Incidental Mutation 'R1480:Nt5c1b'
| ID |
164324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5c1b
|
| Ensembl Gene |
ENSMUSG00000020622 |
| Gene Name |
5'-nucleotidase, cytosolic IB |
| Synonyms |
4921514H13Rik, CN-IB |
| MMRRC Submission |
039533-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1480 (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 10424886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 142
(E142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002456]
[ENSMUST00000118657]
[ENSMUST00000143739]
[ENSMUST00000147323]
[ENSMUST00000217944]
[ENSMUST00000218026]
[ENSMUST00000219826]
[ENSMUST00000218551]
[ENSMUST00000218339]
[ENSMUST00000219292]
[ENSMUST00000223534]
[ENSMUST00000218287]
[ENSMUST00000220257]
[ENSMUST00000218327]
[ENSMUST00000218417]
[ENSMUST00000219049]
[ENSMUST00000220611]
|
| AlphaFold |
Q91YE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002456
AA Change: E144G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000002456
Gene: ENSMUSG00000020622
AA Change: E144G
| 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: E142G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112694
Gene: ENSMUSG00000020622
AA Change: E142G
| 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: E144G
|
| SMART Domains |
Protein: ENSMUSP00000123105
Gene: ENSMUSG00000020622
AA Change: E144G
| 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: E144G
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000117869
Gene: ENSMUSG00000020622
AA Change: E144G
| 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: E202G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218026
AA Change: E144G
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218148
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219826
AA Change: E202G
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218551
AA Change: E144G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218288
AA Change: E89G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218339
AA Change: E142G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219292
AA Change: E144G
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219630
AA Change: E33G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223534
AA Change: E144G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218287
AA Change: E202G
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220257
AA Change: E202G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218327
AA Change: E142G
PolyPhen 2
Score 0.823 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218417
AA Change: E202G
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219049
AA Change: E144G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220611
AA Change: E144G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,409 (GRCm39) |
R126C |
possibly damaging |
Het |
| Abcb9 |
C |
A |
5: 124,216,889 (GRCm39) |
A443S |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,262,171 (GRCm39) |
M1074V |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,454 (GRCm39) |
Y614H |
probably damaging |
Het |
| Agbl4 |
G |
A |
4: 111,423,914 (GRCm39) |
M313I |
possibly damaging |
Het |
| AI987944 |
T |
C |
7: 41,024,343 (GRCm39) |
D212G |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,448 (GRCm39) |
S537P |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,826,472 (GRCm39) |
R1031* |
probably null |
Het |
| Arid1a |
A |
G |
4: 133,407,700 (GRCm39) |
M2269T |
unknown |
Het |
| Ash1l |
C |
A |
3: 88,892,359 (GRCm39) |
P1413T |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,617 (GRCm39) |
I279L |
probably damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,341 (GRCm39) |
|
probably null |
Het |
| Ccdc158 |
T |
C |
5: 92,796,903 (GRCm39) |
K478E |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,000,782 (GRCm39) |
I121V |
probably benign |
Het |
| Chad |
A |
T |
11: 94,455,963 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
T |
C |
10: 76,545,752 (GRCm39) |
I907V |
unknown |
Het |
| Cpe |
T |
A |
8: 65,047,969 (GRCm39) |
T432S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,595,325 (GRCm39) |
T1941A |
possibly damaging |
Het |
| Dennd3 |
G |
A |
15: 73,404,695 (GRCm39) |
V257I |
probably benign |
Het |
| Dnajc21 |
T |
C |
15: 10,460,037 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
A |
G |
6: 83,036,433 (GRCm39) |
R146G |
possibly damaging |
Het |
| Etf1 |
T |
C |
18: 35,042,276 (GRCm39) |
E261G |
probably damaging |
Het |
| Fermt2 |
C |
T |
14: 45,699,244 (GRCm39) |
V617I |
possibly damaging |
Het |
| Gabarap |
T |
C |
11: 69,882,551 (GRCm39) |
Y5H |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,215,781 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gimap5 |
A |
G |
6: 48,729,964 (GRCm39) |
E178G |
probably damaging |
Het |
| Gpatch1 |
C |
T |
7: 35,002,763 (GRCm39) |
G249E |
probably damaging |
Het |
| Gse1 |
T |
G |
8: 121,299,133 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,836,515 (GRCm39) |
D82G |
probably damaging |
Het |
| Kit |
G |
A |
5: 75,797,977 (GRCm39) |
D422N |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 65,003,995 (GRCm39) |
F173I |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,766,278 (GRCm39) |
D253G |
possibly damaging |
Het |
| Lias |
T |
A |
5: 65,549,634 (GRCm39) |
H39Q |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,793,401 (GRCm39) |
D2504V |
probably damaging |
Het |
| Mgat5 |
A |
T |
1: 127,387,716 (GRCm39) |
R557S |
probably damaging |
Het |
| Mrpl54 |
T |
C |
10: 81,101,489 (GRCm39) |
T91A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,984,371 (GRCm39) |
D1069E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
C |
4: 120,625,921 (GRCm39) |
|
probably null |
Het |
| Nol7 |
A |
T |
13: 43,552,104 (GRCm39) |
E75V |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,710,337 (GRCm39) |
V606E |
probably damaging |
Het |
| Npat |
TGGTAAAA |
T |
9: 53,474,366 (GRCm39) |
|
probably null |
Het |
| Ogdh |
A |
T |
11: 6,297,827 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
G |
17: 37,590,636 (GRCm39) |
V225A |
probably benign |
Het |
| Parg |
A |
T |
14: 31,931,585 (GRCm39) |
K402* |
probably null |
Het |
| Patj |
G |
A |
4: 98,357,819 (GRCm39) |
G695E |
probably damaging |
Het |
| Pde3a |
G |
A |
6: 141,433,300 (GRCm39) |
S777N |
probably benign |
Het |
| Phactr2 |
G |
A |
10: 13,129,536 (GRCm39) |
P174L |
possibly damaging |
Het |
| Phtf1 |
C |
T |
3: 103,894,750 (GRCm39) |
R113* |
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,564,443 (GRCm39) |
V1346L |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,193,865 (GRCm39) |
W525R |
probably damaging |
Het |
| Prl8a1 |
C |
T |
13: 27,758,055 (GRCm39) |
R218H |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,376,310 (GRCm39) |
E536G |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,500,042 (GRCm39) |
N535S |
probably benign |
Het |
| Rbm7 |
G |
T |
9: 48,401,016 (GRCm39) |
D237E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,342,180 (GRCm39) |
V122A |
probably damaging |
Het |
| Sdhc |
C |
T |
1: 170,973,370 (GRCm39) |
R11H |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,887,029 (GRCm39) |
N360S |
possibly damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,437 (GRCm39) |
M281K |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,822,889 (GRCm39) |
E210G |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,202 (GRCm39) |
S31P |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,856,836 (GRCm39) |
N28I |
possibly damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Tacc3 |
G |
A |
5: 33,821,941 (GRCm39) |
V234I |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,469,511 (GRCm39) |
M132L |
possibly damaging |
Het |
| Tas2r104 |
C |
A |
6: 131,662,257 (GRCm39) |
V151F |
probably benign |
Het |
| Tbc1d10b |
C |
T |
7: 126,802,950 (GRCm39) |
S326N |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,997,451 (GRCm39) |
C35Y |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,755,123 (GRCm39) |
I2067T |
probably benign |
Het |
| Upk1a |
T |
C |
7: 30,306,311 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r39 |
T |
G |
7: 9,017,955 (GRCm39) |
T794P |
probably damaging |
Het |
| Wnk2 |
G |
A |
13: 49,210,708 (GRCm39) |
P1704S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,593 (GRCm39) |
E790G |
possibly damaging |
Het |
| Zmym1 |
G |
T |
4: 126,942,405 (GRCm39) |
T563K |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,745 (GRCm39) |
F132Y |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 128,019,599 (GRCm39) |
A48T |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCATGTGTGAGGTCCAGGTAG -3'
(R):5'- ATTCCGGTTCCATGTCCACAGAGG -3'
Sequencing Primer
(F):5'- ACTAGACATGCTTGGATGCC -3'
(R):5'- CATAGGGCTTCCACTCAGTAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation