Incidental Mutation 'R7714:Nt5c1b'
| ID |
594805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c1b
|
| Ensembl Gene |
ENSMUSG00000020622 |
| Gene Name |
5'-nucleotidase, cytosolic IB |
| Synonyms |
4921514H13Rik, CN-IB |
| MMRRC Submission |
045772-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10425472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 280
(N280K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002456
(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 damaging
Transcript: ENSMUST00000002456
AA Change: N280K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: N280K
| 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: N262K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: N262K
| 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: N280K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: N280K
| 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: N322K
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218026
AA Change: I279K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218287
AA Change: N338K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218327
AA Change: N262K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218339
AA Change: N278K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218417
AA Change: N322K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218551
AA Change: N264K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219049
AA Change: I268K
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219292
AA Change: N280K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: N338K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220257
AA Change: N338K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: N264K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223534
AA Change: N264K
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (63/65) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,587 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
A |
4: 156,279,854 (GRCm39) |
D106Y |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,352 (GRCm39) |
Y416N |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,775,533 (GRCm39) |
T135M |
probably damaging |
Het |
| Bach1 |
C |
A |
16: 87,515,736 (GRCm39) |
Y92* |
probably null |
Het |
| Catsperg1 |
A |
C |
7: 28,884,907 (GRCm39) |
C905G |
probably null |
Het |
| Cbr2 |
T |
C |
11: 120,620,628 (GRCm39) |
I219V |
probably benign |
Het |
| Ccdc3 |
A |
T |
2: 5,233,908 (GRCm39) |
K244I |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,265,433 (GRCm39) |
V237A |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,319 (GRCm39) |
C81R |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,242,723 (GRCm39) |
|
probably null |
Het |
| Cracdl |
T |
A |
1: 37,663,858 (GRCm39) |
Q680L |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,379,236 (GRCm39) |
S673T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,276,743 (GRCm39) |
Y848* |
probably null |
Het |
| Dgkb |
C |
A |
12: 38,680,592 (GRCm39) |
T764K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,775,648 (GRCm39) |
C530* |
probably null |
Het |
| Dpyd |
A |
G |
3: 118,597,780 (GRCm39) |
K254R |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,384,614 (GRCm39) |
P703S |
possibly damaging |
Het |
| Ehhadh |
A |
T |
16: 21,585,140 (GRCm39) |
I247N |
probably damaging |
Het |
| Fer1l5 |
T |
G |
1: 36,440,558 (GRCm39) |
L597R |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,842 (GRCm39) |
E71G |
probably damaging |
Het |
| Fnip2 |
A |
C |
3: 79,425,421 (GRCm39) |
V58G |
probably damaging |
Het |
| Gapdhs |
A |
T |
7: 30,431,349 (GRCm39) |
I377N |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,733,359 (GRCm39) |
A1059V |
probably damaging |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Grik2 |
A |
C |
10: 49,295,792 (GRCm39) |
I392S |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,606 (GRCm39) |
L228P |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,223,568 (GRCm39) |
M659L |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,580,364 (GRCm39) |
C570R |
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,812,279 (GRCm39) |
|
probably null |
Het |
| Lipf |
G |
A |
19: 33,943,048 (GRCm39) |
G119R |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,719 (GRCm39) |
I1416M |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,028,130 (GRCm39) |
I345L |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,722,360 (GRCm39) |
A2381T |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,001,007 (GRCm39) |
V690A |
probably benign |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 35,083,872 (GRCm39) |
Y106H |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,549,519 (GRCm39) |
Y166H |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,364,493 (GRCm39) |
H390L |
probably benign |
Het |
| Or10aa1 |
G |
A |
1: 173,869,900 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b116 |
A |
T |
19: 13,423,252 (GRCm39) |
N292I |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,597 (GRCm39) |
F1947L |
probably damaging |
Het |
| Pabpc4 |
G |
A |
4: 123,189,102 (GRCm39) |
A481T |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,741,791 (GRCm39) |
T53I |
possibly damaging |
Het |
| Pilra |
C |
T |
5: 137,833,679 (GRCm39) |
R129Q |
probably benign |
Het |
| Pkd1 |
C |
T |
17: 24,769,250 (GRCm39) |
A5V |
unknown |
Het |
| Pmch |
T |
C |
10: 87,927,242 (GRCm39) |
S82P |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,292,276 (GRCm39) |
S180G |
probably benign |
Het |
| Rassf8 |
A |
C |
6: 145,760,973 (GRCm39) |
T100P |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,890 (GRCm39) |
E394G |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,838,772 (GRCm39) |
V418E |
probably benign |
Het |
| Sdad1 |
A |
T |
5: 92,450,538 (GRCm39) |
V199D |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,063,761 (GRCm39) |
S2227T |
probably benign |
Het |
| Tac4 |
A |
G |
11: 95,156,116 (GRCm39) |
M66V |
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,031 (GRCm39) |
V188A |
probably benign |
Het |
| Tcerg1 |
T |
C |
18: 42,694,000 (GRCm39) |
V707A |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,129 (GRCm39) |
E32G |
possibly damaging |
Het |
| Trav13d-4 |
G |
A |
14: 53,995,355 (GRCm39) |
G103D |
probably damaging |
Het |
| Trav8d-1 |
A |
G |
14: 53,016,380 (GRCm39) |
S89G |
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,718,572 (GRCm39) |
S141L |
probably benign |
Het |
| Vash1 |
T |
C |
12: 86,738,614 (GRCm39) |
S354P |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,116 (GRCm39) |
I726F |
|
Het |
| Vmn2r53 |
A |
C |
7: 12,340,418 (GRCm39) |
N18K |
probably damaging |
Het |
| Wnt6 |
T |
C |
1: 74,823,422 (GRCm39) |
F253S |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,811 (GRCm39) |
I118T |
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 |
|
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 |
|
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'- GTATGAGAAGATCCCCAGCTG -3'
(R):5'- AACTCCCAAAGGTCCATCTGG -3'
Sequencing Primer
(F):5'- GAAGATCCCCAGCTGTGCAC -3'
(R):5'- GGTCCTTTTTCTTCTTATGCAGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation