Incidental Mutation 'R8008:Nt5c1b'
ID |
616757 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
MMRRC Submission |
046048-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8008 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10425000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 182
(D182G)
|
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 |
possibly damaging
Transcript: ENSMUST00000002456
AA Change: D182G
PolyPhen 2
Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: D182G
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: D180G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: D180G
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 |
|
SMART Domains |
Protein: ENSMUSP00000123105 Gene: ENSMUSG00000020622 AA Change: D182G
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: D182G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622 AA Change: D182G
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: D240G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218026
AA Change: D182G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
AA Change: D240G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
AA Change: D180G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: D180G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218417
AA Change: D240G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218551
AA Change: D182G
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219049
AA Change: D182G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219292
AA Change: D182G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
AA Change: D240G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220257
AA Change: D240G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: D182G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: D182G
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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 |
2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
Alpi |
A |
G |
1: 87,026,384 (GRCm39) |
S536P |
unknown |
Het |
Ankar |
A |
G |
1: 72,705,643 (GRCm39) |
V789A |
possibly damaging |
Het |
Atp5f1b |
C |
A |
10: 127,919,277 (GRCm39) |
Q28K |
unknown |
Het |
Brpf1 |
T |
C |
6: 113,296,050 (GRCm39) |
V781A |
probably benign |
Het |
Cd177 |
G |
A |
7: 24,451,774 (GRCm39) |
S414L |
not run |
Het |
Cimip3 |
T |
A |
17: 47,747,661 (GRCm39) |
E28V |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,550,370 (GRCm39) |
T192S |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,551,349 (GRCm39) |
S119T |
probably damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,260 (GRCm39) |
N164S |
probably damaging |
Het |
Crybg2 |
T |
A |
4: 133,818,415 (GRCm39) |
N1390K |
probably damaging |
Het |
Epn2 |
C |
T |
11: 61,437,492 (GRCm39) |
A27T |
probably damaging |
Het |
Esp34 |
T |
C |
17: 38,870,490 (GRCm39) |
F128S |
possibly damaging |
Het |
Evpl |
T |
A |
11: 116,121,298 (GRCm39) |
N410Y |
probably null |
Het |
Flnb |
A |
G |
14: 7,892,155 (GRCm38) |
Y608C |
probably damaging |
Het |
Fpr3 |
T |
C |
17: 18,191,715 (GRCm39) |
S329P |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,560,331 (GRCm39) |
N1392I |
probably damaging |
Het |
Garin2 |
T |
A |
12: 78,761,817 (GRCm39) |
D160E |
probably benign |
Het |
Gpi1 |
G |
T |
7: 33,917,726 (GRCm39) |
N249K |
probably damaging |
Het |
Gpr87 |
T |
C |
3: 59,087,466 (GRCm39) |
N13S |
probably benign |
Het |
Gys2 |
T |
C |
6: 142,400,243 (GRCm39) |
T323A |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,016,770 (GRCm39) |
I1084T |
probably damaging |
Het |
Lrfn4 |
C |
G |
19: 4,663,565 (GRCm39) |
G323A |
probably benign |
Het |
Lrrc4c |
A |
T |
2: 97,460,594 (GRCm39) |
S407C |
possibly damaging |
Het |
Map3k20 |
A |
T |
2: 72,268,613 (GRCm39) |
Q540L |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,407,057 (GRCm39) |
V1158A |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,144,983 (GRCm39) |
D378G |
unknown |
Het |
Nhsl1 |
T |
A |
10: 18,284,186 (GRCm39) |
D42E |
probably damaging |
Het |
Nr0b2 |
C |
A |
4: 133,283,339 (GRCm39) |
A192E |
probably benign |
Het |
Or12d14-ps1 |
T |
C |
17: 37,673,265 (GRCm39) |
S86P |
probably damaging |
Het |
Or4c115 |
A |
T |
2: 88,928,059 (GRCm39) |
C71S |
probably benign |
Het |
Or5b119 |
T |
C |
19: 13,457,170 (GRCm39) |
T131A |
probably benign |
Het |
Or5k15 |
T |
C |
16: 58,710,251 (GRCm39) |
T111A |
probably benign |
Het |
Or8b12 |
A |
T |
9: 37,658,089 (GRCm39) |
I220F |
probably damaging |
Het |
Pepd |
A |
G |
7: 34,721,126 (GRCm39) |
N250S |
probably benign |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Pmp22 |
C |
T |
11: 63,049,233 (GRCm39) |
R159C |
probably damaging |
Het |
Pou3f1 |
C |
T |
4: 124,552,764 (GRCm39) |
A422V |
unknown |
Het |
Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
Rragc |
A |
G |
4: 123,829,340 (GRCm39) |
D352G |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,671,980 (GRCm39) |
V3420A |
probably benign |
Het |
Sez6 |
T |
A |
11: 77,864,082 (GRCm39) |
Y521* |
probably null |
Het |
Smc4 |
T |
C |
3: 68,914,645 (GRCm39) |
V86A |
probably damaging |
Het |
Stap2 |
T |
A |
17: 56,304,790 (GRCm39) |
M331L |
probably benign |
Het |
Syt8 |
G |
A |
7: 141,992,259 (GRCm39) |
R89H |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Trim21 |
G |
T |
7: 102,209,183 (GRCm39) |
T280K |
probably benign |
Het |
Trim36 |
C |
A |
18: 46,305,556 (GRCm39) |
V476F |
probably benign |
Het |
Troap |
G |
T |
15: 98,973,511 (GRCm39) |
R56L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,667,130 (GRCm39) |
I11492K |
unknown |
Het |
Tuft1 |
T |
C |
3: 94,521,440 (GRCm39) |
T390A |
probably damaging |
Het |
Ucp1 |
T |
C |
8: 84,020,640 (GRCm39) |
I150T |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,481 (GRCm39) |
C149S |
possibly damaging |
Het |
Vmn1r159 |
A |
T |
7: 22,542,665 (GRCm39) |
N122K |
possibly damaging |
Het |
Vmn1r237 |
T |
C |
17: 21,534,456 (GRCm39) |
C60R |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,128,494 (GRCm39) |
Y85* |
probably null |
Het |
Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
Wdr97 |
G |
A |
15: 76,244,832 (GRCm39) |
E1125K |
|
Het |
Zan |
T |
C |
5: 137,403,624 (GRCm39) |
E3974G |
unknown |
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 |
R7714:Nt5c1b
|
UTSW |
12 |
10,425,472 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGATGTCCAGTAGGCCTCATC -3'
Sequencing Primer
(F):5'- TCAGAGAAGTCCTCCATTCAACAG -3'
(R):5'- AGTAGGCCTCATCCACCTC -3'
|
Posted On |
2020-01-23 |