R170S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218339
AA Change: R168S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223534
AA Change: R170S
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218327
AA Change: R168S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220257
AA Change: R228S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,354,978 (GRCm39) |
N1252I |
probably damaging |
Het |
Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,716,493 (GRCm39) |
V840E |
probably damaging |
Het |
Adnp2 |
A |
T |
18: 80,171,664 (GRCm39) |
M915K |
probably benign |
Het |
Cd101 |
G |
C |
3: 100,924,261 (GRCm39) |
L393V |
possibly damaging |
Het |
Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
Cdc37l1 |
A |
T |
19: 28,984,448 (GRCm39) |
K194N |
probably benign |
Het |
Cep126 |
T |
C |
9: 8,101,749 (GRCm39) |
T262A |
possibly damaging |
Het |
Chit1 |
A |
G |
1: 134,078,865 (GRCm39) |
S392G |
probably benign |
Het |
Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
Dusp12 |
C |
T |
1: 170,708,580 (GRCm39) |
R120H |
probably damaging |
Het |
Eln |
C |
A |
5: 134,758,508 (GRCm39) |
A126S |
unknown |
Het |
Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
Fkbp6 |
C |
T |
5: 135,366,468 (GRCm39) |
|
probably null |
Het |
Ftcd |
T |
A |
10: 76,423,893 (GRCm39) |
|
probably null |
Het |
Gdf10 |
T |
C |
14: 33,654,234 (GRCm39) |
L247P |
probably damaging |
Het |
Gigyf1 |
C |
A |
5: 137,518,594 (GRCm39) |
A215E |
possibly damaging |
Het |
Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
Hrc |
C |
A |
7: 44,986,105 (GRCm39) |
R419S |
possibly damaging |
Het |
Itfg1 |
C |
T |
8: 86,449,306 (GRCm39) |
C576Y |
probably damaging |
Het |
Lama1 |
G |
T |
17: 68,044,502 (GRCm39) |
A134S |
probably damaging |
Het |
Larp4 |
T |
G |
15: 99,895,277 (GRCm39) |
F283L |
possibly damaging |
Het |
Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
Mettl18 |
T |
A |
1: 163,824,394 (GRCm39) |
D238E |
probably benign |
Het |
Mfn1 |
G |
T |
3: 32,617,575 (GRCm39) |
E74* |
probably null |
Het |
Mfn2 |
C |
A |
4: 147,979,063 (GRCm39) |
E90* |
probably null |
Het |
Mill2 |
T |
A |
7: 18,590,413 (GRCm39) |
D164E |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
Or10ak11 |
T |
C |
4: 118,687,359 (GRCm39) |
I93V |
probably damaging |
Het |
Or4c100 |
G |
A |
2: 88,356,730 (GRCm39) |
V268I |
possibly damaging |
Het |
Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
Pald1 |
G |
A |
10: 61,188,750 (GRCm39) |
R87W |
probably damaging |
Het |
Paox |
T |
A |
7: 139,713,967 (GRCm39) |
Y242* |
probably null |
Het |
Pde2a |
A |
T |
7: 101,133,774 (GRCm39) |
D85V |
probably damaging |
Het |
Pitrm1 |
C |
T |
13: 6,610,161 (GRCm39) |
T411I |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,350,268 (GRCm39) |
Q371R |
probably benign |
Het |
Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,082,145 (GRCm39) |
D38G |
possibly damaging |
Het |
Rag2 |
G |
A |
2: 101,460,583 (GRCm39) |
E298K |
probably benign |
Het |
Rbm12b2 |
G |
A |
4: 12,095,061 (GRCm39) |
R640H |
probably benign |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rims2 |
G |
T |
15: 39,341,962 (GRCm39) |
E604* |
probably null |
Het |
Rin2 |
A |
G |
2: 145,720,824 (GRCm39) |
D719G |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,662,142 (GRCm39) |
Q155* |
probably null |
Het |
Tacr1 |
A |
T |
6: 82,380,756 (GRCm39) |
I56F |
probably damaging |
Het |
Tbc1d4 |
G |
A |
14: 101,731,847 (GRCm39) |
T455M |
probably damaging |
Het |
Tex24 |
C |
T |
8: 27,834,883 (GRCm39) |
T137I |
probably damaging |
Het |
Tmem200a |
A |
C |
10: 25,869,313 (GRCm39) |
S319A |
probably benign |
Het |
Tmem242 |
G |
T |
17: 5,483,745 (GRCm39) |
A99E |
probably damaging |
Het |
Tmem30a |
C |
T |
9: 79,681,446 (GRCm39) |
R277H |
probably benign |
Het |
Tmprss11f |
G |
A |
5: 86,739,269 (GRCm39) |
A4V |
probably benign |
Het |
Triobp |
T |
G |
15: 78,875,640 (GRCm39) |
|
probably null |
Het |
Tshz2 |
A |
T |
2: 169,728,326 (GRCm39) |
Q505L |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
Vmn2r11 |
A |
T |
5: 109,201,657 (GRCm39) |
Y282* |
probably null |
Het |
Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,551,822 (GRCm39) |
Q1050* |
probably null |
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 |
|
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 |
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'- TCAGACATCAGAGAAGTCCTCC -3'
(R):5'- CAGATGTCCAGTAGGCCTCATC -3'
Sequencing Primer
(F):5'- TCAGAGAAGTCCTCCATTCAACAG -3'
(R):5'- AGTAGGCCTCATCCACCTC -3'
|
Posted On |
2014-10-16 |