Incidental Mutation 'R4711:Nt5c1b'
| ID |
500016 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10420093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 11
(K11E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151401
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218327]
[ENSMUST00000218551]
[ENSMUST00000219826]
[ENSMUST00000219292]
[ENSMUST00000218417]
[ENSMUST00000223534]
[ENSMUST00000218287]
[ENSMUST00000220257]
[ENSMUST00000218339]
[ENSMUST00000219049]
[ENSMUST00000220611]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002456
AA Change: K11E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: K11E
| 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 damaging
Transcript: ENSMUST00000118657
AA Change: K11E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: K11E
| 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 damaging
Transcript: ENSMUST00000143739
AA Change: K11E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: K11E
| 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: K11E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: K11E
| 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: K11E
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218026
AA Change: K11E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218327
AA Change: K11E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218551
AA Change: K11E
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: K11E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219292
AA Change: K11E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218417
AA Change: K11E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223534
AA Change: K11E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218287
AA Change: K11E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220257
AA Change: K11E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218339
AA Change: K11E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219049
AA Change: K11E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: K11E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218288
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Col20a1 |
G |
C |
2: 180,634,284 (GRCm39) |
G83A |
probably damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,369,232 (GRCm39) |
S128P |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,370 (GRCm39) |
I173V |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Ring1 |
T |
C |
17: 34,241,333 (GRCm39) |
E261G |
possibly damaging |
Het |
| Sf3a3 |
C |
A |
4: 124,621,974 (GRCm39) |
D371E |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,167 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
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 |
|
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'- AGGAATGGCTACTACTCTCTTCAC -3'
(R):5'- AGGTTGGCCTACATTCTCCC -3'
Sequencing Primer
(F):5'- GTGGCATCAGTTAGTTACCATG -3'
(R):5'- GGCCTACATTCTCCCACACC -3'
|
| Posted On |
2017-11-30 |
Incidental Mutation