Incidental Mutation 'R6722:Nt5c1b'
ID |
529652 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
MMRRC Submission |
044840-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6722 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 10422874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 56
(Y56N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218287]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000218417]
[ENSMUST00000218551]
[ENSMUST00000219049]
[ENSMUST00000219292]
[ENSMUST00000219826]
[ENSMUST00000220257]
[ENSMUST00000220611]
[ENSMUST00000223534]
|
AlphaFold |
Q91YE9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002456
AA Change: Y56N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: Y56N
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: Y56N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: Y56N
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: Y56N
|
SMART Domains |
Protein: ENSMUSP00000123105 Gene: ENSMUSG00000020622 AA Change: Y56N
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 benign
Transcript: ENSMUST00000147323
AA Change: Y56N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622 AA Change: Y56N
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: Y114N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
AA Change: Y56N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
AA Change: Y114N
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: Y1N
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
AA Change: Y56N
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: Y56N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
AA Change: Y114N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
AA Change: Y56N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219049
AA Change: Y56N
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
AA Change: Y56N
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
AA Change: Y114N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219281
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
AA Change: Y114N
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
AA Change: Y56N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: Y56N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
Validation Efficiency |
96% (52/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
T |
G |
12: 81,468,228 (GRCm39) |
D131A |
probably damaging |
Het |
Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
Bmal2 |
T |
A |
6: 146,720,398 (GRCm39) |
D187E |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
Cd84 |
G |
A |
1: 171,700,344 (GRCm39) |
V154M |
probably damaging |
Het |
Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,652,975 (GRCm39) |
E195K |
possibly damaging |
Het |
Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
Rundc3a |
A |
G |
11: 102,290,775 (GRCm39) |
N281S |
possibly damaging |
Het |
Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,844,512 (GRCm39) |
|
probably null |
Het |
Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
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 |
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 |
|
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'- ATGCTGAAGTTAGGATTGAGCC -3'
(R):5'- CCAGAACAGGGTCTAAACACTTTG -3'
Sequencing Primer
(F):5'- CCTAGACTGAATCAAGGGTCG -3'
(R):5'- GATGGCAGTATTCCTGCT -3'
|
Posted On |
2018-08-01 |