Incidental Mutation 'R4775:Nt5c1b'
| ID |
367866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c1b
|
| Ensembl Gene |
ENSMUSG00000020622 |
| Gene Name |
5'-nucleotidase, cytosolic IB |
| Synonyms |
4921514H13Rik, CN-IB |
| MMRRC Submission |
041991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4775 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10425449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 331
(V331I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218551]
[ENSMUST00000219826]
[ENSMUST00000218287]
[ENSMUST00000218417]
[ENSMUST00000219292]
[ENSMUST00000223534]
[ENSMUST00000220257]
[ENSMUST00000219049]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000220611]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002456
AA Change: V273I
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: V273I
| 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: V255I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: V255I
| 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: V273I
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: V273I
| 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: V315I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
silent
Transcript: ENSMUST00000218026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218551
AA Change: V257I
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: V331I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218287
AA Change: V331I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218417
AA Change: V315I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219292
AA Change: V273I
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223534
AA Change: V257I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220257
AA Change: V331I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: V194I
|
| Predicted Effect |
silent
Transcript: ENSMUST00000219049
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218327
AA Change: V255I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218339
AA Change: V271I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: V162I
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220611
AA Change: V257I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,134,165 (GRCm39) |
Y426C |
probably damaging |
Het |
| Adam7 |
A |
G |
14: 68,745,361 (GRCm39) |
I621T |
probably benign |
Het |
| Adamts1 |
A |
T |
16: 85,597,278 (GRCm39) |
Y260* |
probably null |
Het |
| Adgrf1 |
C |
T |
17: 43,622,054 (GRCm39) |
L764F |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,808,984 (GRCm39) |
|
probably null |
Het |
| C5ar2 |
A |
C |
7: 15,971,540 (GRCm39) |
L129R |
probably damaging |
Het |
| Ccdc174 |
G |
A |
6: 91,867,875 (GRCm39) |
|
probably null |
Het |
| Cidec |
T |
C |
6: 113,411,695 (GRCm39) |
M1V |
probably null |
Het |
| Clec16a |
G |
T |
16: 10,456,778 (GRCm39) |
R663L |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 129,976,468 (GRCm39) |
C118R |
possibly damaging |
Het |
| Cox6b2 |
A |
G |
7: 4,755,074 (GRCm39) |
C67R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,454,229 (GRCm39) |
I92F |
possibly damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,973 (GRCm39) |
Y435C |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,897,156 (GRCm39) |
S792T |
probably benign |
Het |
| Dis3l |
T |
A |
9: 64,238,190 (GRCm39) |
N101Y |
probably benign |
Het |
| Dsg4 |
A |
G |
18: 20,604,184 (GRCm39) |
T884A |
possibly damaging |
Het |
| Dvl1 |
T |
C |
4: 155,942,584 (GRCm39) |
W617R |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,768,566 (GRCm39) |
V1503A |
probably benign |
Het |
| Engase |
A |
T |
11: 118,373,497 (GRCm39) |
D280V |
probably benign |
Het |
| F11r |
T |
C |
1: 171,289,209 (GRCm39) |
S224P |
probably damaging |
Het |
| Fanca |
A |
G |
8: 124,023,045 (GRCm39) |
V564A |
probably damaging |
Het |
| Foxj2 |
G |
T |
6: 122,810,230 (GRCm39) |
Q196H |
probably benign |
Het |
| Gle1 |
T |
C |
2: 29,826,073 (GRCm39) |
W51R |
possibly damaging |
Het |
| Gm94 |
A |
G |
18: 43,925,836 (GRCm39) |
|
probably null |
Het |
| Gm9830 |
A |
T |
9: 44,375,721 (GRCm39) |
|
noncoding transcript |
Het |
| Gpaa1 |
T |
A |
15: 76,218,891 (GRCm39) |
|
probably null |
Het |
| Grin1 |
C |
T |
2: 25,182,475 (GRCm39) |
A929T |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 110,891,332 (GRCm39) |
D188E |
probably damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,242,970 (GRCm39) |
F395L |
probably benign |
Het |
| Lipo3 |
C |
A |
19: 33,757,795 (GRCm39) |
G225C |
probably damaging |
Het |
| Lonrf2 |
T |
A |
1: 38,857,140 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
A |
G |
13: 100,753,303 (GRCm39) |
|
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,777 (GRCm39) |
L416P |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,359,930 (GRCm39) |
L312P |
possibly damaging |
Het |
| Mpzl3 |
T |
A |
9: 44,977,730 (GRCm39) |
S113T |
probably damaging |
Het |
| Mylk3 |
G |
A |
8: 86,085,689 (GRCm39) |
Q149* |
probably null |
Het |
| Myt1 |
T |
A |
2: 181,464,470 (GRCm39) |
I968N |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,265 (GRCm39) |
Y228H |
probably damaging |
Het |
| Nelfcd |
T |
G |
2: 174,268,369 (GRCm39) |
C520G |
probably damaging |
Het |
| Nfrkb |
C |
A |
9: 31,330,345 (GRCm39) |
T1199K |
possibly damaging |
Het |
| Nipa2 |
A |
G |
7: 55,585,611 (GRCm39) |
I109T |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,042,525 (GRCm39) |
T804A |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,763,419 (GRCm39) |
I395K |
possibly damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,377 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pask |
T |
C |
1: 93,265,246 (GRCm39) |
D3G |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,037 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,019,825 (GRCm39) |
V377M |
probably damaging |
Het |
| Prr12 |
A |
G |
7: 44,700,749 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
G |
A |
13: 67,135,922 (GRCm39) |
|
probably null |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,092,551 (GRCm39) |
Y350F |
probably benign |
Het |
| Skint4 |
A |
T |
4: 111,993,261 (GRCm39) |
H328L |
probably damaging |
Het |
| Smyd4 |
G |
A |
11: 75,282,018 (GRCm39) |
C497Y |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,510,497 (GRCm39) |
W864R |
possibly damaging |
Het |
| Stkld1 |
T |
A |
2: 26,841,757 (GRCm39) |
V543E |
probably damaging |
Het |
| Taok2 |
A |
G |
7: 126,469,940 (GRCm39) |
S963P |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,653,959 (GRCm39) |
L354P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,821,079 (GRCm39) |
L325P |
probably damaging |
Het |
| Trappc3l |
C |
G |
10: 33,974,807 (GRCm39) |
H96Q |
probably benign |
Het |
| Trim66 |
A |
T |
7: 109,056,796 (GRCm39) |
Y1120* |
probably null |
Het |
| Trio |
G |
A |
15: 27,881,428 (GRCm39) |
Q548* |
probably null |
Het |
| Wipf2 |
T |
A |
11: 98,781,558 (GRCm39) |
D32E |
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 |
|
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 |
|
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'- GTATGAGAAGATCCCCAGCTGTG -3'
(R):5'- TCTTATGCAGAGTCCCTGATGG -3'
Sequencing Primer
(F):5'- TGGCTTCTGGCACCCCTAG -3'
(R):5'- CCTGATGGGAGTGAACGGC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation