Incidental Mutation 'R6104:Nt5c1b'
ID |
485440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nt5c1b
|
Ensembl Gene |
ENSMUSG00000020622 |
Gene Name |
5'-nucleotidase, cytosolic IB |
Synonyms |
4921514H13Rik, CN-IB |
MMRRC Submission |
044254-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6104 (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 10422955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 83
(N83D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000220257]
[ENSMUST00000218287]
[ENSMUST00000219292]
[ENSMUST00000223534]
[ENSMUST00000218417]
[ENSMUST00000218551]
[ENSMUST00000219826]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000219049]
[ENSMUST00000220611]
|
AlphaFold |
Q91YE9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002456
AA Change: N83D
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000002456 Gene: ENSMUSG00000020622 AA Change: N83D
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: N83D
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112694 Gene: ENSMUSG00000020622 AA Change: N83D
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: N83D
|
SMART Domains |
Protein: ENSMUSP00000123105 Gene: ENSMUSG00000020622 AA Change: N83D
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: N83D
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117869 Gene: ENSMUSG00000020622 AA Change: N83D
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: N141D
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218026
AA Change: N83D
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220257
AA Change: N141D
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218287
AA Change: N141D
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: N28D
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219292
AA Change: N83D
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223534
AA Change: N83D
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218417
AA Change: N141D
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218551
AA Change: N83D
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219826
AA Change: N141D
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218327
AA Change: N83D
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218339
AA Change: N83D
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219049
AA Change: N83D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220611
AA Change: N83D
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219281
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
A |
T |
4: 106,613,094 (GRCm39) |
L327Q |
probably damaging |
Het |
Atrip |
C |
T |
9: 108,894,632 (GRCm39) |
A432T |
possibly damaging |
Het |
Chd6 |
T |
C |
2: 160,856,052 (GRCm39) |
T736A |
probably damaging |
Het |
Cyp1b1 |
T |
A |
17: 80,017,634 (GRCm39) |
Y507F |
probably damaging |
Het |
Desi2 |
G |
A |
1: 178,077,018 (GRCm39) |
R174H |
probably benign |
Het |
Dop1a |
A |
T |
9: 86,402,860 (GRCm39) |
K1351N |
possibly damaging |
Het |
Fads2b |
T |
A |
2: 85,338,693 (GRCm39) |
K149* |
probably null |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Fzd2 |
T |
C |
11: 102,497,161 (GRCm39) |
I535T |
probably damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
Grm6 |
T |
A |
11: 50,750,144 (GRCm39) |
I466N |
possibly damaging |
Het |
Il17a |
A |
G |
1: 20,802,498 (GRCm39) |
Y69C |
probably damaging |
Het |
Itgam |
A |
G |
7: 127,715,474 (GRCm39) |
D938G |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,504,127 (GRCm39) |
D316G |
probably benign |
Het |
Lrba |
C |
A |
3: 86,261,099 (GRCm39) |
A1485E |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,935,319 (GRCm39) |
T1483I |
probably damaging |
Het |
Myo18b |
T |
C |
5: 113,022,157 (GRCm39) |
|
probably benign |
Het |
Myo5b |
T |
A |
18: 74,833,750 (GRCm39) |
I842N |
probably benign |
Het |
Nckap5l |
C |
T |
15: 99,321,869 (GRCm39) |
S1092N |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,265,250 (GRCm39) |
S273P |
probably damaging |
Het |
Oas3 |
T |
A |
5: 120,899,758 (GRCm39) |
I709F |
unknown |
Het |
Or1p1 |
C |
A |
11: 74,180,192 (GRCm39) |
T240N |
probably damaging |
Het |
Or8i2 |
T |
C |
2: 86,852,057 (GRCm39) |
Y277C |
probably damaging |
Het |
Pogz |
A |
G |
3: 94,787,342 (GRCm39) |
D1310G |
probably benign |
Het |
Ppfia1 |
A |
G |
7: 144,045,311 (GRCm39) |
S949P |
possibly damaging |
Het |
Pxylp1 |
A |
C |
9: 96,706,800 (GRCm39) |
F461V |
possibly damaging |
Het |
Rcn3 |
A |
G |
7: 44,740,947 (GRCm39) |
Y54H |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,843,606 (GRCm39) |
H242R |
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,519,407 (GRCm39) |
D735E |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,624,744 (GRCm39) |
I526T |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,556,781 (GRCm39) |
V211A |
possibly damaging |
Het |
Syt10 |
A |
T |
15: 89,711,067 (GRCm39) |
H155Q |
probably benign |
Het |
Taar8b |
A |
T |
10: 23,968,135 (GRCm39) |
S20T |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,486,496 (GRCm39) |
I988F |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,084 (GRCm39) |
I202K |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,856,130 (GRCm39) |
S17P |
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,578,931 (GRCm39) |
T614A |
probably benign |
Het |
Vmn2r80 |
A |
C |
10: 78,984,854 (GRCm39) |
N69H |
probably benign |
Het |
Xylb |
T |
A |
9: 119,193,573 (GRCm39) |
*66R |
probably null |
Het |
Ylpm1 |
G |
A |
12: 85,076,404 (GRCm39) |
R1043H |
probably benign |
Het |
Ythdf3 |
G |
A |
3: 16,259,325 (GRCm39) |
V491I |
possibly damaging |
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 |
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'- ATGGTTATCCTGTGGGCACAT -3'
(R):5'- AGCTAAATTAACTACCAAGAAGTCAGT -3'
Sequencing Primer
(F):5'- TCCTGTGGGCACATACATATAAGG -3'
(R):5'- ATGCTCACAGTCAGCTATTGG -3'
|
Posted On |
2017-08-16 |