Incidental Mutation 'R3422:Nmt2'
| ID |
267071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nmt2
|
| Ensembl Gene |
ENSMUSG00000026643 |
| Gene Name |
N-myristoyltransferase 2 |
| Synonyms |
hNMT-2, A930001K02Rik |
| MMRRC Submission |
040640-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R3422 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
3285249-3329914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3285425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 31
(E31G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081932]
[ENSMUST00000091504]
[ENSMUST00000102989]
|
| AlphaFold |
O70311 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081932
AA Change: E31G
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080600
Gene: ENSMUSG00000026643
AA Change: E31G
| 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 |
possibly damaging
Transcript: ENSMUST00000091504
AA Change: R4G
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000089085
Gene: ENSMUSG00000026643
AA Change: R4G
| 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 |
possibly damaging
Transcript: ENSMUST00000102989
AA Change: E31G
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100054
Gene: ENSMUSG00000026643
AA Change: E31G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155761
|
| Meta Mutation Damage Score |
0.1062 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (40/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
G |
6: 34,770,900 (GRCm39) |
T132A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,983,072 (GRCm39) |
D1452G |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,984,116 (GRCm39) |
D1800G |
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,686 (GRCm39) |
D51N |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,466,586 (GRCm39) |
T2117A |
possibly damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,782,292 (GRCm39) |
K216M |
probably null |
Het |
| Ccdc73 |
G |
A |
2: 104,782,293 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,400,597 (GRCm39) |
W650R |
probably damaging |
Het |
| D930048N14Rik |
T |
C |
11: 51,545,785 (GRCm39) |
*226R |
probably null |
Het |
| Grin1 |
C |
T |
2: 25,193,926 (GRCm39) |
G390D |
probably damaging |
Het |
| Ifit1bl1 |
T |
G |
19: 34,571,350 (GRCm39) |
N369T |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,595,594 (GRCm39) |
V43A |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,621,595 (GRCm39) |
I81N |
probably damaging |
Het |
| Me2 |
C |
T |
18: 73,924,265 (GRCm39) |
A316T |
probably damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,772 (GRCm39) |
S172P |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nuak2 |
A |
G |
1: 132,259,818 (GRCm39) |
D532G |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,882,536 (GRCm39) |
V63L |
possibly damaging |
Het |
| Odad2 |
T |
C |
18: 7,223,523 (GRCm39) |
|
probably benign |
Het |
| Or1e1 |
A |
G |
11: 73,245,460 (GRCm39) |
N294D |
probably damaging |
Het |
| Or4k15b |
T |
C |
14: 50,271,997 (GRCm39) |
T288A |
possibly damaging |
Het |
| Otub1 |
C |
T |
19: 7,176,424 (GRCm39) |
D237N |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,254,738 (GRCm39) |
F416L |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,571,630 (GRCm39) |
M28T |
probably damaging |
Het |
| Saysd1 |
T |
A |
14: 20,132,994 (GRCm39) |
K54N |
probably benign |
Het |
| Slc5a4a |
T |
C |
10: 76,012,407 (GRCm39) |
V359A |
probably benign |
Het |
| Slc7a3 |
T |
A |
X: 100,124,481 (GRCm39) |
|
probably benign |
Het |
| Soat2 |
T |
C |
15: 102,065,244 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
G |
18: 44,143,311 (GRCm39) |
K756R |
probably benign |
Het |
| Tafa1 |
C |
A |
6: 96,626,099 (GRCm39) |
D112E |
probably damaging |
Het |
| Tlr4 |
A |
G |
4: 66,757,773 (GRCm39) |
I189V |
probably benign |
Het |
| Vsig2 |
G |
A |
9: 37,452,775 (GRCm39) |
V195I |
possibly damaging |
Het |
| Zfp217 |
A |
G |
2: 169,961,937 (GRCm39) |
F130S |
possibly damaging |
Het |
| Zfp91 |
G |
A |
19: 12,747,656 (GRCm39) |
A489V |
probably benign |
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 |
|
IGL02617:Nmt2
|
APN |
2 |
3,315,750 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTAAGTGGGAGAACTGATG -3'
(R):5'- TGCTAAGTTCCCACCCGAAC -3'
Sequencing Primer
(F):5'- AGACTCGAGACTCGGTGC -3'
(R):5'- AGGTGACTGTCGCGTCG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation