Incidental Mutation 'IGL01834:Naprt'
| ID |
154897 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Naprt
|
| Ensembl Gene |
ENSMUSG00000022574 |
| Gene Name |
nicotinate phosphoribosyltransferase |
| Synonyms |
9130210N20Rik, Naprt1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
75762812-75766330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75765648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 92
(F92S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000023237]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000229571]
[ENSMUST00000116440]
[ENSMUST00000154584]
[ENSMUST00000151066]
[ENSMUST00000141268]
[ENSMUST00000123712]
[ENSMUST00000144614]
[ENSMUST00000137426]
|
| AlphaFold |
Q8CC86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023235
|
| SMART Domains |
Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
|
Pfam:EF1_GNE
|
195 |
245 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023237
AA Change: F92S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: F92S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4MZY|A
|
16 |
522 |
2e-70 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000055220
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089680
|
| SMART Domains |
Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
70 |
N/A |
INTRINSIC |
|
coiled coil region
|
77 |
115 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
154 |
181 |
2.53e-4 |
SMART |
|
EF1_GNE
|
190 |
276 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089681
|
| SMART Domains |
Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
|
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
|
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
|
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109972
|
| SMART Domains |
Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
|
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109975
|
| SMART Domains |
Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
76 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
108 |
136 |
2.92e-5 |
PROSPERO |
|
low complexity region
|
137 |
156 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
231 |
259 |
2.92e-5 |
PROSPERO |
|
internal_repeat_1
|
244 |
263 |
2.02e-6 |
PROSPERO |
|
internal_repeat_1
|
389 |
408 |
2.02e-6 |
PROSPERO |
|
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
499 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
538 |
565 |
2.53e-4 |
SMART |
|
EF1_GNE
|
574 |
660 |
4.87e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134222
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229571
AA Change: F92S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116440
|
| SMART Domains |
Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
135 |
162 |
2.53e-4 |
SMART |
|
EF1_GNE
|
171 |
257 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154584
|
| SMART Domains |
Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
159 |
186 |
1.2e-8 |
SMART |
|
EF1_GNE
|
195 |
280 |
4.9e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151066
|
| SMART Domains |
Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
EF-1_beta_acid
|
68 |
95 |
2.53e-4 |
SMART |
|
EF1_GNE
|
104 |
190 |
4.87e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141268
|
| SMART Domains |
Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
coiled coil region
|
101 |
139 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
178 |
205 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123712
|
| SMART Domains |
Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
51 |
N/A |
INTRINSIC |
|
coiled coil region
|
58 |
96 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230739
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144614
|
| SMART Domains |
Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
62 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
82 |
120 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
159 |
186 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137426
|
| SMART Domains |
Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
72 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
160 |
179 |
9.48e-6 |
PROSPERO |
|
internal_repeat_1
|
305 |
324 |
9.48e-6 |
PROSPERO |
|
low complexity region
|
330 |
346 |
N/A |
INTRINSIC |
|
coiled coil region
|
353 |
391 |
N/A |
INTRINSIC |
|
EF-1_beta_acid
|
430 |
457 |
2.53e-4 |
SMART |
|
EF1_GNE
|
466 |
552 |
4.87e-41 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
G |
1: 58,348,183 (GRCm39) |
I634V |
possibly damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,234,595 (GRCm39) |
|
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,489 (GRCm39) |
Q243L |
probably benign |
Het |
| C2cd6 |
G |
A |
1: 59,036,604 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,137,251 (GRCm39) |
|
probably null |
Het |
| Cd2ap |
T |
A |
17: 43,137,252 (GRCm39) |
|
probably null |
Het |
| Cd86 |
G |
A |
16: 36,427,481 (GRCm39) |
R283W |
probably benign |
Het |
| CK137956 |
T |
A |
4: 127,840,442 (GRCm39) |
K421N |
probably damaging |
Het |
| Coro2b |
G |
A |
9: 62,338,639 (GRCm39) |
T193I |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,325,824 (GRCm39) |
|
probably benign |
Het |
| Fas |
A |
G |
19: 34,296,003 (GRCm39) |
T149A |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,273,468 (GRCm39) |
I121F |
probably damaging |
Het |
| Hes3 |
C |
T |
4: 152,371,557 (GRCm39) |
A106T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,105 (GRCm39) |
Y253H |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,802,731 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
C |
A |
1: 134,417,158 (GRCm39) |
R557S |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,600,453 (GRCm39) |
T315A |
probably benign |
Het |
| Mchr1 |
A |
G |
15: 81,122,066 (GRCm39) |
Y272C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,538,071 (GRCm39) |
I1202V |
probably benign |
Het |
| Mrpl38 |
T |
A |
11: 116,026,140 (GRCm39) |
K87* |
probably null |
Het |
| Msh6 |
A |
G |
17: 88,293,140 (GRCm39) |
T632A |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,808,962 (GRCm39) |
I1767T |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,807,901 (GRCm39) |
H1630Q |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,668 (GRCm39) |
I11N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,860 (GRCm39) |
Y291C |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,556,564 (GRCm39) |
T306A |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,711,279 (GRCm39) |
F12S |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,570,692 (GRCm39) |
N613Y |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,925,446 (GRCm39) |
I731T |
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,046,832 (GRCm39) |
T465I |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,454,773 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,610,311 (GRCm39) |
I607L |
possibly damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,720,073 (GRCm39) |
|
probably benign |
Het |
| Srek1 |
C |
A |
13: 103,885,293 (GRCm39) |
|
probably benign |
Het |
| Ssb |
A |
G |
2: 69,701,147 (GRCm39) |
T377A |
possibly damaging |
Het |
| Sympk |
G |
T |
7: 18,777,360 (GRCm39) |
A537S |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,739,898 (GRCm39) |
S518P |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,475 (GRCm39) |
K45E |
probably benign |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,554 (GRCm39) |
F124L |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,061,576 (GRCm39) |
Y133H |
probably damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,686,354 (GRCm39) |
E578D |
probably benign |
Het |
| Vwf |
G |
A |
6: 125,567,133 (GRCm39) |
|
probably benign |
Het |
| Zbtb11 |
A |
G |
16: 55,811,371 (GRCm39) |
N510D |
probably benign |
Het |
|
| Other mutations in Naprt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Naprt
|
APN |
15 |
75,765,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00846:Naprt
|
APN |
15 |
75,763,637 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01510:Naprt
|
APN |
15 |
75,762,837 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02002:Naprt
|
APN |
15 |
75,763,221 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02948:Naprt
|
APN |
15 |
75,764,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0440:Naprt
|
UTSW |
15 |
75,762,918 (GRCm39) |
splice site |
probably benign |
|
|
R0523:Naprt
|
UTSW |
15 |
75,764,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Naprt
|
UTSW |
15 |
75,765,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Naprt
|
UTSW |
15 |
75,763,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Naprt
|
UTSW |
15 |
75,764,605 (GRCm39) |
splice site |
probably null |
|
|
R5495:Naprt
|
UTSW |
15 |
75,765,696 (GRCm39) |
splice site |
probably null |
|
|
R5886:Naprt
|
UTSW |
15 |
75,763,324 (GRCm39) |
splice site |
probably null |
|
|
R6166:Naprt
|
UTSW |
15 |
75,763,326 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6282:Naprt
|
UTSW |
15 |
75,763,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7167:Naprt
|
UTSW |
15 |
75,764,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:Naprt
|
UTSW |
15 |
75,763,607 (GRCm39) |
splice site |
probably null |
|
|
R8886:Naprt
|
UTSW |
15 |
75,765,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Naprt
|
UTSW |
15 |
75,763,859 (GRCm39) |
missense |
probably null |
0.93 |
|
R9668:Naprt
|
UTSW |
15 |
75,765,281 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0018:Naprt
|
UTSW |
15 |
75,764,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-02-04 |
Incidental Mutation