Incidental Mutation 'IGL02871:Nt5c1b'
| ID |
362563 |
| 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 # |
IGL02871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 10431325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 409
(M409I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218287]
[ENSMUST00000218551]
[ENSMUST00000218339]
[ENSMUST00000220611]
[ENSMUST00000218327]
[ENSMUST00000219049]
[ENSMUST00000219826]
[ENSMUST00000218417]
[ENSMUST00000220257]
[ENSMUST00000223534]
[ENSMUST00000219292]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002456
AA Change: M409I
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: M409I
| 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: M391I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: M391I
| 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: ENSMUST00000147323
AA Change: M409I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: M409I
| 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: M451I
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: M407I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: M393I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: M467I
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: M330I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: M393I
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl15 |
C |
A |
13: 114,291,374 (GRCm39) |
H179Q |
probably benign |
Het |
| Bin3 |
T |
A |
14: 70,366,354 (GRCm39) |
C72* |
probably null |
Het |
| Brca2 |
C |
T |
5: 150,466,017 (GRCm39) |
T1927I |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,678,968 (GRCm39) |
D26G |
probably benign |
Het |
| Casz1 |
T |
G |
4: 149,028,776 (GRCm39) |
S1074A |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Exosc9 |
A |
G |
3: 36,619,430 (GRCm39) |
N408S |
probably benign |
Het |
| Ezr |
G |
A |
17: 7,009,789 (GRCm39) |
Q352* |
probably null |
Het |
| Fbxl4 |
T |
A |
4: 22,386,213 (GRCm39) |
D273E |
probably benign |
Het |
| Gm3269 |
A |
T |
14: 16,028,154 (GRCm39) |
N193I |
probably damaging |
Het |
| Haus8 |
A |
T |
8: 71,709,138 (GRCm39) |
M90K |
probably benign |
Het |
| Igkv5-39 |
A |
T |
6: 69,877,490 (GRCm39) |
S89T |
probably benign |
Het |
| Nlrp4b |
A |
C |
7: 10,449,192 (GRCm39) |
D465A |
probably benign |
Het |
| Nsf |
A |
G |
11: 103,752,882 (GRCm39) |
|
probably benign |
Het |
| Or4a75 |
T |
C |
2: 89,448,504 (GRCm39) |
I11V |
probably benign |
Het |
| Or4c103 |
T |
A |
2: 88,513,428 (GRCm39) |
Y216F |
probably damaging |
Het |
| Or5ac17 |
T |
A |
16: 59,036,737 (GRCm39) |
K80* |
probably null |
Het |
| Pga5 |
T |
C |
19: 10,649,144 (GRCm39) |
|
probably benign |
Het |
| Pigk |
T |
A |
3: 152,472,153 (GRCm39) |
I355K |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,187,018 (GRCm39) |
Y404C |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,754,443 (GRCm39) |
E199G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,950 (GRCm39) |
S935P |
probably benign |
Het |
| Slc22a13 |
T |
C |
9: 119,025,077 (GRCm39) |
T200A |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,100,871 (GRCm39) |
I1264L |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,429 (GRCm39) |
C349S |
probably damaging |
Het |
| Thbs2 |
T |
C |
17: 14,906,048 (GRCm39) |
H284R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,313,042 (GRCm39) |
S704L |
probably damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,714 (GRCm39) |
Y344H |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation