Incidental Mutation 'R4582:Nt5c1b'
ID |
343748 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
MMRRC Submission |
041803-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4582 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 10440054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 548
(M548K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000020947]
[ENSMUST00000118657]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000219826]
[ENSMUST00000218339]
[ENSMUST00000218551]
[ENSMUST00000218287]
[ENSMUST00000218417]
[ENSMUST00000219292]
[ENSMUST00000218327]
[ENSMUST00000219049]
[ENSMUST00000220257]
[ENSMUST00000223534]
[ENSMUST00000220611]
|
AlphaFold |
Q91YE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002456
AA Change: M548K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: M548K
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: ENSMUST00000020947
|
SMART Domains |
Protein: ENSMUSP00000020947 Gene: ENSMUSG00000020621
Domain | Start | End | E-Value | Type |
transmembrane domain
|
2 |
21 |
N/A |
INTRINSIC |
Pfam:KR
|
45 |
199 |
3.4e-10 |
PFAM |
Pfam:adh_short
|
45 |
258 |
5.4e-34 |
PFAM |
Pfam:Epimerase
|
47 |
248 |
7.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118657
AA Change: M530K
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: M530K
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: ENSMUST00000147323
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622
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: M590K
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: M606K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218339
AA Change: M546K
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: M404K
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: M469K
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: M532K
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abra |
A |
T |
15: 41,732,681 (GRCm39) |
D128E |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,749,369 (GRCm39) |
V1006E |
possibly damaging |
Het |
Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
Brd9 |
T |
C |
13: 74,095,852 (GRCm39) |
F366L |
probably benign |
Het |
Brinp2 |
A |
G |
1: 158,095,508 (GRCm39) |
F118L |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,343,465 (GRCm39) |
|
probably null |
Het |
Celsr3 |
T |
C |
9: 108,722,922 (GRCm39) |
F189L |
probably damaging |
Het |
Cfap45 |
A |
G |
1: 172,357,479 (GRCm39) |
T36A |
probably benign |
Het |
Clec4a1 |
G |
T |
6: 122,909,150 (GRCm39) |
V173L |
possibly damaging |
Het |
Col6a5 |
G |
A |
9: 105,739,963 (GRCm39) |
T2552I |
probably benign |
Het |
Dcaf15 |
A |
G |
8: 84,824,598 (GRCm39) |
V533A |
probably damaging |
Het |
Dhrs9 |
A |
T |
2: 69,227,997 (GRCm39) |
I204F |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,892,153 (GRCm39) |
V811A |
possibly damaging |
Het |
Eef1akmt1 |
T |
C |
14: 57,787,905 (GRCm39) |
D151G |
probably damaging |
Het |
Eif4g3 |
G |
A |
4: 137,898,556 (GRCm39) |
R1109H |
probably damaging |
Het |
Gtpbp10 |
T |
C |
5: 5,592,395 (GRCm39) |
T191A |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,424,482 (GRCm39) |
N714S |
possibly damaging |
Het |
Lima1 |
T |
C |
15: 99,678,873 (GRCm39) |
T523A |
possibly damaging |
Het |
Lipe |
A |
G |
7: 25,097,127 (GRCm39) |
L272P |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,741,532 (GRCm39) |
E554G |
possibly damaging |
Het |
Lrrc66 |
T |
C |
5: 73,765,580 (GRCm39) |
S488G |
possibly damaging |
Het |
Man2a1 |
C |
T |
17: 65,059,494 (GRCm39) |
A1127V |
probably benign |
Het |
Naglu |
A |
T |
11: 100,962,755 (GRCm39) |
I187F |
probably damaging |
Het |
Or10ak14 |
A |
T |
4: 118,611,090 (GRCm39) |
I217N |
probably damaging |
Het |
Or6c38 |
A |
T |
10: 128,929,027 (GRCm39) |
V272E |
possibly damaging |
Het |
Pcdha3 |
T |
C |
18: 37,080,485 (GRCm39) |
V409A |
probably benign |
Het |
Pde6b |
A |
T |
5: 108,573,097 (GRCm39) |
|
probably null |
Het |
Pkd2 |
A |
T |
5: 104,650,210 (GRCm39) |
K857* |
probably null |
Het |
Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
Sacs |
G |
A |
14: 61,429,147 (GRCm39) |
G402D |
probably damaging |
Het |
Slc22a5 |
C |
T |
11: 53,782,035 (GRCm39) |
E111K |
probably damaging |
Het |
Sptbn1 |
G |
A |
11: 30,169,597 (GRCm39) |
R44C |
probably damaging |
Het |
Taf1 |
T |
C |
X: 100,637,601 (GRCm39) |
V1696A |
possibly damaging |
Het |
Tm9sf3 |
C |
A |
19: 41,244,605 (GRCm39) |
G91C |
probably damaging |
Het |
Tmie |
T |
G |
9: 110,702,865 (GRCm39) |
E32A |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tsga13 |
A |
T |
6: 30,879,298 (GRCm39) |
N138K |
probably benign |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Ugt1a10 |
A |
T |
1: 87,983,463 (GRCm39) |
D87V |
possibly damaging |
Het |
Vdac3-ps1 |
A |
T |
13: 18,206,177 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r29 |
A |
C |
6: 58,285,017 (GRCm39) |
I246L |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,743,382 (GRCm39) |
V310A |
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 |
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 |
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'- TTGCTTTGCCCCATCAGGAC -3'
(R):5'- GCTTGACTGTAGCTTGAAAGTTC -3'
Sequencing Primer
(F):5'- CCTACCTGGTTACAGCTCGTAGTG -3'
(R):5'- CACCAAAGGAGCTAAGTTTTGTGGTC -3'
|
Posted On |
2015-09-24 |