Incidental Mutation 'IGL03003:Nt5c1b'
| ID |
407414 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nt5c1b
|
| Ensembl Gene |
ENSMUSG00000020622 |
| Gene Name |
5'-nucleotidase, cytosolic IB |
| Synonyms |
4921514H13Rik, CN-IB |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
10369973-10390175 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 10374910 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 210
(A210V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218287]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000218551]
[ENSMUST00000218417]
[ENSMUST00000219292]
[ENSMUST00000219049]
[ENSMUST00000220611]
[ENSMUST00000220257]
[ENSMUST00000219826]
[ENSMUST00000223534]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002456
AA Change: A152V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: A152V
| 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: A150V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: A150V
| 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: A152V
|
| SMART Domains |
Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: A152V
| 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: A152V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: A152V
| 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: A210V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
AA Change: A152V
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
AA Change: A210V
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: A97V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
AA Change: A150V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: A150V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
AA Change: A152V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
AA Change: A210V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219292
AA Change: A152V
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219049
AA Change: A152V
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: A41V
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
AA Change: A152V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220257
AA Change: A210V
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
AA Change: A210V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: A152V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,743,772 (GRCm38) |
P577L |
probably damaging |
Het |
| Aff3 |
A |
T |
1: 38,209,570 (GRCm38) |
S819T |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,726,982 (GRCm38) |
S209* |
probably null |
Het |
| Astn1 |
T |
A |
1: 158,612,395 (GRCm38) |
D844E |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,671,266 (GRCm38) |
K29E |
probably benign |
Het |
| Ccdc93 |
T |
C |
1: 121,463,117 (GRCm38) |
S273P |
possibly damaging |
Het |
| Cd200r3 |
G |
T |
16: 44,943,775 (GRCm38) |
M1I |
probably null |
Het |
| Cd200r3 |
C |
A |
16: 44,943,776 (GRCm38) |
H2N |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,974,956 (GRCm38) |
|
probably null |
Het |
| Cyp3a41a |
T |
A |
5: 145,705,830 (GRCm38) |
M240L |
probably benign |
Het |
| D430042O09Rik |
A |
T |
7: 125,851,960 (GRCm38) |
I1088F |
probably damaging |
Het |
| Dcstamp |
T |
C |
15: 39,754,510 (GRCm38) |
V105A |
possibly damaging |
Het |
| Dmbt1 |
C |
A |
7: 131,082,679 (GRCm38) |
P635Q |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,336,819 (GRCm38) |
M634K |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,567,418 (GRCm38) |
Y138H |
probably damaging |
Het |
| Fga |
T |
C |
3: 83,032,730 (GRCm38) |
S564P |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,255,655 (GRCm38) |
L142S |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,250,844 (GRCm38) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 181,240,253 (GRCm38) |
V249A |
probably damaging |
Het |
| Hmcn2 |
C |
A |
2: 31,433,486 (GRCm38) |
T4204K |
probably damaging |
Het |
| Ift81 |
T |
C |
5: 122,594,662 (GRCm38) |
I270V |
probably benign |
Het |
| Kif6 |
C |
T |
17: 49,753,871 (GRCm38) |
R411* |
probably null |
Het |
| Klhl35 |
T |
A |
7: 99,470,343 (GRCm38) |
V345D |
probably damaging |
Het |
| Mcm3ap |
C |
A |
10: 76,504,697 (GRCm38) |
D1531E |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,863,614 (GRCm38) |
D3432E |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,350,314 (GRCm38) |
V998D |
probably damaging |
Het |
| Nlrc3 |
C |
A |
16: 3,964,862 (GRCm38) |
V228L |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,321,952 (GRCm38) |
H1456R |
probably damaging |
Het |
| Olfr364-ps1 |
T |
C |
2: 37,146,452 (GRCm38) |
V80A |
probably benign |
Het |
| Olfr46 |
A |
G |
7: 140,610,370 (GRCm38) |
Y60C |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 97,050,695 (GRCm38) |
Y15H |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,041,957 (GRCm38) |
N552Y |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,984,812 (GRCm38) |
S280T |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,593,603 (GRCm38) |
|
probably null |
Het |
| Polh |
A |
T |
17: 46,194,366 (GRCm38) |
V108E |
possibly damaging |
Het |
| Prob1 |
A |
G |
18: 35,653,375 (GRCm38) |
S609P |
possibly damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,002,583 (GRCm38) |
N1557K |
probably damaging |
Het |
| Rev1 |
A |
C |
1: 38,088,073 (GRCm38) |
F369V |
possibly damaging |
Het |
| Rgma |
A |
G |
7: 73,417,440 (GRCm38) |
N148D |
probably damaging |
Het |
| Robo3 |
A |
G |
9: 37,419,291 (GRCm38) |
L1003S |
probably damaging |
Het |
| Sdhb |
T |
C |
4: 140,973,000 (GRCm38) |
V137A |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,169,614 (GRCm38) |
L337P |
probably damaging |
Het |
| Shc4 |
A |
T |
2: 125,723,333 (GRCm38) |
Y15* |
probably null |
Het |
| Slc4a9 |
T |
C |
18: 36,536,893 (GRCm38) |
S722P |
probably damaging |
Het |
| Smarcc1 |
A |
G |
9: 110,206,100 (GRCm38) |
N864D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,455,087 (GRCm38) |
L745P |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 113,654,067 (GRCm38) |
D137G |
probably damaging |
Het |
| Tbc1d1 |
G |
T |
5: 64,316,438 (GRCm38) |
W768L |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,661,887 (GRCm38) |
D7G |
probably benign |
Het |
| Tmem109 |
A |
C |
19: 10,874,331 (GRCm38) |
S64A |
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,039,943 (GRCm38) |
R333G |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,781,611 (GRCm38) |
S17316R |
probably damaging |
Het |
| Usp10 |
A |
G |
8: 119,954,810 (GRCm38) |
T668A |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,515,562 (GRCm38) |
F2716I |
possibly damaging |
Het |
|
| Other mutations in Nt5c1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Nt5c1b
|
APN |
12 |
10,374,798 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01737:Nt5c1b
|
APN |
12 |
10,390,108 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02114:Nt5c1b
|
APN |
12 |
10,375,444 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02131:Nt5c1b
|
APN |
12 |
10,375,491 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
IGL02135:Nt5c1b
|
APN |
12 |
10,377,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02871:Nt5c1b
|
APN |
12 |
10,381,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03327:Nt5c1b
|
APN |
12 |
10,374,861 (GRCm38) |
nonsense |
probably null |
|
|
R0838:Nt5c1b
|
UTSW |
12 |
10,375,071 (GRCm38) |
nonsense |
probably null |
|
|
R1340:Nt5c1b
|
UTSW |
12 |
10,377,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1480:Nt5c1b
|
UTSW |
12 |
10,374,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1599:Nt5c1b
|
UTSW |
12 |
10,390,024 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1674:Nt5c1b
|
UTSW |
12 |
10,370,055 (GRCm38) |
start gained |
probably benign |
|
|
R1691:Nt5c1b
|
UTSW |
12 |
10,375,537 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2237:Nt5c1b
|
UTSW |
12 |
10,375,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2238:Nt5c1b
|
UTSW |
12 |
10,390,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2238:Nt5c1b
|
UTSW |
12 |
10,375,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2239:Nt5c1b
|
UTSW |
12 |
10,375,558 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2260:Nt5c1b
|
UTSW |
12 |
10,374,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2424:Nt5c1b
|
UTSW |
12 |
10,370,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3607:Nt5c1b
|
UTSW |
12 |
10,377,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4276:Nt5c1b
|
UTSW |
12 |
10,374,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4582:Nt5c1b
|
UTSW |
12 |
10,390,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4711:Nt5c1b
|
UTSW |
12 |
10,370,093 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4775:Nt5c1b
|
UTSW |
12 |
10,375,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5840:Nt5c1b
|
UTSW |
12 |
10,377,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5940:Nt5c1b
|
UTSW |
12 |
10,375,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6104:Nt5c1b
|
UTSW |
12 |
10,372,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6329:Nt5c1b
|
UTSW |
12 |
10,372,138 (GRCm38) |
nonsense |
probably null |
|
|
R6626:Nt5c1b
|
UTSW |
12 |
10,374,837 (GRCm38) |
nonsense |
probably null |
|
|
R6722:Nt5c1b
|
UTSW |
12 |
10,372,874 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7424:Nt5c1b
|
UTSW |
12 |
10,381,391 (GRCm38) |
splice site |
probably null |
|
|
R7491:Nt5c1b
|
UTSW |
12 |
10,374,903 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7714:Nt5c1b
|
UTSW |
12 |
10,375,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8008:Nt5c1b
|
UTSW |
12 |
10,375,000 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R8711:Nt5c1b
|
UTSW |
12 |
10,381,450 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9302:Nt5c1b
|
UTSW |
12 |
10,380,882 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9661:Nt5c1b
|
UTSW |
12 |
10,375,450 (GRCm38) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation