Incidental Mutation 'IGL00846:Naprt'
ID |
12234 |
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: 0.079)
|
Stock # |
IGL00846
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
75762812-75766330 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75763637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 395
(Y395F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023237
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023235]
[ENSMUST00000023237]
[ENSMUST00000089680]
[ENSMUST00000089681]
[ENSMUST00000109972]
[ENSMUST00000109975]
[ENSMUST00000123712]
[ENSMUST00000137426]
[ENSMUST00000154584]
[ENSMUST00000229571]
[ENSMUST00000116440]
[ENSMUST00000184858]
[ENSMUST00000144614]
[ENSMUST00000141268]
[ENSMUST00000151066]
|
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 benign
Transcript: ENSMUST00000023237
AA Change: Y395F
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000023237 Gene: ENSMUSG00000022574 AA Change: Y395F
Domain | Start | End | E-Value | Type |
PDB:4MZY|A
|
16 |
522 |
2e-70 |
PDB |
|
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 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 |
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 |
|
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: ENSMUST00000229571
|
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: ENSMUST00000184858
|
SMART Domains |
Protein: ENSMUSP00000139029 Gene: ENSMUSG00000098678
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
low complexity region
|
131 |
140 |
N/A |
INTRINSIC |
low complexity region
|
169 |
183 |
N/A |
INTRINSIC |
SCOP:d1qbkb_
|
366 |
704 |
1e-13 |
SMART |
|
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000230739
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn2l |
T |
C |
7: 126,098,350 (GRCm39) |
T181A |
probably damaging |
Het |
Caskin1 |
T |
C |
17: 24,718,323 (GRCm39) |
|
probably null |
Het |
Cass4 |
A |
C |
2: 172,271,643 (GRCm39) |
|
probably benign |
Het |
Cdh26 |
A |
T |
2: 178,123,417 (GRCm39) |
Y672F |
possibly damaging |
Het |
Cep290 |
T |
A |
10: 100,376,195 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
T |
C |
6: 47,169,972 (GRCm39) |
L1146P |
probably benign |
Het |
Cntnap5b |
T |
G |
1: 100,091,948 (GRCm39) |
C230G |
probably damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,452,354 (GRCm39) |
|
probably null |
Het |
Cux1 |
A |
G |
5: 136,355,650 (GRCm39) |
I324T |
probably damaging |
Het |
Dnajb4 |
T |
C |
3: 151,899,118 (GRCm39) |
N36S |
probably damaging |
Het |
Fancc |
T |
A |
13: 63,488,270 (GRCm39) |
T237S |
possibly damaging |
Het |
Fip1l1 |
A |
G |
5: 74,747,726 (GRCm39) |
|
probably benign |
Het |
Hemgn |
G |
T |
4: 46,396,171 (GRCm39) |
T355K |
possibly damaging |
Het |
Hivep1 |
T |
A |
13: 42,321,092 (GRCm39) |
L42* |
probably null |
Het |
Hps3 |
A |
G |
3: 20,079,956 (GRCm39) |
W234R |
probably benign |
Het |
Kit |
A |
T |
5: 75,801,471 (GRCm39) |
N586I |
probably damaging |
Het |
Mettl14 |
T |
A |
3: 123,165,012 (GRCm39) |
K109N |
probably damaging |
Het |
Mmab |
A |
T |
5: 114,571,378 (GRCm39) |
M166K |
probably benign |
Het |
Nostrin |
C |
T |
2: 69,015,899 (GRCm39) |
|
probably benign |
Het |
Pgap1 |
G |
T |
1: 54,531,180 (GRCm39) |
|
probably benign |
Het |
Plpp5 |
A |
T |
8: 26,210,585 (GRCm39) |
I59F |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,089,109 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,218,944 (GRCm39) |
V958D |
probably benign |
Het |
Serpinb3b |
T |
A |
1: 107,083,579 (GRCm39) |
N200I |
probably damaging |
Het |
Slc22a15 |
T |
A |
3: 101,768,136 (GRCm39) |
Q512L |
probably benign |
Het |
Tmf1 |
A |
T |
6: 97,150,277 (GRCm39) |
Y477N |
possibly damaging |
Het |
Trim10 |
T |
A |
17: 37,182,584 (GRCm39) |
L150H |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,572,797 (GRCm39) |
E723G |
possibly damaging |
Het |
Usp25 |
A |
G |
16: 76,859,293 (GRCm39) |
S264G |
probably damaging |
Het |
Vopp1 |
A |
G |
6: 57,731,465 (GRCm39) |
|
probably benign |
Het |
Wapl |
G |
T |
14: 34,414,701 (GRCm39) |
|
probably benign |
Het |
Wbp1 |
A |
G |
6: 83,097,022 (GRCm39) |
F93S |
probably damaging |
Het |
Wt1 |
G |
T |
2: 104,997,302 (GRCm39) |
R413L |
probably damaging |
Het |
Zfp345 |
C |
T |
2: 150,314,538 (GRCm39) |
G333D |
possibly damaging |
Het |
Zmynd11 |
C |
A |
13: 9,770,808 (GRCm39) |
|
probably null |
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 |
IGL01510:Naprt
|
APN |
15 |
75,762,837 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01834:Naprt
|
APN |
15 |
75,765,648 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2012-12-06 |