Incidental Mutation 'IGL01626:Nt5c1b'
| ID |
92725 |
| 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 # |
IGL01626
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 10424798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 115
(T115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218339]
[ENSMUST00000220257]
[ENSMUST00000218287]
[ENSMUST00000218327]
[ENSMUST00000218551]
[ENSMUST00000220611]
[ENSMUST00000218417]
[ENSMUST00000219292]
[ENSMUST00000223534]
[ENSMUST00000219826]
[ENSMUST00000219049]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002456
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: T115A
| 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: T113A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: T113A
| 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: T115A
|
| SMART Domains |
Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: T115A
| 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 benign
Transcript: ENSMUST00000147323
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: T115A
| 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: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: T113A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: T4A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
AA Change: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
AA Change: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: T60A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
AA Change: T113A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
AA Change: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219826
AA Change: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
AA Change: T115A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
G |
3: 59,926,595 (GRCm39) |
D188G |
probably damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,465 (GRCm39) |
Y447C |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,090 (GRCm39) |
L915M |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 28,665,564 (GRCm39) |
E152D |
possibly damaging |
Het |
| Dnase2b |
A |
G |
3: 146,290,371 (GRCm39) |
|
probably null |
Het |
| Ecpas |
G |
A |
4: 58,832,814 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,005,181 (GRCm39) |
V1860A |
probably damaging |
Het |
| Fbxl5 |
C |
A |
5: 43,916,047 (GRCm39) |
G455V |
probably benign |
Het |
| Fpr-rs4 |
G |
A |
17: 18,242,493 (GRCm39) |
V167M |
probably damaging |
Het |
| Fut7 |
C |
A |
2: 25,315,343 (GRCm39) |
Y153* |
probably null |
Het |
| Gnptab |
A |
G |
10: 88,273,357 (GRCm39) |
T1045A |
probably damaging |
Het |
| Gucy1a1 |
T |
A |
3: 82,015,926 (GRCm39) |
D354V |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,681 (GRCm39) |
V406A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,734,890 (GRCm39) |
F160S |
probably benign |
Het |
| Ice2 |
T |
G |
9: 69,314,614 (GRCm39) |
V42G |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,937,197 (GRCm39) |
Y406C |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,590,731 (GRCm39) |
T103I |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,131,359 (GRCm39) |
M1589L |
probably benign |
Het |
| Map4k3 |
A |
G |
17: 80,913,238 (GRCm39) |
V644A |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,712 (GRCm39) |
D696G |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,555,220 (GRCm39) |
V8A |
possibly damaging |
Het |
| Myo1h |
A |
G |
5: 114,453,027 (GRCm39) |
D9G |
probably damaging |
Het |
| Nop14 |
T |
A |
5: 34,806,689 (GRCm39) |
K472* |
probably null |
Het |
| Npat |
T |
A |
9: 53,467,871 (GRCm39) |
D275E |
possibly damaging |
Het |
| Or2d3c |
A |
T |
7: 106,526,627 (GRCm39) |
I13N |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,917,122 (GRCm39) |
N172S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,940,905 (GRCm39) |
S1086T |
possibly damaging |
Het |
| Pold1 |
C |
T |
7: 44,182,796 (GRCm39) |
|
probably null |
Het |
| Ppfia1 |
A |
G |
7: 144,035,456 (GRCm39) |
F1165L |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,328,804 (GRCm39) |
D426E |
probably benign |
Het |
| Ptgs2 |
G |
A |
1: 149,979,478 (GRCm39) |
R231H |
probably damaging |
Het |
| Rorc |
A |
G |
3: 94,296,094 (GRCm39) |
D91G |
probably damaging |
Het |
| Scaper |
C |
T |
9: 55,819,335 (GRCm39) |
V127M |
possibly damaging |
Het |
| Sema3g |
A |
T |
14: 30,943,684 (GRCm39) |
Y188F |
probably damaging |
Het |
| Slc45a3 |
G |
T |
1: 131,906,725 (GRCm39) |
A400S |
possibly damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,891,452 (GRCm39) |
H1973L |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,750,609 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stx16 |
T |
G |
2: 173,935,813 (GRCm39) |
I248S |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 7,002,839 (GRCm39) |
R287G |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,609,856 (GRCm39) |
T82A |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,918,637 (GRCm39) |
L659P |
probably damaging |
Het |
| Ttc13 |
G |
A |
8: 125,400,477 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,590,213 (GRCm39) |
|
probably null |
Het |
| Vldlr |
G |
T |
19: 27,221,173 (GRCm39) |
R613L |
probably damaging |
Het |
| Wdr77 |
C |
T |
3: 105,867,002 (GRCm39) |
R35* |
probably null |
Het |
| Zc3h14 |
T |
G |
12: 98,745,445 (GRCm39) |
I478R |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,364,920 (GRCm39) |
H27R |
probably damaging |
Het |
|
| Other mutations in Nt5c1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation