Incidental Mutation 'R6373:Nmt2'
ID |
513612 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nmt2
|
Ensembl Gene |
ENSMUSG00000026643 |
Gene Name |
N-myristoyltransferase 2 |
Synonyms |
hNMT-2, A930001K02Rik |
MMRRC Submission |
044523-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R6373 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
3285249-3329914 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 3325988 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 462
(T462A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062672]
[ENSMUST00000081932]
[ENSMUST00000091504]
[ENSMUST00000102989]
|
AlphaFold |
O70311 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062672
|
SMART Domains |
Protein: ENSMUSP00000050992 Gene: ENSMUSG00000049950
Domain | Start | End | E-Value | Type |
low complexity region
|
63 |
74 |
N/A |
INTRINSIC |
Pfam:Ribosomal_L7Ae
|
96 |
185 |
2.2e-16 |
PFAM |
low complexity region
|
262 |
280 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081932
AA Change: T462A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000080600 Gene: ENSMUSG00000026643 AA Change: T462A
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: T418A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000089085 Gene: ENSMUSG00000026643 AA Change: T418A
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: T431A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000100054 Gene: ENSMUSG00000026643 AA Change: T431A
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 |
|
Meta Mutation Damage Score |
0.1532 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
95% (37/39) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
C |
8: 10,038,240 (GRCm39) |
L279P |
probably damaging |
Het |
Aldh16a1 |
C |
G |
7: 44,795,695 (GRCm39) |
V373L |
probably benign |
Het |
Btn2a2 |
T |
C |
13: 23,665,999 (GRCm39) |
K278E |
probably benign |
Het |
Carns1 |
G |
T |
19: 4,216,515 (GRCm39) |
Q556K |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,958,898 (GRCm39) |
E650V |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,203,118 (GRCm39) |
S1195P |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,472,638 (GRCm39) |
H464R |
probably damaging |
Het |
Eva1a |
T |
C |
6: 82,068,847 (GRCm39) |
L58S |
probably damaging |
Het |
Fign |
A |
C |
2: 63,809,989 (GRCm39) |
M427R |
probably benign |
Het |
Gm6309 |
A |
T |
5: 146,107,085 (GRCm39) |
I87N |
probably damaging |
Het |
H2ac7 |
A |
G |
13: 23,759,027 (GRCm39) |
K128R |
probably benign |
Het |
Helz |
A |
G |
11: 107,486,010 (GRCm39) |
T140A |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,541,618 (GRCm39) |
H1227Q |
possibly damaging |
Het |
Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
Mex3c |
T |
C |
18: 73,723,065 (GRCm39) |
M386T |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,022,994 (GRCm39) |
I1644F |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,102,923 (GRCm39) |
P513S |
probably damaging |
Het |
Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
Nrxn2 |
T |
C |
19: 6,559,860 (GRCm39) |
I163T |
probably damaging |
Het |
Nrxn3 |
G |
C |
12: 89,943,237 (GRCm39) |
G122R |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,479,724 (GRCm39) |
V280A |
probably benign |
Het |
Or5d20-ps1 |
T |
C |
2: 87,932,189 (GRCm39) |
I47M |
possibly damaging |
Het |
Parg |
T |
G |
14: 31,931,454 (GRCm39) |
|
probably null |
Het |
Pcdhb7 |
T |
A |
18: 37,475,264 (GRCm39) |
C133* |
probably null |
Het |
Ppihl |
A |
G |
5: 44,070,893 (GRCm39) |
T127A |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
Rpe |
T |
C |
1: 66,755,139 (GRCm39) |
F174L |
probably benign |
Het |
Rxrb |
A |
G |
17: 34,252,533 (GRCm39) |
N40S |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,486,889 (GRCm39) |
G3840W |
probably damaging |
Het |
Smurf2 |
A |
G |
11: 106,724,595 (GRCm39) |
L529P |
probably damaging |
Het |
Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
Spink5 |
A |
G |
18: 44,123,739 (GRCm39) |
E342G |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syce1l |
T |
A |
8: 114,376,143 (GRCm39) |
M31K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,618,960 (GRCm39) |
V14394I |
probably damaging |
Het |
Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
Vangl1 |
T |
C |
3: 102,065,764 (GRCm39) |
K407R |
probably benign |
Het |
Vmn1r19 |
T |
C |
6: 57,382,317 (GRCm39) |
I290T |
unknown |
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 |
|
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 |
|
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'- AAGGGCTCAAGCTGGGTTAC -3'
(R):5'- ACTGACTAAGCACCATCTTAGAAG -3'
Sequencing Primer
(F):5'- GAGGTCAGTATCAGTTGATCAAATGC -3'
(R):5'- GACTGTATTATAAAGACAGTTGGGG -3'
|
Posted On |
2018-04-27 |