Incidental Mutation 'R8711:Nt5c1b'
| ID |
669593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c1b
|
| Ensembl Gene |
ENSMUSG00000020622 |
| Gene Name |
5'-nucleotidase, cytosolic IB |
| Synonyms |
4921514H13Rik, CN-IB |
| MMRRC Submission |
068565-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8711 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
10419973-10440175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 10431450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 451
(F451Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000218287]
[ENSMUST00000218327]
[ENSMUST00000218339]
[ENSMUST00000218417]
[ENSMUST00000218551]
[ENSMUST00000219049]
[ENSMUST00000219292]
[ENSMUST00000219826]
[ENSMUST00000220257]
[ENSMUST00000220611]
[ENSMUST00000223534]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002456
AA Change: F451Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: F451Y
| 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: F433Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: F433Y
| 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: F451Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: F451Y
| 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 damaging
Transcript: ENSMUST00000217944
AA Change: F493Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218288
AA Change: F372Y
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218327
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218339
AA Change: F449Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219292
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219630
AA Change: F307Y
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219826
AA Change: F509Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220257
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220611
AA Change: F435Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223534
AA Change: F435Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
A |
8: 60,969,120 (GRCm39) |
S122T |
probably benign |
Het |
| Abcb11 |
G |
A |
2: 69,095,856 (GRCm39) |
T828I |
probably damaging |
Het |
| Atp5f1b |
T |
A |
10: 127,921,369 (GRCm39) |
N222K |
probably damaging |
Het |
| C1qbp |
T |
C |
11: 70,869,313 (GRCm39) |
T211A |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,384,146 (GRCm39) |
S410T |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,100,485 (GRCm39) |
|
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,824 (GRCm39) |
K265N |
probably damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,529,660 (GRCm39) |
M237K |
possibly damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,894,962 (GRCm39) |
|
probably benign |
Het |
| Cytip |
A |
T |
2: 58,041,135 (GRCm39) |
F90L |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,214,598 (GRCm39) |
D1121G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,859 (GRCm39) |
E84D |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,743,371 (GRCm39) |
I2187V |
probably benign |
Het |
| Eif1ad19 |
T |
A |
12: 87,740,130 (GRCm39) |
D143V |
unknown |
Het |
| Eif4g2 |
T |
C |
7: 110,673,127 (GRCm39) |
Y855C |
probably damaging |
Het |
| Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
| Ermap |
T |
C |
4: 119,044,355 (GRCm39) |
Y147C |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,709,944 (GRCm39) |
D371G |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,159,129 (GRCm39) |
S3348P |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,684,924 (GRCm39) |
N472Y |
probably benign |
Het |
| Flad1 |
A |
G |
3: 89,316,415 (GRCm39) |
V49A |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,554 (GRCm39) |
T196A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,815,246 (GRCm39) |
N3660D |
possibly damaging |
Het |
| Gabrp |
T |
A |
11: 33,505,023 (GRCm39) |
L259F |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,473 (GRCm39) |
W119R |
unknown |
Het |
| Gng2 |
C |
T |
14: 19,941,438 (GRCm39) |
M1I |
probably null |
Het |
| Hmgxb3 |
T |
C |
18: 61,290,721 (GRCm39) |
N384S |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,606,208 (GRCm39) |
I440V |
probably benign |
Het |
| Il11ra1 |
A |
G |
4: 41,767,539 (GRCm39) |
D297G |
probably damaging |
Het |
| Irf2bpl |
T |
C |
12: 86,928,496 (GRCm39) |
I726V |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,867,996 (GRCm39) |
N56S |
probably benign |
Het |
| Laptm4b |
T |
A |
15: 34,277,648 (GRCm39) |
V193E |
probably damaging |
Het |
| Lrrc37a |
A |
T |
11: 103,388,350 (GRCm39) |
C2358* |
probably null |
Het |
| Ltbp2 |
C |
T |
12: 84,900,515 (GRCm39) |
S269N |
probably benign |
Het |
| Morc2a |
T |
G |
11: 3,630,013 (GRCm39) |
Y450D |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,407,430 (GRCm39) |
I2740K |
probably benign |
Het |
| Naif1 |
T |
A |
2: 32,344,848 (GRCm39) |
V184E |
probably damaging |
Het |
| Neurl1b |
T |
C |
17: 26,660,747 (GRCm39) |
V540A |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,148 (GRCm39) |
S174P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,951,894 (GRCm39) |
E3953G |
probably damaging |
Het |
| Or4a74 |
A |
C |
2: 89,440,291 (GRCm39) |
S52A |
probably benign |
Het |
| Or4p19 |
A |
T |
2: 88,242,595 (GRCm39) |
C136S |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,815,550 (GRCm39) |
H1904Y |
|
Het |
| Plec |
C |
T |
15: 76,059,531 (GRCm39) |
D3469N |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,943,064 (GRCm39) |
T20A |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,603,286 (GRCm39) |
E404K |
possibly damaging |
Het |
| Prkce |
T |
A |
17: 86,795,625 (GRCm39) |
N287K |
probably damaging |
Het |
| Rchy1 |
C |
A |
5: 92,105,397 (GRCm39) |
C108F |
probably damaging |
Het |
| Scpppq1 |
G |
A |
5: 104,219,956 (GRCm39) |
T78I |
unknown |
Het |
| Sema6d |
A |
G |
2: 124,502,232 (GRCm39) |
Y572C |
possibly damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,783,030 (GRCm39) |
I248K |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,026 (GRCm39) |
L30P |
probably damaging |
Het |
| Slc25a47 |
G |
A |
12: 108,820,313 (GRCm39) |
G106S |
probably damaging |
Het |
| Slc43a2 |
A |
C |
11: 75,457,879 (GRCm39) |
M385L |
probably benign |
Het |
| Slc43a3 |
A |
G |
2: 84,768,671 (GRCm39) |
T97A |
probably damaging |
Het |
| Slc9b2 |
T |
A |
3: 135,030,351 (GRCm39) |
S223T |
probably benign |
Het |
| Smc5 |
A |
T |
19: 23,243,058 (GRCm39) |
C118S |
probably damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,472,491 (GRCm39) |
D94G |
probably damaging |
Het |
| Spred3 |
A |
G |
7: 28,866,086 (GRCm39) |
V71A |
possibly damaging |
Het |
| Srsf5 |
T |
A |
12: 80,994,328 (GRCm39) |
S86T |
possibly damaging |
Het |
| Sycp2 |
A |
G |
2: 177,990,088 (GRCm39) |
V1386A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,104,258 (GRCm39) |
L743P |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,806,971 (GRCm39) |
V62A |
probably damaging |
Het |
| Tbc1d9b |
T |
C |
11: 50,047,578 (GRCm39) |
L637P |
probably damaging |
Het |
| Tcf12 |
T |
G |
9: 71,757,097 (GRCm39) |
S697R |
possibly damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,508 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Trav5n-4 |
T |
C |
14: 53,550,362 (GRCm39) |
M1T |
probably null |
Het |
| Trbv13-2 |
A |
G |
6: 41,098,716 (GRCm39) |
E97G |
probably benign |
Het |
| Trpa1 |
G |
A |
1: 14,980,998 (GRCm39) |
P135S |
probably damaging |
Het |
| Ugt1a6a |
A |
C |
1: 88,066,590 (GRCm39) |
D132A |
possibly damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,962 (GRCm39) |
D548E |
possibly damaging |
Het |
| Zbtb39 |
A |
T |
10: 127,578,815 (GRCm39) |
D463V |
probably damaging |
Het |
| Zc3h12c |
C |
T |
9: 52,037,858 (GRCm39) |
|
probably benign |
Het |
| Zfp952 |
C |
T |
17: 33,222,004 (GRCm39) |
P161L |
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 |
|
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 |
|
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'- TTCTACGGGGAAATCGACTTTAC -3'
(R):5'- CTTACAAGCAAAGGAGTAGAATGTACC -3'
Sequencing Primer
(F):5'- TACGGGGAAATCGACTTTACTTGGAG -3'
(R):5'- TACCGAGTGGAGGAGGCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation