Incidental Mutation 'R3111:Nmnat3'
| ID |
263776 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmnat3
|
| Ensembl Gene |
ENSMUSG00000032456 |
| Gene Name |
nicotinamide nucleotide adenylyltransferase 3 |
| Synonyms |
4933408N02Rik, PNAT3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R3111 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
98169488-98302491 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98281533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 45
(I45N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112935]
[ENSMUST00000112937]
[ENSMUST00000112938]
[ENSMUST00000134253]
|
| AlphaFold |
Q99JR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035031
AA Change: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035031
Gene: ENSMUSG00000032456
AA Change: I45N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_like
|
10 |
207 |
8.6e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112935
AA Change: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108557
Gene: ENSMUSG00000032456
AA Change: I45N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
3 |
97 |
2e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112937
|
| SMART Domains |
Protein: ENSMUSP00000108559
Gene: ENSMUSG00000032456
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
1 |
141 |
7.6e-31 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112938
AA Change: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108560
Gene: ENSMUSG00000032456
AA Change: I45N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
10 |
121 |
2.4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134253
AA Change: I45N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141111
Gene: ENSMUSG00000032456
AA Change: I45N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
10 |
55 |
4.3e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit splenomegaly and hemolytic anemia resulting from a glycolysis pathway blockade. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Car12 |
C |
T |
9: 66,661,008 (GRCm39) |
T124I |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,087 (GRCm39) |
M1111K |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gad1-ps |
A |
G |
10: 99,280,383 (GRCm39) |
|
noncoding transcript |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,406 (GRCm39) |
V129A |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Myh4 |
T |
A |
11: 67,137,276 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Or1e32 |
T |
C |
11: 73,705,012 (GRCm39) |
R299G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,940,290 (GRCm39) |
I232V |
probably benign |
Het |
| Pcdha12 |
A |
T |
18: 37,155,243 (GRCm39) |
H654L |
probably damaging |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,643,372 (GRCm39) |
S65P |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,813,222 (GRCm39) |
T11I |
probably benign |
Het |
| Phf24 |
G |
A |
4: 42,938,316 (GRCm39) |
V226I |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,629 (GRCm39) |
D1713G |
probably damaging |
Het |
| Rbp3 |
G |
T |
14: 33,676,069 (GRCm39) |
V6F |
probably benign |
Het |
| Sac3d1 |
T |
C |
19: 6,168,387 (GRCm39) |
K77R |
probably benign |
Het |
| Slc1a6 |
T |
A |
10: 78,624,915 (GRCm39) |
S107T |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,757,547 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
| Tnn |
C |
A |
1: 159,934,625 (GRCm39) |
D1263Y |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,076,145 (GRCm39) |
F499L |
probably damaging |
Het |
|
| Other mutations in Nmnat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03406:Nmnat3
|
APN |
9 |
98,281,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Nmnat3
|
UTSW |
9 |
98,292,306 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1564:Nmnat3
|
UTSW |
9 |
98,236,219 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1780:Nmnat3
|
UTSW |
9 |
98,236,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1832:Nmnat3
|
UTSW |
9 |
98,281,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1981:Nmnat3
|
UTSW |
9 |
98,292,352 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3711:Nmnat3
|
UTSW |
9 |
98,292,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Nmnat3
|
UTSW |
9 |
98,292,205 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7055:Nmnat3
|
UTSW |
9 |
98,292,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7948:Nmnat3
|
UTSW |
9 |
98,281,535 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8032:Nmnat3
|
UTSW |
9 |
98,292,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8323:Nmnat3
|
UTSW |
9 |
98,292,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nmnat3
|
UTSW |
9 |
98,281,595 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAAGCTTCCACTCTGAGGC -3'
(R):5'- GACTCTGTTACCTCAGCACC -3'
Sequencing Primer
(F):5'- TTCCACTCTGAGGCATAGAGGAC -3'
(R):5'- GTTACCTCAGCACCTTCACCG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation