Incidental Mutation 'IGL03406:Nmnat3'
| ID |
421607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmnat3
|
| Ensembl Gene |
ENSMUSG00000032456 |
| Gene Name |
nicotinamide nucleotide adenylyltransferase 3 |
| Synonyms |
PNAT3, 4933408N02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL03406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
98287435-98420438 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98399477 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 44
(G44D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112935]
[ENSMUST00000112937]
[ENSMUST00000112938]
[ENSMUST00000134253]
|
| AlphaFold |
Q99JR6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112935
AA Change: G44D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108557
Gene: ENSMUSG00000032456
AA Change: G44D
| 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: G44D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108560
Gene: ENSMUSG00000032456
AA Change: G44D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
10 |
121 |
2.4e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134253
AA Change: G44D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141111
Gene: ENSMUSG00000032456
AA Change: G44D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
10 |
55 |
4.3e-13 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012P22Rik |
A |
G |
4: 144,423,844 (GRCm38) |
Y56H |
probably damaging |
Het |
| A530016L24Rik |
T |
A |
12: 112,496,883 (GRCm38) |
|
probably null |
Het |
| Adcy7 |
C |
T |
8: 88,318,319 (GRCm38) |
R228* |
probably null |
Het |
| Cdcp1 |
T |
C |
9: 123,185,313 (GRCm38) |
H132R |
probably benign |
Het |
| Cyp4a32 |
T |
C |
4: 115,602,303 (GRCm38) |
I78T |
probably benign |
Het |
| Fap |
A |
T |
2: 62,542,122 (GRCm38) |
|
probably benign |
Het |
| Gad1-ps |
C |
T |
10: 99,444,779 (GRCm38) |
|
noncoding transcript |
Het |
| Gli3 |
T |
C |
13: 15,648,581 (GRCm38) |
I296T |
probably damaging |
Het |
| H2-Q2 |
T |
C |
17: 35,342,825 (GRCm38) |
V97A |
probably benign |
Het |
| Hr |
T |
A |
14: 70,563,420 (GRCm38) |
|
probably null |
Het |
| Itgax |
C |
T |
7: 128,149,198 (GRCm38) |
T1133I |
possibly damaging |
Het |
| L3mbtl2 |
G |
A |
15: 81,681,993 (GRCm38) |
R339H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,737,107 (GRCm38) |
K1726E |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 94,476,855 (GRCm38) |
Y528H |
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,661,568 (GRCm38) |
D366V |
probably damaging |
Het |
| Olfr539 |
C |
A |
7: 140,667,511 (GRCm38) |
L68M |
probably damaging |
Het |
| Pde4d |
A |
T |
13: 109,954,591 (GRCm38) |
|
probably benign |
Het |
| Ptpn22 |
C |
A |
3: 103,912,016 (GRCm38) |
N795K |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,722,169 (GRCm38) |
V289D |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,270,101 (GRCm38) |
D40G |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,947,585 (GRCm38) |
|
noncoding transcript |
Het |
| Smarcad1 |
T |
A |
6: 65,092,526 (GRCm38) |
F530Y |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,742,873 (GRCm38) |
|
probably benign |
Het |
| Supt16 |
A |
T |
14: 52,178,141 (GRCm38) |
I379N |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,684,260 (GRCm38) |
N39S |
probably benign |
Het |
| Ubash3b |
T |
A |
9: 41,037,479 (GRCm38) |
Y180F |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,639,295 (GRCm38) |
D921E |
possibly damaging |
Het |
| Zdhhc20 |
T |
C |
14: 57,839,099 (GRCm38) |
T366A |
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,366,331 (GRCm38) |
C419S |
probably damaging |
Het |
| Zfp69 |
T |
C |
4: 120,931,084 (GRCm38) |
T345A |
probably benign |
Het |
|
| Other mutations in Nmnat3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4466001:Nmnat3
|
UTSW |
9 |
98,410,253 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1564:Nmnat3
|
UTSW |
9 |
98,354,166 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1780:Nmnat3
|
UTSW |
9 |
98,354,111 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1832:Nmnat3
|
UTSW |
9 |
98,399,468 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1981:Nmnat3
|
UTSW |
9 |
98,410,299 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3111:Nmnat3
|
UTSW |
9 |
98,399,480 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3711:Nmnat3
|
UTSW |
9 |
98,410,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4355:Nmnat3
|
UTSW |
9 |
98,410,152 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7055:Nmnat3
|
UTSW |
9 |
98,410,233 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7948:Nmnat3
|
UTSW |
9 |
98,399,482 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8032:Nmnat3
|
UTSW |
9 |
98,410,218 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8323:Nmnat3
|
UTSW |
9 |
98,410,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Nmnat3
|
UTSW |
9 |
98,399,542 (GRCm38) |
missense |
probably benign |
0.11 |
|
| Posted On |
2016-08-02 |
Incidental Mutation