Incidental Mutation 'IGL02617:Nmt2'
| ID |
300716 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nmt2
|
| Ensembl Gene |
ENSMUSG00000026643 |
| Gene Name |
N-myristoyltransferase 2 |
| Synonyms |
hNMT-2, A930001K02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL02617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
3285249-3329914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3315750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 247
(I247V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081932]
[ENSMUST00000091504]
[ENSMUST00000102989]
|
| AlphaFold |
O70311 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081932
AA Change: I278V
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643
AA Change: I278V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
170 |
327 |
1e-78 |
PFAM |
|
Pfam:NMT_C
|
341 |
528 |
2.9e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091504
AA Change: I234V
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643
AA Change: I234V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
124 |
283 |
2e-84 |
PFAM |
|
Pfam:NMT_C
|
297 |
484 |
1.4e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102989
AA Change: I247V
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643
AA Change: I247V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
58 |
N/A |
INTRINSIC |
|
Pfam:NMT
|
137 |
296 |
7.8e-85 |
PFAM |
|
Pfam:NMT_C
|
310 |
497 |
6.4e-88 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a conditional allele knocked out in T cells exhibit reduced T cell, double positive T cell and single positive T cell numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
| Adgrg5 |
A |
G |
8: 95,660,610 (GRCm39) |
D79G |
probably benign |
Het |
| Aga |
G |
A |
8: 53,973,348 (GRCm39) |
D249N |
possibly damaging |
Het |
| Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
| Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,296,206 (GRCm39) |
K289E |
probably benign |
Het |
| Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
| Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
| Gcnt3 |
C |
A |
9: 69,941,444 (GRCm39) |
G375W |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,504 (GRCm39) |
K248R |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
| Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
| Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
probably damaging |
Het |
|
| Other mutations in Nmt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Nmt2
|
APN |
2 |
3,315,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00784:Nmt2
|
APN |
2 |
3,315,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:Nmt2
|
APN |
2 |
3,313,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Faul
|
UTSW |
2 |
3,306,341 (GRCm39) |
splice site |
probably null |
|
|
ANU05:Nmt2
|
UTSW |
2 |
3,315,731 (GRCm39) |
missense |
probably benign |
|
|
R0278:Nmt2
|
UTSW |
2 |
3,326,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0524:Nmt2
|
UTSW |
2 |
3,306,474 (GRCm39) |
missense |
probably benign |
|
|
R0743:Nmt2
|
UTSW |
2 |
3,315,822 (GRCm39) |
nonsense |
probably null |
|
|
R0884:Nmt2
|
UTSW |
2 |
3,315,822 (GRCm39) |
nonsense |
probably null |
|
|
R1895:Nmt2
|
UTSW |
2 |
3,323,672 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1946:Nmt2
|
UTSW |
2 |
3,323,672 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1957:Nmt2
|
UTSW |
2 |
3,326,419 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2037:Nmt2
|
UTSW |
2 |
3,310,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Nmt2
|
UTSW |
2 |
3,308,050 (GRCm39) |
missense |
probably benign |
|
|
R3422:Nmt2
|
UTSW |
2 |
3,285,425 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3835:Nmt2
|
UTSW |
2 |
3,315,723 (GRCm39) |
splice site |
probably benign |
|
|
R3955:Nmt2
|
UTSW |
2 |
3,313,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4701:Nmt2
|
UTSW |
2 |
3,323,678 (GRCm39) |
missense |
probably benign |
|
|
R5032:Nmt2
|
UTSW |
2 |
3,285,429 (GRCm39) |
missense |
probably benign |
|
|
R6373:Nmt2
|
UTSW |
2 |
3,325,988 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6396:Nmt2
|
UTSW |
2 |
3,315,738 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6410:Nmt2
|
UTSW |
2 |
3,317,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Nmt2
|
UTSW |
2 |
3,306,341 (GRCm39) |
splice site |
probably null |
|
|
R6865:Nmt2
|
UTSW |
2 |
3,315,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Nmt2
|
UTSW |
2 |
3,313,950 (GRCm39) |
missense |
probably benign |
|
|
R7139:Nmt2
|
UTSW |
2 |
3,285,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7516:Nmt2
|
UTSW |
2 |
3,313,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Nmt2
|
UTSW |
2 |
3,306,315 (GRCm39) |
intron |
probably benign |
|
|
R9581:Nmt2
|
UTSW |
2 |
3,317,212 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
X0067:Nmt2
|
UTSW |
2 |
3,325,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation